Autosomal hereditary disorder

Code	`1899006`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

6988700082-hydroxyglutaric aciduria disorder

78309200546,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency disorder

733638006Acral dystrophic epidermolysis bullosa disorder

702349003Actin accumulation myopathy disorder

34748004Adams-Oliver syndrome disorder

20756002Adult hypophosphatasia disorder

230312006Aicardi Goutieres syndrome disorder

1201863001Amyotrophic lateral sclerosis type 1 disorder

723554006Aplasia cutis congenita with epibulbar dermoid syndrome disorder

253528005Arrhythmogenic right ventricular dysplasia disorder

702444009Autoimmune lymphoproliferative syndrome disorder

1371097003Autoinflammation with arthritis and dyskeratosis due to NLRP1 deficiency disorder

11164009Autosomal dominant hereditary disorder disorder

1296897006Autosomal hereditary vasopressin resistance disorder

85995004Autosomal recessive hereditary disorder disorder

1197747005Autosomal semi-dominant severe lipodystrophic laminopathy disorder

763377006Autosomal spastic paraplegia type 30 disorder

782727008Autosomal spastic paraplegia type 72 disorder

773333003Autosomal systemic lupus erythematosus disorder

31155007Benign recurrent intrahepatic cholestasis disorder

787413007Bifid nose disorder

67817003Björnstad syndrome disorder

782934004Bleeding diathesis due to collagen receptor defect disorder

880067009Blount disease disorder

254088006Brachyolmia disorder

720601000Camptodactyly and tall stature with scoliosis and hearing loss syndrome disorder

722382006Cataract and microcornea syndrome disorder

43152001Central core disease disorder

782826009Charcot-Marie-Tooth disease type 2P disorder

764942005Colobomatous microphthalmia, rhizomelic dysplasia syndrome disorder

1351801008Combined immunodeficiency due to IKZF2 mutation disorder

702365002Combined malonic and methylmalonic aciduria disorder

1208413008Congenital fibre-type disproportion myopathy due to ACTA1 mutation disorder

1208416000Congenital fibre-type disproportion myopathy due to TPM3 mutation disorder

1230272009Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation disorder

1197059004Congenital ichthyosis, microcephalus, tetraplegia syndrome disorder

773728004Corticosteroid-binding globulin deficiency disorder

28259009Crigler-Najjar syndrome disorder

773735007Deafness with onychodystrophy syndrome disorder

783740007Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency disorder

58795000Distal muscular dystrophy disorder

722436002Dystrophic epidermolysis bullosa nails only disorder

784345005Epilepsy of infancy with migrating focal seizures disorder

70041004Erythrokeratodermia variabilis disorder

51022005Erythropoietic protoporphyria disorder

703226008Familial cerebral saccular aneurysm disorder

784348007Familial congenital mirror movements disorder

238078005Familial hypercholesterolaemia - homozygous disorder

442917000Familial long QT syndrome disorder

717788000Familial primary hypomagnesaemia with normocalciuria disorder

20725005Familial visceral neuropathy disorder

1172637002Female infertility due to oocyte meiotic arrest disorder

770726004Female infertility due to zona pellucida defect disorder

17144009Fibrochondrogenesis disorder

52616002Freeman-Sheldon syndrome disorder

764939004Fundus albipunctatus disorder

702426001GRN-related frontotemporal dementia disorder

766929007Genetic hyperferritinemia without iron overload disorder

1172696009Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome disorder

42484009HNSHA due to hexokinase deficiency disorder

766032007Hartsfield syndrome disorder

733467001Hereditary anetoderma disorder

239055005Hereditary clubbing disorder

31925001Hereditary factor I deficiency disease disorder

109620006Hereditary gingival fibromatosis disorder

715402001Hereditary glucocorticoid resistance disorder

724351008Hereditary hyperekplexia disorder

723362004Hereditary hypotrichosis simplex disorder

783255002Hereditary isolated aplastic anaemia disorder

55995005Hereditary spherocytosis disorder

1259242002Hereditary von Willebrand disease disorder

783696009Hyperandrogenism due to cortisone reductase deficiency disorder

771441005Hyperbiliverdinaemia disorder

30652003Hypermobile Ehlers-Danlos syndrome disorder

721172000Hypomagnesaemia co-occurrent with normocalciuria disorder

723363009Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome disorder

237651005Insulin resistance - type A disorder

1348306008Intermediate collagen VI-related muscular dystrophy disorder

1197156008Intermediate nemaline myopathy disorder

733091002Isolated hereditary congenital facial paralysis disorder

1216941002Ketoacidosis due to monocarboxylate transporter-1 deficiency disorder

1217208003L-ferritin deficiency disorder

722458000Matthew Wood syndrome disorder

253781004Megacystis, microcolon, hypoperistalsis syndrome disorder

1237514002Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome disorder

1255116001Myopathic Ehlers-Danlos syndrome disorder

699267007Myosin storage myopathy disorder

424795008Non dystrophic myotonia disorder

725164008Omodysplasia disorder

1003379004Osteogenesis imperfecta type 5 disorder

442511009Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome disorder

773771008Rare isolated myopia disorder

1366539009Resistance to thyroid stimulating hormone syndrome disorder

76520005Robinow syndrome disorder

1367656002SLC12A2-related developmental delay, intellectual disability, sensorineural deafness syndrome disorder

700062000Schöpf-Schulz-Passarge syndrome disorder

766817004Short stature due to growth hormone secretagogue receptor deficiency disorder

778010006Skin fragillity, woolly hair, palmoplantar keratoderma syndrome disorder

723553000Transient bullous dermolysis of newborn disorder

82203000Treacher Collins syndrome disorder

84193000Trehalase deficiency disorder

1197153000Typical nemaline myopathy disorder

17025000Vascular Ehlers-Danlos syndrome disorder

715952000Waardenburg Shah syndrome disorder

Parents (1)

Children (104)