In order to better define rare diseases of genetic origin, Orphanet provides information on every gene related to a rare disease. XML file is available in English (for another language, contact us).

Data are also available through  APIs.

Orphanet Knowledge base release of June 2022

Englishen_product6.xml388619.3 MB14 Jun 22diffFile
Previous versions

Please consult the  Orphadata Github for previous versions (since April 2020). Historical versions (before April 2020) are available on request (please use   contact form).


Follow links below to get description (PDF) and representation of files (XSD and JPEG)

All files are available under the  Commons Attribution 4.0 International (CC BY 4.0) licence

These products have been recognised as an  Elixir Core Data Resource

These products are an  IRDiRC regognized resources.