BPGM deficiencydiphosphoglycerate mutase deficiency of erythrocytebisphosphoglycerate mutase deficiencybisphosphoglyceromutase deficiencyECYT8hemolytic anemia due to diphosphoglycerate mutase deficiencyDPGM deficiency
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in BPGM on chromosome 7q33.