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DOID:0050882 - spinocerebellar ataxia type 5
Disease Ontology 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.
Synonyms:
Xenbase Genes
:
sptbn2
| MONDO:0010848 - radius-ulna cartilage element |
| MIM:600224 - SPINOCEREBELLAR ATAXIA 5; SCA5 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant cerebellar ataxia (is_a)