Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B05e17640caef4e4a6b2d2586ec0d7626> ?p ?o ?g. }
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- B05e17640caef4e4a6b2d2586ec0d7626 hasDbXref "Orphanet:1390" @default.
- B05e17640caef4e4a6b2d2586ec0d7626 type Axiom @default.
- B05e17640caef4e4a6b2d2586ec0d7626 annotatedProperty IAO_0000115 @default.
- B05e17640caef4e4a6b2d2586ec0d7626 annotatedSource MONDO_0015326 @default.
- B05e17640caef4e4a6b2d2586ec0d7626 annotatedTarget "This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia)." @default.