Semantic Web for Effective Healthcare Systems

12 Rare Disease Diagnosis as Information Retrieval Task

Jaya Lakkakula, Rutuja Phate, Alfiya Korbu and Sagar Barage*

Amity Institute of Biotechnology, Amity University, Mumbai, Maharashtra, India

Abstract

Rare diseases are defined as a condition which affects a small percentage of the population. It is also known as orphan diseases due to lack of attention, support, and resources available from the government as well as the private sector to develop therapeutics. The purpose of this chapter is to provide information on rare diseases. It explores the relationship between rare diseases, diagnosis, and information retrieval. In particular, it illustrates the history, characteristics, types, and classification along with databases of rare disease information. We also explore challenges faced by researchers in rare disease information retrieval and how they can resolve by optimizing search query. Specifically, the section with rare disease information database and information retrieval through Google/semantic web search gives a wealth of useful information to clinicians and medical practitioners for rare disease diagnosis. Moreover, a rare disease research institute is useful to a young researcher for career development. Finally, the information on the rare disease is available under a single umbrella useful for academicians, researchers, and medical practitioners.

Keywords: Rare disease, rare disease database, rare disease diagnosis, information retrieval

12.1 Introduction