Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B829692a33c1d7f8f54c1714027b5c2c6> ?p ?o ?g. }
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- B829692a33c1d7f8f54c1714027b5c2c6 hasDbXref "Orphanet:1711" @default.
- B829692a33c1d7f8f54c1714027b5c2c6 type Axiom @default.
- B829692a33c1d7f8f54c1714027b5c2c6 annotatedProperty IAO_0000115 @default.
- B829692a33c1d7f8f54c1714027b5c2c6 annotatedSource MONDO_0015730 @default.
- B829692a33c1d7f8f54c1714027b5c2c6 annotatedTarget "Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported." @default.