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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:12858 (MONDO:equivalentTo)
  • KEGG:05016 (MONDO:equivalentTo)
  • COHD:374341 (MONDO:equivalentTo)
  • ICD10:G10 (Orphanet:399)
  • NCIT:C82342 (MONDO:equivalentTo)
  • Orphanet:399 (OMIM:143100)
  • SCTID:58756001 (MONDO:equivalentTo)
  • MedDRA:10070668 (Orphanet:399)
  • UMLS:C0020179 (Orphanet:399)
  • OMIM:143100 (Orphanet:399)
  • GARD:0006677 (Orphanet-shared)
  • ICD9:333.4 (i2s)
Subsets

ordo_disease

abbreviation
HD [ MONDO:Lexical https://omim.org/entry/143100 DOID:12858 CSP2005:2057-3283 ]

closeMatch

http://identifiers.org/snomedct/155006000

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://www.orpha.net/ORDO/Orphanet_399

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

http://identifiers.org/snomedct/58756001

http://purl.obolibrary.org/obo/NCIT_C82342

http://linkedlifedata.com/resource/umls/id/C0020179

http://identifiers.org/mesh/D006816

http://identifiers.org/meddra/10070668

http://identifiers.org/omim/143100

excluded from QC check

http://purl.obolibrary.org/obo/mondo/sparql/single-child-tags.sparql

has exact synonym

Huntington's chorea

Huntington disease

Huntington chorea

HD

Huntington's disease

id

MONDO:0007739