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 December 2024
| Language | File | Number | Size | Date | DiffFile |
|---|---|---|---|---|---|
| English | en_product6.xml | 3991 | 20.81 MB | 03 Dec 24 | diffFile |
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
