Disease Ontology - Unifying Bioinformatics and Clinical Medicine

Patricia A. Dyck1, Rex L. Chisholm2
1p-dyck@northwestern.edu, Northwestern University; 2r-chisholm@northwestern.edu, Northwestern University

The Disease Ontology is a defined vocabulary based on subsumptive relationships in human disease. The goal behind the disease ontology is to create a comprehensive hierarchical vocabulary to represent human disease. The terms in the ontology were initially based on and are mapped to ICD9 codes in order to facilitate medical record mining. In a manner similar to the Gene Ontology process of curation and open development, the ontology will be continually extended and revised in order to broadly encompass diseases. Future plans include mapping these terms to other medical billing code systems as well as incorporating other terms needed for mining of electronic medical records. Disease terms within the ontology will be associated to gene products whose aberrant expression or allelic variation causes or contributes to disease. As these gene products additionally have Gene Ontology terms, one may conversely look at disease genes by molecular rather than anatomical groupings. The Disease Ontology is available at: http://sourceforge.net/projects/diseaseontology/.