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OARD: Open annotations for rare diseases and their phenotypes based on real-world data |
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| Affiliation: | 1. Department of Biomedical Informatics, Columbia University, New York, NY 10032, USA;2. Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;3. Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA;4. Division of Nephrology, Department of Medicine, Columbia University, New York, NY 10032, USA |
| Abstract: | |
| Keywords: | rare disease human phenotype ontology electronic health records open data sharing knowledge graph natural language processing phenotype association |
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