Disease association ontology term - MONDO:0011121 - pheochromocytoma/paraganglioma syndrome 2
Term summary
- ID
- MONDO:0011121
- Name
- pheochromocytoma/paraganglioma syndrome 2
- Ontology or CV name
- Disease association
- 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.
