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 ]
Synonyms: Huntington's chorea Huntington's Disease Huntington disease Huntington chorea Huntington's disease HD
Term information
- DOID:12858 (MONDO:equivalentTo)
- SCTID:58756001 (MONDO:equivalentTo)
- NCIT:C82342 (MONDO:equivalentTo)
- OMIM:143100 (Orphanet:399/e)
- Orphanet:399 (OMIM:143100)
- UMLS:C0020179 (MONDO:equivalentTo)
- MESH:D006816 (https://orcid.org/0000-0003-1967-3726)
- MEDGEN:5654 (MONDO:equivalentTo)
- NANDO:1200012 (https://orcid.org/0000-0003-0011-764X)
- MedDRA:10070668 (Orphanet:399/e)
- ICD9:333.4 (MONDO:i2s)
- icd11.foundation:2132180242 (Orphanet:399)
- NORD:1256 (MONDO:NORD)
- GARD:6677 (MONDO:GARD)
ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare, clingen
http://www.orpha.net/ORDO/Orphanet_399
http://purl.obolibrary.org/obo/DOID_12858
http://identifiers.org/snomedct/58756001
https://omim.org/entry/143100
http://purl.obolibrary.org/obo/NCIT_C82342
http://identifiers.org/medgen/5654
http://linkedlifedata.com/resource/umls/id/C0020179
http://identifiers.org/mesh/D006816
Term relations
- movement disorder
- Huntington disease and related disorders
- disease has feature some dementia
- disease has feature some Oculomotor apraxia
- has material basis in germline mutation in some HTT
- has characteristic some rare