Orphanet

Web Name: Orphanet

WebSite: http://www.orpha.net

ID:172741

Keywords:

Orphanet,Orphanet,raredisease,rarediseases,orphandrug,orphandrugs,geneticdisease

Description:

The portal for rare diseases and orphan drugs"Rare diseases are rare, but rare disease patients are numerous" What is Orphanet ? Orphanet is a unique resource, gathering and improving knowledge on rare diseases so as to improve the diagnosis, care and treatment of patients with rare diseases. Orphanet aims to provide high-quality information on rare diseases, and ensure equal access to knowledge for all stakeholders. Orphanet also maintains the Orphanet rare disease nomenclature (ORPHAcode), essential in improving the visibility of rare diseases in health and research information systems.Orphanet was established in France by the INSERM (French National Institute for Health and Medical Research) in 1997.This initiative became a European endeavour from 2000, supported by grants from the European Commission: Orphanet has gradually grown to a Consortium of 40 countries, within Europe and across the globe. Learn moreOrphanet national websites OrphaNews is a freely available, twice-monthly electronic newsletter for the rare disease community, presenting an overview of scientific and political news about rare diseases and orphan drugs.Read OrphaNews The Orphadata platform provides the scientific community with comprehensive, high-quality datasets related to rare diseases and orphan drugs, in a reusable and computable format.Access Orphadata The Orphanet Rare Disease Ontology (ORDO) is a structured vocabulary for rare diseases derived from the Orphanet database, capturing relationships between diseases, genes and other relevant features. ORDO provides integrated, re-usable data for computational analysis.Access ORDO Contribute to OrphanetOrphanet works with the rare disease community in order to provide its users with quality, up-to-date information on rare diseases and to improve its services. ExpertiseContribute to Orphanet scientific data and give your feedback using our interactive community-driven curation platform for experts. Contribute SponsorshipPartner with Orphanet and support us in our mission to improve knowledge and information on rare diseases.Sponsor Orphanet produces a series of highly-downloaded reports showcasing aggregated data covering topics relevant to all rare diseases.This series includes a list of rare diseases, reports on epidemiological data, list of orphan drugs, rare disease registries in Europe, list of research infrastructures useful to rare diseases in Europe, Orphanet's annual activity report, and Orphanet's satisfaction surveys, as well as the list of experts having contributed to data in Orphanet.Consult the reports 6172Diseases 5835Genes 8238Expert centres 45734Diagnostic tests 28325Professionals104000Daily visitors Our Website does not host any form of advertising Our partnerships do not influence our editorial policy © everythingpossible / Fotolia Orphanet version 5.46.0 - Last updated: 2021-04-26

TAGS:Orphanet Orphanet raredisease rarediseases orphandrug orphandrugs geneticdisease

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The portal for rare diseases and orphan drugs

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Orphanet Journal of Rare Disease

  The official journal of Orphanet, the portal for rare diseases and orphan drugs. As a result of the significant disruption that is being caused by the

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