FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term familial erythrocytosis 8 ID (Ontology) DOID:0111630 (Human Disease)
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.
Also Known As "bisphosphoglycerate mutase deficiency" ; "bisphosphoglyceromutase deficiency" ; "BPGM deficiency" (for all, see Synonyms field below)
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 Genes
 familial erythrocytosis 8       3
 for disease ribbon | familial erythrocytosis 8       3
 model of | familial erythrocytosis 8       3
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  polycythemia
   |__primary polycythemia
       |__familial erythrocytosis 8  3 rec.
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Is a primary polycythemia
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Synonyms
  • "bisphosphoglycerate mutase deficiency" EXACT
    "bisphosphoglyceromutase deficiency" EXACT
    "BPGM deficiency" EXACT
    "diphosphoglycerate mutase deficiency of erythrocyte" EXACT
    "DPGM deficiency" EXACT
    "ECYT8" EXACT OMO:0003012
    "hemolytic anemia due to diphosphoglycerate mutase deficiency" EXACT
Secondary IDs
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MIM:222800
ORDO:714