Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B8e850b1927272e15e3caca38ba940ec2> ?p ?o ?g. }
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- B8e850b1927272e15e3caca38ba940ec2 hasDbXref "Orphanet:141007" @default.
- B8e850b1927272e15e3caca38ba940ec2 type Axiom @default.
- B8e850b1927272e15e3caca38ba940ec2 annotatedProperty IAO_0000115 @default.
- B8e850b1927272e15e3caca38ba940ec2 annotatedSource MONDO_0009795 @default.
- B8e850b1927272e15e3caca38ba940ec2 annotatedTarget "Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disk coloboma and retinal dysplasia with partial detachment)." @default.