Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B15866a11cf9efcf4ec4b7b9e8c2bd06a> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B15866a11cf9efcf4ec4b7b9e8c2bd06a hasDbXref "Orphanet:137888" @default.
- B15866a11cf9efcf4ec4b7b9e8c2bd06a type Axiom @default.
- B15866a11cf9efcf4ec4b7b9e8c2bd06a annotatedProperty IAO_0000115 @default.
- B15866a11cf9efcf4ec4b7b9e8c2bd06a annotatedSource MONDO_0000107 @default.
- B15866a11cf9efcf4ec4b7b9e8c2bd06a 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.