|OBO ID: DOID:0060652|
|Term Name:||familial erythrocytosis 1||Search 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. https://www.ncbi.nlm.nih.gov/pubmed/9292543|
|Ontology:||Human Disease (DOID:0060652)|
|is a type of:||
OTHER familial erythrocytosis 1 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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