Human genes for pyruvate kinase deficiency of red cells
Pyruvate kinase deficiency of red cells [DOID:0111077]
A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22.
Synonyms: pyruvate kinase deficiency of red cells, DOID:0111077, pyruvate kinase deficiency of red cellses, hemolytic anemia due to red cell pyruvate kinase deficiency, PK deficiency ...