Search Ontology:
Human Disease
spinocerebellar ataxia type 17
- Term ID
- DOID:0050967
- Synonyms
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- Definition
- An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene. https://rarediseases.info.nih.gov/diseases/10469/spinocerebellar-ataxia-17
- References
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- GARD:10469
- MIM:607136
- Ontology
- Human Disease ( DOID:0050967 )
- is a type of
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Zebrafish Models