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2022-05-09 23:40:20

Help Contact us ENFRESDEITPTNLPLCS Menu Rare diseasesSearchClinical Signs and SymptomsClassificationsGenesDisabilityEncyclopaedia for patientsEncyclopaedia for professionalsEmergency guidelinesOrphan drugsSearchExpert centres and NetworksExpert centresNetworks of expert centreEuropean reference networks Diagnostic testsLaboratoriesDiagnostic testsResearch and trialsResearch projectsClinical trialsRegistries & biobanksPlatformsPatient organisationsPatient organisationFederations/Alliances Helplines for personal queriesProfessionals and institutionsInstitutionsProfessionalsNetwork of expertsGet in touchOther informationQuality chartersAbout orphan drugsAbout OrphanetAbout rare diseasesOrphanet Reports seriesOrphanet TutorialsOrphanet procedures Orphanet produces its data according to published proceduresRead Rare Diseases - European CommissionRD-ActionEuropean Medicines AgencyIRDiRCOffice of rare diseases research (US)EC Expert Group on Rare Diseases (EU)European Reference NetworksOJRD Orphanet Report Series The portal for rare diseases and orphan drugs"Rare diseases are rare, but rare disease patients are numerous" Access our Services Inventory, classification and encyclopaedia of rare diseases, with genes involved Inventory of orphan drugs Directory of patient organisations Directory of professionals and institutions Directory of expert centres Directory of medical laboratories providing diagnostic tests Directory of ongoing research projects, clinical trials, registries and biobanks Collection of thematic reports: Orphanet Reports Series x Share Share 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. Watch our videosLearn 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 RegistrationImprove the visibility of your activities related to rare diseases by registering them with Orphanet.Register your activity SponsorshipPartner with Orphanet and support us in our mission to improve knowledge and information on rare diseases.Sponsor Orphanet Report Series 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 Orphanet published proceduresOrphanet produces its data according to published procedures Other rare diseases websitesRare Diseases - European CommissionRD-ActionEuropean Medicines AgencyIRDiRCOffice of rare diseases research (US)European Reference NetworksOJRD Events EJP-Rare Diseases Events June 11-14 ESHG 2022 Vienna, Austria June 27-01 European Conference on Rare Diseases Online See all Orphanet in numbers 6172Diseases 5835Genes 8238Expert centres 45734Diagnostic tests 28325Professionals104000Daily visitors With the support of Our Website does not host any form of advertising Our partnerships do not influence our editorial policy © everythingpossible / Fotolia © Orphanet version 5.52.0 - Last updated: 2022-05-09 Sitemap Legal notice CookiesCareer opportunitiesGDPR