Diseases

Name Orphanumber Description XREF(s)
Spinocerebellar ataxia type 8 98760 Spinocerebellar ataxia type 8 (SCA8) is… Orphanet, ICD-10, OMIM, MeSH
Spinocerebellar ataxia type 10 98761 Spinocerebellar ataxia type 10 (SCA10)… Orphanet, ICD-10, OMIM
Spinocerebellar ataxia type 12 98762 Spinocerebellar ataxia type 12 (SCA12)… Orphanet, ICD-10, OMIM
Spinocerebellar ataxia type 14 98763 Spinocerebellar ataxia type 14 (SCA14)… Orphanet, OMIM, MeSH, ICD-10
Spinocerebellar ataxia type 27 98764 Spinocerebellar ataxia type 27 (SCA27)… Orphanet, OMIM, MeSH, ICD-10
Spinocerebellar ataxia type 4 98765 Spinocerebellar ataxia type 4 (SCA4) is… Orphanet, OMIM, ICD-10
Spinocerebellar ataxia type 5 98766 An autosomal dominant cerebellar ataxia… Orphanet, OMIM, ICD-10
Spinocerebellar ataxia type 11 98767 A rare neurologic disease that is… Orphanet, OMIM, ICD-10
Spinocerebellar ataxia type 13 98768 Spinocerebellar ataxia type 13 (SCA13)… Orphanet, OMIM, MeSH, ICD-10
Spinocerebellar ataxia type 15/16 98769 Spinocerebellar ataxia type 15/16 (… Orphanet, OMIM, ICD-10
Spinocerebellar ataxia type 18 98771 Spinocerebellar ataxia type 18 (SCA18)… Orphanet, OMIM, MeSH, ICD-10
Spinocerebellar ataxia type 19/22 98772 Spinocerebellar ataxia type 19 (SCA19)… Orphanet, OMIM, MeSH, ICD-10
Spinocerebellar ataxia type 21 98773 Spinocerebellar ataxia type 21 (SCA21)… Orphanet, OMIM, MeSH, ICD-10
Autosomal dominant nocturnal frontal lobe epilepsy 98784 A rare seizure disorder characterized… Orphanet, OMIM, OMIM, OMIM, OMIM, OMIM, ICD-10
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 98791 A rare developmental defect during… Orphanet, ICD-10, OMIM
Angelman syndrome due to maternal 15q11q13 deletion 98794 Orphanet, ICD-10
Angelman syndrome due to paternal uniparental disomy of chromosome 15 98795 Orphanet, ICD-10
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome 988 Tibial hemimelia-polysyndactyly-… Orphanet, OMIM, MeSH, ICD-10
Primary dystonia, DYT4 type 98805 DYT4 type primary dystonia is… Orphanet, OMIM, ICD-10
Primary dystonia, DYT6 type 98806 A rare genetic movement disorder… Orphanet, OMIM, ICD-10
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