Disease association ontology term - MONDO:0008192 - pheochromocytoma/paraganglioma syndrome 1
Term summary
- ID
- MONDO:0008192
- Name
- pheochromocytoma/paraganglioma syndrome 1
- Ontology or CV name
- Disease association
- Definition
- An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHD gene, characterized by an increased risk of paraganglioma and pheochromocytoma, as well as an increased risk of renal cell carcinoma and gastrointestinal stromal tumors (GIST).
