Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B53f481360272f611279c97809b0457f6> ?p ?o ?g. }
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- B53f481360272f611279c97809b0457f6 hasDbXref "Orphanet:3103" @default.
- B53f481360272f611279c97809b0457f6 type Axiom @default.
- B53f481360272f611279c97809b0457f6 annotatedProperty IAO_0000115 @default.
- B53f481360272f611279c97809b0457f6 annotatedSource MONDO_0009997 @default.
- B53f481360272f611279c97809b0457f6 annotatedTarget "Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS." @default.