Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B7c5001c23a69037a2ffe7e7079ab0b29> ?p ?o ?g. }
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- B7c5001c23a69037a2ffe7e7079ab0b29 hasDbXref "Orphanet:2792" @default.
- B7c5001c23a69037a2ffe7e7079ab0b29 type Axiom @default.
- B7c5001c23a69037a2ffe7e7079ab0b29 annotatedProperty IAO_0000115 @default.
- B7c5001c23a69037a2ffe7e7079ab0b29 annotatedSource MONDO_0008163 @default.
- B7c5001c23a69037a2ffe7e7079ab0b29 annotatedTarget "Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated." @default.