Orphanet is a reference portal for information and documentation on rare diseases.
Orphanet was originally established in 1997 by the French Ministry of Health and the French National Institute of Health and Medical Research (Institut National de la Santé et de la Recherche Médicale, INSERM) as a pilot project. Today, it is a broad partnership of public and private institutions1 including short-term funding from the European Commission.
Orphanet is run by a consortium of European partners. The coordination team, located at the same Rare Disease Platform as EURORDIS – European Rare Diseases Organisation in Paris, is in charge of the infrastructure and produces content for the free access portal including:
• Inventory of over 6,000 RD cross-referenced with other nomenclature systems
• Online encyclopedia for over 3,000 diseases
• Hierarchical disease classification system (according to literature or established in-house)
• Unique and stable Orpha number, to code each disease in the database
• Search facility by clinical signs and symptoms
• Emergency and clinical guidelines for RD.
Currently available in six languages (English, French, German, Italian, Portuguese and Spanish), the portal will continually be translated into additional languages including Dutch, Finnish, Polish and Russian in the near future.
Since 2011, Orphanet has become global, with the arrival of Canada and Australia. Negotiations are underway with
Argentina, Brazil, Chile, China, Japan and Russia. Currently, nearly 40 countries take part in the consortium.
Eurordis writes more about orpha.net