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

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Current Approaches in Applied Artificial Intelligence (IEA/AIE 2015)

Part of the book series: Lecture Notes in Computer Science ((LNAI,volume 9101))

Abstract

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.

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Author information

Authors and Affiliations

  1. National Institute of Biomedical Innovation, 7-6-8 Saito-Asagi, Ibaraki-City, Osaka, 567-0085, Japan

    Maori Ito & Kenji Mizuguchi

  2. Research Institute of Info-Communication Medicine, 5-17-11-106 Honcho, Koganei city, Tokyo, 184-0004, Japan

    Shin’ichi Nakagawa

  3. National Institute of Public Health, 2-3-6 Minami, Wako-shi, Saitama, 351-0197, Japan

    Takashi Okumura

Authors
  1. Maori Ito
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  2. Shin’ichi Nakagawa
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  3. Kenji Mizuguchi
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  4. Takashi Okumura
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Corresponding author

Correspondence to Takashi Okumura .

Editor information

Editors and Affiliations

  1. Texas State University, San Marcos, Texas, USA

    Moonis Ali

  2. Dongguk University, Seoul, Korea, Republic of (South Korea)

    Young Sig Kwon

  3. Dongguk University, Seoul, Korea, Republic of (South Korea)

    Chang-Hwan Lee

  4. Dongguk University, Seoul, Korea, Republic of (South Korea)

    Juntae Kim

  5. Seoul National University, Seoul, Korea, Republic of (South Korea)

    Yongdai Kim

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© 2015 Springer International Publishing Switzerland

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Ito, M., Nakagawa, S., Mizuguchi, K., Okumura, T. (2015). Integration of Disease Entries Across OMIM, Orphanet, and a Proprietary Knowledge Base. In: Ali, M., Kwon, Y., Lee, CH., Kim, J., Kim, Y. (eds) Current Approaches in Applied Artificial Intelligence. IEA/AIE 2015. Lecture Notes in Computer Science(), vol 9101. Springer, Cham. https://doi.org/10.1007/978-3-319-19066-2_12

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  • DOI: https://doi.org/10.1007/978-3-319-19066-2_12

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-19065-5

  • Online ISBN: 978-3-319-19066-2

  • eBook Packages: Computer ScienceComputer Science (R0)

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