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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • familial erythrocytosis 8
described by
id
  • DOID:0111630
database_cross_reference
  • OMIM:222800
  • ORDO:714
has_exact_synonym
  • diphosphoglycerate mutase deficiency of erythrocyte (en)
  • BPGM deficiency (en)
  • DPGM deficiency (en)
  • ECYT8 (en)
  • bisphosphoglycerate mutase deficiency (en)
  • bisphosphoglyceromutase deficiency (en)
  • hemolytic anemia due to diphosphoglycerate mutase deficiency (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in BPGM on chromosome 7q33.
is topic of
is annotatedSource of
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