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spinocerebellar ataxia type 17
Summary
- 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.
- Super Class
- autosomal dominant cerebellar ataxia digenic disease
External Links
- Disease Ontology
- DOID:0050967
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P30101 | Protein disulfide-isomerase A3 |
