OBO ID: DOID:0060652
Term Name: familial erythrocytosis 1 Search Ontology:
Synonyms:
  • autosomal dominant benign erythrocytosis
  • 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 familial erythrocytosis 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EPOR [Erythrocytosis, familial, 1] 133100
JAK2 Erythrocytosis, somatic 133100
SH2B3 Erythrocytosis, somatic 133100
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None