primary familial polycythemia due to EPO receptor mutation
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.
MONDO:0001115
familial polycythemia
is_a
ECYT1
related
EPOR familial polycythemia
exact
PFCP
exact
congenital erythrocytosis due to erythropoietin receptor mutation
exact
congenital polycythemia due to erythropoietin receptor mutation
exact
erythrocytosis autosomal dominant benign
related
erythrocytosis, familial, 1
exact
erythrocytosis, familial, type 1
exact
erythrocytosis, somatic
exact
familial erythrocytosis
exact
familial erythrocytosis type 1
exact
familial erythrocytosis, 1
exact
familial polycythemia caused by mutation in EPOR
exact
primary congenital erythrocytosis
exact
primary familial and congenital polycythemia
exact