Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bfd88ce1240d233babbdb5700a5e68fd5> ?p ?o ?g. }
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- Bfd88ce1240d233babbdb5700a5e68fd5 hasDbXref "Orphanet:1786" @default.
- Bfd88ce1240d233babbdb5700a5e68fd5 type Axiom @default.
- Bfd88ce1240d233babbdb5700a5e68fd5 annotatedProperty IAO_0000115 @default.
- Bfd88ce1240d233babbdb5700a5e68fd5 annotatedSource MONDO_0007045 @default.
- Bfd88ce1240d233babbdb5700a5e68fd5 annotatedTarget "Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males." @default.