| Metadata | |
|---|---|
| ID | DOID:0061140 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061140 Copy |
| Name | ragopathy |
| Definition | A syndrome that has_material_basis_in mutations 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. https://www.nature.com/articles/s41467-024-50034-4 |
| Parent Relationships |
is_a syndrome |