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- B4e491d0ee9db0d096c13dbd17a149b23 NCIT_P378 "NCI" @default.
- B4e491d0ee9db0d096c13dbd17a149b23 type Axiom @default.
- B4e491d0ee9db0d096c13dbd17a149b23 annotatedProperty IAO_0000115 @default.
- B4e491d0ee9db0d096c13dbd17a149b23 annotatedSource NCIT_C34807 @default.
- B4e491d0ee9db0d096c13dbd17a149b23 annotatedTarget "A genetic syndrome inherited as an autosomal dominant trait. It is caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens." @default.