Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bef514ce9659d5eb1fa2d96fd5e5a9953> ?p ?o ?g. }
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- Bef514ce9659d5eb1fa2d96fd5e5a9953 hasDbXref "Orphanet:3365" @default.
- Bef514ce9659d5eb1fa2d96fd5e5a9953 type Axiom @default.
- Bef514ce9659d5eb1fa2d96fd5e5a9953 annotatedProperty IAO_0000115 @default.
- Bef514ce9659d5eb1fa2d96fd5e5a9953 annotatedSource MONDO_0018064 @default.
- Bef514ce9659d5eb1fa2d96fd5e5a9953 annotatedTarget "Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait." @default.