Towards a Schistosomiasis Ontology (IDOSCHISTO) Extending the Infectious Disease Ontology

Background: Schistosomiasis, also known as bilharzia, is a waterborne infectious disease caused by helminth parasites (blood flukes) called Schistosoma and transmitted when people come into contact with freshwater infested with larval form of the parasite named cercariae that penetrate the skin. Microscopic adult worms live then in the veins draining intestines (intestinal schistosomiasis) and the urinary tract (urogenital schistosomiasis). Consequently, the eggs laid by these worms are trapped in the tissues, and this causes massive damage and severe morbidity. To prevent emergence of schistosomiasis and control its spreading, it is necessary to bring together practitioners working at different levels of granularity (i.e. biological, patient and, population levels) and to consider the disease within several perspectives. Therefore, a schistosomiasis ontology is needed to support data integration, semantic interoperability, collaborative work, annotation and reasoning. Methods: Schistosomiasis ontology (IDOSCHISTO) is a modular ontology designed as an extension of the core infectious disease ontology (IDO-Core). It reuses entirely or partially several biomedical domain ontologies dealing with infectious disease issues. Results: IDOSCHISTO is structured through an abstractionlayered framework including a foundational ontology (BFO), a core ontology (IDO-Core) and a schistosomiasis specific ontology which is itself organized in three sub-modules taking into account epidemiological, clinical and biological perspectives on the disease. It contains 1067 entities including 958 concepts and 109 objects properties. 4 ontologies are entirely imported and 8 partially. Conclusion: IDOSCHISTO is intended to become a reference knowledge model in schistosomiasis domain facilitating interoperability and multidisciplinary collaborative work, and providing reasoning support for various use cases such as epidemiological monitoring, clinical diagnosis and treatment, biological annotation. Keywords—infectious disease ontologies; schistosomiasis; modular ontology; epidemiological monitoring