familial erythrocytosis 1

Summary

DOID:0060652 - familial erythrocytosis 1

Disease Ontology 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.

Synonyms: autosomal dominant benign erythrocytosis, ECYT1, primary familial and congenital polycythemia

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: jak2, sh2b3, epor

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007572 - primary familial polycythemia due to EPO receptor mutation

MONDO:0007572 - primary familial polycythemia due to EPO receptor mutation

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), primary polycythemia (is_a)