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- Be49d8656e6c594f0762cb0c1ddc09afa NCIT_P378 "NICHD" @default.
- Be49d8656e6c594f0762cb0c1ddc09afa type Axiom @default.
- Be49d8656e6c594f0762cb0c1ddc09afa annotatedProperty NCIT_P325 @default.
- Be49d8656e6c594f0762cb0c1ddc09afa annotatedSource NCIT_C34807 @default.
- Be49d8656e6c594f0762cb0c1ddc09afa annotatedTarget "An autosomal dominant condition caused by mutation(s) in the FBN1 gene, encoding fibrillin-1. This condition is characterized by tall stature, disproportionately long limbs, arachnodactyly, and hyperextensible joints; additional features may include scoliosis, kyphosis, pectus excavatum/carinatum, mitral valve prolapse, aortic dilatation, aortic dissection, and upward subluxation of one or both ocular lens." @default.