OBO ID: DOID:0050882
Term Name: spinocerebellar ataxia type 5 Search Ontology:
Synonyms:
Definition: An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene. (2)
References:
Ontology: Human Disease   (DOID:0050882)
OTHER spinocerebellar ataxia type 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SPTBN2 Spinocerebellar ataxia 5 600224
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None