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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-8130
http://purl.bioontology.org/ontology/CSP/1849-8130
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|---|---|
| Preferred Name | pyruvate kinase deficiency |
| Definitions |
autosomal recessive deficiency of the erythrocytic isozyme of pyruvate kinase, the most common glycolytic enzyme defect in the Embden-Meyerhof pathway; deficient product (ATP) causes chronic hemolytic anemia of widely variable severity.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | autosomal recessive deficiency of the erythrocytic isozyme of pyruvate kinase, the most common glycolytic enzyme defect in the Embden-Meyerhof pathway; deficient product (ATP) causes chronic hemolytic anemia of widely variable severity. |
|---|---|
| prefLabel | pyruvate kinase deficiency
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| Inverse of RO | |
| type | |
| tui | T047
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| notation | 1849-8130
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| Semantic type UMLS property | |
| DID | 1849-8130
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| cui | C0340968
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| Inverse of RB | |
| subClassOf |
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