Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bfa89ccbf9a92624b8e5cf84fb0087be8> ?p ?o ?g. }
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- Bfa89ccbf9a92624b8e5cf84fb0087be8 hasDbXref "Orphanet:325511" @default.
- Bfa89ccbf9a92624b8e5cf84fb0087be8 type Axiom @default.
- Bfa89ccbf9a92624b8e5cf84fb0087be8 annotatedProperty hasExactSynonym @default.
- Bfa89ccbf9a92624b8e5cf84fb0087be8 annotatedSource MONDO_0017971 @default.
- Bfa89ccbf9a92624b8e5cf84fb0087be8 annotatedTarget "46,XY DSD due to a cholesterol synthesis defect" @default.