spinocerebellar ataxia type 40

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ccdc88c

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014475 - spinocerebellar ataxia type 40

MONDO:0014475 - spinocerebellar ataxia type 40

MIM:

MIM:616053 - SPINOCEREBELLAR ATAXIA 40; SCA40

MIM:616053 - SPINOCEREBELLAR ATAXIA 40; SCA40

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)