Integration of Disease Entries Across OMIM, Orphanet, and a Proprietary Knowledge Base

  • Maori Ito
  • Shin’ichi Nakagawa
  • Kenji Mizuguchi
  • Takashi OkumuraEmail author
Conference paper
Part of the Lecture Notes in Computer Science book series (LNCS, volume 9101)


Integration of disease databases benefits physicians searching for disease information. However, current algorithmic matching is not sufficiently powerful to automate the integration process. This paper reports our attempt to manually integrate disease entries spread across public disease databases, Online Mendelian Inheritance in Man and Orphanet, with a proprietary disease knowledge base. During the process, we identified that relations between synonyms require special handling, and a set of resolution rules are proposed. Situations encountered throughout the integration suggested that variations in the cross-references would facilitate future integration of distinct disease databases.


Disease knowledge base Semantic integration Ontology alignment 


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Copyright information

© Springer International Publishing Switzerland 2015

Authors and Affiliations

  • Maori Ito
    • 1
  • Shin’ichi Nakagawa
    • 2
  • Kenji Mizuguchi
    • 1
  • Takashi Okumura
    • 3
    Email author
  1. 1.National Institute of Biomedical InnovationIbaraki-City, OsakaJapan
  2. 2.Research Institute of Info-Communication MedicineKoganei city, TokyoJapan
  3. 3.National Institute of Public HealthWako-shi, SaitamaJapan

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