Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bd7e07aace8480c432ed05379dad8aad0> ?p ?o ?g. }
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- Bd7e07aace8480c432ed05379dad8aad0 hasDbXref "Orphanet:783" @default.
- Bd7e07aace8480c432ed05379dad8aad0 type Axiom @default.
- Bd7e07aace8480c432ed05379dad8aad0 annotatedProperty IAO_0000115 @default.
- Bd7e07aace8480c432ed05379dad8aad0 annotatedSource MONDO_0019188 @default.
- Bd7e07aace8480c432ed05379dad8aad0 annotatedTarget "A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioral characteristics." @default.