The polyparental structure of the Orphanet classification of rare diseases implies that a disease is included in as many classification hierarchies as necessary depending on its clinical presentation and the medical specialties to which it is relevant. In order to enable the sorting out of all rare diseases by medical specialty and avoid multiple counting of multiclassified entities in statistical analysis, a linearisation process is applied in the Orphanet scientific knowledge base to attribute one medical specialty to each clinical entity.
XML file is available in English (for another language contact us ) and data are also available through APIs.
Orphanet Knowledge base release of July 2024
| Language | File | Number | Size | Date | DiffFile |
|---|---|---|---|---|---|
| English | en_product7.xml | 9612 | 11.58 MB | 01 Jul 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
