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Information technology is increasingly present in medicine, and is emerging as a crucial tool both in clinical monitoring and knowledge dissemination, increasing the success rate in diagnosis and subsequently during treatment. A particular sub-group of diseases are designated rare or orphan due to the small number of people suffering from these illnesses. They are sometimes disabling, reducing the quality of life of patients and affect all relatives around them. The aim of this project was to build a Web information system to support practice and clinical research in rare diseases, and to facilitate the collection of scientific information, diagnosis, treatment and patient support. Through this system, one can optimize specialized medical resources, computing resources and data quality, so that the information is available for consulting and supporting future decisions. This developed system also allows health professionals to share information that will be important for enhancing the quality and technological advancement in this area of

GATHERING AND MANAGING GENOTYPE AND PHENOTYPE INFORMATION ABOUT RARE DISEASES PATIENTS