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Welcome to Orphadata

Free datasets Powered by

These data sets are a partial extraction of the Orphanet data base, freely accessible at www.orpha.net (for consultation purposes only).
The data sets are available in nine languages: English, French, German, Italian, Portuguese, Spanish, Dutch, Polish and Czech.
A description of these datasets with annotated samples is available.

Nomenclature and classification of rare diseases

Genes associated with rare diseases

Clinical signs and symptoms in rare diseases

Epidemiological data

Rare diseases and functional consequences

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  

Orphadata Ontologies
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updated twice a year

An ontology is a structured vocabulary that describes concepts within the same domain, capturing relationships between these concepts.
Documents describing ORDO and HOOM are available for consultation.


The Orphanet Rare Disease Ontology (ORDO) was jointly developed by Orphanet and the European Bioinformatics Institute (EMBL-EBI) to provide a structured vocabulary for rare diseases, capturing relationships between diseases, genes and other relevant features, forming a useful resource for the computational analysis of rare diseases.

Sparql endpoint

Our freely available data sets can be queried using this SPARQL endpoint.


The HPO – ORDO Ontological Module (HOOM) qualifies the annotations between a clinical entity (from ORDO) and phenotypic abnormalities from HPO (Human Phenotype Ontology) according to frequency and by integrating the notion of diagnostic criterion.


  • Orphadata

    Orphadata provides the scientific community with comprehensive, quality data sets related to rare diseases and orphan drugs from the Orphanet knowledge base, in reusable formats.

  • Orphadata Ontologies

    Orphanet maintains the Orphanet Rare Disease Ontology (ORDO), a structured, machine computable vocabulary for rare diseases derived from the Orphanet knowledge base. HOOM, the HPO-ORDO Ontological Module qualifies annotations between clinical entities (ORDO) and phenotypic abnormalities (HPO).

  • Sparql endpoint

    Currently, we are working to provide a SPARQL endpoint, based on the Blazegraph technology and allowing users to query our freely data sets.

  • Orphanet

    Orphanet is the international reference knowledge base for rare diseases and orphan drugs. Orphanet provides freely-accessible information on rare diseases with the aim of helping improve the diagnosis, care and treatment of patients with rare diseases.

Orphadata Team

Marc Hanauer

Deputy Director & Chief Technology Officer

Charlotte Rodwell

Partnerships, Business Development & Strategic Communications Officer

David Lagorce

Lead Technology Officer

The Orphadata team is based at the Orphanet coordination offices in Paris (Inserm US14). We are ready to answer any questions you may have about accessing and using Orphadata.

You can also consult the Orphadata product catalogue to learn more about the data we offer.