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Echinobase
Summary Literature (0)
DOID:0060162 - dentatorubral-pallidoluysian atrophy

Disease Ontology Definition:An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.

Synonyms: DRPLA, Haw River Syndrome, Naito-Oyanagi disease,

Echinobase Genes :


OMIM:
MIM:125370 - dentatorubral-pallidoluysian atrophy; drpla

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)