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Subject Keywords: Portal for rare diseases and orphan drugs
Set: Chronic Conditions
Rare Disease
Rare Diseases
Type: Website
Region: International (other)

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 services

Orphanet offers a range of freely accessible services:

  • 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, progressively translated into the other languages of the website.
  • 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, providing information on specialised clinics, medical laboratories, ongoing research projects, clinical trials, registries, networks, technological platforms and patient organisations, in the field of rare diseases, in each of the countries in Orphanet’s network.
  • An assistance-to-diagnosis tool allowing 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.



Rights: © Orphanet
Suggested citation:

Orphanet. (2012) Orphanet [Online]. Available from: [Accessed: 25th March 2018].


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