Erythrocytosis, familial, 3

Definition

Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene.

Also known as EGLN1 familial polycythemia, erythrocytosis, familial, 3, erythrocytosis, familial, type 3, familial polycythemia caused by mutation in EGLN1 — per MONDO

Also identified as

• DOID 0080338 per MONDO
• MESH C565221 per MONDO
• OMIM 609820 per MONDO
• UMLS C1853286 per MONDO