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Huntington's disease

^ http://purl.obolibrary.org/obo/DOID_12858


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. [ url: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 url:http://en.wikipedia.org/wiki/Huntington_disease ]

Synonyms: Huntington's chorea, Huntington disease, HD

Term info

database cross reference
  • SNOMEDCT_US_2018_03_01:58756001
  • ICD9CM:333.4
  • ICD10CM:G10
  • MESH:D006816
  • KEGG:05016
  • NCI:C82342
  • CSP2005:2057-3283
  • UMLS_CUI:C0020179
  • OMIM:143100
  • ICD9CM_2006:333.4
  • GARD:6677
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DO_FlyBase_slim, NCIthesaurus

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disease_ontology

id

DOID:12858

Term relations