Term Name: | ragopathy |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0061140] ( DOID:0061140 ) |