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DO Term : dentatorubral-pallidoluysian atrophy [DOID:0060162] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
GARD:5643,
125370,
SNOMEDCT_US_2023_03_01:702422004,
DRPLA,
OMIM:125370,
NCI:C122653,
Naito-Oyanagi disease,
UMLS_CUI:C0751781,
MESH:D020191,
Haw River Syndrome

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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