Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bfd2fe053020af807d3cf3a65245196f9> ?p ?o ?g. }
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- Bfd2fe053020af807d3cf3a65245196f9 NCIT_P378 "NICHD" @default.
- Bfd2fe053020af807d3cf3a65245196f9 type Axiom @default.
- Bfd2fe053020af807d3cf3a65245196f9 annotatedProperty NCIT_P325 @default.
- Bfd2fe053020af807d3cf3a65245196f9 annotatedSource NCIT_C75100 @default.
- Bfd2fe053020af807d3cf3a65245196f9 annotatedTarget "An autosomal dominant syndrome caused by mutation(s) in the CHD7 gene, encoding chromodomain-helicase-DNA-binding protein 7, and characterized by coloboma, cardiac anomalies, choanal atresia, growth and developmental delay, hypogonadotropic hypogonadism, and ear anomalies." @default.