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 |
Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
Synonyms |
DRPLA [EXACT] Haw River Syndrome [EXACT] Naito-Oyanagi disease [EXACT] |
Parent Relationships |