A Census of Disease Ontologies

Abstract

For centuries, humans have sought to classify diseases based on phenotypic presentation and available treatments. Today, a wide landscape of strategies, resources, and tools exist to classify patients and diseases. Ontologies can provide a robust foundation of logic for precise stratification and classification along diverse axes such as etiology, development, treatment, and genetics. Disease and phenotype ontologies are used in four primary ways: ( a) search, retrieval, and annotation of knowledge; ( b) data integration and analysis; ( c) clinical decision support; and ( d) knowledge discovery. Computational inference can connect existing knowledge and generate new insights and hypotheses about drug targets, prognosis prediction, or diagnosis. In this review, we examine the rise of disease and phenotype ontologies and the diverse ways they are represented and applied in biomedicine.