OBO ID: DOID:12858
Term Name: Huntington's disease Search Ontology:
Synonyms:
  • HD
  • Huntington disease
  • Huntington's chorea
Definition: A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. (2)
References:
  • GARD:6677
  • ICD10CM:G10
  • ICD9CM:333.4
  • KEGG:05016
  • MESH:D006816
  • NCI:C82342
  • OMIM:143100
  • SNOMEDCT_US_2019_09_01:58756001
  • UMLS_CUI:C0020179
Ontology: Human Disease   (DOID:12858)
OTHER Huntington's disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HTT Huntington disease 143100
PHENOTYPE No data available

CITATIONS (4)