Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B00fca56fd23f0ed496b1e6aa8293e9ae> ?p ?o ?g. }
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- B00fca56fd23f0ed496b1e6aa8293e9ae hasDbXref "Orphanet:56305" @default.
- B00fca56fd23f0ed496b1e6aa8293e9ae hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- B00fca56fd23f0ed496b1e6aa8293e9ae type Axiom @default.
- B00fca56fd23f0ed496b1e6aa8293e9ae annotatedProperty IAO_0000115 @default.
- B00fca56fd23f0ed496b1e6aa8293e9ae annotatedSource MONDO_0007168 @default.
- B00fca56fd23f0ed496b1e6aa8293e9ae annotatedTarget "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." @default.