Diseases

Name Orphanumber Description XREF(s)
Spinocerebellar ataxia type 23 101108 Spinocerebellar ataxia type 23 (SCA23)… Orphanet, OMIM, ICD-10, MeSH
Spinocerebellar ataxia type 28 101109 Spinocerebellar ataxia type 28 (SCA28)… Orphanet, OMIM, MeSH, ICD-10
Spinocerebellar ataxia type 20 101110 Spinocerebellar ataxia type 20 (SCA20)… Orphanet, OMIM, MeSH, ICD-10
Spinocerebellar ataxia type 25 101111 Spinocerebellar ataxia type 25 (SCA25)… Orphanet, ICD-10, OMIM, MeSH
Spinocerebellar ataxia type 26 101112 A very rare subtype of autosomal… Orphanet, MeSH, ICD-10, OMIM
Autosomal recessive dopa-responsive dystonia 101150 A very rare neurometabolic disorder… Orphanet, OMIM, ICD-10
Familial isolated congenital asplenia 101351 Familial isolated congenital asplenia… Orphanet, ICD-10, OMIM
X-linked Alport syndrome-diffuse leiomyomatosis 1018 A rare renal disease characterized by… Orphanet, ICD-10, OMIM, OMIM
X-linked diffuse leiomyomatosis-Alport syndrome 1018 The association of X-linked Alport…
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
Acute myeloid leukemia with t(8;21)(q22;q22) translocation 102724 A rare acute myeloid leukemia with… Orphanet, ICD-10
Enamel-renal syndrome 1031 A extremely rare, genetic malformation… Orphanet, MeSH, ICD-10, OMIM
Congenital sodium diarrhea 103908 A rare, genetic, non-syndromic… Orphanet, ICD-10, OMIM, OMIM
Trehalase deficiency 103909 A rare, genetic, intestinal disease… Orphanet, ICD-10, OMIM
Tropical pancreatitis 103918 A rare pancreatic disease of juvenile… Orphanet, OMIM, ICD-10
Leber hereditary optic neuropathy 104 A rare hereditary optic neuropathy… Orphanet, OMIM, ICD-10, OMIM, OMIM
Metaphyseal anadysplasia 1040 A rare form of metaphyseal dysplasia… Orphanet, MeSH, ICD-10, OMIM, OMIM
Myopathic intestinal pseudoobstruction 104077 Orphanet, ICD-10
Isolated anencephaly/exencephaly 1048 A neural tube defect. This malformation… Orphanet, OMIM, ICD-10
Mosaic variegated aneuploidy syndrome 1052 Mosaic variegated aneuploidy (MVA)… Orphanet, MeSH, OMIM, OMIM, OMIM, OMIM, ICD-10, OMIM
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