Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bee43ff1b51bc4924383735f2eed2a378> ?p ?o ?g. }
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- Bee43ff1b51bc4924383735f2eed2a378 hasDbXref "Orphanet:420179" @default.
- Bee43ff1b51bc4924383735f2eed2a378 type Axiom @default.
- Bee43ff1b51bc4924383735f2eed2a378 annotatedProperty IAO_0000115 @default.
- Bee43ff1b51bc4924383735f2eed2a378 annotatedSource MONDO_0013885 @default.
- Bee43ff1b51bc4924383735f2eed2a378 annotatedTarget "A rare multisystemic genetic disorder characterized by a characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness." @default.