• DocumentCode
    2477215
  • Title

    PhenOMIM: An OMIM-based secondary database purported for phenotypic comparison

  • Author

    Van Triest, Han J W ; Chen, Danqi ; Ji, Xinglai ; Qi, Shouliang ; Li-Ling, Jesse

  • Author_Institution
    Sino-Dutch Biomed. & Inf. Eng. Sch., Northeastern Univ., Shenyang, China
  • fYear
    2011
  • fDate
    Aug. 30 2011-Sept. 3 2011
  • Firstpage
    3589
  • Lastpage
    3592
  • Abstract
    Phenotypic comparison may provide crucial information for obtaining insights into molecular interactions underlying various diseases. However, few attempts have been made to systematically analyze the phenotypes of hereditary disorders, mainly owing to the poor quality of text descriptions and lack of a unified system of descriptors. Here we present a secondary database, PHENOMIM, for translating the phenotypic data obtained from the Online Mendelian Inheritance in Man (OMIM) database into a structured form. Moreover, a web interface has also been developed for visualizing the data and related information from the OMIM and PhenOMIM databases. The data is freely available online for reviewing and commenting purposes and can be found at http://faculty.neu.edu.cn/bmie/han/PhenOMIM/.
  • Keywords
    diseases; genomics; medical computing; medical information systems; molecular biophysics; OMIM-based secondary database; Online Mendelian Inheritance in Man; PhenOMIM; hereditary disorders; phenotypic comparison; phenotypic data; web interface; Bioinformatics; Databases; Diseases; Genetics; Humans; Ontologies; Vocabulary; Databases, Genetic; Humans; Phenotype;
  • fLanguage
    English
  • Publisher
    ieee
  • Conference_Titel
    Engineering in Medicine and Biology Society, EMBC, 2011 Annual International Conference of the IEEE
  • Conference_Location
    Boston, MA
  • ISSN
    1557-170X
  • Print_ISBN
    978-1-4244-4121-1
  • Electronic_ISBN
    1557-170X
  • Type

    conf

  • DOI
    10.1109/IEMBS.2011.6090600
  • Filename
    6090600