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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-5821
http://purl.bioontology.org/ontology/CSP/1849-5821
|
|---|---|
| Preferred Name | Wolman's disease |
| Definitions |
severe infantile form of inherited lysosomal lipid storage disease due to deficiency of acid lipase; results in accumulation of neutral lipids, particularly cholesterol esters, within cells.
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| Synonyms |
Wolman xanthomatosis
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | severe infantile form of inherited lysosomal lipid storage disease due to deficiency of acid lipase; results in accumulation of neutral lipids, particularly cholesterol esters, within cells. |
|---|---|
| altLabel | Wolman xanthomatosis
|
| prefLabel | Wolman's disease
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| type | |
| tui | T047
|
| notation | 1849-5821
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| Semantic type UMLS property | |
| DID | 1849-5821
|
| cui | C0043208
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| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |