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- Bf6c375eafb710d8f613ea1a1d2e7b30e NCIT_P378 "NICHD" @default.
- Bf6c375eafb710d8f613ea1a1d2e7b30e type Axiom @default.
- Bf6c375eafb710d8f613ea1a1d2e7b30e annotatedProperty NCIT_P325 @default.
- Bf6c375eafb710d8f613ea1a1d2e7b30e annotatedSource NCIT_C84609 @default.
- Bf6c375eafb710d8f613ea1a1d2e7b30e annotatedTarget "A condition associated with heterozygous mutation(s) in the SOX9 gene, characterized in 46,XY individuals by atypical development of the gonads ("sex reversal"), internal and external reproductive structures, with (campomelic) or without (acampomelic) skeletal dysplasia." @default.