Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body. [ Orphanet:905 ]

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:277900 (Orphanet:905)
  • ICD10:E83.01 (DOID:893)
  • GARD:0007893 (MONDO:equivalentTo)
  • SCTID:88518009 (MONDO:equivalentTo)
  • MESH:D006527 (Orphanet:905)
  • UMLS:C0019202 (Orphanet:905)
  • DOID:893 (MONDO:equivalentTo)
  • Orphanet:905 (OMIM:277900)
  • MedDRA:10019819 (Orphanet:905)
  • ICD10:E83.0 (Orphanet:905)
  • NCIT:C84756 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, clingen

abbreviation
WD [ GARD:0007893 ]

closeMatch

http://identifiers.org/meddra/10019819

definition

Wilson disease is 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://purl.obolibrary.org/obo/NCIT_C84756

http://identifiers.org/snomedct/88518009

http://linkedlifedata.com/resource/umls/id/C0019202

http://purl.obolibrary.org/obo/DOID_893

http://www.orpha.net/ORDO/Orphanet_905

https://omim.org/entry/277900

has exact synonym

cerebral pseudosclerosis

Wilson disease

Westphal-Strumpell syndrome

Wilson's disease

hepatolenticular degeneration

Westphal pseudosclerosis

has related synonym

hepatolenticular Degeneration

Wnd

WD

id

MONDO:0010200

seeAlso

https://rarediseases.info.nih.gov/diseases/7893/wilson-disease