DOID:0111630 - familial erythrocytosis 8
Disease Ontology Definition: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: BPGM deficiency, DPGM deficiency, ECYT8, bisphosphoglycerate mutase deficiency, bisphosphoglyceromutase deficiency, diphosphoglycerate mutase deficiency of erythrocyte, hemolytic anemia due to diphosphoglycerate mutase deficiency
|OMIM:222800 - ERYTHROCYTOSIS, FAMILIAL, 8; ECYT8|
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes : bpgm
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): primary polycythemia (is_a)