Welcome to Orphadata
ACCESS TO AGGREGATED DATA FROM

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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 seven languages: English, French, German, Italian, Portuguese, Spanish and Dutch.
The nomenclature is also available in Czech and Polish.

Rare diseases

Rare diseases and genes

Rare diseases and phenotypes

Datasets available on request
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These data sets are available via signature of a Data Transfer Agreement (for academia) or via signature of a service contract (for for-profit).

Catalogue of products 2018

On request data samples

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Orphadata Ontologies
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An ontology is a structured vocabulary that describes concepts within the same domain, capturing relationships between these concepts.

ORDO

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.

HOOM

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.

About

  • 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.