AUTHOR=Martone Maryann E., Maynard Sarah M., Mungall Christopher J., Lewis Suzanna E., Imam Fahim T. TITLE=A knowledge based approach to matching human neurodegenerative disease and animal models JOURNAL=Frontiers in Neuroinformatics VOLUME=7 YEAR=2013 URL=https://www.frontiersin.org/journals/neuroinformatics/articles/10.3389/fninf.2013.00007 DOI=10.3389/fninf.2013.00007 ISSN=1662-5196 ABSTRACT=
Neurodegenerative diseases present a wide and complex range of biological and clinical features. Animal models are key to translational research, yet typically only exhibit a subset of disease features rather than being precise replicas of the disease. Consequently, connecting animal to human conditions using direct data-mining strategies has proven challenging, particularly for diseases of the nervous system, with its complicated anatomy and physiology. To address this challenge we have explored the use of ontologies to create formal descriptions of structural phenotypes across scales that are machine processable and amenable to logical inference. As proof of concept, we built a Neurodegenerative Disease Phenotype Ontology (NDPO) and an associated Phenotype Knowledge Base (PKB) using an entity-quality model that incorporates descriptions for both