ragopathy
MONDO:0976294Mondo
Findings
No curated finding names ragopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome caused by a variation in heterodimeric Ras-related small GTP-binding proteins (Rag-GTPases), which bind mTORC1 in an amino acid-dependent manner and serve as crucial regulators of its kinase activity towards various substrates.
Definition from the Mondo Disease Ontology (MONDO:0976294), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of