Orphanet Rare Disease Ontology (ORDO)

The Orphanet Rare Disease ontology (ORDO) is 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 derived from the Orphanet database ( ) , 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, epiemological data) and connections with other terminologies (MeSH, UMLS, MedDRA),databases (OMIM, UniProtKB, HGNC, ensembl, Reactome, IUPHAR, Geantlas) or classifications (ICD10).

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 monthly and follows the OBO guidelines on deprecation of terms. It constitutes the official ontology of rare diseases produced and maintained by Orphanet (INSERM, US14).
CONTACT Subscribe to the ORDO list : ordo-users.orphanet

Orphanet Rare Disease Ontology (ORDO) V2
Site links type
Bioportal ORDO V2.4 OWL format
Orphadata ORDO V2.4 OWL direct download ORDO v2.4
Orphadata ORDO V2.4 release notes TXT format

Orphanet Rare Disease Ontology (ORDO) Previous version V1&V2
Site links type
Orphadata ORDO V2.3 OWL direct download ORDO v2.3
Orphadata ORDO V2.3 release notes TXT format
Orphadata ORDO V2.2 OWL direct download ORDO v2.2
Orphadata ORDO V2.2 release notes TXT format
Orphadata ORDO V2.1 OWL direct download ORDO v2.1
Orphadata ORDO V2.1 release notes TXT format
Orphadata ORDO V2.0 OWL direct download ORDO v2.0
Orphadata ORDO V2.0 release notes TXT format
Orphadata ORDO V1.5 OWL direct download ORDO v1.5
Orphadata ORDO V1.5 release notes TXT format
Orphadata ORDO V1.4 OWL direct download ORDO v1.4
Orphadata ORDO V1.4 release notes TXT format
Orphadata ORDO V1.3 OWL direct download ORDO v1.3
Orphadata ORDO V1.3 release notes TXT format
Orphadata ORDO V1.2 OWL direct download ORDO v1.2
Orphadata ORDO V1.2 release notes TXT format
Orphadata ORDO V1.1 OWL direct download ORDO v1.1 with release notes
Orphadata ORDO V1.0 OWL direct download ORDO v1.0

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