Realization of International Sharing of Nanbyo Diseases Information through International Cooperation

Since nanbyo diseases (“incurable/intractable diseases” in dare translation) are a unique classification of diseases in Japan, integrating and sharing information internationally has been challenging. To address it, we have developed the first Japanese vocabulary of nanbyo diseases called NANDO (Nanbyo Disease Ontology) and have built a portal site of NanbyoData which integrates information on nanbyo diseases within Japan using NANDO.
Recently, the Mondo Disease Ontology (Mondo), a widely used disease vocabulary in numerous international databases and systems, has adopted links to NANDO (starting from releases/2024-07-02). This allows international clinicians and researchers using Mondo to access NanbyoData. This collaboration between Mondo and NANDO is expected to promote the international sharing of information on Japan’s nanbyo diseases.

  • Example of a NANDO link on a Mondo entry (A link at the bottom right of the page leads to an equivalent NanbyoData entry): Huntington disease

  • About Nanbyo Disease Ontology NANDO NANDO is a vocabulary collection that systematically and comprehensively organizes the designated nanbyo diseases and the pediatric chronic diseases (338 and 814 diseases, respectively, as of June 2024), including their subtypes. Each entry in NANDO is linked to Mondo, a widely adopted disease vocabulary in many international databases and systems, enabling Japanese clinicians and researchers to obtain nanbyo disease-related information from major international disease databases such as OMIM and Orphanet and allowing Mondo users to access Japanese nanbyo disease information via NANDO.

  • About Nanbyo Disease Portal Site NanbyoData NanbyoData integrates information related to each disease included in NANDO using MetaStanza developed by DBCLS and an integrated database organized using RDF (Resource Description Framework) technology by DBCLS. This enables users to view information automatically aggregated from various databases in Japan and overseas, including previously inaccessible genetic and phenotypic information related to nanbyo diseases.