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Summary Literature (0)
DOID:0050986 - spinocerebellar ataxia type 40


Disease Ontology Definition:An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalities, dysarthria, tremor and hyporeflexia, has_material_basis_in mutation in the CCDC88C gene.

Synonyms:

Xenbase Genes : ccdc88c

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014475 - spinocerebellar ataxia type 40


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant cerebellar ataxia (is_a)