pyruvate kinase deficiency of red cells (DOID:0111077)
Alliance: disease page
Synonyms: hemolytic anemia due to red cell pyruvate kinase deficiency; PK deficiency; pyruvate kinase deficiency of erythrocyte
Alt IDs: OMIM:266200, MESH:C564858, ORDO:766
Definition: A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22.