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Disease Ontology Browser
familial erythrocytosis 8 (DOID:0111630)
Alliance: disease page
Synonyms: bisphosphoglycerate mutase deficiency; bisphosphoglyceromutase deficiency; BPGM deficiency; diphosphoglycerate mutase deficiency of erythrocyte; DPGM deficiency; ECYT8; hemolytic anemia due to diphosphoglycerate mutase deficiency
Alt IDs: OMIM:222800, ORDO:714
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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory