OBO ID: DOID:0111630
Term Name: familial erythrocytosis 8 Search Ontology:
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 familial erythrocytosis 8 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BPGM Erythrocytosis, familial, 8 222800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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