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- B9700289a05a3f8d7dab302283859cb2d hasDbXref "Orphanet:364577" @default.
- B9700289a05a3f8d7dab302283859cb2d type Axiom @default.
- B9700289a05a3f8d7dab302283859cb2d annotatedProperty IAO_0000115 @default.
- B9700289a05a3f8d7dab302283859cb2d annotatedSource MONDO_0012095 @default.
- B9700289a05a3f8d7dab302283859cb2d annotatedTarget "Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness." @default.