Polycythemia, primary familial and congenital [Supplementary Concept]
A hereditary form of polycythemia (increased red blood cell mass) that is characterized by hypersensitivity of erythroid cells to ERYTHROPOIETIN. It is caused by mutations in the ERYTHROPOIETIN RECEPTOR (EPOR) gene. OMIM: 133100
Date introduced: August 25, 2010
MeSH Unique ID: C536842
Heading Mapped to:
Entry Terms:
- Familial erythrocytosis, 1
- Erythrocytosis familial, 1
- Erythrocytosis autosomal dominant benign
- Erythrocytosis, Familial, 1
- Erythrocytosis, Autosomal Dominant Benign
- Familial Erythrocytosis
- Benign Familial Polycythemia
- Congenital Erythrocytosis
- Familial Polycythemia
- Hereditary Erythrocytosis
- ECYT1 familial erythrocytosis-1
- Primary Familial Polycythemia