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Metadata
ID DOID:12858
Name Huntington's disease
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.
http://en.wikipedia.org/wiki/Huntington_disease, http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=118&Disease_Disease_Search_diseaseGroup=huntington&Disease_Disease_Search_diseaseType=Pat&Disease(s)%20concerned=Huntington-disease&title=Huntington-disease&search=Disease_Search_Simple
Xrefs

GARD:6677

ICD10CM:G10

ICD9CM:333.4

KEGG:05016

MESH:D006816

NCI:C82342

OMIM:143100

SNOMEDCT_US_2019_09_01:58756001

UMLS_CUI:C0020179

Subsets

DO_FlyBase_slim

NCIthesaurus

Synonyms

HD [EXACT]

Huntington disease [EXACT]

Huntington's chorea [EXACT]

Parent Relationships

is_a neurodegenerative disease

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