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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-5878
http://purl.bioontology.org/ontology/CSP/1849-5878
|
|---|---|
| Preferred Name | inborn lysosomal enzyme disorder |
| Definitions |
inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
|
| Synonyms |
lysosomal storage disease
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates. |
|---|---|
| altLabel | lysosomal storage disease
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| prefLabel | inborn lysosomal enzyme disorder
|
| type | |
| tui | T047
|
| Inverse of RN |
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| notation | 1849-5878
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| Semantic type UMLS property | |
| DID | 1849-5878
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| cui | C0085078
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| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |