Thoralf Töpel, Ralf Hofestädt, Dagmar Scheible, Friedrich Trefz
{"title":"RAMEDIS:罕见代谢疾病数据库。","authors":"Thoralf Töpel, Ralf Hofestädt, Dagmar Scheible, Friedrich Trefz","doi":"10.2165/00822942-200605020-00006","DOIUrl":null,"url":null,"abstract":"<p><strong>Unlabelled: </strong>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.</p><p><strong>Availability: </strong>RAMEDIS is available from http://www.ramedis.de</p><p><strong>Contact: </strong>Thoralf Töpel (thoralf.toepel@uni-bielefeld.de).</p>","PeriodicalId":87049,"journal":{"name":"Applied bioinformatics","volume":"5 2","pages":"115-8"},"PeriodicalIF":0.0000,"publicationDate":"2006-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2165/00822942-200605020-00006","citationCount":"13","resultStr":"{\"title\":\"RAMEDIS: the rare metabolic diseases database.\",\"authors\":\"Thoralf Töpel, Ralf Hofestädt, Dagmar Scheible, Friedrich Trefz\",\"doi\":\"10.2165/00822942-200605020-00006\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Unlabelled: </strong>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.</p><p><strong>Availability: </strong>RAMEDIS is available from http://www.ramedis.de</p><p><strong>Contact: </strong>Thoralf Töpel (thoralf.toepel@uni-bielefeld.de).</p>\",\"PeriodicalId\":87049,\"journal\":{\"name\":\"Applied bioinformatics\",\"volume\":\"5 2\",\"pages\":\"115-8\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2006-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.2165/00822942-200605020-00006\",\"citationCount\":\"13\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Applied bioinformatics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2165/00822942-200605020-00006\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Applied bioinformatics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2165/00822942-200605020-00006","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Unlabelled: 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.
Availability: RAMEDIS is available from http://www.ramedis.de
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