Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bf733b3051907f23e4edcef852e61dce8> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- Bf733b3051907f23e4edcef852e61dce8 hasDbXref "Orphanet:313892" @default.
- Bf733b3051907f23e4edcef852e61dce8 hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- Bf733b3051907f23e4edcef852e61dce8 type Axiom @default.
- Bf733b3051907f23e4edcef852e61dce8 annotatedProperty IAO_0000115 @default.
- Bf733b3051907f23e4edcef852e61dce8 annotatedSource MONDO_0017782 @default.
- Bf733b3051907f23e4edcef852e61dce8 annotatedTarget "A rare genetic syndrome characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities)." @default.