Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
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:
MIM: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)