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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 the BPGM gene on chromosome 7q33.
Synonyms: bisphosphoglycerate mutase deficiency, bisphosphoglyceromutase deficiency, BPGM deficiency, diphosphoglycerate mutase deficiency of erythrocyte, DPGM deficiency, ECYT8, hemolytic anemia due to diphosphoglycerate mutase deficiency
Xenbase Genes
:
bpgm
| MIM:222800 - ERYTHROCYTOSIS, FAMILIAL, 8; ECYT8 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
primary polycythemia (is_a)