Human genes for familial erythrocytosis 8
Familial erythrocytosis 8 [DOID:0111630]
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.
Synonyms: familial erythrocytosis 8, DOID:0111630, hereditary erythrocytosis 8, bisphosphoglycerate mutase deficiency, bisphosphoglyceromutase deficiency ...