OBO ID: DOID:0090104
Term Name: Huntington's disease-like 2 Search Ontology:
Synonyms:
  • HDL2
  • Huntington disease-like 2
Definition: A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24. (2)
References:
Ontology: Human Disease   ( DOID:0090104 )
Relationships
is a type of:
OTHER Huntington's disease-like 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
JPH3 Huntington disease-like 2 606438
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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