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A very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body. [ https://orcid.org/0000-0001-5208-3432 Orphanet : 905 ]

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C84756 (MONDO:equivalentTo)
  • MedDRA:10019819 (Orphanet:905/e)
  • GARD:0007893 (MONDO:equivalentTo)
  • SCTID:88518009 (MONDO:equivalentTo)
  • OMIM:277900 (Orphanet:905/e)
  • UMLS:C0019202 (Orphanet:905/e)
  • MESH:D006527 (Orphanet:905/e)
  • DOID:893 (MONDO:equivalentTo)
  • Orphanet:905 (OMIM:277900)
Subsets

gard_rare, ordo_disease, clingen

abbreviation
WD [ GARD : 0007893 ]
closeMatch
  • http://identifiers.org/meddra/10019819
definition
  • A very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.
exactMatch
  • http://identifiers.org/mesh/D006527
  • http://linkedlifedata.com/resource/umls/id/C0019202
  • http://www.orpha.net/ORDO/Orphanet_905
  • http://purl.obolibrary.org/obo/NCIT_C84756
  • http://purl.obolibrary.org/obo/DOID_893
  • http://identifiers.org/snomedct/88518009
  • https://omim.org/entry/277900
excluded subClassOf
  • http://purl.obolibrary.org/obo/MONDO_0044807
  • http://purl.obolibrary.org/obo/MONDO_0020127
  • http://purl.obolibrary.org/obo/MONDO_0005328
  • http://purl.obolibrary.org/obo/MONDO_0005071
  • http://purl.obolibrary.org/obo/MONDO_0019743
  • http://purl.obolibrary.org/obo/MONDO_0005395
  • http://purl.obolibrary.org/obo/MONDO_0020257
has exact synonym
  • Wilson's disease
  • Wilson disease
  • Westphal-Strumpell syndrome
  • hepatolenticular degeneration
  • cerebral pseudosclerosis
  • Westphal pseudosclerosis
has related synonym
  • hepatolenticular Degeneration
  • Wnd
  • WD
id
  • MONDO:0010200
seeAlso
  • https://rarediseases.info.nih.gov/diseases/7893/wilson-disease