Id http://purl.bioontology.org/ontology/CSP/1849-8130
http://purl.bioontology.org/ontology/CSP/1849-8130
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.
Type http://www.w3.org/2002/07/owl#Class
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