The Orphanet Rare Disease ontology (ORDO) was initially jointly developed by Orphanet and the EBI to provide a structured vocabulary for rare diseases capturing relationships between diseases, genes and other relevant features which will form a useful resource for the computational analysis of rare diseases. It is derived from the Orphanet database www.orpha.net , a multilingual database dedicated to rare diseases populated from literature and validated by international experts. It integrates a nosology (classification of rare diseases), relationships (gene-disease relations, epidemiological data) and connections with other terminologies (MeSH, UMLS, MedDRA), databases (OMIM, UniProtKB, HGNC, ensembl, Reactome, IUPHAR, Genatlas) or classifications (ICD-10).

The ontology will be maintained by Orphanet and further populated with new data. Orphanet classifications can be browsed in the OLS view. The Orphanet Rare Disease Ontology is updated every six months and follows the OBO guidelines on deprecation of terms.

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.

Previous versions

Previous versions are only available in English

VersionOWL FileSizeDateRelease Notes
4.0previous_versions/ordo_orphanet_4.0.owl.zip2.82 MB15 Dec 2021previous_versions/ORDO_releaseNotes4.0.txt
3.3previous_versions/ordo_orphanet_3.3.owl.zip4.93 MB15 Dec 2021previous_versions/ORDO_releaseNotes3.3.txt
3.2previous_versions/ordo_orphanet_3.2.owl.zip3.92 MB05 Jul 2021previous_versions/ORDO_releaseNotes3.2.txt
3.1previous_versions/ordo_orphanet_3.1.owl.zip3.88 MB17 Dec 2020previous_versions/ORDO_releaseNotes3.1.txt
3.0previous_versions/ordo_orphanet_3.0.owl.zip3.76 MB10 Jul 2020previous_versions/ORDO_releaseNotes3.0.txt
2.9previous_versions/ordo_orphanet_2.9.owl.zip3.33 MB07 Jul 2020previous_versions/ORDO_releaseNotes2.9.txt
2.8previous_versions/ordo_orphanet_2.8.owl.zip3.51 MB04 Dec 2019previous_versions/ORDO_releaseNotes2.8.txt
2.7previous_versions/ordo_orphanet_2.7.owl.zip3.41 MB29 Jul 2019previous_versions/ORDO_releaseNotes2.7.txt
2.6previous_versions/ordo_orphanet_2.6.owl.zip3.12 MB11 Jul 2018previous_versions/ORDO_releaseNotes2.6.txt
2.5previous_versions/ordo_orphanet_2.5.owl.zip3.95 MB24 Jan 2018previous_versions/ORDO_releaseNotes2.5.txt
2.4previous_versions/ordo_orphanet_2.4.owl.zip2.99 MB05 Jul 2017previous_versions/ORDO_releaseNotes2.4.txt
2.3previous_versions/ordo_orphanet_2.3.owl.zip2.82 MB13 Dec 2016previous_versions/ORDO_releaseNotes2.3.txt
2.2previous_versions/ordo_orphanet_2.2.owl.zip2.62 MB17 Jun 2016previous_versions/ORDO_releaseNotes2.2.txt
2.1previous_versions/ordo_orphanet_2.1.owl.zip2.15 MB22 feb 2016previous_versions/ORDO_releaseNotes2.1.txt
2.0previous_versions/ordo_orphanet_2.0.owl.zip1.82 MB09 Jan 2015previous_versions/ORDO_releaseNotes2.0.txt
1.5previous_versions/ordo_orphanet_1.5.owl.zip1.33 MB19 Sep 2014previous_versions/ORDO_releaseNotes1.5.txt
1.4previous_versions/ordo_orphanet_1.4.owl.zip1.29 MB10 Jul 2014previous_versions/ORDO_releaseNotes1.4.txt
1.3previous_versions/ordo_orphanet_1.3.owl.zip1.29 MB03 Jun 2014previous_versions/ORDO_releaseNotes1.3.txt
1.2previous_versions/ordo_orphanet_1.2.owl.zip1.31 MB06 May 2014previous_versions/ORDO_releaseNotes1.2.txt
1.1previous_versions/ordo_orphanet_1.1.owl.zip1.31 MB08 Apr 2014previous_versions/ORDO_releaseNotes1.1.txt
1.0previous_versions/ordo_orphanet_1.0.owl.zip1.29 MB31 Jan 2014previous_versions/ORDO_releaseNotes1.0.txt