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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 endeavor 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.

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