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DO Term : Huntington's disease [DOID:12858] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • Huntington disease,
  • Huntington's chorea,
  • ICD9CM:333.4,
  • UMLS_CUI:C0020179,
  • NCI:C82342,
  • GARD:6677,
  • SNOMEDCT_US_2023_03_01:58756001,
  • ICD10CM:G10,
  • MESH:D006816,
  • HD,
  • KEGG:05016,
  • 143100,
  • OMIM:143100
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents