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dentatorubral-pallidoluysian atrophy

^ http://purl.obolibrary.org/obo/DOID_0060162


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. [ url:http://en.wikipedia.org/wiki/Dentatorubral-pallidoluysian_atrophy ]

Synonyms: Haw River Syndrome, DRPLA, Naito-Oyanagi disease

Term info

database cross reference
  • UMLS_CUI:C0751781
  • UMLS_CUI:C0751776
  • NCI:C122653
  • UMLS_CUI:C0751780
  • UMLS_CUI:C0751778
  • MESH:D020191
  • GARD:5643
  • SNOMEDCT_US_2018_03_01:89480000
  • UMLS_CUI:C0751782
  • UMLS_CUI:C0751779
  • UMLS_CUI:C0751777
  • SNOMEDCT_US_2018_03_01:68116008
  • OMIM:125370
  • NCI:C7636
Subsets

DO_FlyBase_slim, NCIthesaurus

created by

lschriml

creation date

2011-08-29T01:41:48Z

has obo namespace

disease_ontology

id

DOID:0060162