Abstract
This paper describes an approach to providing computer-interpretable logical definitions for the terms of the Human Phenotype Ontology (HPO) using PATO, the ontology of phenotypic qualities, to link terms of the HPO to the anatomic and other entities that are affected by abnormal phenotypic qualities. This approach will allow improved computerized reasoning as well as a facility to compare phenotypes between different species. The PATO mapping will also provide direct links from phenotypic abnormalities and underlying anatomic structures encoded using the Foundational Model of Anatomy, which will be a valuable resource for computational investigations of the links between anatomical components and concepts representing diseases with abnormal phenotypes and associated genes. ©2009 IEEE.
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CITATION STYLE
Gkoutos, G. V., Mungall, C., D̈olken, S., Ashburner, M., Lewis, S., Hancock, J., … Robinson, P. N. (2009). Entity/quality-based logical definitions for the human skeletal phenome using PATO. In Proceedings of the 31st Annual International Conference of the IEEE Engineering in Medicine and Biology Society: Engineering the Future of Biomedicine, EMBC 2009 (pp. 7069–7072). IEEE Computer Society. https://doi.org/10.1109/IEMBS.2009.5333362
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