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 July 2024

Englishen_product6.xml396120.72 MB01 Jul 24diffFile
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 and a  Global Core Biodata Resource

These products are an  IRDiRC Recognized Resources