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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-5764
http://purl.bioontology.org/ontology/CSP/1849-5764
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|---|---|
| Preferred Name | cholesterol ester storage disease |
| Definitions |
rare benign adult form of inherited lysosomal lipid storage disease that is due to deficiency of acid lipase; results in an accumulation of neutral lipids, particularly cholesterol esters, within cells (particularly leukocytes, fibroblasts, and liver cells); it is an allelic variant of Wolman disease.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | rare benign adult form of inherited lysosomal lipid storage disease that is due to deficiency of acid lipase; results in an accumulation of neutral lipids, particularly cholesterol esters, within cells (particularly leukocytes, fibroblasts, and liver cells); it is an allelic variant of Wolman disease. |
|---|---|
| prefLabel | cholesterol ester storage disease
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| type | |
| tui | T047
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| notation | 1849-5764
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| Semantic type UMLS property | |
| DID | 1849-5764
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| cui | C0008384
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| Inverse of RB | |
| subClassOf |
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