Aims to help improve the diagnosis, care and treatment of patients with rare diseases. Orphanet is the reference portal for information on rare diseases and orphan drugs, for all audiences. Orphanet offers a range of freely accessible services like an inventory of rare diseases and a classification of diseases elaborated using existing published expert classifications, an encyclopaedia of rare diseases in English and French, an inventory of orphan drugs at all stages of development, and an assistance-to-diagnosis tool allowing users to search by signs and symptoms and many others.
Inserm, US14 - Orphanet, Paris, France; Orphanet Germany, Centre for Rare Diseases, Hannover Medical School, Hannover, Germany; Orphanet Spain, CIBERER, Valencia, Spain
Orphanet funding source(s)
This work was supported by funds from the French Directorate General for Health and from the European Commission Directorate-General for Health and Consumers (Orphanet Europe Joint Action grant #20102206 and Orphanet Operating grant #20133305-INSERM_FY2014).