The portal for rare diseases and orphan drugs. 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. Access our Services:

Inventory, classification and encyclopaedia of rare diseases, with genes involved
Inventory of orphan drugs
Directory of patient organisations
Directory of professionals and institutions
Directory of expert centres
Directory of medical laboratories providing diagnostic tests
Directory of ongoing research projects, clinical trials, registries and biobanks
Collection of thematic reports: Orphanet Reports Series