Distribution of immunodeficiency fact files with XML--from Web to WAP

BMC Med Inform Decis Mak. 2005 Jun 26;5:21. doi: 10.1186/1472-6947-5-21.


Background: Although biomedical information is growing rapidly, it is difficult to find and retrieve validated data especially for rare hereditary diseases. There is an increased need for services capable of integrating and validating information as well as proving it in a logically organized structure. A XML-based language enables creation of open source databases for storage, maintenance and delivery for different platforms.

Methods: Here we present a new data model called fact file and an XML-based specification Inherited Disease Markup Language (IDML), that were developed to facilitate disease information integration, storage and exchange. The data model was applied to primary immunodeficiencies, but it can be used for any hereditary disease. Fact files integrate biomedical, genetic and clinical information related to hereditary diseases.

Results: IDML and fact files were used to build a comprehensive Web and WAP accessible knowledge base ImmunoDeficiency Resource (IDR) available at http://bioinf.uta.fi/idr/. A fact file is a user oriented user interface, which serves as a starting point to explore information on hereditary diseases.

Conclusion: The IDML enables the seamless integration and presentation of genetic and disease information resources in the Internet. IDML can be used to build information services for all kinds of inherited diseases. The open source specification and related programs are available at http://bioinf.uta.fi/idml/.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Database Management Systems*
  • Databases, Genetic*
  • Genetic Diseases, Inborn*
  • Humans
  • Immunologic Deficiency Syndromes*
  • Internet*
  • Metabolism, Inborn Errors
  • Programming Languages
  • Systems Integration
  • User-Computer Interface