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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-8519
http://purl.bioontology.org/ontology/CSP/1849-8519
|
|---|---|
| Preferred Name | fucosidosis |
| Definitions |
lysosomal storage disease caused by defective alpha-L-fucosidase and accumulation of fucose containing glycoconjugates; clinical symptoms include psychomotor deterioration, growth retardation, hepatosplenomegaly, cardiomegaly, and seizures.
|
| Synonyms |
alpha fucosidase deficiency
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | lysosomal storage disease caused by defective alpha-L-fucosidase and accumulation of fucose containing glycoconjugates; clinical symptoms include psychomotor deterioration, growth retardation, hepatosplenomegaly, cardiomegaly, and seizures. |
|---|---|
| altLabel | alpha fucosidase deficiency
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| prefLabel | fucosidosis
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| Inverse of RO | |
| type | |
| tui | T047
|
| notation | 1849-8519
|
| Semantic type UMLS property | |
| DID | 1849-8519
|
| cui | C0016788
|
| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |