RAMEDIS: a comprehensive information system for variations and corresponding phenotypes of rare metabolic diseases

Abstract

RAMEDIS is a manually curated resource of human variations and corresponding phenotypes for rare metabolic diseases. The system is based on separate case reports that comprehensively describe various aspects of anonymous case study, e.g. molecular genetics, symptoms, lab findings, treatments, etc. Scientists are able to make use of the database by a simple and intuitive web-based user interface with a common web browser. A registration or login is not necessary for a full reading access to the system content. Furthermore, a mutation analysis table summarizes the submitted variations per diagnosis and enables direct access to detailed information of corresponding case reports. Interested scientists may open an account to submit their case reports in order to share valuable genotype-phenotype information efficiently with the scientific community. Currently, 794 case reports have been submitted, describing 92 different genetic metabolic diseases. To enhance the comprehensive coverage of available knowledge in the field of rare metabolic diseases, all case reports are linked to integrated information from public molecular biology databases like KEGG, OMIM and ENZYME. This information upgrades the case reports by related data of the corresponding diseases as well as involved enzymes, genes and metabolic pathways. Academic users may freely use the RAMEDIS system at http://www.ramedis.de.