From symptoms to diseases – creating the missing link

Abstract

A wealth of biomedical datasets is meanwhile published as Linked Open Data. Each of these datasets has a particular focus, such as providing information on diseases or symptoms of a certain kind. Hence, a comprehensive view can only be provided by integrating information from various datasets. Although, links between diseases and symptoms can be found, these links are far too sparse to enable practical applications such as a disease-centric access to clinical reports that are annotated with symptom information. For this purpose, we build a model of disease-symptom relations. Utilizing existing ontology mappings, we propagate semantic type information for disease and symptom across ontologies. Then entities of the same semantic type from different ontologies are clustered and object properties between entities are mapped to cluster-level relations. The effectiveness of our approach is demonstrated by integrating all available disease-symptom relations from different biomedical ontologies resulting in a significantly increased linkage between datasets.