ICD-10: E71.440

autoimmune polyendocrine syndrome type 2 monogenic disease obsolete complex genetic disease obsolete physical disorder OBSOLETED TERM obsolete genetic disorder obsolete peripheral dysostosis lacrimoauriculodentodigital syndrome 1 complement factor I deficiency mulibrey nanism familial partial lipodystrophy obsolete arachnodactyly Farber lipogranulomatosis Costello syndrome Carney complex bulbospinal polio obsolete acroosteolysis hypermethioninemia familial medullary thyroid carcinoma proteasome-associated autoinflammatory syndrome 1 X-linked sideroblastic anemia with ataxia obsolete infantile onset spinocerebellar ataxia spondylocostal dysostosis congenital disorder of glycosylation type I congenital disorder of glycosylation type II 2-hydroxyglutaric aciduria cranioectodermal dysplasia glycogen storage disease XV congenital generalized lipodystrophy muscular dystrophy-dystroglycanopathy type B1 glycogen storage disease IX ABCD syndrome ADULT syndrome anauxetic dysplasia 1 bestrophinopathy Boomerang dysplasia brachyolmia childhood electroclinical syndrome variable age at onset electroclinical syndrome AGAT deficiency COX deficiency, infantile mitochondrial myopathy methylmalonic aciduria and homocystinuria type cblC methylmalonic aciduria and homocystinuria type cblD cerebral folate receptor alpha deficiency ornithine translocase deficiency serine deficiency PHGDH deficiency PSAT deficiency tyrosinemia type II tyrosinemia type III Chanarin-Dorfman syndrome coenzyme Q10 deficiency disease X-linked monogenic disease autosomal dominant disease autosomal recessive disease autosomal genetic disease cerebellar ataxia ataxia with oculomotor apraxia type 1 deafness-dystonia-optic neuronopathy syndrome X-linked myopathy with excessive autophagy adenylosuccinase lyase deficiency ARC syndrome neuroacanthocytosis choreaacanthocytosis midface dysplasia mitochondrial complex V (ATP synthase) deficiency nuclear type 1 polycystic liver disease pheochromocytoma spastic ataxia 1 schneckenbecken dysplasia non-syndromic X-linked intellectual disability Meckel syndrome juvenile polyposis syndrome multiple cutaneous and mucosal venous malformations peroxisomal acyl-CoA oxidase deficiency guanidinoacetate methyltransferase deficiency Kahrizi syndrome mucopolysaccharidosis IX urofacial syndrome pyrimidine metabolic disorder orotic aciduria CHARGE syndrome cranio-facial dystonia Marshall-Smith syndrome fibroma inclusion body myopathy with Paget disease of bone and frontotemporal dementia spinocerebellar ataxia type 5 infantile cerebellar-retinal degeneration triosephosphate isomerase deficiency IMAGe syndrome syndromic intellectual disability synucleinopathy adrenal gland pheochromocytoma conjunctival nevus cecum adenoma rectal adenoma spastic ataxia 2 spastic ataxia 3 spastic ataxia 4 spastic ataxia 7 spastic ataxia Meier-Gorlin syndrome autosomal dominant intellectual developmental disorder autosomal recessive intellectual developmental disorder syndromic X-linked intellectual disability mitochondrial complex V (ATP synthase) deficiency nuclear type 2 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 CEDNIK syndrome ciliopathy acromelic frontonasal dysostosis Native American myopathy adenine phosphoribosyltransferase deficiency mitochondrial complex III deficiency nuclear type 2 acrofacial dysostosis Cincinnati type glycerol kinase deficiency mandibulofacial dysostosis with alopecia Hennekam syndrome orofaciodigital syndrome III orofaciodigital syndrome IV orofaciodigital syndrome V orofaciodigital syndrome VII orofaciodigital syndrome VIII acrofacial dysostosis X-linked hereditary ataxia spinocerebellar ataxia type 1 spinocerebellar ataxia type 2 spinocerebellar ataxia type 4 spinocerebellar ataxia type 7 spinocerebellar ataxia type 10 spinocerebellar ataxia type 11 spinocerebellar ataxia type 12 spinocerebellar ataxia type 13 obsolete spinocerebellar ataxia type 16 spinocerebellar ataxia type 17 autosomal dominant cerebellar ataxia, deafness and narcolepsy spinocerebellar ataxia type 18 spinocerebellar ataxia type 20 spinocerebellar ataxia type 23 spinocerebellar ataxia type 25 spinocerebellar ataxia type 26 spinocerebellar ataxia type 27 spinocerebellar ataxia type 29 spinocerebellar ataxia type 30 spinocerebellar ataxia type 31 spinocerebellar ataxia type 35 spinocerebellar ataxia type 36 spinocerebellar ataxia type 37 spinocerebellar ataxia type 38 spinocerebellar ataxia type 40 episodic ataxia type 3 episodic ataxia type 6 episodic ataxia type 7 episodic ataxia type 8 cerebellar ataxia, mental retardation and dysequlibrium syndrome nonprogressive cerebellar ataxia with mental retardation autosomal recessive spinocerebellar ataxia 10 CD3zeta deficiency janus kinase-3 deficiency MHC class I deficiency CD45 deficiency coronin-1A deficiency CD40 ligand deficiency lambda 5 deficiency immunoglobulin alpha deficiency developmental disorder of mental health obsolete neurological disorder popliteal pterygium syndrome familial juvenile hyperuricemic nephropathy pre-malignant neoplasm benign neoplasm cell type benign neoplasm bone benign neoplasm musculoskeletal system benign neoplasm nervous system benign neoplasm obsolete skeletal system benign neoplasm alpha chain disease mu chain disease dentatorubral-pallidoluysian atrophy homocarnosinosis acrofrontofacionasal dysostosis Baraitser-Winter syndrome Warburg micro syndrome Van Maldergem syndrome synpolydactyly MASA syndrome Simpson-Golabi-Behmel syndrome type 1 sclerosteosis scapuloperoneal myopathy renal-hepatic-pancreatic dysplasia pontocerebellar hypoplasia type 1A pontocerebellar hypoplasia type 1B pontocerebellar hypoplasia type 2A pontocerebellar hypoplasia type 2B pontocerebellar hypoplasia type 2E pontocerebellar hypoplasia type 4 pontocerebellar hypoplasia type 5 pontocerebellar hypoplasia type 6 pontocerebellar hypoplasia type 10 primary pigmented nodular adrenocortical disease omodysplasia congenital secretory chloride diarrhea 1 orofaciodigital syndrome XI acrofacial dysostosis Rodriguez type acrofacial dysostosis, Patagonia type chromosomal deletion syndrome chromosome 10q23 deletion syndrome chromosome 14q11-q22 deletion syndrome chromosome 15q25 deletion syndrome chromosome 16p11.2 deletion syndrome, 220-kb chromosome 16p12.1 deletion syndrome chromosome 16q22 deletion syndrome chromosome 18p deletion syndrome chromosome 22q11.2 deletion syndrome, distal chromosome 2p12-p11.2 deletion syndrome chromosome 2q31.2 deletion syndrome chromosome 3q13.31 deletion syndrome chromosome 3q29 microdeletion syndrome chromosome 4q21 deletion syndrome chromosome 5q12 deletion syndrome chromosome 6q11-q14 deletion syndrome chromosome 6q24-q25 deletion syndrome chromosome 19p13.13 deletion syndrome chromosomal duplication syndrome chromosome 16p11.2 duplication syndrome chromosome 16p13.3 duplication syndrome chromosome 17p13.3 duplication syndrome chromosome 17q12 duplication syndrome chromosome 17q21.31 duplication syndrome chromosome 1q21.1 duplication syndrome chromosome 22q11.2 microduplication syndrome chromosome 22q13 duplication syndrome Cole-Carpenter syndrome stromal dystrophy chromosome 3q29 microduplication syndrome chromosome 5p13 duplication syndrome Desbuquois dysplasia fibrochondrogenesis Kabuki syndrome Goldberg-Shprintzen syndrome MEDNIK syndrome Schimke immuno-osseous dysplasia Warsaw breakage syndrome ablepharon macrostomia syndrome ataxia with oculomotor apraxia type 3 lethal congenital contracture syndrome 1 anomalous left coronary artery from the pulmonary artery 3MC syndrome 1 3MC syndrome 2 XFE progeroid syndrome WHIM syndrome 1 obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum alpha-methylacyl-CoA racemase deficiency ulnar-mammary syndrome ethylmalonic encephalopathy lethal congenital contracture syndrome 3 lethal congenital contracture syndrome 4 lymphoproliferative syndrome familial chronic myelocytic leukemia-like syndrome autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 syndromic X-linked intellectual disability Lubs type syndromic X-linked intellectual disability 5 Prieto syndrome syndromic X-linked intellectual disability Hedera type syndromic X-linked intellectual disability 7 syndromic X-linked intellectual disability Siderius type Wilson-Turner syndrome syndromic X-linked intellectual disability Abidi type syndromic X-linked intellectual disability 14 X-linked intellectual disability-psychosis-macroorchidism syndrome Griscelli syndrome type 2 Griscelli syndrome type 3 hereditary neuropathy with liability to pressure palsies osteoporosis-pseudoglioma syndrome autosomal recessive pseudohypoaldosteronism type 1