loading...| Preferred Name | Wilson disease | |
| Synonyms |
hepatolenticular Degeneration WD Wnd Wilson disease hepatolenticular degeneration cerebral pseudosclerosis Westphal-Strumpell syndrome Wilson's disease Westphal pseudosclerosis |
|
| Definitions |
A very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0010200 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0010200 |
|
| database_cross_reference |
ICD10CM:E83.01 NANDO:2200579 MEDGEN:42426 icd11.foundation:468161208 MedDRA:10019819 Orphanet:905 MESH:D006527 OMIM:277900 SCTID:88518009 UMLS:C0019202 NANDO:1200655 NCIT:C84756 DOID:893 GARD:7893 NORD:1856 |
|
| 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. |
|
| has_exact_synonym |
Wilson disease hepatolenticular degeneration cerebral pseudosclerosis Westphal-Strumpell syndrome Wilson's disease Westphal pseudosclerosis |
|
| has_related_synonym |
hepatolenticular Degeneration WD Wnd |
|
| IAO_0000233 | ||
| id |
MONDO:0010200 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Wilson disease |
|
| notation |
MONDO:0010200 |
|
| preferred label |
Wilson disease |
|
| prefLabel |
Wilson disease |
|
| see also |
https://rarediseases.info.nih.gov/diseases/7893/wilson-disease |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/snomedct/88518009 http://purl.obolibrary.org/obo/Orphanet_905 http://purl.obolibrary.org/obo/NCIT_C84756 http://linkedlifedata.com/resource/umls/id/C0019202 http://identifiers.org/medgen/42426 http://purl.obolibrary.org/obo/DOID_893 http://purl.bioontology.org/ontology/ICD10CM/E83.01 http://identifiers.org/mesh/D006527 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/468161208 |
|
| subClassOf | ||
| excluded_subClassOf |
http://purl.obolibrary.org/obo/MONDO_0005071 http://purl.obolibrary.org/obo/MONDO_0005395 http://purl.obolibrary.org/obo/MONDO_0020257 http://purl.obolibrary.org/obo/MONDO_0005328 http://purl.obolibrary.org/obo/MONDO_0019743 |