Term Name: | congenital nonspherocytic hemolytic anemia 2 |
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Synonyms: | hemolytic anemia due to red cell pyruvate kinase deficiency, PK deficiency, pyruvate kinase deficiency of erythrocyte, pyruvate kinase deficiency of red cells, Red cell pyruvate kinase deficiency |
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 ) |