Orphanet rare diseases are annotated with Human Phenotype Ontology (HPO) terms, a standardised and controlled terminology covering phenotypic abnormalities in human diseases. XML files are available in English, French, Spanish, Dutch, Portuguese, German and Italian (for another language, contact us ).

Data are also available through  APIs.

Orphanet Knowledge base release of June 2022

Englishen_product4.xml424543.88 MB14 Jun 22diffFile
Dutchnl_product4.xml424543.93 MB14 Jun 22diffFile
Frenchfr_product4.xml424543.88 MB14 Jun 22diffFile
Germande_product4.xml424543.84 MB14 Jun 22diffFile
Italianit_product4.xml424544.01 MB14 Jun 22diffFile
Spanishes_product4.xml424543.94 MB14 Jun 22diffFile
Portuguesept_product4.xml424543.92 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.