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Summary Literature (0)
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: hemolytic anemia due to red cell pyruvate kinase deficiency, PK deficiency, pyruvate kinase deficiency of erythrocyte, pyruvate kinase deficiency of red cells, Red cell pyruvate kinase deficiency

Xenbase Genes : pklr

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009950 - olfactory bulb plexiform layer

MIM:
MIM:266200 - ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 2; CNSHA2

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)