Rare diseases and alignment with
ICD-10, ICD-11, OMIM, UMLS, MONDO, MeSH, MedDRA and GARD.
XML and JSON formats are available in English, French, German, Dutch, Italian, Spanish, Portuguese, Polish, Czech, Ukrainian, Chinese and Turkish.
Data are also available through APIs.
Orphanet Knowledge base release of July 2025
| Language | File | Number | Size | Date | DiffFile |
|---|---|---|---|---|---|
| English | en_product1.xml | 11239 | 49.11 MB | 24 Jun 25 | diffFile |
| Czech | cs_product1.xml | 11239 | 42.84 MB | 24 Jun 25 | diffFile |
| Dutch | nl_product1.xml | 11239 | 50.22 MB | 24 Jun 25 | diffFile |
| French | fr_product1.xml | 11239 | 50.06 MB | 24 Jun 25 | diffFile |
| German | de_product1.xml | 11239 | 49.08 MB | 24 Jun 25 | diffFile |
| Italian | it_product1.xml | 11239 | 48.95 MB | 24 Jun 25 | diffFile |
| Spanish | es_product1.xml | 11239 | 50.85 MB | 24 Jun 25 | diffFile |
| Polish | pl_product1.xml | 11239 | 45.56 MB | 24 Jun 25 | diffFile |
| Portuguese | pt_product1.xml | 11239 | 45.17 MB | 24 Jun 25 | diffFile |
| Turkish (annual) | tr_product1.xml | 10572 | 26.68 MB | 01 Sep 21 | In progress |
| Ukrainian (annual) | uk_product1.xml | 11023 | 44.83 MB | 03 Jul 24 | In progress |
| Chinese (annual) | zh_product1.xml | 10563 | 27.65 MB | 01 Jun 20 | In progress |
(*) The Orphanet nomenclature of rare diseases has been translated by the Ministry of Health of Ukraine’s Workgroup for the Translation and Adaptation of the Orphanet Nomenclature of Rare Diseases at the National Children’s Specialized Hospital Okhmatdyt (Kyiv). The medical validators are Nataliia Gorovenko, Nataliia Olkhovych, Nataliia Samonenko.
| Language | File | Number | Size | Date |
|---|---|---|---|---|
| English | en_product1.json.tar.gz | 11239 | 2.76 MB | 24 Jun 25 |
| Czech | cs_product1.json.tar.gz | 11239 | 1.62 MB | 24 Jun 25 |
| Dutch | nl_product1.json.tar.gz | 11239 | 2.9 MB | 24 Jun 25 |
| French | fr_product1.json.tar.gz | 11239 | 2.96 MB | 24 Jun 25 |
| German | de_product1.json.tar.gz | 11239 | 2.74 MB | 24 Jun 25 |
| Italian | it_product1.json.tar.gz | 11239 | 2.6 MB | 24 Jun 25 |
| Spanish | es_product1.json.tar.gz | 11239 | 2.94 MB | 24 Jun 25 |
| Polish | pl_product1.json.tar.gz | 11239 | 2.03 MB | 24 Jun 25 |
| Portuguese | pt_product1.json.tar.gz | 11239 | 1.81 MB | 24 Jun 25 |
| Turkish (annual) | tr_product1.json.tar.gz | 10572 | 1.03 MB | 01 Sep 21 |
| Ukrainian (annual) | uk_product1.json.tar.gz | 11023 | 3.23 MB | 03 Jul 24 |
| Chinese (annual) | zh_product1.json.tar.gz | 10563 | 1.51 MB | 01 Jun 20 |
Please consult the Orphadata aggregated Github for versions since April 2020. Historical versions (before April 2020) are available on request (please use contact form).
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These products are an IRDiRC Recognized Resources
