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- B64c5e696786a12889f755e12d25b550e hasDbXref "Orphanet:3163" @default.
- B64c5e696786a12889f755e12d25b550e type Axiom @default.
- B64c5e696786a12889f755e12d25b550e annotatedProperty IAO_0000115 @default.
- B64c5e696786a12889f755e12d25b550e annotatedSource MONDO_0010026 @default.
- B64c5e696786a12889f755e12d25b550e annotatedTarget "SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease." @default.