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Orphanet is an organisation and knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks.[1]
Orphanet was founded in France in 1997 by Inserm, the French National Institute of Health and Medical Research. The website is managed by a network of academic establishments from 40 countries, led by Inserm, and is a European Union Health Programme Joint Action.[2][3] It contains content for both physicians and patients. Its administrative office is in Paris and its official medical journal is the Orphanet Journal of Rare Diseases published on its behalf by BioMed Central. As of October 2020[update], the site provides information on over 6,100 rare diseases and 5,400 genes.[3]
- ^ "The portal for rare diseases and orphan drugs". Orphanet. Retrieved 15 April 2021.
- ^ Rath, Ana; Olry, Annie; Dhombres, Ferdinand; Brandt, Maja Miličić; Urbero, Bruno; Ayme, Segolene (May 2012). "Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users". Human Mutation. 33 (5): 803–808. doi:10.1002/humu.22078. PMID 22422702.
- ^ a b "Orphanet: About Orphanet". www.orpha.net. Retrieved 2020-10-16.