Erythrocytosis, familial, 4

Definition

Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene.

Also known as EPAS1 familial polycythemia, erythrocytosis, familial, 4, erythrocytosis, familial, type 4, familial polycythemia caused by mutation in EPAS1 — per MONDO

Also identified as

• DOID 0080339 per MONDO
• MESH C567086 per MONDO
• OMIM 611783 per MONDO
• UMLS C2673187 per MONDO