JSON

Wilson disease

Go to external page http://purl.obolibrary.org/obo/MONDO_0010200

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 ]

Synonyms: cerebral pseudosclerosis Wilson disease Westphal-Strumpell syndrome hepatolenticular degeneration Wilson's disease Westphal pseudosclerosis

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:88518009 (MONDO:equivalentTo)
  • MESH:D006527 (Orphanet:905/e)
  • MedDRA:10019819 (Orphanet:905/e)
  • NORD:1856 (MONDO:NORD)
  • DOID:893 (MONDO:equivalentTo)
  • NCIT:C84756 (MONDO:equivalentTo)
  • OMIM:277900 (Orphanet:905/e)
  • ICD10CM:E83.01 (https://orcid.org/0000-0001-9859-8589)
  • GARD:7893 (Orphanet:905)
  • Orphanet:905 (OMIM:277900)
  • UMLS:C0019202 (Orphanet:905/e)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6891

closeMatch

http://identifiers.org/meddra/10019819

exactMatch

http://identifiers.org/mesh/D006527

http://purl.bioontology.org/ontology/ICD10CM/E83.01

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

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005071

http://purl.obolibrary.org/obo/MONDO_0005328

http://purl.obolibrary.org/obo/MONDO_0044807

http://purl.obolibrary.org/obo/MONDO_0020127

http://purl.obolibrary.org/obo/MONDO_0020257

http://purl.obolibrary.org/obo/MONDO_0019743

http://purl.obolibrary.org/obo/MONDO_0005395

has related synonym

hepatolenticular Degeneration

Wnd

WD

id

MONDO:0010200

seeAlso

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

https://search.clinicalgenome.org/kb/conditions/MONDO:0010200