MONDO_0007572 (primary familial polycythemia due to EPO receptor mutation) can be described as follows. Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels. Also known as: EPOR familial polycythemia, PFCP, congenital erythrocytosis due to erythropoietin receptor mutation, congenital polycythemia due to erythropoietin receptor mutation, erythrocytosis, familial, 1, erythrocytosis, familial, type 1, erythrocytosis, somatic, familial erythrocytosis.