Diseases

Name Orphanumber Description XREF(s)
Autosomal dominant epilepsy with auditory features 101046 A rare, genetic, familial partial… Orphanet, ICD-10, OMIM, OMIM, OMIM
Familial hypocalciuric hypercalcemia type 2 101049 Orphanet, ICD-10, MeSH, OMIM
Familial hypocalciuric hypercalcemia type 3 101050 Orphanet, MeSH, ICD-10, OMIM
Situs inversus totalis 101063 A rare, genetic, developmental defect… Orphanet, ICD-10
Congenital stromal corneal dystrophy 101068 Congenital stromal corneal dystrophy (… Orphanet, OMIM, ICD-10
Bilateral frontoparietal polymicrogyria 101070 Bilateral frontoparietal polymicrogyria… Orphanet, OMIM, ICD-10
X-linked Charcot-Marie-Tooth disease type 1 101075 X-linked Charcot-Marie-Tooth disease… Orphanet, OMIM, MeSH, ICD-10
X-linked Charcot-Marie-Tooth disease type 4 101078 X-linked Charcot-Marie-Tooth disease… Orphanet, ICD-10, OMIM
Charcot-Marie-Tooth disease type 1A 101081 Orphanet, ICD-10, OMIM
Charcot-Marie-Tooth disease type 1B 101082 Charcot-Marie-Tooth disease type 1B (… Orphanet, ICD-10, OMIM
Charcot-Marie-Tooth disease type 1C 101083 A rare, autosomal dominant, hereditary… Orphanet, ICD-10, MeSH, OMIM
Charcot-Marie-Tooth disease type 1D 101084 Charcot-Marie-Tooth disease type 1D (… Orphanet, MeSH, ICD-10, OMIM
Charcot-Marie-Tooth disease type 1F 101085 Charcot-Marie-Tooth disease type 1F (… Orphanet, ICD-10, OMIM
X-linked hyper-IgM syndrome 101088 Orphanet, ICD-10, OMIM
Hyper-IgM syndrome type 2 101089 Orphanet, ICD-10, OMIM
Hyper-IgM syndrome type 3 101090 Orphanet, ICD-10, OMIM
Hyper-IgM syndrome type 5 101092 Orphanet, ICD-10, OMIM
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness 101097 A severe, early-onset form of axonal… Orphanet, OMIM, OMIM, ICD-10
Charcot-Marie-Tooth disease type 2B2 101101 Charcot-Marie-Tooth disease, type 2B2 (… Orphanet, MeSH, OMIM, ICD-10
Charcot-Marie-Tooth disease type 2H 101102 Charcot-Marie-Tooth disease, type 2H (… Orphanet, OMIM, MeSH, ICD-10
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