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Neural Netw. 2003 Nov;16(9):1277-92.

Towards a formalization of disease-specific ontologies for neuroinformatics.

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San Diego Supercomputer Center, University of California San Diego, 9500 Gilman Drive, La Jolla, CA 92093-0505, USA.


We present issues arising when trying to formalize disease maps, i.e. ontologies to represent the terminological relationships among concepts necessary to construct a knowledge-base of neurological disorders. These disease maps are being created in the context of a large-scale data mediation system being created for the Biomedical Informatics Research Network (BIRN). The BIRN is a multi-university consortium collaborating to establish a large-scale data and computational grid around neuroimaging data, collected across multiple scales. Test bed projects within BIRN involve both animal and human studies of Alzheimer's disease, Parkinson's disease and schizophrenia. Incorporating both the static 'terminological' relationships and dynamic processes, disease maps are being created to encapsulate a comprehensive theory of a disease. Terms within the disease map can also be connected to the relevant terms within other ontologies (e.g. the Unified Medical Language System), in order to allow the disease map management system to derive relationships between a larger set of terms than what is contained within the disease map itself. In this paper, we use the basic structure of a disease map we are developing for Parkinson's disease to illustrate our initial formalization for disease maps.

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