Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bef3fde5394f823a1372dd0f54c5a95e7> ?p ?o ?g. }
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- Bef3fde5394f823a1372dd0f54c5a95e7 hasDbXref "Orphanet:1791" @default.
- Bef3fde5394f823a1372dd0f54c5a95e7 type Axiom @default.
- Bef3fde5394f823a1372dd0f54c5a95e7 annotatedProperty IAO_0000115 @default.
- Bef3fde5394f823a1372dd0f54c5a95e7 annotatedSource MONDO_0009247 @default.
- Bef3fde5394f823a1372dd0f54c5a95e7 annotatedTarget "Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." @default.