Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B51b17e0fd29ce712568eb7fbc868f9cd> ?p ?o ?g. }
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- B51b17e0fd29ce712568eb7fbc868f9cd hasDbXref "Orphanet:35664" @default.
- B51b17e0fd29ce712568eb7fbc868f9cd type Axiom @default.
- B51b17e0fd29ce712568eb7fbc868f9cd annotatedProperty IAO_0000115 @default.
- B51b17e0fd29ce712568eb7fbc868f9cd annotatedSource MONDO_0009053 @default.
- B51b17e0fd29ce712568eb7fbc868f9cd annotatedTarget "ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity." @default.