spinocerebellar ataxia type 17

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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:

Echinobase 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

: tbp

MIM:

MIM:607136 - spinocerebellar ataxia 17; sca17

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)