Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Baffa40cfd1babc1ddca161a7090578ed> ?p ?o ?g. }
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- Baffa40cfd1babc1ddca161a7090578ed hasDbXref "Orphanet:1193" @default.
- Baffa40cfd1babc1ddca161a7090578ed type Axiom @default.
- Baffa40cfd1babc1ddca161a7090578ed annotatedProperty IAO_0000115 @default.
- Baffa40cfd1babc1ddca161a7090578ed annotatedSource MONDO_0010323 @default.
- Baffa40cfd1babc1ddca161a7090578ed annotatedTarget "Atkin-Flaitz syndrome is characterized by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked." @default.