JSON

Huntington disease

^ http://purl.obolibrary.org/obo/MONDO_0007739

Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. [ Orphanet:399 ]

Term info

database cross reference
  • Orphanet:399 (OMIM:143100)
  • MESH:D006816 (https://orcid.org/0000-0003-1967-3726)
  • ICD9:333.4 (MONDO:i2s)
  • GARD:0006677 (MONDO:equivalentTo)
  • MedDRA:10070668 (Orphanet:399/e)
  • SCTID:58756001 (MONDO:equivalentTo)
  • NCIT:C82342 (MONDO:equivalentTo)
  • OMIM:143100 (Orphanet:399/e)
  • UMLS:C0020179 (Orphanet:399/e)
  • DOID:12858 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
HD [ OMIM:143100 DOID:12858 MONDO:Lexical ]

closeMatch

http://identifiers.org/meddra/10070668

definition

Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.

exactMatch

http://purl.obolibrary.org/obo/DOID_12858, http://identifiers.org/snomedct/58756001, http://purl.obolibrary.org/obo/Orphanet_399, https://omim.org/entry/143100, http://purl.obolibrary.org/obo/NCIT_C82342, http://linkedlifedata.com/resource/umls/id/C0020179, http://identifiers.org/mesh/D006816

has exact synonym

Huntington's chorea, Huntington disease, Huntington chorea, HD, Huntington's disease

id

MONDO:0007739