Orphanet rare diseases are annotated with activity limitation/participation restriction (functional consequences), using the Orphanet Functioning Thesaurus, derived and adapted from the International Classification of Functioning, Disability and Health – Children and Youth (ICF-CY, WHO 2007). XML file is available in English, french, spanish, dutch, portuguese, german and italian (for other language, contact us ).
Data are also available through APIs.
Orphanet Knowledge base release of July 2024
| Language | File | Number | Size | Date | DiffFile |
|---|---|---|---|---|---|
| English | en_funct_consequences.xml | 1052 | 24.81 MB | 01 Jul 24 | diffFile |
| Czech | cs_funct_consequences.xml | 1052 | 25.63 MB | 01 Jul 24 | diffFile |
| Dutch | nl_funct_consequences.xml | 1052 | 24.73 MB | 01 Jul 24 | diffFile |
| French | fr_funct_consequences.xml | 1052 | 25.25 MB | 01 Jul 24 | diffFile |
| German | de_funct_consequences.xml | 1052 | 24.92 MB | 01 Jul 24 | diffFile |
| Italian | it_funct_consequences.xml | 1052 | 25.35 MB | 01 Jul 24 | diffFile |
| Spanish | es_funct_consequences.xml | 1052 | 25.29 MB | 01 Jul 24 | diffFile |
| Polish | pl_funct_consequences.xml | 1052 | 25.76 MB | 01 Jul 24 | diffFile |
| Portuguese | pt_funct_consequences.xml | 1052 | 25.26 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
