Term Name: familial erythrocytosis 8
Synonyms: bisphosphoglycerate mutase deficiency, bisphosphoglyceromutase deficiency, BPGM deficiency, diphosphoglycerate mutase deficiency of erythrocyte, DPGM deficiency, ECYT8, hemolytic anemia due to diphosphoglycerate mutase deficiency
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.
Ontology: Human Disease [DOID:0111630]   ( DOID:0111630 )

Relationships
is a type of: primary polycythemia