familial erythrocytosis 8 (DOID:0111630)
Alliance: disease page
Synonyms: bisphosphoglycerate mutase deficiency; bisphosphoglyceromutase deficiency; BPGM deficiency; diphosphoglycerate mutase deficiency of erythrocyte; DPGM deficiency; ECYT8; hemolytic anemia due to diphosphoglycerate mutase deficiency
Alt IDs: OMIM:222800, ORDO:714
Definition: A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33.