Search Ontology:
Human Disease
dentatorubral-pallidoluysian atrophy
- Term ID
- DOID:0060162
- Synonyms
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- DRPLA
- Haw River Syndrome
- Naito-Oyanagi disease
- 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
- References
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- GARD:5643
- MESH:D020191
- MIM:125370
- NCI:C122653
- SNOMEDCT_US_2023_03_01:702422004
- UMLS_CUI:C0751781
- Ontology
- Human Disease ( DOID:0060162 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models