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- B9b2bef68559422cdf7f77b57fabec3ab NCIT_P378 "NCI" @default.
- B9b2bef68559422cdf7f77b57fabec3ab type Axiom @default.
- B9b2bef68559422cdf7f77b57fabec3ab annotatedProperty IAO_0000115 @default.
- B9b2bef68559422cdf7f77b57fabec3ab annotatedSource NCIT_C75006 @default.
- B9b2bef68559422cdf7f77b57fabec3ab annotatedTarget "A genetically heterogenous syndrome characterized by vascular abnormalities including aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries. Other findings include scoliosis, long fingers, and joint hypermobility. Patients with TGFBR1 gene mutations also exhibit hypertelorism, bifid uvula, and early fusion of the skull bones." @default.