Diseases

Name Orphanumber Description XREF(s)
Enamel-renal syndrome 1031 A extremely rare, genetic malformation… Orphanet, MeSH, ICD-10, OMIM
Acute myeloid leukemia with t(8;21)(q22;q22) translocation 102724 A rare acute myeloid leukemia with… Orphanet, ICD-10
Early-onset autosomal dominant Alzheimer disease 1020 Early-onset autosomal dominant… Orphanet, OMIM, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM
X-linked diffuse leiomyomatosis-Alport syndrome 1018 The association of X-linked Alport…
X-linked Alport syndrome-diffuse leiomyomatosis 1018 A rare renal disease characterized by… Orphanet, ICD-10, OMIM, OMIM
Familial isolated congenital asplenia 101351 Familial isolated congenital asplenia… Orphanet, ICD-10, OMIM
Autosomal recessive dopa-responsive dystonia 101150 A very rare neurometabolic disorder… Orphanet, OMIM, ICD-10
Spinocerebellar ataxia type 26 101112 A very rare subtype of autosomal… Orphanet, MeSH, ICD-10, OMIM
Spinocerebellar ataxia type 25 101111 Spinocerebellar ataxia type 25 (SCA25)… Orphanet, ICD-10, OMIM, MeSH
Spinocerebellar ataxia type 20 101110 Spinocerebellar ataxia type 20 (SCA20)… Orphanet, OMIM, MeSH, ICD-10
Spinocerebellar ataxia type 28 101109 Spinocerebellar ataxia type 28 (SCA28)… Orphanet, OMIM, MeSH, ICD-10
Spinocerebellar ataxia type 23 101108 Spinocerebellar ataxia type 23 (SCA23)… Orphanet, OMIM, ICD-10, MeSH
Charcot-Marie-Tooth disease type 2H 101102 Charcot-Marie-Tooth disease, type 2H (… Orphanet, OMIM, MeSH, ICD-10
Charcot-Marie-Tooth disease type 2B2 101101 Charcot-Marie-Tooth disease, type 2B2 (… Orphanet, MeSH, OMIM, ICD-10
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness 101097 A severe, early-onset form of axonal… Orphanet, OMIM, OMIM, ICD-10
Hyper-IgM syndrome type 5 101092 Orphanet, ICD-10, OMIM
Hyper-IgM syndrome type 3 101090 Orphanet, ICD-10, OMIM
Hyper-IgM syndrome type 2 101089 Orphanet, ICD-10, OMIM
X-linked hyper-IgM syndrome 101088 Orphanet, ICD-10, OMIM
Charcot-Marie-Tooth disease type 1F 101085 Charcot-Marie-Tooth disease type 1F (… Orphanet, ICD-10, OMIM
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