Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B4dbde022f291bc3d903eecf1c8563bc2> ?p ?o ?g. }
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- B4dbde022f291bc3d903eecf1c8563bc2 hasDbXref "Orphanet:508410" @default.
- B4dbde022f291bc3d903eecf1c8563bc2 type Axiom @default.
- B4dbde022f291bc3d903eecf1c8563bc2 annotatedProperty IAO_0000115 @default.
- B4dbde022f291bc3d903eecf1c8563bc2 annotatedSource MONDO_0034819 @default.
- B4dbde022f291bc3d903eecf1c8563bc2 annotatedTarget "OBSOLETE. A rare familial intestinal malformation characterized by failure of the rotation of the developing gastrointestinal tract around the superior mesenteric artery during embryonic development, resulting in a spectrum of abnormalities of intestinal position and fixation. Patients most typically present in the neonatal period with midgut volvulus, which can lead to short bowel syndrome or even death. Signs and symptoms include bilious vomiting, feeding intolerance, failure to thrive, constipation, bloody stools, or intermittent apnea. The condition may also manifest later in life with complications like kinking or hernias and a broad range of intestinal symptoms. It can be an isolated finding or occur in association with other anomalies." @default.