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 (ORPHAcode), 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.
Orphanet national websites
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.
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.
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.
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.
Expertise
Contribute to Orphanet scientific data and give your feedback using our interactive community-driven curation platform for experts.
Contribute
Registration
Improve the visibility of your activities related to rare diseases by registering them with Orphanet.
Register your activity
Sponsorship
Partner with Orphanet and support us in our mission to improve knowledge and information on rare diseases.
SponsorOrphanet Report Series
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.
Orphanet published procedures
Events
October 2025
14-18American Society of Human Genetics 2025
Boston, United States
April 2025
10Polish Conference on Rare Diseases
Warsaw, Poland
May
24-27European Society of Human Genetics Conference 2025
Milan, Italy