OBO ID: DOID:0050967
Term Name: spinocerebellar ataxia type 17 Search Ontology:
Synonyms:
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:
Ontology: Human Disease   ( DOID:0050967 )
Relationships
is a type of:
OTHER spinocerebellar ataxia type 17 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TBP Spinocerebellar ataxia 17 607136
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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