The Rare Metabolic Diseases Database


The RAMEDIS system is a platform-independent, web-based information system for rare diseases based on individual case reports. It was developed in close cooperation with clinical partners and collects information on rare metabolic diseases in extensive detail (e.g. symptoms, laboratory findings, therapy and genetic data). This combination of clinical and genetic data enables the analysis of genotype-phenotype correlations. By using largely standardised medical terms and conditions, the contents of the database are easy to compare and analyse. In addition, a convenient graphical user interface is provided by every common web browser. RAMEDIS supports an extendable number of different genetic diseases and enables cooperative studies. Furthermore, use of RAMEDIS should lead to advances in epidemiology, integration of molecular and clinical data, and generation of rules for therapeutic intervention and identification of new diseases.

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This work was supported by the German Ministry of Education and Research in the German Human Genome Project (project ‘Modeling of gene regulatory networks for linking genotype-phenotype information’) by grants 01KW9912 and 01KW0202.

The authors have no conflicts of interest that are directly relevant to the content of this article.

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Correspondence to Dr Thoralf Töpel.

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Availability: RAMEDIS is available from http://www.ramedis.de

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Töpel, T., Hofestädt, R., Scheible, D. et al. RAMEDIS. Appl-Bioinformatics 5, 115–118 (2006). https://doi.org/10.2165/00822942-200605020-00006

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