|  Help  |  About  |  Contact Us

DO Term : familial erythrocytosis 8 [DOID:0111630] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • hemolytic anemia due to diphosphoglycerate mutase deficiency,
  • bisphosphoglyceromutase deficiency,
  • diphosphoglycerate mutase deficiency of erythrocyte,
  • bisphosphoglycerate mutase deficiency,
  • ECYT8,
  • ORDO:714,
  • OMIM:222800,
  • 222800,
  • BPGM deficiency,
  • DPGM deficiency
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents