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Toward an Ontological Treatment of Disease and Diagnosis

In Proceedings of the 2009 AMIA Summit on Translational Bioinformatics. American Medical Informatics Association (2009)

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  1. The Factory Model of Disease.Neil E. Williams - 2007 - The Monist 90 (4):555-584.
    The aim of the paper is to give an ontologically informed account of disease that can aid in the construction of disease ontologies. The paper begins by distinguishing cases of diseases from what are purely structural abnormalities, referred to as ‘disorders’. The paper then presents a causal model apt for the understanding of disease that distinguishes diseases from both their causes and their potential effects. The analysis of disease defended treats disease in terms of distortions of standard cellular network processes, (...)
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  • The OBO Foundry: Coordinated evolution of ontologies to support biomedical data integration.Barry Smith, Michael Ashburner, Cornelius Rosse, Jonathan Bard, William Bug, Werner Ceusters, Louis J. Goldberg, Karen Eilbeck, Amelia Ireland, Christopher J. Mungall, Neocles Leontis, Philippe Rocca-Serra, Alan Ruttenberg, Susanna-Assunta Sansone, Richard H. Scheuermann, Nigam Shah, Patricia L. Whetzel & Suzanna Lewis - 2007 - Nature Biotechnology 25 (11):1251-1255.
    The value of any kind of data is greatly enhanced when it exists in a form that allows it to be integrated with other data. One approach to integration is through the annotation of multiple bodies of data using common controlled vocabularies or ‘ontologies’. Unfortunately, the very success of this approach has led to a proliferation of ontologies which itself creates obstacles to integration. The Open Biomedical Ontologies (OBO) consortium has set in train a strategy to overcome this problem. Existing (...)
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  • Continua in Biological Systems.Ingvar Johansson - 2007 - The Monist 90 (4):499-522.
    We defend the fundamental ontological-pragmatic principle that where there are continua in reality science is often forced to make partly fiat terminological delimitations. In particular, this principle applies when it comes to describing biological organisms, their parts, properties, and relations. Human-made fiat delimitations are indispensable at the level of both individuals and the natural kinds which they instantiate. The kinds of pragmatically based ‘fiatness’ that we describe can create incompatibilities and lack of interoperability even between properly designed ontologies, if not (...)
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