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Metadata
ID DOID:0060162
Name dentatorubral-pallidoluysian atrophy
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.
http://en.wikipedia.org/wiki/Dentatorubral-pallidoluysian_atrophy
Xrefs

GARD:5643

MESH:D020191

NCI:C122653

NCI:C7636

OMIM:125370

SNOMEDCT_US_2018_03_01:68116008

SNOMEDCT_US_2018_03_01:89480000

UMLS_CUI:C0751776

UMLS_CUI:C0751777

UMLS_CUI:C0751778

UMLS_CUI:C0751779

UMLS_CUI:C0751780

UMLS_CUI:C0751781

UMLS_CUI:C0751782

Subsets

DO_FlyBase_slim

NCIthesaurus

Synonyms

DRPLA [EXACT]

Haw River Syndrome [EXACT]

Naito-Oyanagi disease [EXACT]

Parent Relationships

is_a autosomal dominant cerebellar ataxia

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