Term Name: | pyruvate kinase deficiency of red cells |
---|---|
Synonyms: | hemolytic anemia due to red cell pyruvate kinase deficiency, PK deficiency, pyruvate kinase deficiency of erythrocyte |
Definition: | A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22. |
Ontology: | Human Disease [DOID:0111077] ( DOID:0111077 ) |