Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bd8d444f977ded60ec6c0b61ab0baa556> ?p ?o ?g. }
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- Bd8d444f977ded60ec6c0b61ab0baa556 hasDbXref "NCIT:P378" @default.
- Bd8d444f977ded60ec6c0b61ab0baa556 type Axiom @default.
- Bd8d444f977ded60ec6c0b61ab0baa556 annotatedProperty IAO_0000115 @default.
- Bd8d444f977ded60ec6c0b61ab0baa556 annotatedSource MONDO_0017435 @default.
- Bd8d444f977ded60ec6c0b61ab0baa556 annotatedTarget "A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora." @default.