Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bb8a88b51596696696f44bca928a7359c> ?p ?o ?g. }
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- Bb8a88b51596696696f44bca928a7359c hasDbXref "Orphanet:2328" @default.
- Bb8a88b51596696696f44bca928a7359c type Axiom @default.
- Bb8a88b51596696696f44bca928a7359c annotatedProperty IAO_0000115 @default.
- Bb8a88b51596696696f44bca928a7359c annotatedSource MONDO_0009483 @default.
- Bb8a88b51596696696f44bca928a7359c annotatedTarget "Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." @default.