loading...| Preferred Name | Wilson disease | |
| Synonyms |
hepatolenticular Degeneration Wnd WD cerebral pseudosclerosis Westphal pseudosclerosis Wilson's disease Westphal-Strumpell syndrome hepatolenticular degeneration Wilson disease |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0010200 |
|
| closeMatch |
http://identifiers.org/snomedct/191710006 http://identifiers.org/snomedct/267504005 http://identifiers.org/snomedct/154751003 |
|
| database_cross_reference |
DOID:893 ICD10:E83.01 NCIT:C84756 MedDRA:10019819 OMIM:277900 Orphanet:905 MESH:D006527 SCTID:88518009 UMLS:C0019202 ICD10:E83.0 GARD:0007893 |
|
| disease has basis in dysfunction of | ||
| exactMatch |
http://identifiers.org/snomedct/88518009 http://identifiers.org/omim/277900 http://purl.obolibrary.org/obo/NCIT_C84756 http://linkedlifedata.com/resource/umls/id/C0019202 http://purl.obolibrary.org/obo/DOID_893 http://identifiers.org/mesh/D006527 |
|
| has exact synonym |
cerebral pseudosclerosis Westphal pseudosclerosis Wilson's disease Westphal-Strumpell syndrome hepatolenticular degeneration Wilson disease |
|
| has related synonym |
hepatolenticular Degeneration Wnd WD |
|
| id |
MONDO:0010200 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_disease |
|
| label |
Wilson disease |
|
| notation |
MONDO:0010200 |
|
| prefLabel |
Wilson disease |
|
| see also |
https://rarediseases.info.nih.gov/diseases/7893/wilson-disease |
|
| textual 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. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0004689 http://purl.obolibrary.org/obo/MONDO_0020279 http://purl.obolibrary.org/obo/MONDO_0019058 http://purl.obolibrary.org/obo/MONDO_0020257 http://purl.obolibrary.org/obo/MONDO_0016133 http://purl.obolibrary.org/obo/MONDO_0020280 http://purl.obolibrary.org/obo/MONDO_0018265 http://purl.obolibrary.org/obo/MONDO_0019743 http://purl.obolibrary.org/obo/MONDO_0017762 |