JSON

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://en.wikipedia.org/wiki/Huntington_disease 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 ]

Synonyms: Huntington's chorea, Huntington disease, HD

Term info

database cross reference
  • MESH:D006816
  • KEGG:05016
  • OMIM:143100
  • UMLS_CUI:C0020179
  • ICD10CM:G10
  • SNOMEDCT_US_2016_03_01:58756001
  • ICD9CM:333.4
  • SNOMEDCT_US_2016_03_01:155006000
  • NCI:C82342
has obo namespace

disease_ontology

id

DOID:12858

Term relations