Diseases

Name Orphanumber Description XREF(s)
Arthrogryposis-renal dysfunction-cholestasis syndrome 2697 A rare, multisystem disorder,… Orphanet, MeSH, ICD-10, OMIM, OMIM
Aspartylglucosaminuria 93 An autosomal recessive lysosomal… Orphanet, MedDRA, ICD-10, OMIM, MeSH, MeSH
Ataxia with vitamin E deficiency 96 A neurodegenerative disease belonging… Orphanet, MedDRA, ICD-10, OMIM, MeSH
Ataxia-hypogonadism-choroidal dystrophy syndrome 1180 A very rare autosomal recessive, slowly… Orphanet, OMIM, ICD-10
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome 370022 A rare neuro-ophthalmological disease… Orphanet, ICD-10, OMIM
Ataxia-oculomotor apraxia type 4 459033 A rare autosomal recessive cerebellar… Orphanet, OMIM, ICD-10
Ataxia-oculomotor apraxia type 1 1168 A rare autosomal recessive cerebellar… Orphanet, OMIM, ICD-10
Ataxia-pancytopenia syndrome 2585 A rare genetic disease characterized by… Orphanet, ICD-10, OMIM
Ataxia-telangiectasia 100 A rare disorder characterized by the… Orphanet, MeSH, MedDRA, ICD-10, OMIM, OMIM
Ataxia-telangiectasia variant 370109 A rare, genetic, persistent combined… Orphanet, ICD-10
Ataxia-telangiectasia-like disorder 251347 A rare genetic disease characterized by… Orphanet, OMIM, ICD-10
Atelosteogenesis type I 1190 A Pierre Robin syndrome associated with… Orphanet, MeSH, OMIM, ICD-10
Atelosteogenesis type II 56304 A rare, lethal perinatal bone dysplasia… Orphanet, ICD-10, OMIM, MeSH
Atelosteogenesis type III 56305 A rare skeletal dysplasia characterized… Orphanet, OMIM, ICD-10
Athabaskan brainstem dysgenesis syndrome 69739 A rare, genetic, neurological disorder… Orphanet, MeSH, OMIM, ICD-10
Athyreosis 95713 A rare form of thyroid dysgenesis… Orphanet, OMIM, OMIM, ICD-10
ATP13A2-related juvenile neuronal ceroid lipofuscinosis 314632 A rare neuronal ceroid lipofiscinosis… Orphanet, ICD-10, OMIM
Atrial septal defect, ostium primum type 99106 Orphanet, MeSH, ICD-10
Atrial septal defect, ostium secundum type 99103 Orphanet, OMIM, OMIM, MedDRA, MedDRA, ICD-10, OMIM
Atrial septal defect, sinus venosus type 99105 Orphanet, MeSH, ICD-10
Download XLSX
Download PDF