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- Be3fbff4ab8f8c9795d6b4852352ab99f hasDbXref "Orphanet:1708" @default.
- Be3fbff4ab8f8c9795d6b4852352ab99f type Axiom @default.
- Be3fbff4ab8f8c9795d6b4852352ab99f annotatedProperty IAO_0000115 @default.
- Be3fbff4ab8f8c9795d6b4852352ab99f annotatedSource MONDO_0015729 @default.
- Be3fbff4ab8f8c9795d6b4852352ab99f annotatedTarget "Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay." @default.