Mondo Disease Ontology: Building a Community-based Disease Resource
Standardized computational representations of diseases are critical for advancing clinical and translational research. The existing array of terminologies and ontologies used for research and clinical data annotations vary in scope, conventions, and classification. These resources partially overlap, but the correspondence (mapping) between terms is often incomplete, unclear, or inconsistent. Creating a comprehensive reference for disease definitions, that can be used for disease data comparison and integration is, therefore, complicated.
The Mondo Disease Ontology (Mondo) is a logic-based ontology that integrates key medical and biomedical terminologies and provides precise, curated semantic mappings between them, resulting in a unified classification of diseases. Over 20,000 diseases in humans and across species are represented in Mondo, covering a wide range of diseases including cancers, infectious diseases, and Mendelian disorders. Mondo reconciles and disambiguates ambiguous mappings and classifications between disease resources. Mondo is an OBO Foundry ontology, open and freely available; it is maintained and iteratively developed by the community, with contributions from the clinical, scientific, and disease terminologies experts and our users.
Mondo is a valuable resource for disease annotations, to allow for accurate comparison and integration of disparate disease data that supports disease diagnostics and treatment.