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What is Orphanet ?

Orphanet is a unique resource, gathering and improving knowledge on rare diseases so as to improve the diagnosis, care and treatment of patients with rare diseases. Orphanet aims to provide high-quality information on rare diseases, and ensure equal access to knowledge for all stakeholders. Orphanet also maintains the Orphanet rare disease nomenclature (ORPHAnumber), essential in improving the visibility of rare diseases in health and research information systems.

Orphanet was established in France by the INSERM (French National Institute for Health and Medical Research) in 1997.This initiative became a European endeavour from 2000, supported by grants from the European Commission: Orphanet has gradually grown to a Consortium of 40 countries, within Europe and across the globe.

Logo INSERM Logo RD Action Logo Health Program

Learn moreOrphanet national websites

Logo Orphanews

OrphaNews is a freely available, twice-monthly electronic newsletter for the rare disease community, presenting an overview of scientific and political news about rare diseases and orphan drugs.

Read OrphaNews

Logo Orphadata

The Orphadata platform provides the scientific community with comprehensive, high-quality datasets related to rare diseases and orphan drugs, in a reusable and computable format.

Access Orphadata

Logo Ordo

The Orphanet Rare Disease Ontology (ORDO) is a structured vocabulary for rare diseases derived from the Orphanet database, capturing relationships between diseases, genes and other relevant features. ORDO provides integrated, re-usable data for computational analysis.

Access ORDO

Contribute to Orphanet

Orphanet works with the rare disease community in order to provide its users with quality, up-to-date information on rare diseases and to improve its services.

Experts scientifiques

Expertise

Contribute to Orphanet scientific data and give your feedback using our interactive community-driven curation platform for experts.

Contribute

Professionnels du champs maladies rares

Registration

Improve the visibility of your activities related to rare diseases by registering them with Orphanet.

Register your activity

Sponsors

Sponsorship

Partner with Orphanet and support us in our mission to improve knowledge and information on rare diseases.

Sponsor

Orphanet Report Series

Dernier cahier d'Orphanet

Orphanet produces a series of highly-downloaded reports showcasing aggregated data covering topics relevant to all rare diseases.

This series includes a list of rare diseases, reports on epidemiological data, list of orphan drugs, rare disease registries in Europe, list of research infrastructures useful to rare diseases in Europe, Orphanet's annual activity report, and Orphanet's satisfaction surveys, as well as the list of experts having contributed to data in Orphanet.

Consult the reports

Orphanet in numbers


  • 5856
    Diseases

  • 3573
    Genes

  • 7135
    Expert centres

  • 3367
    Laboratories

  • 20739
    Professionals

  • 41644
    Daily visitors