| 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 |
SNOMEDCT_US_2023_03_01:702422004 |
| SKOS |
exactMatch MESH:D020191 exactMatch NCI:C122653 exactMatch UMLS_CUI:C0751781 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
DRPLA [EXACT] Haw River Syndrome [EXACT] Naito-Oyanagi disease [EXACT] |
| Parent Relationships |