| Metadata | |
|---|---|
| ID | DOID:0050967 |
| Name | spinocerebellar ataxia type 17 |
| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a autosomal dominant cerebellar ataxia is_a digenic disease |