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ZIRC
OBO ID: DOID:0060162
Term Name: dentatorubral-pallidoluysian atrophy Search Ontology:
Synonyms:
  • 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:
  • GARD:5643
  • MESH:D020191
  • NCI:C122653
  • NCI:C7636
  • OMIM:125370
  • SNOMEDCT_US_2018_03_01:68116008
  • SNOMEDCT_US_2018_03_01:89480000
  • UMLS_CUI:C0751776
  • UMLS_CUI:C0751777
  • UMLS_CUI:C0751778
  • UMLS_CUI:C0751779
  • UMLS_CUI:C0751780
  • UMLS_CUI:C0751781
  • UMLS_CUI:C0751782
Ontology: Human Disease   (DOID:0060162)
OTHER dentatorubral-pallidoluysian atrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATN1 Dentatorubro-pallidoluysian atrophy 125370
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None