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Metadata
DOID 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

CSP2005:2057-3283

GARD:6677

ICD10CM:G10

ICD9CM:333.4

ICD9CM_2006:333.4

KEGG:05016

MESH:D006816

NCI:C82342

OMIM:143100

SNOMEDCT_US_2018_03_01:58756001

UMLS_CUI:C0020179

Subsets

DO_FlyBase_slim

NCIthesaurus

Synonyms

HD [EXACT]

Huntington disease [EXACT]

Huntington's chorea [EXACT]

Relationships

is_a neurodegenerative disease

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