Summary Literature (0)

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

In OMIM:

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