diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 9876e647be..4942373b29 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -198349,7 +198349,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1462/cone-rod [Term] id: MONDO:0010246 -name: developmental epileptic encephalopathy 9 +name: developmental and epileptic encephalopathy, 9 def: "Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance." [Orphanet:101039] subset: ordo_disease {source="Orphanet:101039"} synonym: "DEE9" EXACT [OMIM:300088] @@ -198382,8 +198382,8 @@ xref: OMIM:300088 {source="ORDO:101039/e", source="MONDO:equivalentTo", source=" xref: Orphanet:101039 {source="OMIM:300088", source="MONDO:equivalentTo", source="DOID:0060848"} xref: UMLS:C1848137 {source="NCBI:mim2gene_medline", source="OMIM:300088", source="MONDO:equivalentTo", source="Orphanet:101039", source="MEDGEN:kboom-pr92-c96"} is_a: MONDO:0016160 {source="Orphanet:101039"} ! X-linked intellectual disability-epilepsy syndrome -is_a: MONDO:0100062 {source="DC-OMIM:300088", source="DOID:0060848", source="MONDO:Redundant", source="OMIM:300088"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:300088", source="DOID:0060848", source="MONDO:Redundant", source="OMIM:300088"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14270 ! PCDH19 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14270 {source="mim2gene_medgen"} ! PCDH19 property_value: confidence "6.200000000000001" xsd:double @@ -201184,7 +201184,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10390/retinit [Term] id: MONDO:0010375 -name: developmental epileptic encephalopathy, 8 +name: developmental and epileptic encephalopathy, 8 subset: ordo_disease {source="Orphanet:163985"} synonym: "DEE8" EXACT [OMIM:300607] synonym: "early infantile epileptic encephalopathy 8" EXACT [DOID:0080215] @@ -201203,7 +201203,7 @@ xref: UMLS:C1845102 {source="OMIM:300607", source="NCBI:mim2gene_medline", sourc is_a: MONDO:0005395 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:163985", source="indirect"} ! movement disorder is_a: MONDO:0016160 {source="Orphanet:163985"} ! X-linked intellectual disability-epilepsy syndrome is_a: MONDO:0017658 {source="MONDO:Redundant", source="Orphanet:163985"} ! hyperekplexia -is_a: MONDO:0100062 {source="DC-OMIM:300607", source="DOID:0080215", source="OMIM:300607"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:300607", source="DOID:0080215", source="OMIM:300607"} ! developmental and epileptic encephalopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14561 {source="mim2gene_medgen"} ! ARHGEF9 relationship: has_modifier MONDO:0021136 {source="MONDO:0015957"} ! rare property_value: confidence "6.200000000000001" xsd:double @@ -201650,7 +201650,7 @@ property_value: confidence "1.0" xsd:double [Term] id: MONDO:0010396 -name: developmental epileptic encephalopathy, 2 +name: developmental and epileptic encephalopathy, 2 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease synonym: "CDKL5 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -201670,8 +201670,8 @@ is_a: MONDO:0015653 {source="Orphanet:505652"} ! monogenic epilepsy is_a: MONDO:0017656 {source="Orphanet:505652"} ! motor stereotypies is_a: MONDO:0017746 {source="ORDO:3095/btnt"} ! atypical Rett syndrome is_a: MONDO:0018097 {source="ORDO:3451/btnt"} ! West syndrome -is_a: MONDO:0100062 {source="DC-OMIM:300672", source="MONDO:Redundant", source="OMIM:300672"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:300672", source="MONDO:Redundant", source="OMIM:300672"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11411 ! CDKL5 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11411 {source="Orphanet:505652", source="mim2gene_medgen"} ! CDKL5 property_value: confidence "6.200000000000001" xsd:double @@ -203001,7 +203001,7 @@ is_a: MONDO:0015159 {source="MONDO:Redundant", source="Orphanet:300496"} ! multi is_a: MONDO:0017748 {source="Orphanet:300496"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation is_a: MONDO:0018287 {source="MONDO:Redundant", source="Orphanet:300496"} ! congenital disorder of glycosylation with epilepsy as a major feature is_a: MONDO:0018296 {source="Orphanet:300496"} ! congenital disorder of glycosylation with developmental anomaly -is_a: MONDO:0100062 {source="DC-OMIM:300868", source="OMIM:300868"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:300868", source="OMIM:300868"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0015159 ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8957 ! PIGA relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8957 {source="mim2gene_medgen"} ! PIGA @@ -203081,7 +203081,7 @@ property_value: confidence "0.8842611435204024" xsd:double [Term] id: MONDO:0010472 -name: developmental epileptic encephalopathy, 36 +name: developmental and epileptic encephalopathy, 36 subset: ordo_disease {source="Orphanet:324422"} synonym: "ALG13-CDG" EXACT [Orphanet:324422] synonym: "CDG Is" RELATED [OMIM:300884] @@ -203106,7 +203106,7 @@ is_a: MONDO:0005500 {source="DC-OMIM:300884", source="MONDOLEX:0010472"} ! conge is_a: MONDO:0017740 {source="Orphanet:324422"} ! disorder of protein N-glycosylation is_a: MONDO:0018287 {source="Orphanet:324422"} ! congenital disorder of glycosylation with epilepsy as a major feature is_a: MONDO:0018288 {source="Orphanet:324422"} ! congenital disorder of glycosylation with hepatic involvement -is_a: MONDO:0100062 {source="OMIM:300884"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:300884"} ! developmental and epileptic encephalopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30881 {source="mim2gene_medgen"} ! ALG13 property_value: confidence "11.66666666666667" xsd:double @@ -207023,7 +207023,7 @@ property_value: confidence "2.75" xsd:double [Term] id: MONDO:0010632 -name: developmental epileptic encephalopathy, 1 +name: developmental and epileptic encephalopathy, 1 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene." [MONDO:patterns/disease_series_by_gene] synonym: "ARX early infantile epileptic encephalopathy" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "arx early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] @@ -207042,8 +207042,8 @@ synonym: "XMESID" RELATED [OMIM:308350] xref: OMIM:308350 {source="MONDO:equivalentTo"} xref: UMLS:C3463992 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:308350"} is_a: MONDO:0018097 {source="ORDO:3451/btnt"} ! West syndrome -is_a: MONDO:0100062 {source="DC-OMIM:308350", source="MONDO:Redundant", source="OMIM:308350"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:308350", source="MONDO:Redundant", source="OMIM:308350"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18060 ! ARX relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18060 {source="mim2gene_medgen"} ! ARX property_value: confidence "6.200000000000001" xsd:double @@ -241363,7 +241363,7 @@ property_value: confidence "0.7142857142857151" xsd:double [Term] id: MONDO:0012245 -name: developmental epileptic encephalopathy, 3 +name: developmental and epileptic encephalopathy, 3 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE3" EXACT [OMIM:609304] synonym: "early infantile epileptic encephalopathy caused by mutation in SLC25A22" EXACT [MONDO:design_pattern] @@ -241376,8 +241376,8 @@ xref: OMIM:609304 {source="MONDO:equivalentTo"} xref: Orphanet:1935 {source="MONDO:subClassOf", source="OMIM:609304"} xref: UMLS:C0270855 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="OMIM:609304"} is_a: MONDO:0016022 {source="ORDO:1935/btnt"} ! early myoclonic encephalopathy -is_a: MONDO:0100062 {source="DC-OMIM:609304", source="MONDO:Redundant", source="OMIM:609304"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:609304", source="MONDO:Redundant", source="OMIM:609304"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19954 ! SLC25A22 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19954 {source="mim2gene_medgen"} ! SLC25A22 property_value: confidence "6.200000000000001" xsd:double @@ -252988,7 +252988,7 @@ property_value: confidence "2.900441907477719" xsd:double [Term] id: MONDO:0012812 -name: developmental epileptic encephalopathy, 4 +name: developmental and epileptic encephalopathy, 4 def: "Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition." [https://rarediseases.info.nih.gov/diseases/12900/early-infantile-epileptic-encephalopathy-4] subset: gard_rare {source="GARD:0012900"} synonym: "DEE4" EXACT [OMIM:612164] @@ -253006,8 +253006,8 @@ xref: OMIM:612164 {source="MONDO:equivalentTo"} xref: Orphanet:33069 {source="MONDO:subClassOf", source="OMIM:612164"} xref: SCTID:768666006 {source="MONDO:equivalentTo"} xref: UMLS:C2677326 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612164"} -is_a: MONDO:0100062 {source="MONDO:Redundant", source="OMIM:612164", source="indirect"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="MONDO:Redundant", source="OMIM:612164", source="indirect"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11444 ! STXBP1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11444 {source="mim2gene_medgen"} ! STXBP1 relationship: excluded_subClassOf MONDO:0100135 {source="ORDO:33069/btnt"} ! Dravet syndrome @@ -258007,7 +258007,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10683/stargar [Term] id: MONDO:0013056 -name: developmental epileptic encephalopathy, 39 +name: developmental and epileptic encephalopathy, 39 def: "Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease." [Orphanet:353217] subset: ordo_disease {source="Orphanet:353217"} synonym: "AGC1 deficiency" EXACT [DOID:0080349] @@ -258033,8 +258033,8 @@ xref: UMLS:C2751855 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo" xref: UMLS:C4512050 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} is_a: MONDO:0016801 {source="Orphanet:353217"} ! mitochondrial substrate carrier disorder is_a: MONDO:0020070 {source="MONDO:Redundant", source="Orphanet:353217"} ! neonatal epilepsy syndrome -is_a: MONDO:0100062 {source="DOID:0080349", source="OMIM:612949"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0080349", source="OMIM:612949"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10982 ! SLC25A12 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10982 {source="mim2gene_medgen"} ! SLC25A12 property_value: confidence "2.692307692307692" xsd:double @@ -262109,7 +262109,7 @@ xref: OMIM:613402 {source="MONDO:equivalentTo"} xref: Orphanet:228418 {source="MONDO:obsoleteEquivalent", source="GARD:0010933"} xref: UMLS:C3150667 {source="OMIM:613402", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0001149 {source="https://github.com/monarch-initiative/mondo/issues/1753"} ! microcephaly (disease) -is_a: MONDO:0100062 {source="DC-OMIM:613402", source="OMIM:613402"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:613402", source="OMIM:613402"} ! developmental and epileptic encephalopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9154 {source="mim2gene_medgen"} ! PNKP property_value: confidence "6.200000000000001" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10933/microcephaly-seizures-and-developmental-delay xsd:anyURI {source="GARD:0010933"} @@ -262588,7 +262588,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4697/reynolds [Term] id: MONDO:0013277 -name: developmental epileptic encephalopathy, 5 +name: developmental and epileptic encephalopathy, 5 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE5" EXACT [OMIM:613477] synonym: "early infantile epileptic encephalopathy caused by mutation in SPTAN1" EXACT [MONDO:design_pattern] @@ -262601,8 +262601,8 @@ xref: OMIM:613477 {source="MONDO:equivalentTo"} xref: Orphanet:3451 {source="MONDO:subClassOf", source="OMIM:613477"} xref: UMLS:C3150731 {source="OMIM:613477", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018097 {source="ORDO:3451/btnt"} ! West syndrome -is_a: MONDO:0100062 {source="DC-OMIM:613477", source="MONDO:Redundant", source="OMIM:613477"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:613477", source="MONDO:Redundant", source="OMIM:613477"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11273 ! SPTAN1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11273 {source="mim2gene_medgen"} ! SPTAN1 property_value: confidence "6.200000000000001" xsd:double @@ -264881,7 +264881,7 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/27 [Term] id: MONDO:0013387 -name: developmental epileptic encephalopathy, 7 +name: developmental and epileptic encephalopathy, 7 def: "KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability." [Orphanet:439218] subset: clingen subset: ordo_disease {source="Orphanet:439218"} @@ -264899,13 +264899,13 @@ xref: ICD10:G40.4 {source="Orphanet:439218", source="ORDO:439218/attributed", so xref: OMIM:613720 {source="Orphanet:439218", source="ORDO:439218/e", source="MONDO:equivalentTo"} xref: Orphanet:439218 {source="MONDO:equivalentTo"} xref: UMLS:C3150986 {source="NCBI:mim2gene_medline", source="OMIM:613720", source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="DC-OMIM:613720", source="OMIM:613720"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:613720", source="OMIM:613720"} ! developmental and epileptic encephalopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6296 {source="mim2gene_medgen"} ! KCNQ2 property_value: confidence "6.200000000000001" xsd:double [Term] id: MONDO:0013388 -name: developmental epileptic encephalopathy, 11 +name: developmental and epileptic encephalopathy, 11 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE11" EXACT [OMIM:613721] synonym: "early infantile epileptic encephalopathy caused by mutation in SCN2A" EXACT [MONDO:design_pattern] @@ -264916,15 +264916,15 @@ synonym: "epileptic encephalopathy, early infantile, type 11" EXACT [MONDORULE:2 synonym: "SCN2A early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:613721 {source="MONDO:equivalentTo"} xref: UMLS:C3150987 {source="OMIM:613721", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="DC-OMIM:613721", source="MONDO:Redundant", source="OMIM:613721"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:613721", source="MONDO:Redundant", source="OMIM:613721"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10588 ! SCN2A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10588 {source="mim2gene_medgen"} ! SCN2A property_value: confidence "6.200000000000001" xsd:double [Term] id: MONDO:0013389 -name: developmental epileptic encephalopathy, 12 +name: developmental and epileptic encephalopathy, 12 def: "Early Infantile Epileptic Encephalopathy type 12 (EIEE12) is an extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion." [https://rarediseases.info.nih.gov/diseases/13318/early-infantile-epileptic-encephalopathy-12] subset: gard_rare {source="GARD:0013318"} synonym: "DEE12" EXACT [OMIM:613722] @@ -264942,8 +264942,8 @@ xref: Orphanet:3451 {source="MONDO:subClassOf", source="OMIM:613722"} xref: UMLS:C3150988 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613722"} is_a: MONDO:0017385 {source="ORDO:293181/btnt"} ! malignant migrating partial seizures of infancy is_a: MONDO:0018097 {source="ORDO:3451/btnt"} ! West syndrome -is_a: MONDO:0100062 {source="DC-OMIM:613722", source="MONDO:Redundant", source="OMIM:613722"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:613722", source="MONDO:Redundant", source="OMIM:613722"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15917 ! PLCB1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15917 {source="mim2gene_medgen"} ! PLCB1 property_value: confidence "6.200000000000001" xsd:double @@ -273322,7 +273322,7 @@ property_value: confidence "3.0625" xsd:double [Term] id: MONDO:0013801 -name: developmental epileptic encephalopathy, 13 +name: developmental and epileptic encephalopathy, 13 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE13" EXACT [OMIM:614558] synonym: "early infantile epileptic encephalopathy caused by mutation in SCN8A" EXACT [MONDO:design_pattern] @@ -273339,8 +273339,8 @@ xref: OMIM:614558 {source="MONDO:equivalentTo"} xref: SCTID:765170001 {source="MONDO:equivalentTo"} xref: UMLS:C3281191 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614558"} is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy -is_a: MONDO:0100062 {source="DC-OMIM:614558", source="MONDO:Redundant", source="OMIM:614558"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:614558", source="MONDO:Redundant", source="OMIM:614558"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10596 ! SCN8A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10596 {source="mim2gene_medgen"} ! SCN8A property_value: confidence "6.200000000000001" xsd:double @@ -277138,7 +277138,7 @@ is_a: MONDO:0003847 ! Mendelian disease [Term] id: MONDO:0013989 -name: developmental epileptic encephalopathy, 14 +name: developmental and epileptic encephalopathy, 14 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE14" EXACT [OMIM:614959] synonym: "early infantile epileptic encephalopathy caused by mutation in KCNT1" EXACT [MONDO:design_pattern] @@ -277150,8 +277150,8 @@ synonym: "KCNT1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pa xref: OMIM:614959 {source="MONDO:equivalentTo"} xref: Orphanet:293181 {source="MONDO:subClassOf", source="OMIM:614959"} xref: UMLS:C3554195 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614959"} -is_a: MONDO:0100062 {source="DC-OMIM:614959", source="MONDO:Redundant", source="OMIM:614959"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:614959", source="MONDO:Redundant", source="OMIM:614959"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18865 ! KCNT1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18865 {source="mim2gene_medgen"} ! KCNT1 property_value: confidence "6.200000000000001" xsd:double @@ -277414,7 +277414,7 @@ property_value: confidence "4.0" xsd:double [Term] id: MONDO:0014003 -name: developmental epileptic encephalopathy, 15 +name: developmental and epileptic encephalopathy, 15 synonym: "DEE15" EXACT [OMIM:615006] synonym: "EIEE15" EXACT [MONDO:Lexical, OMIM:615006] synonym: "epileptic encephalopathy, early infantile, 15" EXACT [MONDO:Lexical, OMIM:615006] @@ -277424,7 +277424,7 @@ xref: OMIM:615006 {source="MONDO:equivalentTo"} xref: Orphanet:3451 {source="MONDO:subClassOf", source="OMIM:615006"} xref: UMLS:C3554316 {source="OMIM:615006", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018097 {source="ORDO:3451/btnt"} ! West syndrome -is_a: MONDO:0100062 {source="DC-OMIM:615006", source="OMIM:615006"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:615006", source="OMIM:615006"} ! developmental and epileptic encephalopathy property_value: confidence "6.200000000000001" xsd:double [Term] @@ -280115,7 +280115,7 @@ property_value: confidence "2.6923076923076925" xsd:double [Term] id: MONDO:0014133 -name: developmental epileptic encephalopathy, 16 +name: developmental and epileptic encephalopathy, 16 synonym: "DEE16" EXACT [OMIM:615338] synonym: "EIEE16" EXACT [MONDO:Lexical, OMIM:615338] synonym: "epileptic encephalopathy, early infantile, 16" EXACT [MONDO:Lexical, OMIM:615338] @@ -280126,7 +280126,7 @@ xref: Orphanet:293181 {source="MONDO:subClassOf", source="OMIM:615338"} xref: Orphanet:352596 {source="MONDO:relatedTo", source="OMIM:615338", source="MONDO:superClassOf"} xref: UMLS:C3809173 {source="OMIM:615338", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0017385 {source="ORDO:293181/btnt"} ! malignant migrating partial seizures of infancy -is_a: MONDO:0100062 {source="DC-OMIM:615338", source="OMIM:615338"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:615338", source="OMIM:615338"} ! developmental and epileptic encephalopathy property_value: confidence "6.200000000000001" xsd:double [Term] @@ -281457,7 +281457,7 @@ property_value: confidence "2.25" xsd:double [Term] id: MONDO:0014199 -name: developmental epileptic encephalopathy, 17 +name: developmental and epileptic encephalopathy, 17 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE17" EXACT [OMIM:615473] synonym: "early infantile epileptic encephalopathy caused by mutation in GNAO1" EXACT [MONDO:design_pattern] @@ -281471,8 +281471,8 @@ synonym: "GNAO1 encephalopathy" RELATED [GARD:0013378] xref: GARD:0013378 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: OMIM:615473 {source="MONDO:equivalentTo"} xref: UMLS:C3809606 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615473"} -is_a: MONDO:0100062 {source="DC-OMIM:615473", source="MONDO:Redundant", source="OMIM:615473"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:615473", source="MONDO:Redundant", source="OMIM:615473"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4389 ! GNAO1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4389 {source="mim2gene_medgen"} ! GNAO1 property_value: confidence "6.200000000000001" xsd:double @@ -281498,7 +281498,7 @@ property_value: confidence "2.692307692307692" xsd:double [Term] id: MONDO:0014201 -name: developmental epileptic encephalopathy, 18 +name: developmental and epileptic encephalopathy, 18 subset: ordo_disease {source="Orphanet:369894"} synonym: "DEE18" EXACT [OMIM:615476] synonym: "early infantile epileptic encephalopathy without suppression burst" EXACT [OMIM:615476] @@ -281512,7 +281512,7 @@ xref: Orphanet:369894 {source="OMIM:615476", source="MONDO:equivalentTo"} xref: UMLS:C3809624 {source="OMIM:615476", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:369894"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020071 {source="Orphanet:369894"} ! infantile epilepsy syndrome -is_a: MONDO:0100062 {source="DC-OMIM:615476", source="OMIM:615476"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:615476", source="OMIM:615476"} ! developmental and epileptic encephalopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29040 {source="mim2gene_medgen"} ! SZT2 property_value: confidence "2.692307692307692" xsd:double @@ -284134,7 +284134,7 @@ property_value: confidence "2.692307692307692" xsd:double [Term] id: MONDO:0014328 -name: developmental epileptic encephalopathy, 19 +name: developmental and epileptic encephalopathy, 19 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE19" EXACT [OMIM:615744] synonym: "Early Infantile epileptic encephalopathy 19" EXACT [NCIT:C142802] @@ -284148,8 +284148,8 @@ xref: NCIT:C142802 {source="MONDO:equivalentTo"} xref: OMIM:615744 {source="MONDO:equivalentTo"} xref: Orphanet:33069 {source="MONDO:subClassOf", source="OMIM:615744"} xref: UMLS:C3810400 {source="NCBI:mim2gene_medline", source="OMIM:615744", source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="MONDO:Redundant", source="NCIT:C142802", source="OMIM:615744", source="indirect"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="MONDO:Redundant", source="NCIT:C142802", source="OMIM:615744", source="indirect"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4075 ! GABRA1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4075 {source="mim2gene_medgen"} ! GABRA1 relationship: excluded_subClassOf MONDO:0100135 {source="ORDO:33069/btnt"} ! Dravet syndrome @@ -284755,7 +284755,7 @@ property_value: confidence "5.0" xsd:double [Term] id: MONDO:0014360 -name: developmental epileptic encephalopathy, 21 +name: developmental and epileptic encephalopathy, 21 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE21" EXACT [OMIM:615833] synonym: "early infantile epileptic encephalopathy caused by mutation in NECAP1" EXACT [MONDO:design_pattern] @@ -284767,8 +284767,8 @@ synonym: "NECAP1 early infantile epileptic encephalopathy" EXACT [MONDO:design_p xref: OMIM:615833 {source="MONDO:equivalentTo"} xref: UMLS:C4014430 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy -is_a: MONDO:0100062 {source="DC-OMIM:615833", source="MONDO:Redundant", source="OMIM:615833"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:615833", source="MONDO:Redundant", source="OMIM:615833"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24539 ! NECAP1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24539 {source="mim2gene_medgen"} ! NECAP1 property_value: confidence "6.200000000000001" xsd:double @@ -284979,7 +284979,7 @@ property_value: confidence "28.000000000000046" xsd:double [Term] id: MONDO:0014371 -name: developmental epileptic encelphalopathy, 23 +name: developmental and epileptic encephalopathy, 23 subset: ordo_malformation_syndrome {source="Orphanet:411986"} synonym: "DEE18" EXACT [OMIM:615859] synonym: "early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome" EXACT [OMIM:615859] @@ -284996,7 +284996,7 @@ is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:411986", source= is_a: MONDO:0015159 {source="Orphanet:411986"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015653 {source="Orphanet:411986", source="indirect"} ! monogenic epilepsy is_a: MONDO:0020262 {source="Orphanet:411986"} ! nervous system anomaly with eye involvement -is_a: MONDO:0100062 {source="DC-OMIM:615859", source="OMIM:615859"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:615859", source="OMIM:615859"} ! developmental and epileptic encephalopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19190 {source="mim2gene_medgen"} ! DOCK7 relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare property_value: confidence "8.333333333333334" xsd:double @@ -285107,7 +285107,7 @@ property_value: confidence "1.258011707790705" xsd:double [Term] id: MONDO:0014377 -name: developmental epileptic encephalopathy, 24 +name: developmental and epileptic encephalopathy, 24 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE24" EXACT [OMIM:615871] synonym: "early infantile epileptic encephalopathy caused by mutation in HCN1" EXACT [MONDO:design_pattern] @@ -285119,8 +285119,8 @@ synonym: "HCN1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pat xref: OMIM:615871 {source="MONDO:equivalentTo"} xref: UMLS:C4014531 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy -is_a: MONDO:0100062 {source="DC-OMIM:615871", source="MONDO:Redundant", source="OMIM:615871"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:615871", source="MONDO:Redundant", source="OMIM:615871"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4845 ! HCN1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4845 {source="mim2gene_medgen"} ! HCN1 property_value: confidence "6.200000000000001" xsd:double @@ -285426,7 +285426,7 @@ property_value: confidence "2.692307692307692" xsd:double [Term] id: MONDO:0014392 -name: developmental epileptic encephalopathy, 25 +name: developmental and epileptic encephalopathy, 25 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0012901"} synonym: "DEE25" EXACT [OMIM:615905] @@ -285443,8 +285443,8 @@ xref: OMIM:615905 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="MONDO:subClassOf", source="GARD:0012901"} xref: UMLS:C4014621 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy -is_a: MONDO:0100062 {source="DC-OMIM:615905", source="MONDO:Redundant", source="OMIM:615905"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:615905", source="MONDO:Redundant", source="OMIM:615905"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23089 ! SLC13A5 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23089 {source="mim2gene_medgen"} ! SLC13A5 property_value: confidence "6.200000000000001" xsd:double @@ -287211,7 +287211,7 @@ property_value: confidence "1.333333333333333" xsd:double [Term] id: MONDO:0014477 -name: developmental epileptic encephalopathy, 26 +name: developmental and epileptic encephalopathy, 26 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0012391"} synonym: "DEE26" EXACT [OMIM:616056] @@ -287226,8 +287226,8 @@ xref: GARD:0012391 {source="MONDO:equivalentTo"} xref: OMIM:616056 {source="MONDO:equivalentTo"} xref: UMLS:C4015119 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy -is_a: MONDO:0100062 {source="DC-OMIM:616056", source="MONDO:Redundant", source="OMIM:616056"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:616056", source="MONDO:Redundant", source="OMIM:616056"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6231 ! KCNB1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6231 {source="mim2gene_medgen"} ! KCNB1 property_value: confidence "6.200000000000001" xsd:double @@ -287779,7 +287779,7 @@ property_value: confidence "1.4822000130642108" xsd:double [Term] id: MONDO:0014505 -name: developmental epileptic encephalopathy, 27 +name: developmental and epileptic encephalopathy, 27 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE27" EXACT [OMIM:616139] synonym: "early infantile epileptic encephalopathy caused by mutation in GRIN2B" EXACT [MONDO:design_pattern] @@ -287792,8 +287792,8 @@ xref: OMIM:616139 {source="MONDO:equivalentTo"} xref: Orphanet:3451 {source="MONDO:subClassOf", source="OMIM:616139"} xref: UMLS:C4015316 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018097 {source="ORDO:3451/btnt"} ! West syndrome -is_a: MONDO:0100062 {source="DC-OMIM:616139", source="MONDO:Redundant", source="OMIM:616139"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:616139", source="MONDO:Redundant", source="OMIM:616139"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4586 ! GRIN2B relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4586 {source="mim2gene_medgen"} ! GRIN2B property_value: confidence "6.200000000000001" xsd:double @@ -288390,7 +288390,7 @@ property_value: confidence "2.692307692307692" xsd:double [Term] id: MONDO:0014533 -name: developmental epileptic encephalopathy, 28 +name: developmental and epileptic encephalopathy, 28 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE28" EXACT [OMIM:616211] synonym: "early infantile epileptic encephalopathy caused by mutation in WWOX" EXACT [MONDO:design_pattern] @@ -288402,8 +288402,8 @@ synonym: "WWOX early infantile epileptic encephalopathy" EXACT [MONDO:design_pat xref: OMIM:616211 {source="MONDO:equivalentTo"} xref: UMLS:C4015519 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy -is_a: MONDO:0100062 {source="DC-OMIM:616211", source="MONDO:Redundant", source="OMIM:616211"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:616211", source="MONDO:Redundant", source="OMIM:616211"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12799 ! WWOX relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12799 {source="mim2gene_medgen"} ! WWOX property_value: confidence "6.200000000000001" xsd:double @@ -289635,7 +289635,7 @@ property_value: confidence "2.25" xsd:double [Term] id: MONDO:0014593 -name: developmental epileptic encephalopathy, 29 +name: developmental and epileptic encephalopathy, 29 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene." [MONDO:patterns/disease_series_by_gene] synonym: "AARS early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DEE29" EXACT [OMIM:616339] @@ -289647,8 +289647,8 @@ synonym: "epileptic encephalopathy, early infantile, type 29" EXACT [MONDORULE:2 xref: OMIM:616339 {source="MONDO:equivalentTo"} xref: UMLS:C4225361 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy -is_a: MONDO:0100062 {source="DC-OMIM:616339", source="MONDO:Redundant", source="OMIM:616339"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:616339", source="MONDO:Redundant", source="OMIM:616339"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20 ! AARS1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20 {source="mim2gene_medgen"} ! AARS1 property_value: confidence "6.200000000000001" xsd:double @@ -289676,7 +289676,7 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15 [Term] id: MONDO:0014595 -name: developmental epileptic encephalopathy, 30 +name: developmental and epileptic encephalopathy, 30 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE30" EXACT [OMIM:616341] synonym: "early infantile epileptic encephalopathy caused by mutation in SIK1" EXACT [MONDO:design_pattern] @@ -289691,8 +289691,8 @@ xref: Orphanet:3451 {source="MONDO:subClassOf", source="OMIM:616341"} xref: UMLS:C4225360 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016022 {source="ORDO:1935/btnt"} ! early myoclonic encephalopathy is_a: MONDO:0018097 {source="ORDO:3451/btnt"} ! West syndrome -is_a: MONDO:0100062 {source="DC-OMIM:616341", source="MONDO:Redundant", source="OMIM:616341"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:616341", source="MONDO:Redundant", source="OMIM:616341"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11142 ! SIK1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11142 {source="mim2gene_medgen"} ! SIK1 property_value: confidence "6.200000000000001" xsd:double @@ -289728,7 +289728,7 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/61 [Term] id: MONDO:0014598 -name: developmental epileptic encephalopathy, 31 +name: developmental and epileptic encephalopathy, 31 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE31" EXACT [OMIM:616346] synonym: "DNM1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -289742,8 +289742,8 @@ xref: Orphanet:2382 {source="MONDO:subClassOf", source="OMIM:616346"} xref: UMLS:C4225357 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016532 {source="ORDO:2382/btnt"} ! Lennox-Gastaut syndrome is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy -is_a: MONDO:0100062 {source="DC-OMIM:616346", source="MONDO:Redundant", source="OMIM:616346"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:616346", source="MONDO:Redundant", source="OMIM:616346"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2972 ! DNM1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2972 {source="mim2gene_medgen"} ! DNM1 property_value: confidence "6.200000000000001" xsd:double @@ -289935,7 +289935,7 @@ property_value: confidence "0.9166666666666667" xsd:double [Term] id: MONDO:0014607 -name: developmental epileptic encephalopathy, 32 +name: developmental and epileptic encephalopathy, 32 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen synonym: "DEE32" EXACT [] @@ -289948,8 +289948,8 @@ synonym: "KCNA2 early infantile epileptic encephalopathy" EXACT [MONDO:design_pa xref: OMIM:616366 {source="MONDO:equivalentTo"} xref: UMLS:C4225350 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy -is_a: MONDO:0100062 {source="DC-OMIM:616366", source="MONDO:Redundant", source="OMIM:616366"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:616366", source="MONDO:Redundant", source="OMIM:616366"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6220 ! KCNA2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6220 {source="mim2gene_medgen"} ! KCNA2 property_value: confidence "6.200000000000001" xsd:double @@ -290278,7 +290278,7 @@ relationship: disease_has_location UBERON:0006321 ! superior oblique extraocular [Term] id: MONDO:0014625 -name: developmental epileptic encephalopathy, 33 +name: developmental and epileptic encephalopathy, 33 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE33" EXACT [OMIM:616366] synonym: "early infantile epileptic encephalopathy caused by mutation in EEF1A2" EXACT [MONDO:design_pattern] @@ -290290,8 +290290,8 @@ synonym: "epileptic encephalopathy, early infantile, type 33" EXACT [MONDORULE:2 xref: OMIM:616409 {source="MONDO:equivalentTo"} xref: UMLS:C4225337 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy -is_a: MONDO:0100062 {source="DC-OMIM:616409", source="MONDO:Redundant", source="OMIM:616409"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:616409", source="MONDO:Redundant", source="OMIM:616409"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3192 ! EEF1A2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3192 {source="mim2gene_medgen"} ! EEF1A2 property_value: confidence "6.200000000000001" xsd:double @@ -290699,7 +290699,7 @@ property_value: confidence "4.2" xsd:double [Term] id: MONDO:0014647 -name: developmental epileptic encephalopathy, 50 +name: developmental and epileptic encephalopathy, 50 subset: ordo_disease {source="Orphanet:448010"} synonym: "CAD-CDG" EXACT [Orphanet:448010] synonym: "carbohydrate deficient glycoprotein syndrome type Iz" EXACT [Orphanet:448010] @@ -290721,7 +290721,7 @@ xref: UMLS:C4225320 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo" is_a: MONDO:0005500 {source="DC-OMIM:616457"} ! congenital disorder of glycosylation type I is_a: MONDO:0017749 {source="Orphanet:448010"} ! disorder of multiple glycosylation is_a: MONDO:0019238 {source="Orphanet:448010"} ! inborn disorder of pyrimidine metabolism -is_a: MONDO:0100062 {source="OMIM:616457"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:616457"} ! developmental and epileptic encephalopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1424 {source="mim2gene_medgen"} ! CAD property_value: confidence "2.846153846153847" xsd:double @@ -292114,7 +292114,7 @@ property_value: confidence "2.692307692307692" xsd:double [Term] id: MONDO:0014718 -name: developmental epileptic encephalopathy, 34 +name: developmental and epileptic encephalopathy, 34 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE34" EXACT [OMIM:616645] synonym: "early infantile epileptic encephalopathy caused by mutation in SLC12A5" EXACT [MONDO:design_pattern] @@ -292126,15 +292126,15 @@ synonym: "SLC12A5 early infantile epileptic encephalopathy" EXACT [MONDO:design_ xref: OMIM:616645 {source="MONDO:equivalentTo"} xref: UMLS:C4225257 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0017385 {source="ORDO:293181/btnt"} ! malignant migrating partial seizures of infancy -is_a: MONDO:0100062 {source="DC-OMIM:616645", source="MONDO:Redundant", source="OMIM:616645"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:616645", source="MONDO:Redundant", source="OMIM:616645"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13818 ! SLC12A5 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13818 {source="mim2gene_medgen"} ! SLC12A5 property_value: confidence "6.200000000000001" xsd:double [Term] id: MONDO:0014719 -name: developmental epileptic encephalopathy, 35 +name: developmental and epileptic encephalopathy, 35 subset: ordo_disease {source="Orphanet:457375"} synonym: "DEE35" EXACT [OMIM:616647] synonym: "EIEE35" EXACT [OMIM:616647] @@ -292150,7 +292150,7 @@ is_a: MONDO:0016406 {source="Orphanet:457375"} ! other metabolic disease with ep is_a: MONDO:0019058 {source="Orphanet:457375"} ! neurometabolic disease is_a: MONDO:0019236 {source="Orphanet:457375"} ! inborn disorder of purine metabolism is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:457375"} ! inherited neurodegenerative disorder -is_a: MONDO:0100062 {source="DC-OMIM:616647", source="OMIM:616647"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:616647", source="OMIM:616647"} ! developmental and epileptic encephalopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6176 {source="mim2gene_medgen"} ! ITPA property_value: confidence "2.692307692307692" xsd:double @@ -294845,7 +294845,7 @@ relationship: has_modifier HP:0000006 ! Autosomal dominant inheritance [Term] id: MONDO:0014859 -name: developmental epileptic encephalopathy, 37 +name: developmental and epileptic encephalopathy, 37 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE37" EXACT [OMIM:616981] synonym: "early infantile epileptic encephalopathy caused by mutation in FRRS1L" EXACT [MONDO:design_pattern] @@ -294856,8 +294856,8 @@ synonym: "epileptic encephalopathy, early infantile, type 37" EXACT [MONDORULE:2 synonym: "FRRS1L early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:616981 {source="MONDO:equivalentTo"} xref: UMLS:C4310770 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="DC-OMIM:616981", source="MONDO:Redundant", source="OMIM:616981"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:616981", source="MONDO:Redundant", source="OMIM:616981"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1362 ! FRRS1L relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1362 {source="mim2gene_medgen"} ! FRRS1L @@ -295018,7 +295018,7 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/71 [Term] id: MONDO:0014868 -name: developmental epileptic encephalopathy, 38 +name: developmental and epileptic encephalopathy, 38 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ARV1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DEE38" EXACT [OMIM:617020] @@ -295029,8 +295029,8 @@ synonym: "epileptic encephalopathy, early infantile, 38; EIEE38" EXACT [MONDOLEX synonym: "epileptic encephalopathy, early infantile, type 38" EXACT [MONDORULE:2, OMIM:617020] xref: OMIM:617020 {source="MONDO:equivalentTo"} xref: UMLS:C4310762 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="DC-OMIM:617020", source="MONDO:Redundant", source="OMIM:617020"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:617020", source="MONDO:Redundant", source="OMIM:617020"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29561 ! ARV1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29561 {source="mim2gene_medgen"} ! ARV1 @@ -295520,7 +295520,7 @@ property_value: confidence "4.714285714285715" xsd:double [Term] id: MONDO:0014895 -name: developmental epileptic encephalopathy, 40 +name: developmental and epileptic encephalopathy, 40 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE40" EXACT [] {EXACT="OMIM:617065"} synonym: "early infantile epileptic encephalopathy caused by mutation in GUF1" EXACT [MONDO:design_pattern] @@ -295532,8 +295532,8 @@ synonym: "GUF1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pat xref: OMIM:617065 {source="MONDO:equivalentTo"} xref: UMLS:C4310737 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018097 {source="ORDO:3451/btnt"} ! West syndrome -is_a: MONDO:0100062 {source="DC-OMIM:617065", source="MONDO:Redundant", source="OMIM:617065"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:617065", source="MONDO:Redundant", source="OMIM:617065"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25799 ! GUF1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25799 {source="mim2gene_medgen"} ! GUF1 property_value: confidence "6.200000000000001" xsd:double @@ -295889,7 +295889,7 @@ property_value: confidence "2.47142857142857" xsd:double [Term] id: MONDO:0014916 -name: developmental epileptic encephalopathy, 41 +name: developmental and epileptic encephalopathy, 41 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE41" EXACT [OMIM:617105] synonym: "early infantile epileptic encephalopathy caused by mutation in SLC1A2" EXACT [MONDO:design_pattern] @@ -295902,15 +295902,15 @@ xref: OMIM:617105 {source="MONDO:equivalentTo"} xref: UMLS:C4310717 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016022 {source="ORDO:1935/btnt"} ! early myoclonic encephalopathy is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy -is_a: MONDO:0100062 {source="DC-OMIM:617105", source="MONDO:Redundant", source="OMIM:617105"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:617105", source="MONDO:Redundant", source="OMIM:617105"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10940 ! SLC1A2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10940 {source="mim2gene_medgen"} ! SLC1A2 property_value: confidence "6.200000000000001" xsd:double [Term] id: MONDO:0014917 -name: developmental epileptic encephalopathy, 42 +name: developmental and epileptic encephalopathy, 42 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene." [MONDO:patterns/disease_series_by_gene] synonym: "CACNA1A early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DEE42" EXACT [OMIM:617106] @@ -295922,8 +295922,8 @@ synonym: "epileptic encephalopathy, early infantile, type 42" EXACT [MONDORULE:2 xref: OMIM:617106 {source="MONDO:equivalentTo"} xref: UMLS:C4310716 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy -is_a: MONDO:0100062 {source="DC-OMIM:617106", source="MONDO:Redundant", source="OMIM:617106"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:617106", source="MONDO:Redundant", source="OMIM:617106"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1388 ! CACNA1A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1388 {source="mim2gene_medgen"} ! CACNA1A property_value: confidence "6.200000000000001" xsd:double @@ -295984,7 +295984,7 @@ property_value: confidence "0.9166666666666667" xsd:double [Term] id: MONDO:0014921 -name: developmental epileptic encephalopathy, 43 +name: developmental and epileptic encephalopathy, 43 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE43" EXACT [OMIM:617113] synonym: "early infantile epileptic encephalopathy caused by mutation in GABRB3" EXACT [MONDO:design_pattern] @@ -295996,8 +295996,8 @@ synonym: "GABRB3 early infantile epileptic encephalopathy" EXACT [MONDO:design_p xref: OMIM:617113 {source="MONDO:equivalentTo"} xref: UMLS:C4310712 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016532 {source="ORDO:2382/btnt"} ! Lennox-Gastaut syndrome -is_a: MONDO:0100062 {source="DC-OMIM:617113", source="MONDO:Redundant", source="OMIM:617113"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:617113", source="MONDO:Redundant", source="OMIM:617113"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4083 ! GABRB3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4083 {source="mim2gene_medgen"} ! GABRB3 property_value: confidence "6.200000000000001" xsd:double @@ -296199,7 +296199,7 @@ property_value: confidence "0.5677052714089748" xsd:double [Term] id: MONDO:0014933 -name: developmental epileptic encephalopathy, 44 +name: developmental and epileptic encephalopathy, 44 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE44" EXACT [OMIM:617132] synonym: "early infantile epileptic encephalopathy caused by mutation in UBA5" EXACT [MONDO:design_pattern] @@ -296211,8 +296211,8 @@ synonym: "UBA5 early infantile epileptic encephalopathy" EXACT [MONDO:design_pat xref: OMIM:617132 {source="MONDO:equivalentTo"} xref: UMLS:C4310700 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy -is_a: MONDO:0100062 {source="DC-OMIM:617132", source="MONDO:Redundant", source="OMIM:617132"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:617132", source="MONDO:Redundant", source="OMIM:617132"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23230 ! UBA5 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23230 {source="mim2gene_medgen"} ! UBA5 property_value: confidence "6.200000000000001" xsd:double @@ -296355,7 +296355,7 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26 [Term] id: MONDO:0014942 -name: developmental epileptic encephalopathy, 45 +name: developmental and epileptic encephalopathy, 45 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE45" EXACT [] {EXACT="OMIM:617153"} synonym: "early infantile epileptic encephalopathy caused by mutation in GABRB1" EXACT [MONDO:design_pattern] @@ -296367,8 +296367,8 @@ synonym: "GABRB1 early infantile epileptic encephalopathy" EXACT [MONDO:design_p xref: OMIM:617153 {source="MONDO:equivalentTo"} xref: UMLS:C4310691 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy -is_a: MONDO:0100062 {source="DC-OMIM:617153", source="MONDO:Redundant", source="OMIM:617153"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:617153", source="MONDO:Redundant", source="OMIM:617153"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4081 ! GABRB1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4081 {source="mim2gene_medgen"} ! GABRB1 property_value: confidence "6.200000000000001" xsd:double @@ -296436,7 +296436,7 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19 [Term] id: MONDO:0014947 -name: developmental epileptic encephalopathy, 46 +name: developmental and epileptic encephalopathy, 46 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE46" EXACT [OMIM:617162] synonym: "early infantile epileptic encephalopathy caused by mutation in GRIN2D" EXACT [MONDO:design_pattern] @@ -296448,8 +296448,8 @@ synonym: "GRIN2D early infantile epileptic encephalopathy" EXACT [MONDO:design_p xref: OMIM:617162 {source="MONDO:equivalentTo"} xref: UMLS:C4310687 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy -is_a: MONDO:0100062 {source="DC-OMIM:617162", source="MONDO:Redundant", source="OMIM:617162"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:617162", source="MONDO:Redundant", source="OMIM:617162"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4588 ! GRIN2D relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4588 {source="mim2gene_medgen"} ! GRIN2D property_value: confidence "6.200000000000001" xsd:double @@ -296467,7 +296467,7 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/64 [Term] id: MONDO:0014949 -name: developmental epileptic encephalopathy, 47 +name: developmental and epileptic encephalopathy, 47 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE47" EXACT [OMIM:617166] synonym: "early infantile epileptic encephalopathy caused by mutation in FGF12" EXACT [MONDO:design_pattern] @@ -296479,8 +296479,8 @@ synonym: "FGF12 early infantile epileptic encephalopathy" EXACT [MONDO:design_pa xref: OMIM:617166 {source="MONDO:equivalentTo"} xref: UMLS:C4310685 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy -is_a: MONDO:0100062 {source="DC-OMIM:617166", source="MONDO:Redundant", source="OMIM:617166"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:617166", source="MONDO:Redundant", source="OMIM:617166"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3668 ! FGF12 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3668 {source="mim2gene_medgen"} ! FGF12 property_value: confidence "6.200000000000001" xsd:double @@ -297275,7 +297275,7 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17 [Term] id: MONDO:0015000 -name: developmental epileptic encephalopathy, 48 +name: developmental and epileptic encephalopathy, 48 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "AP3B2 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DEE48" EXACT [OMIM:617276] @@ -297286,8 +297286,8 @@ synonym: "epileptic encephalopathy, early infantile, 48; EIEE48" EXACT [MONDOLEX synonym: "epileptic encephalopathy, early infantile, type 48" EXACT [MONDORULE:2, OMIM:617276] xref: OMIM:617276 {source="MONDO:equivalentTo"} xref: UMLS:C4310637 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="DC-OMIM:617276", source="MONDO:Redundant", source="OMIM:617276"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:617276", source="MONDO:Redundant", source="OMIM:617276"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/567 ! AP3B2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/567 {source="mim2gene_medgen"} ! AP3B2 property_value: confidence "6.200000000000001" xsd:double @@ -297311,7 +297311,7 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/75 [Term] id: MONDO:0015002 -name: developmental epileptic encephalopathy, 49 +name: developmental and epileptic encephalopathy, 49 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE49" EXACT [OMIM:617281] synonym: "DENND5A early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -297322,8 +297322,8 @@ synonym: "epileptic encephalopathy, early infantile, 49; EIEE49" EXACT [MONDOLEX synonym: "epileptic encephalopathy, early infantile, type 49" EXACT [MONDORULE:2, OMIM:617281] xref: OMIM:617281 {source="MONDO:equivalentTo"} xref: UMLS:C4310635 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="DC-OMIM:617281", source="MONDO:Redundant", source="OMIM:617281"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:617281", source="MONDO:Redundant", source="OMIM:617281"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19344 ! DENND5A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19344 {source="mim2gene_medgen"} ! DENND5A property_value: confidence "6.200000000000001" xsd:double @@ -297675,7 +297675,7 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26 [Term] id: MONDO:0015025 -name: developmental epileptic encephalopathy, 51 +name: developmental and epileptic encephalopathy, 51 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DEE51" EXACT [OMIM:617339] synonym: "early infantile epileptic encephalopathy caused by mutation in MDH2" EXACT [MONDO:design_pattern] @@ -297687,8 +297687,8 @@ synonym: "MDH2 early infantile epileptic encephalopathy" EXACT [MONDO:design_pat xref: OMIM:617339 {source="MONDO:equivalentTo"} xref: UMLS:C4479208 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:CN240510 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="DC-OMIM:617339", source="MONDO:Redundant", source="OMIM:617339"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:617339", source="MONDO:Redundant", source="OMIM:617339"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6971 ! MDH2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6971 {source="mim2gene_medgen"} ! MDH2 property_value: confidence "6.200000000000001" xsd:double @@ -414326,13 +414326,13 @@ is_a: MONDO:0019587 {source="OMIM:618140"} ! autosomal dominant nonsyndromic dea [Term] id: MONDO:0029138 -name: developmental epileptic encephalopathy, 67 +name: developmental and epileptic encephalopathy, 67 synonym: "DEE67" EXACT [OMIM:618141] synonym: "EIEE67" EXACT [OMIM:618141] synonym: "epileptic encephalopathy, early infantile, 67" EXACT [OMIM:618141] synonym: "epileptic encephalopathy, early infantile, 67; EIEE67" EXACT [OMIM:618141] xref: OMIM:618141 {source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="OMIM:618141"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:618141"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0029140 @@ -414772,13 +414772,13 @@ is_a: MONDO:0003847 ! Mendelian disease [Term] id: MONDO:0030054 -name: developmental epileptic encephalopathy, 86 +name: developmental and epileptic encephalopathy, 86 synonym: "DEE86" EXACT [OMIM:618910] synonym: "EIEE86" EXACT ABBREVIATION [OMIM:618910] synonym: "epileptic encephalopathy, early infantile, 86" EXACT [OMIM:618910] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86; EIEE86" EXACT [OMIM:618910] xref: OMIM:618910 {source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="OMIM:618910"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:618910"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0030055 @@ -414820,13 +414820,13 @@ is_a: MONDO:0019587 {source="OMIM:618915"} ! autosomal dominant nonsyndromic dea [Term] id: MONDO:0030059 -name: developmental epileptic encephalopathy, 87 +name: developmental and epileptic encephalopathy, 87 synonym: "DEE87" EXACT [OMIM:618916] synonym: "EIEE87" EXACT ABBREVIATION [OMIM:618916] synonym: "epileptic encephalopathy, early infantile, 87" EXACT [OMIM:618916] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87; EIEE87" EXACT [OMIM:618916] xref: OMIM:618916 {source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="OMIM:618916"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:618916"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0030060 @@ -414931,13 +414931,13 @@ is_a: MONDO:0003847 ! Mendelian disease [Term] id: MONDO:0030072 -name: developmental epileptic encephalopathy, 88 +name: developmental and epileptic encephalopathy, 88 synonym: "DEE88" EXACT [OMIM:618959] synonym: "EIEE88" EXACT ABBREVIATION [OMIM:618959] synonym: "epileptic encephalopathy, early infantile, 88" EXACT [OMIM:618959] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 88; EIEE88" EXACT [OMIM:618959] xref: OMIM:618959 {source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="OMIM:618959"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:618959"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0030073 @@ -415791,7 +415791,7 @@ is_a: MONDO:0018940 {source="OMIM:618198"} ! congenital myasthenic syndrome [Term] id: MONDO:0032598 -name: developmental epileptic encephalopathy, 68 +name: developmental and epileptic encephalopathy, 68 synonym: "DEE68" EXACT [OMIM:618201] synonym: "epileptic encephalopathy, early infantile, 68" EXACT [OMIM:618201] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68; EIEE68" EXACT [OMIM:618201] @@ -415799,7 +415799,7 @@ xref: OMIM:618201 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="OMIM:618201"} xref: UMLS:C4748688 {source="OMIM:618201"} is_a: MONDO:0003847 {source="OMIM:618201"} ! Mendelian disease -is_a: MONDO:0100062 {source="OMIM:618201"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:618201"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0032599 @@ -416332,14 +416332,14 @@ is_a: MONDO:0003847 {source="OMIM:618284"} ! Mendelian disease [Term] id: MONDO:0032657 -name: developmental epileptic encephalopathy, 69 +name: developmental and epileptic encephalopathy, 69 synonym: "DEE69" EXACT [OMIM:618285] synonym: "epileptic encephalopathy, early infantile, 69" EXACT [OMIM:618285] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69; EIEE69" EXACT [OMIM:618285] xref: OMIM:618285 {source="MONDO:equivalentTo"} xref: UMLS:C4748988 {source="OMIM:618285"} is_a: MONDO:0003847 {source="OMIM:618285"} ! Mendelian disease -is_a: MONDO:0100062 {source="OMIM:618285"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:618285"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0032658 @@ -416388,7 +416388,7 @@ is_a: MONDO:0019502 {source="OMIM:618295"} ! autosomal recessive non-syndromic i [Term] id: MONDO:0032663 -name: developmental epileptic encephalopathy, 70 +name: developmental and epileptic encephalopathy, 70 synonym: "DEE70" EXACT [OMIM:618298] synonym: "epileptic encephalopathy, early infantile, 70" EXACT [OMIM:618298] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70; EIEE70" EXACT [OMIM:618298] @@ -416396,7 +416396,7 @@ xref: OMIM:618298 {source="MONDO:equivalentTo"} xref: Orphanet:3451 {source="OMIM:618298"} xref: UMLS:C4749023 {source="OMIM:618298"} is_a: MONDO:0003847 {source="OMIM:618298"} ! Mendelian disease -is_a: MONDO:0100062 {source="OMIM:618298"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:618298"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0032664 @@ -416507,7 +416507,7 @@ is_a: MONDO:0018838 {source="OMIM:618325"} ! lissencephaly spectrum disorders [Term] id: MONDO:0032678 -name: developmental epileptic encephalopathy, 71 +name: developmental and epileptic encephalopathy, 71 synonym: "DEE71" EXACT [OMIM:618328] synonym: "epileptic encephalopathy, early infantile, 71" EXACT [OMIM:618328] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71; EIEE71" EXACT [OMIM:618328] @@ -416516,7 +416516,7 @@ xref: OMIM:618328 {source="MONDO:equivalentTo"} xref: Orphanet:557064 {source="OMIM:618328"} xref: UMLS:C5193030 {source="OMIM:618328"} is_a: MONDO:0003847 {source="OMIM:618328"} ! Mendelian disease -is_a: MONDO:0100062 {source="OMIM:618328"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:618328"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0032679 @@ -416726,14 +416726,14 @@ is_a: MONDO:0003847 {source="OMIM:618371"} ! Mendelian disease [Term] id: MONDO:0032710 -name: developmental epileptic encephalopathy, 72 +name: developmental and epileptic encephalopathy, 72 synonym: "DEE72" EXACT [OMIM:618374] synonym: "epileptic encephalopathy, early infantile, 72" EXACT [OMIM:618374] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72; EIEE72" EXACT [OMIM:618374] xref: OMIM:618374 {source="MONDO:equivalentTo"} xref: UMLS:C5193063 {source="OMIM:618374"} is_a: MONDO:0003847 {source="OMIM:618374"} ! Mendelian disease -is_a: MONDO:0100062 {source="OMIM:618374"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:618374"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0032712 @@ -416812,7 +416812,7 @@ is_a: MONDO:0019675 {source="OMIM:618395"} ! spondyloepimetaphyseal dysplasia wi [Term] id: MONDO:0032725 -name: developmental epileptic encephalopathy, 74 +name: developmental and epileptic encephalopathy, 74 synonym: "DEE74" EXACT [OMIM:618396] synonym: "epileptic encephalopathy, early infantile, 74" EXACT [OMIM:618396] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74; EIEE74" EXACT [OMIM:618396] @@ -416820,7 +416820,7 @@ xref: OMIM:618396 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="OMIM:618396"} xref: UMLS:C5193074 {source="OMIM:618396"} is_a: MONDO:0003847 {source="OMIM:618396"} ! Mendelian disease -is_a: MONDO:0100062 {source="OMIM:618396"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:618396"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0032726 @@ -417035,7 +417035,7 @@ is_a: MONDO:0019942 {source="OMIM:618436"} ! distal arthrogryposis [Term] id: MONDO:0032752 -name: developmental epileptic encephalopathy, 75 +name: developmental and epileptic encephalopathy, 75 synonym: "DEE75" EXACT [OMIM:618437] synonym: "epileptic encephalopathy, early infantile, 75" EXACT [OMIM:618437] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75; EIEE75" EXACT [OMIM:618437] @@ -417043,7 +417043,7 @@ xref: OMIM:618437 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="OMIM:618437"} xref: UMLS:C5193099 {source="OMIM:618437"} is_a: MONDO:0003847 {source="OMIM:618437"} ! Mendelian disease -is_a: MONDO:0100062 {source="OMIM:618437"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:618437"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0032753 @@ -417177,7 +417177,7 @@ is_a: MONDO:0003847 {source="OMIM:618464"} ! Mendelian disease [Term] id: MONDO:0032768 -name: developmental epileptic encephalopathy, 76 +name: developmental and epileptic encephalopathy, 76 synonym: "DEE76" EXACT [OMIM:618468] synonym: "Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination" RELATED [OMIM:618468] synonym: "epileptic encephalopathy, early infantile, 76" EXACT [OMIM:618468] @@ -417186,7 +417186,7 @@ xref: OMIM:618468 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="OMIM:618468"} xref: UMLS:C5193113 {source="OMIM:618468"} is_a: MONDO:0003847 {source="OMIM:618468"} ! Mendelian disease -is_a: MONDO:0100062 {source="OMIM:618468"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:618468"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0032770 @@ -417542,7 +417542,7 @@ is_a: MONDO:0003847 {source="OMIM:618547"} ! Mendelian disease [Term] id: MONDO:0032808 -name: developmental epileptic encephalopathy, 77 +name: developmental and epileptic encephalopathy, 77 synonym: "DEE77" EXACT [OMIM:618548] synonym: "epileptic encephalopathy, early infantile, 77" EXACT [OMIM:618548] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 77; EIEE77" EXACT [OMIM:618548] @@ -417550,7 +417550,7 @@ synonym: "Glycosylphosphatidylinositol Biosynthesis Defect 19" RELATED [OMIM:618 xref: OMIM:618548 {source="MONDO:equivalentTo"} xref: Orphanet:1934 {source="OMIM:618548"} is_a: MONDO:0003847 {source="OMIM:618548"} ! Mendelian disease -is_a: MONDO:0100062 {source="OMIM:618548"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:618548"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0032809 @@ -417578,25 +417578,25 @@ is_a: MONDO:0016293 {source="OMIM:618555"} ! congenital stationary night blindne [Term] id: MONDO:0032812 -name: developmental epileptic encephalopathy, 78 +name: developmental and epileptic encephalopathy, 78 synonym: "DEE78" EXACT [OMIM:618557] synonym: "epileptic encephalopathy, early infantile, 78" EXACT [OMIM:618557] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78; EIEE78" EXACT [OMIM:618557] xref: OMIM:618557 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="OMIM:618557"} is_a: MONDO:0003847 {source="OMIM:618557"} ! Mendelian disease -is_a: MONDO:0100062 {source="OMIM:618557"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:618557"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0032813 -name: developmental epileptic encephalopathy, 79 +name: developmental and epileptic encephalopathy, 79 synonym: "DEE79" EXACT [OMIM:618559] synonym: "epileptic encephalopathy, early infantile, 79" EXACT [OMIM:618559] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79; EIEE79" EXACT [OMIM:618559] xref: OMIM:618559 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="OMIM:618559"} is_a: MONDO:0003847 {source="OMIM:618559"} ! Mendelian disease -is_a: MONDO:0100062 {source="OMIM:618559"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:618559"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0032814 @@ -417663,14 +417663,14 @@ is_a: MONDO:0003847 {source="OMIM:618578"} ! Mendelian disease [Term] id: MONDO:0032822 -name: developmental epileptic encephalopathy, 80 +name: developmental and epileptic encephalopathy, 80 synonym: "DEE80" EXACT [OMIM:618580] synonym: "epileptic encephalopathy, early infantile, 80" EXACT [OMIM:618580] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80; EIEE80" EXACT [OMIM:618580] synonym: "Glycosylphosphatidylinositol Biosynthesis Defect 20" RELATED [OMIM:618580] xref: OMIM:618580 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618580"} ! Mendelian disease -is_a: MONDO:0100062 {source="OMIM:618580"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:618580"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0032823 @@ -417924,13 +417924,13 @@ is_a: MONDO:0003847 {source="OMIM:618662"} ! Mendelian disease [Term] id: MONDO:0032858 -name: developmental epileptic encephalopathy, 81 +name: developmental and epileptic encephalopathy, 81 synonym: "DEE81" EXACT [OMIM:618663] synonym: "epileptic encephalopathy, early infantile, 81" EXACT [OMIM:618663] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81; EIEE81" EXACT [OMIM:618663] xref: OMIM:618663 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618663"} ! Mendelian disease -is_a: MONDO:0100062 {source="OMIM:618663"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:618663"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0032859 @@ -418095,7 +418095,7 @@ is_a: MONDO:0003847 {source="OMIM:618719"} ! Mendelian disease [Term] id: MONDO:0032880 -name: developmental epileptic encephalopathy, 82 +name: developmental and epileptic encephalopathy, 82 synonym: "DEE82" EXACT [OMIM:618721] synonym: "epileptic encephalopathy, early infantile, 82" EXACT [OMIM:618721] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82; EIEE82" EXACT [OMIM:618721] @@ -418103,7 +418103,7 @@ synonym: "Glutamate Oxaloacetate Transaminase, Mitochondrial, Deficiency of" REL synonym: "Got2 Deficiency" RELATED [OMIM:618721] xref: OMIM:618721 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618721"} ! Mendelian disease -is_a: MONDO:0100062 {source="OMIM:618721"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:618721"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0032881 @@ -418210,14 +418210,14 @@ is_a: MONDO:0003847 {source="OMIM:618741"} ! Mendelian disease [Term] id: MONDO:0032895 -name: developmental epileptic encephalopathy, 83 +name: developmental and epileptic encephalopathy, 83 synonym: "Barakat-Perenthaler Syndrome" RELATED [OMIM:618744] synonym: "DEE83" EXACT [OMIM:618744] synonym: "epileptic encephalopathy, early infantile, 83" EXACT [OMIM:618744] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83; EIEE83" EXACT [OMIM:618744] xref: OMIM:618744 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618744"} ! Mendelian disease -is_a: MONDO:0100062 {source="OMIM:618744"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:618744"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0032896 @@ -418402,14 +418402,14 @@ is_a: MONDO:0019587 {source="OMIM:618787"} ! autosomal dominant nonsyndromic dea [Term] id: MONDO:0032918 -name: developmental epileptic encephalopathy, 84 +name: developmental and epileptic encephalopathy, 84 synonym: "DEE84" EXACT [OMIM:618792] synonym: "epileptic encephalopathy, early infantile, 84" EXACT [OMIM:618792] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84; EIEE84" EXACT [OMIM:618792] synonym: "Jamuar Syndrome" RELATED [OMIM:618792] xref: OMIM:618792 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618792"} ! Mendelian disease -is_a: MONDO:0100062 {source="OMIM:618792"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:618792"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0032919 @@ -419181,7 +419181,7 @@ is_a: MONDO:0020127 {source="MONDO:cjm"} ! genetic peripheral neuropathy [Term] id: MONDO:0033361 -name: developmental epileptic encephalopathy, 52 +name: developmental and epileptic encephalopathy, 52 synonym: "DEE52" EXACT [OMIM:617350] synonym: "EIEE52" EXACT [OMIM:617350] synonym: "epileptic encephalopathy, early infantile, 52" EXACT [OMIM:617350] @@ -419189,11 +419189,11 @@ synonym: "epileptic encephalopathy, early infantile, 52; EIEE52" EXACT [OMIM:617 xref: OMIM:617350 {source="MONDO:equivalentTo"} xref: Orphanet:1934 {source="MONDO:subClassOf", source="OMIM:617350"} xref: UMLS:C4479236 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:617350"} -is_a: MONDO:0100062 {source="OMIM:617350"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:617350"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0033362 -name: developmental epileptic encephalopathy, 53 +name: developmental and epileptic encephalopathy, 53 synonym: "DEE53" EXACT [OMIM:617389] synonym: "EIEE53" EXACT [OMIM:617389] synonym: "epileptic encephalopathy, early infantile, 53" EXACT [OMIM:617389] @@ -419201,11 +419201,11 @@ synonym: "epileptic encephalopathy, early infantile, 53; EIEE53" EXACT [OMIM:617 xref: OMIM:617389 {source="MONDO:equivalentTo"} xref: Orphanet:1934 {source="MONDO:subClassOf", source="OMIM:617389"} xref: UMLS:C4479313 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:617389"} -is_a: MONDO:0100062 {source="OMIM:617389"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:617389"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0033363 -name: developmental epileptic encephalopathy, 54 +name: developmental and epileptic encephalopathy, 54 synonym: "DEE54" EXACT [OMIM:617391] synonym: "EIEE54" EXACT [OMIM:617391] synonym: "epileptic encephalopathy, early infantile, 54" EXACT [OMIM:617391] @@ -419213,11 +419213,11 @@ synonym: "epileptic encephalopathy, early infantile, 54; EIEE54" EXACT [OMIM:617 xref: OMIM:617391 {source="MONDO:equivalentTo"} xref: Orphanet:1934 {source="MONDO:subClassOf", source="OMIM:617391"} xref: UMLS:C4479319 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:617391"} -is_a: MONDO:0100062 {source="OMIM:617391"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:617391"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0033364 -name: developmental epileptic encephalopathy, 55 +name: developmental and epileptic encephalopathy, 55 synonym: "DEE55" EXACT [OMIM:617599] synonym: "EIEE55" EXACT [OMIM:617599] synonym: "epileptic encephalopathy, early infantile, 55" EXACT [OMIM:617599] @@ -419228,11 +419228,11 @@ xref: DOID:0080283 {source="MONDO:equivalentTo"} xref: OMIM:617599 {source="DOID:0080283", source="MONDO:equivalentTo"} xref: Orphanet:1934 {source="MONDO:subClassOf", source="OMIM:617599"} xref: UMLS:C4539843 {source="OMIM:617599", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0100062 {source="DOID:0080283", source="OMIM:617599"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0080283", source="OMIM:617599"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0033365 -name: developmental epileptic encephalopathy, 56 +name: developmental and epileptic encephalopathy, 56 synonym: "DEE56" EXACT [OMIM:617665] synonym: "EIEE56" EXACT [OMIM:617665] synonym: "epileptic encephalopathy, early infantile, 56" EXACT [OMIM:617665] @@ -419242,11 +419242,11 @@ xref: DOID:0080282 {source="MONDO:equivalentTo"} xref: OMIM:617665 {source="MONDO:equivalentTo", source="DOID:0080282"} xref: UMLS:C4540034 {source="OMIM:617665", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN477042 {source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="DOID:0080282", source="OMIM:617665"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0080282", source="OMIM:617665"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0033366 -name: developmental epileptic encephalopathy, 57 +name: developmental and epileptic encephalopathy, 57 synonym: "DEE57" EXACT [OMIM:617771] synonym: "EIEE57" EXACT [OMIM:617771] synonym: "epileptic encephalopathy, early infantile, 57" EXACT [OMIM:617771] @@ -419256,11 +419256,11 @@ xref: DOID:0080284 {source="MONDO:equivalentTo"} xref: OMIM:617771 {source="DOID:0080284", source="MONDO:equivalentTo"} xref: UMLS:C4540411 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617771"} xref: UMLS:CN633295 {source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="DOID:0080284", source="OMIM:617771"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0080284", source="OMIM:617771"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0033367 -name: developmental epileptic encephalopathy, 58 +name: developmental and epileptic encephalopathy, 58 synonym: "DEE58" EXACT [OMIM:617830] synonym: "EIEE58" EXACT [OMIM:617830] synonym: "epileptic encephalopathy, early infantile, 58" EXACT [OMIM:617830] @@ -419270,11 +419270,11 @@ xref: DOID:0080285 {source="MONDO:equivalentTo"} xref: OMIM:617830 {source="DOID:0080285", source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="OMIM:617830", source="MONDO:relatedTo"} xref: UMLS:CN757795 {source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="DOID:0080285", source="OMIM:617830"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0080285", source="OMIM:617830"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0033368 -name: developmental epileptic encephalopathy, 59 +name: developmental and epileptic encephalopathy, 59 synonym: "DEE59" EXACT [OMIM:617904] synonym: "EIEE59" EXACT [OMIM:617904] synonym: "epileptic encephalopathy, early infantile, 59" EXACT [OMIM:617904] @@ -419283,73 +419283,73 @@ synonym: "infantile epileptic encephalopathy 59" EXACT [DOID:0080291] xref: DOID:0080291 {source="MONDO:equivalentTo"} xref: OMIM:617904 {source="MONDO:equivalentTo", source="DOID:0080291"} xref: UMLS:CN870853 {source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="DOID:0080291", source="OMIM:617904"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0080291", source="OMIM:617904"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0033369 -name: developmental epileptic encephalopathy, 60 +name: developmental and epileptic encephalopathy, 60 synonym: "DEE60" EXACT [OMIM:617929] synonym: "EIEE60" EXACT [OMIM:617929] synonym: "epileptic encephalopathy, early infantile, 60" EXACT [OMIM:617929] synonym: "epileptic encephalopathy, early infantile, 60; EIEE60" EXACT [OMIM:617929] xref: OMIM:617929 {source="MONDO:equivalentTo"} xref: UMLS:CN244549 {source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="OMIM:617929"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:617929"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0033370 -name: developmental epileptic encephalopathy, 61 +name: developmental and epileptic encephalopathy, 61 synonym: "DEE61" EXACT [OMIM:617933] synonym: "EIEE61" EXACT [OMIM:617933] synonym: "epileptic encephalopathy, early infantile, 61" EXACT [OMIM:617933] synonym: "epileptic encephalopathy, early infantile, 61; EIEE61" EXACT [OMIM:617933] xref: OMIM:617933 {source="MONDO:equivalentTo"} xref: UMLS:CN244550 {source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="OMIM:617933"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:617933"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0033371 -name: developmental epileptic encephalopathy, 62 +name: developmental and epileptic encephalopathy, 62 synonym: "DEE62" EXACT [OMIM:617938] synonym: "EIEE62" EXACT [OMIM:617938] synonym: "epileptic encephalopathy, early infantile, 62" EXACT [OMIM:617938] synonym: "epileptic encephalopathy, early infantile, 62; EIEE62" EXACT [OMIM:617938] xref: OMIM:617938 {source="MONDO:equivalentTo"} xref: UMLS:CN244551 {source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="OMIM:617938"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:617938"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0033372 -name: developmental epileptic encephalopathy, 63 +name: developmental and epileptic encephalopathy, 63 synonym: "DEE63" EXACT [OMIM:617976] synonym: "EIEE63" EXACT [OMIM:617976] synonym: "epileptic encephalopathy, early infantile, 63" EXACT [OMIM:617976] synonym: "epileptic encephalopathy, early infantile, 63; EIEE63" EXACT [OMIM:617976] xref: OMIM:617976 {source="MONDO:equivalentTo"} xref: UMLS:CN244926 {source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="OMIM:617976"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:617976"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0033373 -name: developmental epileptic encephalopathy, 64 +name: developmental and epileptic encephalopathy, 64 synonym: "DEE64" EXACT [OMIM:618004] synonym: "EIEE64" EXACT [OMIM:618004] synonym: "epileptic encephalopathy, early infantile, 64" EXACT [OMIM:618004] synonym: "epileptic encephalopathy, early infantile, 64; EIEE64" EXACT [OMIM:618004] xref: OMIM:618004 {source="MONDO:equivalentTo"} xref: UMLS:CN248512 {source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="OMIM:618004"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:618004"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0033374 -name: developmental epileptic encephalopathy, 65 +name: developmental and epileptic encephalopathy, 65 synonym: "DEE65" EXACT [OMIM:618008] synonym: "EIEE65" EXACT [OMIM:618008] synonym: "epileptic encephalopathy, early infantile, 65" EXACT [OMIM:618008] synonym: "epileptic encephalopathy, early infantile, 65; EIEE65" EXACT [OMIM:618008] xref: OMIM:618008 {source="MONDO:equivalentTo"} xref: UMLS:CN248516 {source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="OMIM:618008"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:618008"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0033375 @@ -420112,7 +420112,7 @@ relationship: RO:0004001 http://identifiers.org/hgnc/8109 {source="Orphanet:5444 [Term] id: MONDO:0034106 -name: developmental epileptic encephalopathy, 73 +name: developmental and epileptic encephalopathy, 73 subset: ordo_disease synonym: "DEE73" EXACT [OMIM:618379] synonym: "epileptic encephalopathy, early infantile, 73" EXACT [OMIM:618379] @@ -420122,8 +420122,8 @@ xref: Orphanet:544503 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:544503"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015653 {source="Orphanet:544503"} ! monogenic epilepsy is_a: MONDO:0019589 {source="Orphanet:544503"} ! syndromic genetic deafness -is_a: MONDO:0100062 {source="MONDO:cjm"} ! developmental epileptic encephalopathy -intersection_of: MONDO:0100062 {source="MONDO:cjm"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="MONDO:cjm"} ! developmental and epileptic encephalopathy +intersection_of: MONDO:0100062 {source="MONDO:cjm"} ! developmental and epileptic encephalopathy intersection_of: RO:0004001 http://identifiers.org/hgnc/10057 {source="MONDO:cjm"} ! has material basis in gain of function germline mutation in RNF13 [Term] @@ -431990,14 +431990,14 @@ is_a: MONDO:0020135 {source="OMIM:618065"} ! pontocerebellar hypoplasia [Term] id: MONDO:0054845 -name: developmental epileptic encephalopathy, 66 +name: developmental and epileptic encephalopathy, 66 synonym: "DEE66" EXACT [OMIM:618067] synonym: "EIEE66" EXACT [OMIM:618067] synonym: "epileptic encephalopathy, early infantile, 66" EXACT [OMIM:618067] synonym: "epileptic encephalopathy, early infantile, 66; EIEE66" EXACT [OMIM:618067] xref: OMIM:618067 {source="MONDO:equivalentTo"} xref: UMLS:CN252658 {source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="OMIM:618067"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:618067"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0054846 @@ -433773,7 +433773,7 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-10-10T21:18:33Z xsd:da [Term] id: MONDO:0100062 -name: developmental epileptic encephalopathy +name: developmental and epileptic encephalopathy def: "A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity." [PMID:28276062] comment: Individuals, both male and female, have been reported with variants in the GABRB3 gene. De novo and familial cases have been reported, with mostly missense and a few nonsense variants identified as causative. These patients have been described in the literature as having a range of phenotypes characterized as epileptic encephalopathy, Lennox-Gastaut syndrome, Dravet syndrome-like, and childhood absence epilepsy. Severity of intellectual disability is variable among reported probands, as is the age of onset of seizure phenotypes. In one case of epileptic encephalopathy, for example, the individual presented with severe intellectual disability while seizures onset at 12 years old. Additionally, individuals have been reported with the same de novo missense variants, and have been described with varying phenotypes. {xref="PMID:26544041", xref="PMID:26704558", xref="PMID:26645412", xref="PMID:26993267", xref="PMID:27476654"} subset: clingen @@ -433972,14 +433972,14 @@ is_a: MONDO:0005044 ! hypertensive disorder [Term] id: MONDO:0100079 -name: developmental epileptic encephalopathy, 6 +name: developmental and epileptic encephalopathy, 6 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene." [OMIM:607208] comment: EEEI6 is the OMIM placeholder for SCN1A-related severe epilepsies. The vast majority of SCN1A-related severe epilepsies, including Dravet syndrome, are not early infantile by definition, thereby creating a oxymoronic conflict within the ontology. We recommend describing the phenotype, ie Dravet syndrome, or the genetic eitology, ie SCN1A to represent the concept in question. This is distinct from MONDO:0011794 Dravet syndrome. See https://github.com/monarch-initiative/mondo/issues/745 synonym: "DEE6" EXACT [OMIM:607208] synonym: "EIEE6" EXACT [OMIM:607208] synonym: "epileptic encephalopathy, early infantile, 6" EXACT [OMIM:607208] xref: OMIM:607208 {source="MONDO:equivalentTo"} -is_a: MONDO:0100062 ! developmental epileptic encephalopathy +is_a: MONDO:0100062 ! developmental and epileptic encephalopathy relationship: disease_shares_features_of MONDO:0100135 {source="https://github.com/monarch-initiative/mondo/issues/1637", source="https://orcid.org/0000-0001-7090-9648"} ! Dravet syndrome created_by: http://orcid.org/0000-0001-5208-3432 @@ -434269,7 +434269,7 @@ created_by: http://orcid.org/0000-0001-5208-3432 id: MONDO:0100107 name: non-neonatal early infantile epileptic encephalopathy def: "Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death." [https://clinicalgenome.org/affiliation/40005/] -is_a: MONDO:0100062 {source="https://clinicalgenome.org/affiliation/40005/"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="https://clinicalgenome.org/affiliation/40005/"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0100108 @@ -434517,11 +434517,11 @@ xref: ICD9:345.10 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C116573 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"} xref: SCTID:230437002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"} xref: UMLS:C0751122 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C116573", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="https://github.com/monarch-initiative/mondo/issues/745", source="https://orcid.org/0000-0002-6647-5493"} ! developmental epileptic encephalopathy +is_a: MONDO:0100062 {source="https://github.com/monarch-initiative/mondo/issues/745", source="https://orcid.org/0000-0002-6647-5493"} ! developmental and epileptic encephalopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10585 {source="https://github.com/monarch-initiative/mondo/issues/1637", source="https://orcid.org/0000-0001-7090-9648"} ! SCN1A relationship: disease_has_feature HP:0002373 {source="https://github.com/monarch-initiative/mondo/issues/1637", source="https://orcid.org/0000-0001-7090-9648"} ! Febrile seizure (within the age range of 3 months to 6 years) relationship: disease_has_feature MONDO:0015922 {source="https://github.com/monarch-initiative/mondo/issues/1637", source="https://github.com/monarch-initiative/mondo/issues/1835", source="https://orcid.org/0000-0001-7090-9648", source="https://orcid.org/0000-0001-8486-0558"} ! channelopathy with epilepsy -relationship: disease_shares_features_of MONDO:0100079 {source="https://github.com/monarch-initiative/mondo/issues/1637", source="https://orcid.org/0000-0001-7090-9648"} ! developmental epileptic encephalopathy, 6 +relationship: disease_shares_features_of MONDO:0100079 {source="https://github.com/monarch-initiative/mondo/issues/1637", source="https://orcid.org/0000-0001-7090-9648"} ! developmental and epileptic encephalopathy, 6 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome xsd:string {source="GARD:0010430"} created_by: http://orcid.org/0000-0001-5208-3432