Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bcf4e9bfb83a11fb9f4c22c3a94afee8c> ?p ?o ?g. }
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- Bcf4e9bfb83a11fb9f4c22c3a94afee8c NCIT_P378 "NCI" @default.
- Bcf4e9bfb83a11fb9f4c22c3a94afee8c type Axiom @default.
- Bcf4e9bfb83a11fb9f4c22c3a94afee8c annotatedProperty IAO_0000115 @default.
- Bcf4e9bfb83a11fb9f4c22c3a94afee8c annotatedSource NCIT_C75008 @default.
- Bcf4e9bfb83a11fb9f4c22c3a94afee8c annotatedTarget "A rare autosomal dominant syndrome caused by mutations in the PAX3 gene. It is characterized by hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes." @default.