Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Becaaada927cef536228b3b994b485f41> ?p ?o ?g. }
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- Becaaada927cef536228b3b994b485f41 NCIT_P378 "NCI" @default.
- Becaaada927cef536228b3b994b485f41 type Axiom @default.
- Becaaada927cef536228b3b994b485f41 annotatedProperty IAO_0000115 @default.
- Becaaada927cef536228b3b994b485f41 annotatedSource NCIT_C75006 @default.
- Becaaada927cef536228b3b994b485f41 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.