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. 2009:2009:7069-72.
doi: 10.1109/IEMBS.2009.5333362.

Entity/quality-based logical definitions for the human skeletal phenome using PATO

Georgios V Gkoutos  1 , Chris Mungall, Sandra Dolken, Michael Ashburner, Suzanna Lewis, John Hancock, Paul Schofield, Sebastian Kohler, Peter N Robinson
Affiliations

Entity/quality-based logical definitions for the human skeletal phenome using PATO

Georgios V Gkoutos et al. Annu Int Conf IEEE Eng Med Biol Soc. 2009.

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.

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Figures

Fig. 1
Fig. 1
An excerpt of the HPO subgraph of terms used to annotate Marfan syndrome.
See this image and copyright information in PMC

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