Search Ontology:
Human Disease

Huntington's disease

Term ID
DOID:12858
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
  • MIM:143100
  • NCI:C82342
  • SNOMEDCT_US_2023_03_01:58756001
  • UMLS_CUI:C0020179
Ontology
Human Disease   ( DOID:12858 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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