The application of an ontology design pattern for functional abnormalities to phenotype ontologies and the extraction of an ontology of anatomical functions

Robert Hoehndorf, Axel-Cyrille Ngonga Ngomo, Janet Kelso

Research output: Chapter in Book/Report/Conference proceedingConference Proceeding (Non-Journal item)

Abstract

Functions play an important role throughoutbiology. Although molecular functions are cov-ered in the Gene Ontology, there is currently nopublicly available ontology of anatomical func-tions. Ontological considerations on the natureof functional abnormalities and their represen-tation in current phenotype ontologies showthat we can automatically extract a skeletonfor such an ontology of anatomical functionsby using a combination of process, phenotypeand anatomy ontologies. We provide an onto-logical analysis of the nature of functions andfunctional abnormalities. From this analysis,we derive an approach to the automatic ex-traction of anatomical functions from existingontologies using a combination of natural lan-guage processing, graph-based analysis of theontologies and formal inferences. Alternatively,we introduce a new relation to relate materialobjects to processes that realize the functionof the object to avoid a needless duplication ofprocesses already present in the Gene Ontol-ogy in a new ontology of anatomical functions.We discuss several limitations of the currentontologies that still need to be addressed to en-sure a consistent and complete representationof anatomical functions and functional abnor-malities.
Original languageEnglish
Title of host publicationProceedings of the The 3rd International Symposium on Languages in Biology and Medicine
Publication statusPublished - 01 Oct 2009
EventSymposium for Semantic Mining in Biomedicine (SMBM 2008) - Turku, Finland
Duration: 01 Sept 200803 Sept 2008

Conference

ConferenceSymposium for Semantic Mining in Biomedicine (SMBM 2008)
Country/TerritoryFinland
CityTurku
Period01 Sept 200803 Sept 2008

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