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- B624540dc297e70e3a42d49ec5fc5b55c NCIT_P378 "ACC/AHA" @default.
- B624540dc297e70e3a42d49ec5fc5b55c type Axiom @default.
- B624540dc297e70e3a42d49ec5fc5b55c annotatedProperty NCIT_P325 @default.
- B624540dc297e70e3a42d49ec5fc5b55c annotatedSource NCIT_C34807 @default.
- B624540dc297e70e3a42d49ec5fc5b55c 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. Diagnosis is made based on the 2010 Revised Ghent Nosology for Marfan syndrome." @default.