Search Ontology:
Human Disease

familial erythrocytosis 8

Term ID
DOID:0111630
Synonyms
  • bisphosphoglycerate mutase deficiency
  • bisphosphoglyceromutase deficiency
  • BPGM deficiency
  • diphosphoglycerate mutase deficiency of erythrocyte
  • DPGM deficiency
  • ECYT8
  • hemolytic anemia due to diphosphoglycerate mutase deficiency
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. https://www.ncbi.nlm.nih.gov/pubmed/2542247
References
Ontology
Human Disease   ( DOID:0111630 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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