Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B1463d820265c83722fdfc7f15c733caa> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B1463d820265c83722fdfc7f15c733caa hasDbXref "Orphanet:141000" @default.
- B1463d820265c83722fdfc7f15c733caa type Axiom @default.
- B1463d820265c83722fdfc7f15c733caa annotatedProperty IAO_0000115 @default.
- B1463d820265c83722fdfc7f15c733caa annotatedSource MONDO_0013035 @default.
- B1463d820265c83722fdfc7f15c733caa annotatedTarget "Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." @default.