EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition

Definition

Hereditary cancer predisposition due to variation(s) in the EGLN12 gene, which confers a predisposition to erythrocytosis and pheochromocytoma/paraganglioma.

Also known as EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition — per MONDO