has material basis in germline mutation in EPOR familial polycythemia primary familial polycythemia due to EPO receptor mutation https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/9843/familial-erythrocytosis-1 https://www.malacards.org/card/erythrocytosis_familial_1 primary congenital erythrocytosis UMLS:C4551637 familial erythrocytosis MEDGEN:1641215 familial polycythemia caused by mutation in EPOR Orphanet:90042 ICD9:289.6 Editor note: check relation to familial polycythemia ECYT1 DOID:0060652 familial erythrocytosis type 1 congenital polycythemia due to erythropoietin receptor mutation erythrocytosis, familial, type 1 erythrocytosis autosomal dominant benign icd11.foundation:962836252 PFCP SCTID:17342003 erythrocytosis, somatic EPOR familial polycythemia GARD:0009843 erythrocytosis, familial, 1 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. familial erythrocytosis, 1 MONDO:0007572 OMIM:133100 congenital erythrocytosis due to erythropoietin receptor mutation primary familial and congenital polycythemia