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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
Parent(s): primary polycythemia (is_a)