Releases: monarch-initiative/mondo
Releases · monarch-initiative/mondo
v2021-08-11
New Classes
- MONDO:0100003 susceptibility to angioedema induced by ACE inhibitors
- MONDO:0100007 chronic inflammatory demyelinating polyneuropathy
- MONDO:0100017 pityriasis rubra pilaris
- MONDO:0100018 adult onset pityriasis rubra pilaris
- MONDO:0100037 juvenile onset pityriasis rubra pilaris
- MONDO:0100373 acute myeloid leukemia, inv(16)(p13.1;q22)
- MONDO:0100374 acute myeloid leukemia, t(16;16)(p13.1;q22)
- MONDO:0100375 acute myeloid leukemia, t(15;17)(q24;q21)
- MONDO:0100376 acute myeloid leukemia, t(9;11)(p21.3;q23.3)
- MONDO:0100377 acute myeloid leukemia, t(10;11)(p12;q23)
- MONDO:0100378 acute myeloid leukemia, t(10;11)(p11.2;q23)
- MONDO:0100379 acute myeloid leukemia, t(1;11)(q21;q23)
- MONDO:0100380 acute myeloid leukemia, t(4;11)(q21;q23)
- MONDO:0100381 acute myeloid leukemia, t(6;11)(q27;q23)
- MONDO:0100382 acute myeloid leukemia, t(6;9)(p23;q34.1)
- MONDO:0100383 acute myeloid leukemia, t(11;19)(q23;p13)
- MONDO:0100384 acute myeloid leukemia, t(11;19)(q23;p13.1)
- MONDO:0100385 acute myeloid leukemia, t(11;19)(q23.3;p13.3)
- MONDO:0100386 acute myeloid leukemia, t(v;11q23.3)
- MONDO:0100387 acute myeloid leukemia, Monosomy 7
- MONDO:0100388 acute myeloid leukemia, Monosomy 5
- MONDO:0100389 acute myeloid leukemia, Trisomy 8
- MONDO:0100390 acute myeloid leukemia, der12p
- MONDO:0100391 acute myeloid leukemia, t(2;12)
- MONDO:0100392 acute myeloid leukemia, t(11;17)
- MONDO:0100393 acute myeloid leukemia, t(8;16)
- MONDO:0100394 acute myeloid leukemia, t(1;22)
- MONDO:0100395 acute myeloid leukemia, t(5;11)(q35;p15)
- MONDO:0100396 acute myeloid leukemia, t(7;12)(q36;p13)
- MONDO:0100397 acute myeloid leukemia, t(9;22)(q34.1;q11.2)
- MONDO:0100398 acute myeloid leukemia, inv(3)(q21.3;q26.2)
- MONDO:0100399 acute myeloid leukemia, t(3;3)(q21.3;q26.2)
- MONDO:0100400 acute myeloid leukemia, t(3;12)(q23;p12.3)
- MONDO:0100401 acute myeloid leukemia, del(5q31-q32)
- MONDO:0100402 acute myeloid leukemia, del(13q14-q21)
- MONDO:0100403 acute myeloid leukemia, loss of chromosome 17p
- MONDO:0100404 acute myeloid leukemia, MLL gene rearrangement
- MONDO:0100405 acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive
- MONDO:0100406 acute myeloid leukemia, inv(16)(p13.3;q24.3)
- MONDO:0100407 acute myeloid leukemia, t(11;15)(p15;q35)
- MONDO:0100408 acute myeloid leukemia, t(16;21)(q24;q22)
- MONDO:0100409 acute myeloid leukemia, t(3;5)(q25;q34)
- MONDO:0100410 acute myeloid leukemia, t(16;21)(p11;q22)
- MONDO:0100411 acute myeloid leukemia, NPM1 gene mutation
- MONDO:0100412 acute myeloid leukemia, monoallelic CEBPA gene mutation
- MONDO:0100413 acute myeloid leukemia, biallelic CEBPA gene mutation
- MONDO:0100414 acute myeloid leukemia, CEBPA gene mutation
- MONDO:0100415 acute myeloid leukemia, FLT3 internal tandem duplication
- MONDO:0100416 acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation
- MONDO:0100417 acute myeloid leukemia, WT1 gene mutation
- MONDO:0100418 acute myeloid leukemia, KIT exon 17 mutation
- MONDO:0100419 acute myeloid leukemia, KIT exon 8 mutation
- MONDO:0100420 acute myeloid leukemia, KIT gene mutation
- MONDO:0100421 acute myeloid leukemia, GATA1 gene mutation
- MONDO:0100422 acute myeloid leukemia, RUNX1 gene mutation
- MONDO:0100423 acute myeloid leukemia, PTPN11 gene mutation
- MONDO:0100424 acute myeloid leukemia, NRAS gene mutation
- MONDO:0100425 acute myeloid leukemia, KRAS gene mutation
- MONDO:0700066 myopathy caused by mutation in FKRP
- MONDO:0700067 myopathy caused by mutation in FKTN
- MONDO:0700068 myopathy caused by mutation in POMGNT1
- MONDO:0700069 myopathy caused by mutation in POMGNT2
- MONDO:0700070 myopathy caused by mutation in POMT1
- MONDO:0700071 myopathy caused by mutation in POMT2 {xref="MONDO:patterns/disease_series_by_gene"}
- MONDO:0700075 congenital muscular dystrophy caused by mutation in POMGNT2
- MONDO:0700084 myopathy caused by mutation in GMPPB
Obsoletions
- MONDO:0005721 coxsackievirus infectious disease --> obsolete coxsackievirus infectious disease
- MONDO:0006448 testicular teratoma (disease) --> obsolete testicular teratoma (disease)
- MONDO:0015598 acrodermatitis continua suppurativa of Hallopeau --> obsolete acrodermatitis continua suppurativa of Hallopeau
- MONDO:0016597 generalized pustular psoriasis --> obsolete generalized pustular psoriasis
- MONDO:0018452 deficiency of the interleukin-36 receptor antagonist --> obsolete deficiency of the interleukin-36 receptor antagonist
- MONDO:0024293 polyposis, gastric, Dos Santos and de Magalhaes 1980 --> obsolete polyposis, gastric, Dos Santos and de Magalhaes 1980
- MONDO:0024351 familial pityriasis rubra pilaris --> obsolete familial pityriasis rubra pilaris
- MONDO:0029001 chemically-induced disorder --> obsolete chemically-induced disorder
- MONDO:0045028 radiation or chemically induced disorder --> obsolete radiation or chemically induced disorder
Renaming
- MONDO:0005721 coxsackievirus infectious disease --> obsolete coxsackievirus infectious disease
- MONDO:0006448 testicular teratoma (disease) --> obsolete testicular teratoma (disease)
- MONDO:0007691 chronic inflammatory demyelinating polyneuropathy --> Guillain-Barre syndrome, familial
- MONDO:0007953 binder syndrome --> Binder syndrome
- MONDO:0008251 pityriasis rubra pilaris --> familial pityriasis rubra pilaris
- MONDO:0010711 tarp syndrome --> TARP syndrome
- MONDO:0011922 adult idiopathic neutropenia --> nonimmune chronic idiopathic neutropenia of adults
- MONDO:0015598 acrodermatitis continua suppurativa of Hallopeau --> obsolete acrodermatitis continua suppurativa of Hallopeau
- MONDO:0016597 generalized pustular psoriasis --> obsolete generalized pustular psoriasis
- MONDO:0018452 deficiency of the...
v2021-08-03
New Classes
- MONDO:0600026 vanishing lung syndrome
- MONDO:0700064 aneuploidy
- MONDO:0700065 trisomy
Obsoletions
- MONDO:0004626 Hodgkin's paragranuloma --> obsolete Hodgkin's paragranuloma
- MONDO:0005889 orthomyxoviridae infectious disease --> obsolete orthomyxoviridae infectious disease
- MONDO:0008074 nerve growth factor, alpha subunit --> obsolete nerve growth factor, alpha subunit
- MONDO:0018297 hypotonia-speech impairment-severe cognitive delay syndrome --> obsolete hypotonia-speech impairment-severe cognitive delay syndrome
Renaming
- MONDO:0004626 Hodgkin's paragranuloma --> obsolete Hodgkin's paragranuloma
- MONDO:0005889 orthomyxoviridae infectious disease --> obsolete orthomyxoviridae infectious disease
- MONDO:0008074 nerve growth factor, alpha subunit --> obsolete nerve growth factor, alpha subunit
- MONDO:0014823 TBCK-related intellectual disability syndrome --> hypotonia, infantile, with psychomotor retardation and characteristic facies 3
- MONDO:0018297 hypotonia-speech impairment-severe cognitive delay syndrome --> obsolete hypotonia-speech impairment-severe cognitive delay syndrome
v2021-08-02
New Classes
- MONDO:0025986 megacystis-microcolon-intestinal hypoperistalsis syndrome
- MONDO:0100257 peroxisomal single enzyme/protein defect
- MONDO:0100258 phytanoyl-CoA hydroxylase deficiency
- MONDO:0100259 peroxisome biogenesis disorder due to PEX1 defect
- MONDO:0100260 peroxisome biogenesis disorder due to PEX2 defect
- MONDO:0100261 peroxisome biogenesis disorder due to PEX3 defect
- MONDO:0100262 peroxisome biogenesis disorder due to PEX5 defect
- MONDO:0100263 peroxisome biogenesis disorder due to PEX6 defect
- MONDO:0100264 peroxisome biogenesis disorder due to PEX10 defect
- MONDO:0100265 peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain
- MONDO:0100266 peroxisome biogenesis disorder due to PEX12 defect
- MONDO:0100267 peroxisome biogenesis disorder due to PEX13 defect
- MONDO:0100268 peroxisome biogenesis disorder due to PEX14 defect
- MONDO:0100269 peroxisome biogenesis disorder due to PEX16 defect
- MONDO:0100270 peroxisome biogenesis disorder due to PEX19 defect
- MONDO:0100271 peroxisome biogenesis disorder due to PEX26 defect
- MONDO:0100272 peroxisome biogenesis disorder due to PEX7 defect
- MONDO:0100273 glyceronephosphate O-acyltransferase deficiency
- MONDO:0100274 alkylglycerone-phosphate synthase deficiency
- MONDO:0100275 fatty acyl-CoA reductase defects
- MONDO:0100276 disorder of defective peroxisomal and mitochondrial fission
- MONDO:0100277 disorder of peroxisomal alpha oxidation
- MONDO:0100278 alanine glyoxylate aminotransferase deficiency
- MONDO:0100279 peroxisome biogenesis disorder due to PEX11B defect
- MONDO:0100304 disorder of bile acid aminotransferase
- MONDO:0100305 bile acid CoA:amino acid N-acyltransferase deficiency
- MONDO:0100306 disorder of defective peroxisome oxidative status
- MONDO:0100307 adult Refsum disease due to PEX7 defect
- MONDO:0100315 isolated adrenal insufficiency
- MONDO:0100322 non-Zellweger spectrum disorder
- MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1
- MONDO:0100355 classic or non-classic genetic disease presentation
- MONDO:0100356 classic presentation
- MONDO:0100357 non-classic presentation
- MONDO:0100358 ectodermal dysplasia WNT10A related
- MONDO:0100359 herpes simplex type 1 infectious disease
- MONDO:0100360 herpes simplex type 2 infectious disease
- MONDO:0100361 lip herpes simplex type 1 infectious disease
- MONDO:0100362 lip herpes simplex type 2 infectious disease
- MONDO:0100363 genital herpes simplex type 2 infectious disease
- MONDO:0100364 genital herpes simplex type 1 infectious disease
- MONDO:0100372 disorder of peroxisomal transporter
- MONDO:0500018 acute fibrinous and organizing pneumonia
- MONDO:0600014 alveolar capillary dysplasia without misalignment of pulmonary veins
- MONDO:0600023 idiopathic inflammatory myopathy
- MONDO:0600024 familial idiopathic inflammatory myopathy
- MONDO:0600025 hydrosalpinx
- MONDO:0700002 ATP1A3-associated neurological disorder
- MONDO:0700003 obstetric disorder
- MONDO:0700007 idiopathic disease
- MONDO:0700057 neurological pain disorder
- MONDO:0700060 leukemia, acute, X-linked
- MONDO:0700061 mosaic vs complete
- MONDO:0700062 mosaic
- MONDO:0700063 complete
Obsoletions
- MONDO:0000012 obsolete choreoathetosis (disease) --> obsolete choreoathetosis
- MONDO:0000054 obsolete macular dystrophy (disease) --> obsolete macular dystrophy
- MONDO:0000063 obsolete molybdenum cofactor deficiency (disease) --> obsolete molybdenum cofactor deficiency
- MONDO:0000077 obsolete nystagmus (disease) --> obsolete nystagmus
- MONDO:0000094 obsolete spherocytosis (disease) --> obsolete spherocytosis
- MONDO:0000106 obsolete apnea (disease) --> obsolete apnea
- MONDO:0000132 obsolete hypocalcemia (disease) --> obsolete hypocalcemia
- MONDO:0000161 obsolete adrenal hyperplasia (disease) --> obsolete adrenal hyperplasia
- MONDO:0000348 obsolete posterior polar cataract (disease) --> obsolete posterior polar cataract
- MONDO:0000537 obsolete gastrointestinal carcinoma (disease) --> obsolete gastrointestinal carcinoma
- MONDO:0000796 obsolete cow milk allergy (disease) --> obsolete cow milk allergy
- MONDO:0001445 obsolete neurogenic bladder (disease) --> obsolete neurogenic bladder
- MONDO:0001662 obsolete right bundle branch block (disease) --> obsolete right bundle branch block
- MONDO:0001872 obsolete vestibular nystagmus (disease) --> obsolete vestibular nystagmus
- MONDO:0001948 Riedel's fibrosing thyroiditis --> obsolete Riedel's fibrosing thyroiditis
- MONDO:0002080 obsolete congenital ichthyosiform erythroderma (disease) --> obsolete congenital ichthyosiform erythroderma
- MONDO:0002144 obsolete hyperuricemia (disease) --> obsolete hyperuricemia
- MONDO:0002498 obsolete glioblastoma multiforme (disease) --> obsolete glioblastoma multiforme
- MONDO:0002723 obsolete cutaneous mastocytosis (disease) --> obsolete cutaneous mastocytosis
- MONDO:0003833 obsolete severe combined immunodeficiency (disease) --> obsolete severe combined immunodeficiency
- MONDO:0004711 obsolete amyloidosis (disease) --> obsolete amyloidosis
- MONDO:0004761 obsolete urethral diverticulum (disease) --> obsolete urethral diverticulum
- MONDO:0005241 obsolete adrenocortical carcinoma (disease) --> obsolete adrenocortical carcinoma
- MONDO:0005245 obsolete testicular seminoma (disease) --> obsolete testicular seminoma
- MONDO:0005263 unipolar depression --> obsolete unipolar depression
- MONDO:0005360 obsolete Dupuytren contracture (disease) --> obsolete Dupuytren contracture
- MONDO:0006020 obsolete Zollinger-Ellison syndrome (disease) --> obsolete Zollinger-Ellison syndrome
- MONDO:0006100 obsolete Bartholin gland carcinoma (disease) --> obsolete Bartholin gland carcinoma
- MONDO:0006379 obsolete pleural mesothelioma (disease) --> obsolete ...
v2021-07-12
New Classes
- MONDO:0025690 microcephaly, epilepsy, and diabetes syndrome 2
- MONDO:0025691 dystonia 30
- MONDO:0025699 Coffin-Siris syndrome 12
- MONDO:0025701 leukodystrophy, hypomyelinating, 22
- MONDO:0025712 angioedema, hereditary, 4
- MONDO:0025713 angioedema, hereditary, 7
- MONDO:0100329 primary viral infectious disease
- MONDO:0100330 disease arising from reactivation of latent infection with virus
- MONDO:0100332 disease has primary infectious agent
- MONDO:0100333 disease caused by reactivation of latent infectious agent
- MONDO:0100334 obsolete viral infectious disease or sequela
- MONDO:0100336 infectious disease or post-infectious disorder
- MONDO:0100338 urinary tract infection (disease)
- MONDO:0100353 HHV-7 infectious disease
- MONDO:0100370 acute hepatitis B virus infection
- MONDO:0100371 acute hepatitis C virus infection
- MONDO:0700000 ALG9-associated autosomal dominant polycystic kidney disease
- MONDO:0700001 shrinking lung syndrome
- MONDO:0700004 idiopathic vs non-idiopathic
- MONDO:0700005 idiopathic
- MONDO:0700006 non-idiopathic
Obsoletions
- MONDO:0011645 aneurysmal bone cysts --> obsolete aneurysmal bone cysts
- MONDO:0014812 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration --> obsolete metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
- MONDO:0020810 congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome --> obsolete congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
- MONDO:0024297 nutritional or metabolic disease --> obsolete nutritional or metabolic disease
Renaming
- MONDO:0005135 parasitic infection --> parasitic infectious disease
- MONDO:0005247 urinary tract infection (disease) --> bacterial urinary tract infection (disease)
- MONDO:0008842 ataxia with oculomotor apraxia type 1 --> ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- MONDO:0009908 dehydratase deficiency --> pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- MONDO:0011645 aneurysmal bone cysts --> obsolete aneurysmal bone cysts
- MONDO:0014399 PCNA-related progressive neurodegenerative photosensitivy syndrome --> ataxia-telangiectasia-like disorder 2
- MONDO:0014531 amyotrohpic lateral sclerosis type 22 --> amyotrophic lateral sclerosis type 22
- MONDO:0014812 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration --> obsolete metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
- MONDO:0020810 congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome --> obsolete congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
- MONDO:0022636 candida glabrata --> candida glabrata infection
- MONDO:0024297 nutritional or metabolic disease --> obsolete nutritional or metabolic disease
- MONDO:0100318 COVID-19 or sequela --> SARS-CoV-2-related disease
v2021-06-01
New Classes
- MONDO:0021421 carcinoid tumors, intestina
- MONDO:0025351 multiple congenital anomalies-neurodevelopmental syndrome, x-linked
- MONDO:0025356 azoospermia, obstructive, with nephrolithiasis
- MONDO:0025622 Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1
- MONDO:0030835 developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
- MONDO:0030837 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
- MONDO:0030849 intellectual developmental disorder with speech delay and axonal peripheral neuropathy
- MONDO:0030852 neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
- MONDO:0030859 COACH syndrome 2
- MONDO:0030860 neuronopathy, distal hereditary motor, type 5C
- MONDO:0030862 COACH syndrome 3
- MONDO:0030866 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
- MONDO:0030871 vertebral hypersegmentation and orofacial anomalies
- MONDO:0030873 cardiofacioneurodevelopmental syndrome
- MONDO:0030878 Kaya-Barakat-Masson syndrome
- MONDO:0030880 mandibuloacral dysplasia progeroid syndrome
- MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia
- MONDO:0030893 leukoencephalopathy, progressive, infantile-onset, with or without deafness
- MONDO:0030896 chromosome 13q33-q34 deletion syndrome
- MONDO:0030897 Lessel-Kreienkamp syndrome
- MONDO:0030900 intellectual developmental disorder with paroxysmal dyskinesia or seizures
- MONDO:0030930 neurodevelopmental disorder with or without early-onset generalized epilepsy
- MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities
- MONDO:0030963 Li-Campeau syndrome
- MONDO:0030966 neurofacioskeletal syndrome with or without renal agenesis
- MONDO:0030967 deafness, congenital, and adult-onset progressive leukoencephalopathy
- MONDO:0030976 oculomotor-abducens synkinesis
- MONDO:0030977 neuropathy, hereditary motor, with myopathic features
- MONDO:0030978 endove syndrome, limb-only type
- MONDO:0030979 endove syndrome, limb-brain type
- MONDO:0030982 sulfide quinone oxidoreductase deficiency
- MONDO:0030986 blistering, acantholytic, of oral and laryngeal mucosa
- MONDO:0030987 vertebral, cardiac, tracheoesophageal, renal, and limb defects
- MONDO:0030988 developmental delay with dysmorphic facies and dental anomalies
- MONDO:0030990 Kohlschutter-Tonz syndrome-like
- MONDO:0030991 bile acid conjugation defect 1
- MONDO:0030992 short stature, oligodontia, dysmorphic facies, and motor delay
- MONDO:0030994 neurodevelopmental disorder with or without autism or seizures
- MONDO:0030995 global developmental delay with speech and behavioral abnormalities
- MONDO:0030999 neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
- MONDO:0031001 vitreoretinopathy with phalangeal epiphyseal dysplasia
- MONDO:0031002 Baralle-Macken syndrome
- MONDO:0031006 neurodegeneration with ataxia and late-onset optic atrophy
- MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
- MONDO:0031008 nephrotic syndrome, type 24
- MONDO:0031011 neurodevelopmental disorder with dysmorphic facies and variable seizures
- MONDO:0100283 overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
- MONDO:0100348 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- MONDO:0100349 COACH syndrome
- MONDO:0100350 neuronopathy, distal hereditary motor, type 5
- MONDO:0100352 episodic kinesigenic dyskinesia 1
- MONDO:0400006 botryomycosis
- MONDO:0500000 episodic angioedema with eosinophilia
- MONDO:0600001 glutaminase deficiency
- MONDO:0600002 hemorrhagic fever
- MONDO:0600003 bacterial hemorrhagic fever
- MONDO:0600005 venom allergy
- MONDO:0600008 cytokine release syndrome
- MONDO:0600009 severe hypophosphatasia
- MONDO:0600010 moderate hypophosphatasia
- MONDO:0600011 mild hypophosphatasia
Obsoletions
- MONDO:0007189 B-cell growth factor --> obsolete B-cell growth factor
- MONDO:0007494 episodic kinesigenic dyskinesia 1 --> obsolete episodic kinesigenic dyskinesia 1
- MONDO:0007798 adult hypophosphatasia --> obsolete adult hypophosphatasia
- MONDO:0009325 deafness-enamel hypoplasia-nail defects syndrome --> obsolete deafness-enamel hypoplasia-nail defects syndrome
- MONDO:0009427 infantile hypophosphatasia --> obsolete infantile hypophosphatasia
- MONDO:0009428 childhood hypophosphatasia --> obsolete childhood hypophosphatasia
- MONDO:0010990 Cd4/CD8 T-cell ratio --> obsolete Cd4/CD8 T-cell ratio
- MONDO:0014763 Bombay phenotype --> obsolete Bombay phenotype
- MONDO:0016343 unclassified cardiomyopathy --> obsolete unclassified cardiomyopathy
- MONDO:0016606 prenatal benign hypophosphatasia --> obsolete prenatal benign hypophosphatasia
- MONDO:0023052 ectrodactyly polydactyly --> obsolete ectrodactyly polydactyly
- MONDO:0030965 olmsted syndrome 2 --> obsolete olmsted syndrome 2
Renaming
- MONDO:0007189 B-cell growth factor --> obsolete B-cell growth factor
- MONDO:0007494 episodic kinesigenic dyskinesia 1 --> obsolete episodic kinesigenic dyskinesia 1
- MONDO:0007798 adult hypophosphatasia --> obsolete adult hypophosphatasia
- MONDO:0008996 Joubert syndrome with hepatic defect --> COACH syndrome 1
- MONDO:0009120 marfanoid syndrome, De Silva type --> diverticulosis of bowel, hernia, and retinal detachment
- MONDO:0009325 deafness-enamel hypoplasia-nail defects syndrome --> obsolete deafness-enamel hypoplasia-nail defects syndrome
- MONDO:0009427 infantile hypophosphatasia --> obsolete infantile hypophosphatasia
- MONDO:0009428 childhood hypophosphatasia --> obsolete childhood hypophosphatasia
- MONDO:0010990 Cd4/CD8 T-cell ratio --> obsol...
v2021-04-30
New Classes
- MONDO:0030962 nephrotic syndrome, type 23
- MONDO:0030965 olmsted syndrome 2
- MONDO:0030971 immunodeficiency 78 with autoimmunity and developmental delay
- MONDO:0030973 immunodeficiency 77
- MONDO:0030974 mitochondrial complex 2 deficiency, nuclear type 4
- MONDO:0030981 immunodeficiency 79
- MONDO:0030985 premature ovarian failure 19
- MONDO:0030989 spermatogenic failure 53
- MONDO:0030996 bleeding disorder, platelet-type, 24
- MONDO:0030997 mitochondrial complex 1 deficiency, nuclear type 37
- MONDO:0030998 deafness, autosomal dominant 80
- MONDO:0031003 hypercholanemia, familial, 2
- MONDO:0031009 Glanzmann thrombasthenia 2
- MONDO:0031010 odontochondrodysplasia 2 with hearing loss and diabetes
- MONDO:0031037 famililal cerebral cavernous malformations
- MONDO:0031169 odontochondrodysplasia
- MONDO:0031332 Glanzmann thrombasthenia 1
- MONDO:0031446 hypercholanemia, familial 1
- MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1
- MONDO:0100308 atactic disorder
- MONDO:0100309 hereditary ataxia
- MONDO:0100310 hereditary cerebellar ataxia
- MONDO:0100311 sensory ataxia
- MONDO:0100312 vestibular ataxia
- MONDO:0100318 COVID-19 or sequela
- MONDO:0100319 COVID-19–associated multisystem inflammatory syndrome in adults
- MONDO:0100320 sequela of COVID-19
- MONDO:0100321 viral disease or post-viral disorder
- MONDO:0100325 odontochondrodysplasia 1
- MONDO:0100326 Glanzmann thrombasthenia
- MONDO:0100327 hypercholanemia, familial
- MONDO:0100328 microcephaly, epilepsy, and diabetes syndrome
- MONDO:0100337 SEC61A1 deficiency
- MONDO:0100339 Friedreich ataxia
- MONDO:0100340 Friedreich ataxia 1
- MONDO:0100342 malignant glioma
- MONDO:0100343 antenatal Bartter syndrome
- MONDO:0100344 Bartter disease type 1
- MONDO:0100345 lactose intolerance (disease)
- MONDO:0100347 carcinoid syndrome
Obsoletions
- MONDO:0000557 hereditary ataxia --> obsolete hereditary ataxia
- MONDO:0006689 carcinoid syndrome --> obsolete carcinoid syndrome
- MONDO:0007291 familial cerebral cavernous malformation --> obsolete familial cerebral cavernous malformation
- MONDO:0008480 odontochondrodysplasia --> obsolete odontochondrodysplasia
- MONDO:0009116 lactose intolerance (disease) --> obsolete lactose intolerance (disease)
- MONDO:0009245 Friedreich ataxia --> obsolete Friedreich ataxia
- MONDO:0010119 Glanzmann's thrombasthenia --> obsolete Glanzmann's thrombasthenia
- MONDO:0011127 Bartter disease type 1 --> obsolete Bartter disease type 1
- MONDO:0011905 familial hypercholanemia --> obsolete familial hypercholanemia
- MONDO:0013647 primary microcephaly-epilepsy-permanent neonatal diabetes syndrome --> obsolete primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
- MONDO:0015917 malignant glioma --> obsolete malignant glioma
- MONDO:0100139 asymptomatic COVID-19 infection --> obsolete asymptomatic COVID-19 infection
- MONDO:0100140 mild COVID-19 infection --> obsolete mild COVID-19 infection
- MONDO:0100141 moderate COVID-19 infection --> obsolete moderate COVID-19 infection
- MONDO:0100142 severe COVID-19 infection --> obsolete severe COVID-19 infection
- MONDO:0100143 critical COVID-19 infection --> obsolete critical COVID-19 infection
- MONDO:0100145 presymptomatic COVID-19 infection --> obsolete presymptomatic COVID-19 infection
Renaming
- MONDO:0000557 hereditary ataxia --> obsolete hereditary ataxia
- MONDO:0005227 abscess --> abscess (disease)
- MONDO:0006689 carcinoid syndrome --> obsolete carcinoid syndrome
- MONDO:0007291 familial cerebral cavernous malformation --> obsolete familial cerebral cavernous malformation
- MONDO:0008480 odontochondrodysplasia --> obsolete odontochondrodysplasia
- MONDO:0009116 lactose intolerance (disease) --> obsolete lactose intolerance (disease)
- MONDO:0009245 Friedreich ataxia --> obsolete Friedreich ataxia
- MONDO:0010119 Glanzmann's thrombasthenia --> obsolete Glanzmann's thrombasthenia
- MONDO:0011127 Bartter disease type 1 --> obsolete Bartter disease type 1
- MONDO:0011905 familial hypercholanemia --> obsolete familial hypercholanemia
- MONDO:0013647 primary microcephaly-epilepsy-permanent neonatal diabetes syndrome --> obsolete primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
- MONDO:0014195 microcornea-myopic chorioretinal atrophy-telecanthus syndrome --> microcornea-myopic chorioretinal atrophy
- MONDO:0015917 malignant glioma --> obsolete malignant glioma
- MONDO:0020724 familial cerebral cavernous malformation 1 --> cerebral cavernous malformation 1
- MONDO:0026767 immunodeficiency 74, covid19-related, X-linked --> immunodeficiency 74, COVID-19-related, X-linked
- MONDO:0100139 asymptomatic COVID-19 infection --> obsolete asymptomatic COVID-19 infection
- MONDO:0100140 mild COVID-19 infection --> obsolete mild COVID-19 infection
- MONDO:0100141 moderate COVID-19 infection --> obsolete moderate COVID-19 infection
- MONDO:0100142 severe COVID-19 infection --> obsolete severe COVID-19 infection
- MONDO:0100143 critical COVID-19 infection --> obsolete critical COVID-19 infection
- MONDO:0100145 presymptomatic COVID-19 infection --> obsolete presymptomatic COVID-19 infection
v2021-04-07
New Classes
- MONDO:0025353 developmental and epileptic encephalopathy, 90
- MONDO:0025354 spermatogenic failure, X-linked, 3
- MONDO:0030894 AMED syndrome, digenic
- MONDO:0030895 nephrotic syndrome, type 22
- MONDO:0030898 immunodeficiency 76
- MONDO:0030899 oculocutaneous albinism, type 8
- MONDO:0030902 mitochondrial complex 1 deficiency, nuclear type 36
- MONDO:0030903 Hermansky-Pudlak syndrome 11
- MONDO:0030905 deafness, autosomal recessive 117
- MONDO:0030924 proteasome-associated autoinflammatory syndrome 5
- MONDO:0030925 oocyte maturation defect 10
- MONDO:0030926 spermatogenic failure 51
- MONDO:0030927 myofibrillar myopathy 11
- MONDO:0030928 microcephaly 26, primary, autosomal dominant
- MONDO:0030929 microcephaly 27, primary, autosomal dominant
- MONDO:0030931 proteasome-associated autoinflammatory syndrome 4
- MONDO:0030933 Joubert syndrome 37
- MONDO:0030934 intellectual developmental disorder, autosomal dominant 64
- MONDO:0030935 mitochondrial complex 2 deficiency, nuclear type 2
- MONDO:0030936 epilepsy, progressive myoclonic, 12
- MONDO:0030937 mitochondrial complex 2 deficiency, nuclear type 3
- MONDO:0030938 spermatogenic failure 52
- MONDO:0030939 premature ovarian failure 18
- MONDO:0030941 erythrokeratodermia variabilis et progressiva 7
- MONDO:0030953 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
- MONDO:0030961 Olmsted syndrome 2
- MONDO:0031230 mitochondrial complex II deficiency, nuclear type
- MONDO:0031421 Olmsted syndrome
- MONDO:0031439 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
- MONDO:0100290 colon serrated polyposis
- MONDO:0100291 early T cell progenitor acute lymphoblastic leukemia
- MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1
- MONDO:0100296 Olmsted syndrome 1
- MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
- MONDO:0100316 long QT syndrome 1
+id: disease_has_infectious_agent ! disease has infectious agent
Obsoletions
- MONDO:0000606 gluten allergy --> obsolete gluten allergy
- MONDO:0000772 pollen allergy --> obsolete pollen allergy
- MONDO:0000773 Timothy grass allergy --> obsolete Timothy grass allergy
- MONDO:0000776 metal allergy --> obsolete metal allergy
- MONDO:0000779 apple allergy --> obsolete apple allergy
- MONDO:0000780 apricot allergy --> obsolete apricot allergy
- MONDO:0000785 peach allergy --> obsolete peach allergy
- MONDO:0000786 plum allergy --> obsolete plum allergy
- MONDO:0000787 tomato allergy --> obsolete tomato allergy
- MONDO:0000788 fish allergy --> obsolete fish allergy
- MONDO:0000789 Atlantic cod allergy --> obsolete Atlantic cod allergy
- MONDO:0000790 Atlantic salmon allergy --> obsolete Atlantic salmon allergy
- MONDO:0000791 carp allergy --> obsolete carp allergy
- MONDO:0000793 rainbow trout allergy --> obsolete rainbow trout allergy
- MONDO:0000794 beta-lactam allergy --> obsolete beta-lactam allergy
- MONDO:0000795 penicillin allergy --> obsolete penicillin allergy
- MONDO:0000796 cow milk allergy (disease) --> obsolete cow milk allergy (disease)
- MONDO:0000797 goat milk allergy --> obsolete goat milk allergy
- MONDO:0000798 mollusc allergy --> obsolete mollusc allergy
- MONDO:0000799 crustacean allergy --> obsolete crustacean allergy
- MONDO:0000800 brown shrimp allergy --> obsolete brown shrimp allergy
- MONDO:0000801 green mud crab allergy --> obsolete green mud crab allergy
- MONDO:0000802 Indian prawn allergy --> obsolete Indian prawn allergy
- MONDO:0000803 tiger prawn allergy --> obsolete tiger prawn allergy
- MONDO:0000804 white shrimp allergy --> obsolete white shrimp allergy
- MONDO:0000805 snail allergy --> obsolete snail allergy
- MONDO:0000806 horned turban snail allergy --> obsolete horned turban snail allergy
- MONDO:0000865 congenital fiber-type disproportion --> obsolete congenital fiber-type disproportion
- MONDO:0000991 left bundle branch block --> obsolete left bundle branch block
- MONDO:0001662 right bundle branch block (disease) --> obsolete right bundle branch block (disease)
- MONDO:0002497 food allergy --> obsolete food allergy
- MONDO:0005741 egg allergy --> obsolete egg allergy
- MONDO:0006772 glycogen storage disease VIII --> obsolete glycogen storage disease VIII
- MONDO:0006872 nut allergic reaction --> obsolete nut allergic reaction
- MONDO:0007021 wheat allergic disease --> obsolete wheat allergic disease
- MONDO:0007954 May-Hegglin anomaly --> obsolete May-Hegglin anomaly
- MONDO:0008032 autosomal dominant limb-girdle muscular dystrophy type 1A --> obsolete autosomal dominant limb-girdle muscular dystrophy type 1A
- MONDO:0008646 long QT syndrome 1 --> obsolete long QT syndrome 1
- MONDO:0009317 nonphotosensitive trichothiodystrophy --> obsolete nonphotosensitive trichothiodystrophy
- MONDO:0009641 mitochondrial complex II deficiency --> obsolete mitochondrial complex II deficiency
- MONDO:0009739 infantile neuroaxonal dystrophy --> obsolete infantile neuroaxonal dystrophy
- MONDO:0010086 sudden infant death syndrome --> obsolete sudden infant death syndrome
- MONDO:0012632 Alzheimer disease 15 --> obsolete Alzheimer disease 15
- MONDO:0015147 other syndrome with lissencephaly as a major feature --> obsolete other syndrome with lissencephaly as a major feature
- MONDO:0015226 syndrome with limb malformations as a major feature --> obsolete syndrome with limb malformations as a major feature
- MONDO:0015319 rare disease with Pierre Robin syndrome --> obsolete rare disease with Pierre Robin syndrome
- MONDO:0015332 rare developmental defect with connective tissue involvement --> obsolete rare developmental defect with connective tissue involvement
- MONDO:0015475 rare head and neck malformation --> obsolete rare head and neck malformation...
v2021-03-03
New Classes
- MONDO:0030923 frontotemporal dementia and/or amyotrophic lateral sclerosis
- MONDO:0035112 acute myeloid leukemia with BCR-ABL1
- MONDO:0100237 inherited cutis laxa
- MONDO:0100238 inherited Fanconi renotubular syndrome
- MONDO:0100239 inherited hypertrophic pyloric stenosis
- MONDO:0100240 inherited thrombophilia
- MONDO:0100241 inherited thrombocytopenia
- MONDO:0100242 glioma susceptibility
- MONDO:0100243 inherited paroxysmal nocturnal hemoglobinuria
- MONDO:0100244 paroxysmal nocturnal hemoglobinuria
- MONDO:0100245 acquired paroxysmal nocturnal hemoglobinuria
- MONDO:0100246 migraine with or without aura, susceptibility to
- MONDO:0100247 multiple congenital anomalies-hypotonia-seizures syndrome
- MONDO:0100248 rapidly progressive primary central nervous system vasculitis
- MONDO:0100249 46,XX testicular disorder of sex development
- MONDO:0100250 46,XX sex reversal 1
- MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
- MONDO:0100252 tumoral calcinosis, hyperphosphatemic, familial, 1
- MONDO:0100253 Roberts-SC phocomelia syndrome
- MONDO:0100255 adenosine kinase deficiency
- MONDO:0100280 Waldenstrom macroglobulinemia
- MONDO:0100281 macroglobulinemia, Waldenstrom, 1
- MONDO:0100282 SC phocomelia syndrome
- MONDO:0100284 X-linked intellectual disability
- MONDO:0100285 extrahepatic biliary atresia
- MONDO:0100286 respiratory syncytial virus bronchiolitis
- MONDO:0100288 enhanced S-cone syndrome
- MONDO:0100289 Goldmann-Favre syndrome
Obsoletions
- MONDO:0000834 bone deterioration disease --> obsolete bone deterioration disease
- MONDO:0007926 Waldenstrom macroglobulinemia --> obsolete Waldenstrom macroglobulinemia
- MONDO:0008112 Goldenhar syndrome --> obsolete Goldenhar syndrome
- MONDO:0008220 pepsinogen 3, group 1 --> obsolete pepsinogen 3, group 1
- MONDO:0008897 hyperphosphatemic familial tumoral calcinosis --> obsolete tumoral calcinosis, hyperphosphatemic, familial, 1
- MONDO:0009989 enhanced S-cone syndrome --> obsolete enhanced S-cone syndrome
- MONDO:0010009 SC phocomelia syndrome --> obsolete SC phocomelia syndrome
- MONDO:0010303 colobomatous microphthalmia --> obsolete colobomatous microphthalmia
- MONDO:0010372 Clark-Baraitser syndrome --> obsolete Clark-Baraitser syndrome
- MONDO:0010766 46,XX testicular disorder of sex development --> obsolete 46,XX sex reversal 1
- MONDO:0011204 cerebellar degeneration-related autoantigen 3 --> obsolete cerebellar degeneration-related autoantigen 3
- MONDO:0011623 spinocerebellar ataxia, autosomal recessive 1 --> obsolete spinocerebellar ataxia, autosomal recessive 1
- MONDO:0013676 hypermethioninemia due to adenosine kinase deficiency --> obsolete hypermethioninemia due to adenosine kinase deficiency
- MONDO:0013861 amyotrophic lateral sclerosis type 17 --> obsolete amyotrophic lateral sclerosis type 17
- MONDO:0014655 Bethlem myopathy 2 --> obsolete Bethlem myopathy 2
- MONDO:0016640 fibrous dysplasia of bone --> obsolete fibrous dysplasia of bone
- MONDO:0017911 cleft lip/palate-ectodermal dysplasia syndrome --> obsolete cleft lip/palate-ectodermal dysplasia syndrome
- MONDO:0018641 paroxysmal nocturnal hemoglobinuria --> obsolete paroxysmal nocturnal hemoglobinuria
- MONDO:0023191 Freire-Maia odontotrichomelic syndrome --> obsolete Freire-Maia odontotrichomelic syndrome
- MONDO:0033939 hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome --> obsolete hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
- MONDO:0043181 refsum disease with increased pipecolic acidemia --> obsolete Refsum disease with increased pipecolic acidemia
Renaming
- MONDO:0000834 bone deterioration disease --> obsolete bone deterioration disease
- MONDO:0003321 hereditary Wilms' tumor --> hereditary Wilms tumor
- MONDO:0005578 arthritis --> arthritic joint disease
- MONDO:0006664 atrial heart septal defect --> atrial septal defect
- MONDO:0007105 frontotemporal dementia with motor neuron disease 1 --> frontotemporal dementia and/or amyotrophic lateral sclerosis 1
- MONDO:0007172 atrial heart septal defect 1 --> atrial septal defect 1
- MONDO:0007173 atrial heart septal defect 7 --> atrial septal defect 7
- MONDO:0007319 familial calcium pyrophosphate deposition --> chondrocalcinosis 2
- MONDO:0007399 craniosynostosis 1 --> TWIST1-related craniosynostosis
- MONDO:0007681 familial multinodular goiter --> goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
- MONDO:0007768 hyperparathyroidism-jaw tumor syndrome --> hyperparathyroidism 2 with jaw tumors
- MONDO:0007926 Waldenstrom macroglobulinemia --> obsolete Waldenstrom macroglobulinemia
- MONDO:0008050 Laing early-onset distal myopathy --> MYH7-related skeletal myopathy
- MONDO:0008112 Goldenhar syndrome --> obsolete Goldenhar syndrome
- MONDO:0008220 pepsinogen 3, group 1 --> obsolete pepsinogen 3, group 1
- MONDO:0008226 aggressive periodontitis --> periodontitis, aggressive 1
- MONDO:0008355 IHPS1 --> pyloric stenosis, infantile hypertrophic, 1
- MONDO:0008473 spondyloepiphyseal dysplasia, Maroteaux type --> spondyloepimetaphyseal dysplasia, Maroteaux type
- MONDO:0008494 hereditary cryohydrocytosis with normal stomatin --> cryohydrocytosis
- MONDO:0008679 Wilms tumor type 1 --> Wilms tumor 1
- MONDO:0008710 Carpenter syndrome 1 --> RAB23-related Carpenter syndrome
- MONDO:0008897 hyperphosphatemic familial tumoral calcinosis --> obsolete tumoral calcinosis, hyperphosphatemic, familial, 1
- MONDO:0009151 Zlotogora-Ogur syndrome --> cleft lip/palate-ectodermal dysplasia syndrome
- MONDO:0009989 enhanced S-cone syndrome --> obsolete enhanced S-cone syndrome
- MONDO:0010009 SC phocomelia syndrome --> obsolete SC phocomelia syndrome
- MONDO:0010290 MNG2 --> goiter, multinodular 2
- MONDO:0010296 AGMX2 --> immunodeficiency 61
- MONDO:0010303 colobomatous microphthalmia --> obsolete colobomatous microphthalmia
- MONDO:0010372 Clark-Baraitser syndrome --> obsolete Clark-Baraitser syndrome
- [MONDO:0010411](http://purl.obolibra...
v2021-01-29
New Classes
- MONDO:0030801 monosomy 7 myelodysplasia and leukemia syndrome 2
- MONDO:0030840 mismatch repair cancer syndrome 2
- MONDO:0030841 mismatch repair cancer syndrome 3
- MONDO:0030843 mismatch repair cancer syndrome 4
- MONDO:0030844 spermatogenic failure 47
- MONDO:0030846 spermatogenic failure 48
- MONDO:0030847 arthrogryposis, distal, type 1C
- MONDO:0030854 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
- MONDO:0030855 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
- MONDO:0030856 developmental and epileptic encephalopathy 89
- MONDO:0030858 immunodeficiency 75
- MONDO:0030861 osteogenesis imperfecta, type 21
- MONDO:0030864 Ritscher-Schinzel syndrome 3
- MONDO:0030867 thrombocytopenia 7
- MONDO:0030868 spermatogenic failure 49
- MONDO:0030869 spermatogenic failures 50
- MONDO:0030870 premature ovarian failure 17
- MONDO:0030872 frontotemporal dementia and/or amyotrophic lateral sclerosis 8
- MONDO:0030875 frontotemporal dementia and/or amyotrophic lateral sclerosis 5
- MONDO:0030876 cardioacrofacial dysplasia 1
- MONDO:0030877 cardioacrofacial dysplasia 2
- MONDO:0030883 carpal tunnel syndrome 2
- MONDO:0031178 monosomy 7 myelodysplasia and leukemia syndrome
- MONDO:0031219 mismatch repair cancer syndrome
- MONDO:0031386 cardioacrofacial dysplasia
- MONDO:0035117 PUM1-associated developmental disability-ataxia-seizure syndrome
- MONDO:0035121 myeloid/lymphoid neoplasm associated with JAK2 rearrangement
- MONDO:0035122 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- MONDO:0035124 linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
- MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
- MONDO:0035136 isolated melanotic schwannoma
- MONDO:0100230 fatty acyl-CoA reductase 1 dysregulation
- MONDO:0100231 psoriatic arthritis, susceptibility to, 1
- MONDO:0100232 'psoriatic arthritis, susceptibility to
- MONDO:0100233 long COVID-19
- MONDO:0100234 paroxysmal familial ventricular fibrillation
Obsoletions
- MONDO:0015502 pinnae and external auditory canal anomaly --> obsolete pinnae and external auditory canal anomaly
- MONDO:0015891 hypogonadotropic hypogonadism associated with other endocrinopathies --> obsolete hypogonadotropic hypogonadism associated with other endocrinopathies
- MONDO:0016131 spinal muscular atrophy associated with central nervous system anomaly --> obsolete spinal muscular atrophy associated with central nervous system anomaly
- MONDO:0016138 malignant lymphoma with peripheral neuropathy --> obsolete malignant lymphoma with peripheral neuropathy
- MONDO:0016404 metabolic neurotransmission anomaly with epilepsy --> obsolete metabolic neurotransmission anomaly with epilepsy
- MONDO:0016804 exercise intolerance with lactic acidosis --> obsolete exercise intolerance with lactic acidosis
- MONDO:0017000 X chromosome number anomaly with female phenotype --> obsolete X chromosome number anomaly with female phenotype
- MONDO:0017001 X chromosome number anomaly with male phenotype --> obsolete X chromosome number anomaly with male phenotype
- MONDO:0017083 lipoma associated with neurospinal dysraphism --> obsolete lipoma associated with neurospinal dysraphism
- MONDO:0017085 malformation of the neurenteric canal, spinal cord and column --> obsolete malformation of the neurenteric canal, spinal cord and column
- MONDO:0017433 dysostosis with combined reduction defects of upper and lower limbs --> obsolete dysostosis with combined reduction defects of upper and lower limbs
- MONDO:0017653 epilepsy and/or ataxia with myoclonus as major feature --> obsolete epilepsy and/or ataxia with myoclonus as major feature
- MONDO:0017654 non progressive epilepsy and/or ataxia with myoclonus as a major feature --> obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature
- MONDO:0017655 progressive epilepsy and/or ataxia with myoclonus as a major feature --> obsolete progressive epilepsy and/or ataxia with myoclonus as a major feature
- MONDO:0018032 constitutional neutropenia with extra-hematopoietic manifestations --> obsolete constitutional neutropenia with extra-hematopoietic manifestations
- MONDO:0018038 immunodeficiency with isotype or light chain deficiencies with normal number of B-cells --> obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
- MONDO:0018200 acute encephalopathy with inflammation-mediated status epilepticus --> obsolete acute encephalopathy with inflammation-mediated status epilepticus
- MONDO:0018299 sphingolipidosis with epilepsy --> obsolete sphingolipidosis with epilepsy
- MONDO:0018545 primary immunodeficiency with predisposition to severe viral infection --> obsolete primary immunodeficiency with predisposition to severe viral infection
- MONDO:0018699 pseudohypoparathyroidism with Albright hereditary osteodystrophy --> obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy
- MONDO:0018700 pseudohypoparathyroidism without Albright hereditary osteodystrophy --> obsolete pseudohypoparathyroidism without Albright hereditary osteodystrophy
- MONDO:0018722 primary lymphedema with associated anomalies --> obsolete primary lymphedema with associated anomalies
- MONDO:0019709 cleidocranial dysplasia and isolated cranial ossification defect --> obsolete cleidocranial dysplasia and isolated cranial ossification defect
- MONDO:0019710 dysostosis with predominant craniofacial involvement --> obsolete dysostosis with predominant craniofacial involvement
- MONDO:0019711 dysostosis with predominant vertebral and costal involvement --> obsolete dysostosis with predominant vertebral and costal involvement
- MONDO:0019987 congenital and infantile nephrotic syndrome --> obsolete congenital and infantile nephrotic syndrome
- MONDO:0020139 early-onset ataxia with dementia --> obsolete early-onset ataxia with dementia
- MONDO:0020140 late-onset ataxia with dementia --> obsolete late-onset ataxia with dementia
- MONDO:0020221 secondary glaucoma due to a proliferation and differentiation anomaly --> obsolete secondary glaucoma due to a proliferation and differentiation anomaly
- MONDO:0020234 craniofacial anomaly with cataract --> obsolete craniofacial anomaly with cataract
- MONDO:0020243 colobomatous and areolar dystrophy --> obsolete colobomatous and areolar dystrophy
- MONDO:0020254 craniostenosis associated with a strabismus --> obsolete craniostenosis associated with a strabismus
- [MONDO:0...
v2021-01-15
New Classes
- MONDO:0020799 basal cell neoplasm
- MONDO:0020802 obsolete basal cell cancer
- MONDO:0020804 basal cell carcinoma
- MONDO:0020805 benign basal cell neoplasm
- MONDO:0020807 ovarian sertoli-stromal cell tumor
- MONDO:0020808 testicular sertoli cell tumor
- MONDO:0020809 benign sertoli cell tumor
- MONDO:0020813 benign testicular sertoli cell tumor
- MONDO:0020814 miliaria alba
- MONDO:0020816 miliaria papulosa
- MONDO:0020817 miliaria vesiculosa
- MONDO:0020820 distal arthrogryposis type 2B1
- MONDO:0020823 infantile miliaria
- MONDO:0024227 miliaria pustulosa
- MONDO:0024228 miliaria profunda
- MONDO:0024229 miliaria crystallina
- MONDO:0024988 sex cord-stromal benign neoplasm
- MONDO:0100229 Heimler syndrome
Obsoletions
- MONDO:0018194 sex cord-stromal tumor of testis --> obsolete sex cord-stromal tumor of testis
Renaming
- MONDO:0010713 properdin deficiency --> properdin deficiency, X-linked
- MONDO:0012707 FEB9 --> familial febrile seizures 9
- MONDO:0014775 neonatal severe cardiopulmonary failure due to mitochondrial methylation defect --> combined oxidative phosphorylation deficiency 28
- MONDO:0018194 sex cord-stromal tumor of testis --> obsolete sex cord-stromal tumor of testis
- MONDO:0027069 mitochondrial complex 5 (atp synthase) deficiency, mitochondrial type 1 --> mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1
- MONDO:0032750 arthrogryposis, distal, type 2b2 --> arthrogryposis, distal, type 2B2
- MONDO:0032751 arthrogryposis, distal, type 2b3 --> arthrogryposis, distal, type 2B3
- MONDO:0032869 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 6 --> mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6
- MONDO:0033135 PMP2-related Charcot-Marie-Tooth disease type 1 --> Charcot-Marie-Tooth disease, demyelinating, type 1G