Spinocerebellar Ataxia Type 29

Preferred Label : Spinocerebellar Ataxia Type 29;

NCIt synonyms : Congenital Nonprogressive Cerebellar Ataxia; CNPCA; SCA29;

NCIt definition : An autosomal dominant form of spinocerebellar ataxia caused by mutation(s) in the ITPR1 gene, encoding inositol 1,4,5-trisphosphate-gated calcium channel ITPR1.;

Détails

Origin ID

C214867;

Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
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- ITPR1 Gene [NCIt concept]

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