congenital nonspherocytic hemolytic anemia 2

Summary

DOID:0111077 - congenital nonspherocytic hemolytic anemia 2

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, pyruvate kinase deficiency of erythrocyte, hemolytic anemia due to red cell pyruvate kinase deficiency, pyruvate kinase deficiency of red cells, Red cell pyruvate kinase deficiency

Echinobase 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

MIM:

MIM:266200 - pyruvate kinase deficiency of red cells

MIM:266200 - 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)