Term Name: congenital nonspherocytic hemolytic anemia 2
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
Definition: A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22.
Ontology: Human Disease [DOID:0111077]   ( DOID:0111077 )

Relationships
is a type of: autosomal recessive disease congenital nonspherocytic hemolytic anemia