Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bb6e4f4e7c37209bf4b6bf933be7aa68d> ?p ?o ?g. }
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- Bb6e4f4e7c37209bf4b6bf933be7aa68d hasDbXref "Orphanet:137888" @default.
- Bb6e4f4e7c37209bf4b6bf933be7aa68d type Axiom @default.
- Bb6e4f4e7c37209bf4b6bf933be7aa68d annotatedProperty IAO_0000115 @default.
- Bb6e4f4e7c37209bf4b6bf933be7aa68d annotatedSource MONDO_0000107 @default.
- Bb6e4f4e7c37209bf4b6bf933be7aa68d annotatedTarget "Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress." @default.