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Linking rare and common disease vocabularies by mapping between the human phenotype ontology and phecodes
Enabling discovery across the spectrum of rare and common diseases requires the integration of biological knowledge with clinical data; however, differences in terminologies present a major barrier. For example, the Human Phenotype Ontology (HPO) is the primary vocabulary for describing features of...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976874/ https://www.ncbi.nlm.nih.gov/pubmed/36875690 http://dx.doi.org/10.1093/jamiaopen/ooad007 |