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

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

OMIM:

MIM:133100 - erythrocytosis, familial, 1; ecyt1

MIM:133100 - erythrocytosis, familial, 1; ecyt1

Other Model Organisms: AGR, 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)