Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B1bcdbfc9c76744f1fc08d4b97aa1b331> ?p ?o ?g. }
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- B1bcdbfc9c76744f1fc08d4b97aa1b331 hasDbXref "Orphanet:2050" @default.
- B1bcdbfc9c76744f1fc08d4b97aa1b331 hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- B1bcdbfc9c76744f1fc08d4b97aa1b331 type Axiom @default.
- B1bcdbfc9c76744f1fc08d4b97aa1b331 annotatedProperty IAO_0000115 @default.
- B1bcdbfc9c76744f1fc08d4b97aa1b331 annotatedSource MONDO_0016085 @default.
- B1bcdbfc9c76744f1fc08d4b97aa1b331 annotatedTarget "An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia)." @default.