Pheochromocytoma/paraganglioma syndrome 2

Definition

An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHAF2 gene, characterized by an increased risk of paraganglioma, particularly head and neck paragangliomas.

Also known as paraganglioma caused by mutation in SDHAF2, paragangliomas 2, paragangliomas type 2, pheochromocytoma/paraganglioma syndrome 2, SDHAF2 paraganglioma, SDHAF2-related tumor predisposition — per MONDO

Also identified as

• DOID 0061217 per MONDO
• MESH C566646 per MONDO
• OMIM 601650 per MONDO
• UMLS C1866552 per MONDO