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Echinobase
Summary Literature (0)
DOID:0111077 - pyruvate kinase deficiency of red cells


Disease Ontology Definition:A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22.

Synonyms: PK deficiency, hemolytic anemia due to red cell pyruvate kinase deficiency, pyruvate kinase deficiency of erythrocyte,

Echinobase Genes : pklr


OMIM:
OMIM:266200 - pyruvate kinase deficiency of red cells

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): congenital nonspherocytic hemolytic anemia (is_a)