Search Ontology:
Human Disease

familial erythrocytosis 1

Term ID
DOID:0060652
Synonyms
  • autosomal dominant benign erythrocytosis
  • ECYT1
  • primary familial and congenital polycythemia
Definition
A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. https://www.ncbi.nlm.nih.gov/pubmed/9292543
References
Ontology
Human Disease   ( DOID:0060652 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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