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An application supporting diagnosis for rare genetic diseases – UR-DBMS and Syndrome Finder –

Journal of Human Genetics volume 69, pages 527–531 (2024)Cite this article

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“Syndrome Finder” is a software program that applies clinical findings from the UR-DBMS to generate diagnostic candidates in descending order of concordance. Syndrome Finder (English version) was first released in 2003 and was released annually until 2009, mainly to pediatric dysmorphologists in Japan.

However, due to the remarkable advances in clinical and molecular genetics over the past decades, new diseases and newly identified responsible genes are added almost daily, making the annual revision likely to become outdated, and there is a strong demand for up-to-date information on the website.

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  1. Emeritus Professor, University of the Ryukyus Okinawa Nanbu Ryouiku Iryou Center, 2-3-1 Yorimiya, Naha, Okinawa, 902-0064, Japan

    Kenji Naritomi

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  1. Kenji Naritomi
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Correspondence to Kenji Naritomi.

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Naritomi, K. An application supporting diagnosis for rare genetic diseases – UR-DBMS and Syndrome Finder –. J Hum Genet 69, 527–531 (2024). https://doi.org/10.1038/s10038-024-01277-y

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