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Summary Literature (0)
DOID:0050967 - spinocerebellar ataxia type 17


Disease Ontology 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.

Synonyms:

Xenbase Genes : tbp

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011781 - spinocerebellar ataxia type 17

MIM:
MIM:607136 - SPINOCEREBELLAR ATAXIA 17; SCA17

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), digenic disease (is_a)