Literature DB >> 19964203

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

Georgios V Gkoutos1, Chris Mungall, Sandra Dolken, Michael Ashburner, Suzanna Lewis, John Hancock, Paul Schofield, Sebastian Kohler, Peter N Robinson.   

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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Mesh:

Year:  2009        PMID: 19964203      PMCID: PMC3398700          DOI: 10.1109/IEMBS.2009.5333362

Source DB:  PubMed          Journal:  Conf Proc IEEE Eng Med Biol Soc        ISSN: 1557-170X


  15 in total

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  46 in total

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8.  MouseFinder: Candidate disease genes from mouse phenotype data.

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