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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
![Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries](img/icons/info1.png)
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