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:
Ontology: Human Disease   ( DOID:0060162 )
Relationships
is a type of:
OTHER dentatorubral-pallidoluysian atrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATN1 Dentatorubral-pallidoluysian atrophy 125370
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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