Orphanet

Orphanet is the reference portal for information on rare diseases and orphan drugs for all audiences. Orphanet’s aim is to help improve the diagnosis, care and treatment of patients with rare diseases.

Orphanet offers a range of freely accessible services:

An inventory of rare diseases and a classification of diseases using existing published expert classifications.
An encyclopaedia of rare diseases in English and French that is currently being translated into the other languages.
An inventory of orphan drugs at all stages of development, from EMA (European Medicines Agency) orphan designation to European market authorisation.
A directory of specialised services in the field of rare diseases that provides information on specialised clinics, medical laboratories, ongoing research projects, clinical trials, registries, networks, technological platforms and patient organisations, in each of the countries in Orphanet’s network.
An assistance-to-diagnosis tool that allows users to search by signs and symptoms.
An encyclopaedia of recommendations and guidelines for emergency medical care and anesthesia.
A bimonthly newsletter, OrphaNews, which gives an overview of scientific and political current affairs in the field of rare diseases and orphan drugs, in English and French.
A collection of thematic reports, the Orphanet Reports Series, focusing on overarching themes, directly downloadable from the website.

To get more information on Orphanet, please go to the Orphanet portal for rare diseases and orphan drugs.