pyruvate kinase deficiency of red cells

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pklr

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009950 - pyruvate kinase deficiency of red cells

MONDO:0009950 - pyruvate kinase deficiency of red cells

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), congenital nonspherocytic hemolytic anemia (is_a)