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 Know the rare for better care

300 million people in the world live with a rare disease. Helping people to understand their disease, to find medical experts, to get better care: Orphanet is there at every step of the care pathway. How? By providing reference information and knowledge to all actors of the rare disease ecosystem. In particular, Orphanet has created and maintains the rare disease nomenclature, which serves as a common language for medical professionals, researchers and decision makers from around the world. For more information, please visit the Orphanet website.