title: RAMEDIS: the rare metabolic diseases database.
abstract: 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.
  
  
  BACKGROUND
  RAMEDIS is available from http://www.ramedis.de
  
  
  BACKGROUND
  Thoralf Töpel (thoralf.toepel@uni-bielefeld.de).
authors.affiliation: Bioinformatics Department, Bielefeld University, Bielefeld, and Childrens Hospital of Reutlingen, Germany. thoralf.toepel@uni-bielefeld.de
authors.forename: Thoralf
authors.initials: T
authors.lastname: Töpel
authors.forename: Ralf
authors.initials: R
authors.lastname: Hofestädt
authors.forename: Dagmar
authors.initials: D
authors.lastname: Scheible
authors.forename: Friedrich
authors.initials: F
authors.lastname: Trefz
mesh_terms: D019295:Computational Biology / Q000379:methods*; D003198:Computer Simulation; D003628:Database Management Systems; D019992:Databases as Topic; D016208:Databases, Factual; D030541:Databases, Genetic; D005838:Genotype; D006801:Humans; D020407:Internet; D008659:Metabolic Diseases / Q000235:genetics* / Q000378:metabolism; D008957:Models, Genetic; D010641:Phenotype; D035583:Rare Diseases / Q000235:genetics*; D012984:Software