A Biomedical Ontology for Liver Diseases using UMLS as Data Source

Abstract

The target of this research is creating a biomedical ontology for liver diseases using UMLS as data source. Due to extensive available information in the biomedical domain its unstructured format makes the access of that data to users difficult. Development in biomedical domain lies within its publications that is its literature. Ontologies help create structured knowledge base of the available information for easy access and use. In the recent years, ontology development has extended to desktops of experts from artificial intelligence. Ontologies now are common over the internet ranging from “Yahoo!” to “Amazon”. Resource description framework is developed by the WWW consortium to make the knowledge machine-readable. Protégé is tool developed by Stanford university to create and edit ontologies. It uses RDF triplets to model the schemas of an ontology by linking the concepts their properties and relations to concepts. The disease ontology is created using UMLS as data source. Existing biomedical ontologies focus either on diseases and its hierarchy or symptoms only. No existing ontology draws the link between diseases and its symptoms. The existing ontologies has structured vocabulary like SNOWMED or has a semantic network like UMLS. The ontology created in this research focuses on liver diseases with hierarchy of the diseases and its semantic network based on UMLS concepts whereas the symptoms are based on the ontology created by Institute of Genome Sciences namely, “Symptom ontology”. The relation between diseases and its respective symptoms are evaluated with the help of experts and expressed in graphical representation.