Diseases

Name Orphanumber Description XREF(s)
Acrogeria 2500 A rare premature aging syndrome… Orphanet, OMIM, MeSH, ICD-10
Acrofacial dysostosis, Weyers type 952 A rare ectodermal dysplasia syndrome… Orphanet, OMIM, MeSH, ICD-10
Acrofacial dysostosis, Rodríguez type 1788 A rare, severe, multiple congenital… Orphanet, ICD-10, OMIM, MeSH
Acrodysostosis with multiple hormone resistance 280651 Orphanet, ICD-10, OMIM, OMIM
Acrodysostosis 950 An acromelic dysplasia that is… Orphanet, OMIM, OMIM, MeSH, ICD-10
Acrodermatitis enteropathica 37 A rare inherited inborn error of… Orphanet, OMIM, ICD-10
Acrodermatitis continua of Hallopeau 163931 A rare, genetic, chronic, recurrent,… Orphanet, ICD-10
Acrocapitofemoral dysplasia 63446 A rare skeletal dysplasi, characterized… Orphanet, ICD-10, OMIM
Acrocallosal syndrome 36 A rare polymalformative syndrome… Orphanet, OMIM, ICD-10
Acral self-healing collodion baby 281127 A variant of self-healing collodion… Orphanet, ICD-10
Acral peeling skin syndrome 263534 A rare peeling skin syndrome… Orphanet, ICD-10, OMIM
Acquired schizencephaly 485275 Orphanet, ICD-10, OMIM
Acquired partial lipodystrophy 79087 A rare acquired lipodystrophy… Orphanet, OMIM, ICD-10
Acquired idiopathic sideroblastic anemia 75564 A rare myelodysplastic syndrome (MDS)… Orphanet, ICD-10
Achromatopsia 49382 A rare autosomal recessive retinal… Orphanet, MedDRA, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM
Achondroplasia 15 A primary bone dysplasia with… Orphanet, OMIM, MedDRA, MeSH, ICD-10
Achondrogenesis type 2 93296 A rare, lethal type of achondrogenesis… Orphanet, MeSH, ICD-10, OMIM
Achondrogenesis type 1B 93298 A rare, lethal type of achondrogenesis… Orphanet, MeSH, OMIM, ICD-10
Achondrogenesis type 1A 93299 A rare, lethal type of achondrogenesis… Orphanet, ICD-10, OMIM, MeSH
Acheiropodia 931 An extremely rare developmental… Orphanet, OMIM, MeSH, ICD-10
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