OBO ID: DOID:0050961
Term Name: spinocerebellar ataxia type 11 Search Ontology:
Synonyms:
Definition: An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abnormalities and peripheral neuropathy, has_material_basis_in mutation in the TTBK2 gene. https://rarediseases.info.nih.gov/diseases/10475/spinocerebellar-ataxia-11
References:
Ontology: Human Disease   ( DOID:0050961 )
OTHER spinocerebellar ataxia type 11 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TTBK2 Spinocerebellar ataxia 11 604432
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None