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- Bd2a2fc7cb4095c1c49aba0fc4a9d90d5 NCIT_P378 "ACC/AHA" @default.
- Bd2a2fc7cb4095c1c49aba0fc4a9d90d5 type Axiom @default.
- Bd2a2fc7cb4095c1c49aba0fc4a9d90d5 annotatedProperty NCIT_P325 @default.
- Bd2a2fc7cb4095c1c49aba0fc4a9d90d5 annotatedSource NCIT_C75006 @default.
- Bd2a2fc7cb4095c1c49aba0fc4a9d90d5 annotatedTarget "A genetic syndrome characterized by a rare autosomal dominant syndrome caused by mutations in the TGFBR1 or TGFBR2 genes. It is characterized by aortic dilation and dissection, vascular tortuosity, hypertelorism, bifid uvula, scoliosis, and pectus deformities." @default.