loading...| Preferred Name | Wilson disease | |
| Synonyms |
Westphal-Strumpell syndrome Westphal pseudosclerosis Wilson's disease Cerebral pseudosclerosis hepatolenticular degeneration |
|
| Definitions |
A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_893 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| alternative label |
Westphal-Strumpell syndrome Westphal pseudosclerosis Wilson's disease Cerebral pseudosclerosis hepatolenticular degeneration |
|
| database_cross_reference |
ICD10CM:E83.01 SNOMEDCT_US_2023_03_01:88518009 UMLS_CUI:C0019202 MESH:D006527 GARD:7893 MIM:277900 NCI:C84756 |
|
| definition |
A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. OMIM mapping confirmed by DO. [SN]. |
|
| has exact synonym |
Westphal-Strumpell syndrome Westphal pseudosclerosis Wilson's disease Cerebral pseudosclerosis hepatolenticular degeneration |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:893 |
|
| in_subset | ||
| label |
Wilson disease |
|
| notation |
DOID:893 |
|
| note |
A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. OMIM mapping confirmed by DO. [SN]. |
|
| preferred label |
Wilson disease |
|
| prefLabel |
Wilson disease |
|
| subClassOf |