The rare diseases natural history dataset includes rare diseases (ORPHAcode, preferred name, classification level, and typology) with available data related to type of inheritance, interval average age of onset and/or age of death. Files are available in English, French, German, Dutch, Italian, Spanish, Portuguese, Polish and Czech.

Data are also available through  APIs.

Orphanet Knowledge base release of June 2022

XML
LanguageFileNumberSizeDateDiffFile
Englishen_product9_ages.xml66366.54 MB14 Jun 22diffFile
Czechcs_product9_ages.xml66366.89 MB14 Jun 22diffFile
Dutchnl_product9_ages.xml66366.6 MB14 Jun 22diffFile
Frenchfr_product9_ages.xml66366.61 MB14 Jun 22diffFile
Germande_product9_ages.xml66366.63 MB14 Jun 22diffFile
Italianit_product9_ages.xml66366.6 MB14 Jun 22diffFile
Spanishes_product9_ages.xml66366.62 MB14 Jun 22diffFile
Polishpl_product9_ages.xml66366.87 MB14 Jun 22diffFile
Portuguesept_product9_ages.xml66366.59 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).

Description

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.