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- Be892e9caa4f1279bbd2e18241f8dd157 NCIT_P378 "NICHD" @default.
- Be892e9caa4f1279bbd2e18241f8dd157 type Axiom @default.
- Be892e9caa4f1279bbd2e18241f8dd157 annotatedProperty NCIT_P325 @default.
- Be892e9caa4f1279bbd2e18241f8dd157 annotatedSource NCIT_C84652 @default.
- Be892e9caa4f1279bbd2e18241f8dd157 annotatedTarget "An autosomal dominant syndrome caused by mutations in the HRAS gene, encoding GTPase HRas, a signaling molecule involved in control of cell growth and division. The condition is characterized by coarse facial features, loose skin folds, developmental delays, hypotonia, multiple cardiac problems (structural heart anomalies, hypertrophic cardiomyopathy), short stature, hyperinsulinism, and an increased risk for development of neoplasia." @default.