Orphanet

<!DOCTYPE html> <html lang="en"> <head> <script src="https://tarteaucitron.io/load.js?domain=www.orpha.net&uuid=bf83258dd5f3bc0f8040bc1a95eedc2ec3ca1a62"></script> <meta charset="UTF-8"> <meta name="viewport" content="width=device-width, initial-scale=1"> <meta name="google-site-verification" content="9sM3zazZuWJ_PI134Dxgq_MqlUEWRYULwgLG7sAaZ4w" > <title>Orphanet</title> <link rel="shortcut icon" href="/build/images/favicon.png" type="image/png" /> <script async src="https://www.googletagmanager.com/gtag/js?id=G-VY3XS4G203"></script> <script> window.dataLayer = window.dataLayer || []; function gtag(){dataLayer.push(arguments);} gtag('js', new Date()); gtag('config', 'G-VY3XS4G203'); </script> <link rel="stylesheet" href="/build/app.c889ea47.css"> </head> <body> <header class="menu d-print-none"> <div class="fixed-top container-fluid d-flex justify-content-between p-0"> <nav> <a href="#menu" class="d-inline-block h-100"> <div class="burger-button closed h-100 py-3 px-2 d-flex 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p-0" type="button" id="languageSelector" data-bs-toggle="dropdown" aria-expanded="false"> EN </button> <ul class="dropdown-menu dropdown-menu-right" aria-labelledby="dropdown-language"> <li> <a class="dropdown-item" href="/change-locale/fr">FR</a> </li> <li> <a class="dropdown-item" href="/change-locale/es">ES</a> </li> <li> <a class="dropdown-item" href="/change-locale/de">DE</a> </li> <li> <a class="dropdown-item" href="/change-locale/it">IT</a> </li> <li> <a class="dropdown-item" href="/change-locale/pt">PT</a> </li> <li> <a class="dropdown-item" href="/change-locale/nl">NL</a> </li> <li> <a class="dropdown-item" href="/change-locale/pl">PL</a> </li> <li> <a class="dropdown-item" href="/change-locale/cs">CS</a> </li> </ul> </div> </article> </nav> </div> <nav id="menu" class="navigation close"> <ul class="d-flex flex-row flex-wrap container mainMenu"> <li class="disease col-sm-6 col-md-3 col-12"> <i class="fas fa-viruses mb-2"></i>Rare diseases <ul class="list-unstyled"> <li><i class="arrow right"></i><a href="/en/disease">Search</a></li> <li><i class="arrow right"></i><a href="/en/disease/signs">Clinical Signs and Symptoms</a></li> <li><i class="arrow right"></i><a href="/en/disease/classification">Classifications</a></li> <li><i class="arrow right"></i><a href="/en/disease/gene">Genes</a></li> <li><i class="arrow right"></i><a href="/en/disease/disability">Disability</a></li> <li><i class="arrow right"></i><a href="/en/disease/encyclopedia">Encyclopaedia</a></li> <li><i class="arrow right"></i><a href="/en/disease/emergency-guidelines">Emergency guidelines</a></li> <li><i class="arrow right"></i><a href="//nbs.orphanet.app/?lang=en">Newborn screening library</a></li> <li><i class="arrow right"></i><a href="https://orphanetguides.orphanet.app/Orphanet_rdk_en.htm">App RDK TM</a></li> </ul> </li> <li class="drug col-12 col-sm-6 col-md-3"> <i class="fa fa-pills mb-2"></i>Orphan drugs <ul class="list-unstyled"> <li><i class="arrow right"></i><a href="/en/drug">Search</a></li> </ul> </li> <li class="organisation col-12 col-sm-6 col-md-3"> <i class="fas fa-users mb-2"></i>Patient organisations <ul class="list-unstyled"> <li><i class="arrow right"></i><a href="/en/patient-organisations">Patient organisation</a></li> <li><i class="arrow right"></i><a href="/en/patient-organisations/federations-alliances">Federations/Alliances</a></li> <li><i class="arrow right"></i><a href="/en/patient-organisations/helplines">Helplines for personal queries</a></li> </ul> </li> <li class="professional col-12 col-sm-6 col-md-3"> <i class="fas fa-user-md mb-2"></i>Professionals and institution <ul class="list-unstyled"> <li><i class="arrow right"></i><a href="/en/institutions">Institutions</a></li> <li><i class="arrow right"></i><a href="/en/professional">Professionals</a></li> <li><i class="arrow right"></i><a href="/en/legal_entity">Legal entities</a></li> <li><i class="arrow right"></i><a href="/en/institutions/expert-networks">Network of experts</a></li> <li><i class="arrow right"></i><a href="/en/institutions/get-in-touch">Get in touch</a></li> </ul> </li> <li class="network col-12 col-sm-6 col-md-3"> <i class="fas fa-hospital mb-2"></i>Expert centres and Networks <ul class="list-unstyled"> <li><i class="arrow right"></i><a href="/en/expert-centres">Expert centres</a></li> <li><i class="arrow right"></i><a href="/en/expert-centres/networks">Networks of expert centres</a> </li> <li><i class="arrow right"></i><a href="/en/expert_centres/european-reference-network">European reference networks</a></li> </ul> </li> <li class="diagnostic col-12 col-sm-6 col-md-3"> <i class="fas fa-vial mb-2"></i>Diagnostic tests <ul class="list-unstyled"> <li><i class="arrow right"></i><a href="/en/diagnostic-tests/laboratories">Laboratories</a></li> <li><i class="arrow right"></i><a href="/en/diagnostic-tests/diagnostics">Diagnostic tests</a></li> </ul> </li> <li class="research col-12 col-sm-6 col-md-3"> <i class="fa-solid fa-flask-vial mb-2"></i>Research and trials <ul class="list-unstyled"> <li><i class="arrow right"></i><a href="/en/research-trials/research-projects">Research project(s)</a></li> <li><i class="arrow right"></i><a href="/en/research-trials/clinical-trials">Clinical trial(s)</a></li> <li><i class="arrow right"></i><a href="/en/research-trials/biobanks">Biobanks</a></li> <li><i class="arrow right"></i><a href="/en/research-trials/registries">Patient registries</a></li> <li><i class="arrow right"></i><a href="/en/research-trials/platforms">Platforms</a> </li> </ul> </li> <li class="report col-12 col-sm-6 col-md-3"> <i class="fas fa-book-open mb-2"></i>Other information <ul class="list-unstyled"> <li><i class="arrow right"></i><a href="/en/other-information/quality-charters">Quality charters</a></li> <li><i class="arrow right"></i><a href="/en/other-information/about-orphan-drugs">About orphan drugs</a></li> <li><i class="arrow right"></i><a href="/en/other-information/about_orphanet">About Orphanet</a></li> <li><i class="arrow right"></i><a href="/en/other-information/about-rare-diseases">About Rare Diseases</a></li> <li><i class="arrow right"></i><a href="/en/other-information/reports">Orphanet Reports series</a></li> <li><i class="arrow right"></i><a href="/en/other-information/orphanet-tutorial">Orphanet Tutorials</a></li> <li><i class="arrow right"></i><a href="/en/other-information/procedures">Orphanet procedures</a></li> </ul> </li> </ul> <div class="container mx-auto d-flex justify-content-around px-1"> <div class="bg-white col-9 row d-lg-flex d-none px-3 py-5"> <div class="col-6 pe-lg-4"> <div class="border-end border-1 border-dark"> <h5 class="orpha-blue fw-bold">Orphanet produces its data according to published procedures</h5> <a class="btn-blue mt-3" href="/en/other-information/procedures">Read</a> </div> </div> <div class="col-6 ps-lg-4 news-menu"> <ul class="list-unstyled mx-auto"> <li><a class="orpha-blue fw-bold" href="//ec.europa.eu/health-eu/health_problems/rare_diseases/index_en.html" title="Rare Diseases - European Commission">Rare Diseases - European Commission</a></li> <li><a class="orpha-blue fw-bold" href="//www.rd-action.eu/" title="RD-Action">RD-Action</a></li> <li><a class="orpha-blue fw-bold" href="//www.ema.europa.eu/ema/index.jsp?curl=pages/medicines/landing/orphan_search.jsp&mid=WC0b01ac058001d12b" title="European Medicines Agency">European Medicines Agency</a></li> <li><a class="orpha-blue fw-bold" href="//www.irdirc.org/" title="IRDiRC">IRDiRC</a></li> <li><a class="orpha-blue fw-bold" href="//rarediseases.info.nih.gov/" title="Office of rare diseases research (US)">Office of rare diseases research (US)</a></li> <li><a class="orpha-blue fw-bold" href="https://ec.europa.eu/health/rare_diseases/expert_group_en" title="EC Expert Group on Rare Diseases (EU)">EC Expert Group on Rare Diseases (EU)</a></li> <li><a class="orpha-blue fw-bold" href="//ec.europa.eu/health/ern/networks_en" title="European Reference Networks">European Reference Networks</a></li> <li><a class="orpha-blue fw-bold" href="https://ojrd.biomedcentral.com/" title="header.ern_ojrd_texttext">OJRD</a> </li> </ul> </div> </div> <div class="col-lg-3 col-12 row bg-white ms-2 text-center report-button align-self-start opacity-hover"> <a href="/en/other-information/reports" class="text-white h2 text-decoration-none p-5">Orphanet Report Series</a> </div> </div> <div class="container d-flex mx-auto justify-content-around gap-4 my-4 flex-wrap"> <div class="col-lg-4 col-12 row text-center opacity-hover border-orpha-news border-4 border"> <a href="//international.orphanews.org/" class="text-white h2 text-decoration-none align-self-center px-5 py-3"> <img class="align-self-center" height="45" alt="Read OrphaNews" src="/build/images/logo-orphanews.png"> </a> </div> <div class="col-lg-4 col-12 row text-center opacity-hover border-orpha-data border-4 border"> <a href="//www.orphadata.com/" class="text-white h2 text-decoration-none align-self-center px-5 py-3"> <img class="align-self-center" height="45" alt="Access Orphadata" src="/build/images/logo-orphadata.png"> </a> </div> <div class="col-lg-4 col-12 row text-center opacity-hover border-blue border-4 border"> <a href="//www.orphadata.com/ontologies/" class="text-white h2 text-decoration-none align-self-center px-5 py-3"> <img class="align-self-center" height="45" alt="Access ORDO" src="/build/images/logo-ordo.png"> </a> </div> </div> </nav> <div class="modal fade " id="socialShare" tabindex="-1" aria-labelledby="socialShare" aria-hidden="true"> <div class="modal-dialog"> <div class="modal-content rounded-0"> <div class="modal-header p-0 justify-content-end"> <div type="button" class="text-white bg-orpa-blue py-1 px-3 fs-4" data-bs-dismiss="modal" aria-label="Close">X</div> </div> <div class="modal-body"> <ul class="list-unstyled text-center"> <li class="mb-4"> <a class="orpha-blue" href="https://www.twitter.com/share?url=http://www.orpha.net/" target="_blank" title="Share"> <i class="fab fa-lg fa-twitter"></i> Share</a> </li> <li> <a class="orpha-blue" href="https://www.facebook.com/sharer/sharer.php?u=http://www.orpha.net/" target="_blank" title="Share"> <i class="fab fa-lg fa-facebook-square"></i> Share</a> </li> </ul> </div> </div> </div> </div> </header> <main class="container-fluid p-0"> <article class="home bg-image w-100 pt-5 text-center"> <nav class="row-fluid"> <div class="col-10 col-xl-4 mx-auto mb-4"> <div class="current-event"> <div class="mt-5 d-flex justify-content-center"> <a href="https://don.telethon.fr/"> <img src="/images/banner.png" alt="Telethon 2024" class="img-fluid" /> </a> </div> </div> <h1 class="display-6">Knowledge on rare diseases and orphan drugs</h1> <h2 class="col-lg-8 mx-auto h4 m-4">" Rare diseases are <span class="fw-bold">rare, but</span> rare disease patients are <span class="fw-bold">numerous</span> "</h2> <p class="display-6">Access our Services</p> <hr /> </div> <section class="col-xl-8 col-11 pb-5 mx-auto"> <div class="row g-3 mb-5"> <article class="col-lg-3 col-6"><div class="service-tile text-black disease py-3 px-1"> <a href="/en/disease" class="d-block h-100 w-100" title="Inventory, classification and encyclopaedia of rare diseases, with genes involved"> <div class="d-flex h-100 flex-column"> <span class="icon-container mb-2"><i class="fas fa-viruses fa-3x"></i></span> <p class="lh-1">Inventory, classification and encyclopaedia of rare diseases, with genes involved</p> </div> </a> </div> </article> <article class="col-lg-3 col-6"><div class="service-tile text-black drug py-3 px-1"> <a href="/en/drug" class="d-block h-100 w-100" title="Inventory of orphan drugs"> <div class="d-flex h-100 flex-column"> <span class="icon-container mb-2"><i class="fas fa-pills fa-3x"></i></span> <p class="lh-1">Inventory of orphan drugs</p> </div> </a> </div> </article> <article class="col-lg-3 col-6"><div class="service-tile text-black organisation py-3 px-1"> <a href="/en/patient-organisations" class="d-block h-100 w-100" title="Directory of patient organisations"> <div class="d-flex h-100 flex-column"> <span class="icon-container mb-2"><i class="fas fa-users fa-3x"></i></span> <p class="lh-1">Directory of patient organisations</p> </div> </a> </div> </article> <article class="col-lg-3 col-6"><div class="service-tile text-black professional py-3 px-1"> <a href="/en/institutions" class="d-block h-100 w-100" title="Directory of professionals and institutions"> <div class="d-flex h-100 flex-column"> <span class="icon-container mb-2"><i class="fas fa-user-md fa-3x"></i></span> <p class="lh-1">Directory of professionals and institutions</p> </div> </a> </div> </article> <article class="col-lg-3 col-6"><div class="service-tile text-black network py-3 px-1"> <a href="/en/expert-centres" class="d-block h-100 w-100" title="Directory of expert centres"> <div class="d-flex h-100 flex-column"> <span class="icon-container mb-2"><i class="fas fa-hospital fa-3x"></i></span> <p class="lh-1">Directory of expert centres</p> </div> </a> </div> </article> <article class="col-lg-3 col-6"><div class="service-tile text-black diagnostic py-3 px-1"> <a href="/en/diagnostic-tests/diagnostics" class="d-block h-100 w-100" title="Directory of medical laboratories providing diagnostic tests"> <div class="d-flex h-100 flex-column"> <span class="icon-container mb-2"><i class="fas fa-vial fa-3x"></i></span> <p class="lh-1">Directory of medical laboratories providing diagnostic tests</p> </div> </a> </div> </article> <article class="col-xl-3 col-lg-3 col-md-6 col-sm-6 col-6"><div class="service-tile text-black research py-3 px-1"> <a href="/en/research-trials/research-projects" class="d-block h-100 w-100" title="Directory of ongoing research projects, clinical trials, registries and biobanks"> <div class="d-flex h-100 flex-column"> <span class="icon-container mb-2"><i class="fa-solid fa-flask-vial fa-3x"></i></span> <p class="lh-1">Directory of ongoing research projects, clinical trials, registries and biobanks</p> </div> </a> </div> </article> <article class="col-lg-3 col-6"><div class="service-tile text-black report py-3 px-1"> <a href="/en/other-information/reports" class="d-block h-100 w-100" title="Collection of thematic reports: Orphanet Reports Series"> <div class="d-flex h-100 flex-column"> <span class="icon-container mb-2"><i class="fas fa-book-open fa-3x"></i></span> <p class="lh-1">Collection of thematic reports: Orphanet Reports Series</p> </div> </a> </div> </article> </div> <form name="simple_disorder_name_search" method="post" action="/en/disease"> <div class="row"> <div class="col-12 col-xl-10 col-md-9 mx-auto d-flex align-items-center no-radius home-search"> <i class="fs-4 fas fa-search d-none d-md-block me-2"></i> <input type="text" id="simple_disorder_name_search_name" name="simple_disorder_name_search[name]" required="required" placeholder="Search a disease" class="js-autocomplete form-control" data-autocomplete-url="/en/disease/autocomplete" /> <button type="submit" id="simple_disorder_name_search_search" name="simple_disorder_name_search[search]" class="btn-primary btn">Search</button> </div> </div> <input type="hidden" id="simple_disorder_name_search_mode" name="simple_disorder_name_search[mode]" value="name" /></form> </section> </nav> <div class="home-body pt-4 lh-sm"> <div class="d-lg-flex justify-content-around p-5"> <a class="text-decoration-none" href="//international.orphanews.org/summary/editorial/nl/id-200327.html" target="_blank" title="COVID19"> <img class="img-fluid" alt="COVID19" src="/build/images/EN/COVID-19-RareDiseases.png"> </a> <a href="//international.orphanews.org/newsletter-en/editorial/nl/en20200314.html#or_resources-for-refugees-and-displaced-persons-with-rare-diseases" target="_blank" title="Rare Diseases Resources for Refugees/Displaced Persons"> <img class="img-fluid" alt="Rare Diseases Resources for Refugees/Displaced Persons" src="/build/images/EN/Ukraine.png"> </a> </div> <div class="mx-auto pb-4 w-80"> <div class="whatis p-4 col-xxl-6 col-lg-8 col-12 mx-auto"> <h2 class="fs-1 mb-4 mt-10">What is <strong>Orphanet</strong> ?</h2> <hr/> <div class="col-lg-7 col-md-10 mt-4 col-12 mx-auto text-start"> <p>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. </p> <p>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. </p> </div> <a class="mx-3" href="//www.inserm.fr/" target="_blank" title="Logo INSERM"> <img width="130px" alt="Logo INSERM" src="/build/images/logo-inserm.png"> </a> <a class="mx-3" href="//ec.europa.eu/health/rare_diseases/policy/index_en.htm" target="_blank" title="Logo Health Program"> <img width="130px" alt="Logo Health Program" src="/build/images/EU_flag_and_co-funded_by_health_programme.jpg"> </a> <div class="p-4"> <a class="btn-blue me-3" href="/en/other-information/about_orphanet" title="Watch our videos"> Watch our videos </a> <a class="btn-blue me-3" href="/en/other-information/about_orphanet#about_orphanet" title="Learn more"> Learn more </a> </div> <a class="btn-blue mb-5" href="/en/other-information/about_orphanet?stapage=national" title="Orphanet national websites"> Orphanet national websites </a> </div> <div class="platforms bg-white d-flex justify-content-around text-start flex-wrap col-12 col-lg-10 col-xxl-8 mx-auto"> <div class="pe-lg-2 px-2 px-lg-0 col-12 col-lg-4 d-flex align-self-stretch"> <div class="platformOrphanews p-3 flex-column justify-content-between d-flex"> <img class="mb-4" width="210px" alt="Logo Orphanews" src="/build/images/logo-orphanews.png"> <p class="mb-4"> 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. </p> <p> <a class="px-2 py-1" href="//international.orphanews.org/" title="Read OrphaNews" target="_blank">Read OrphaNews </a> </p> </div> </div> <div class="pe-lg-2 py-2 py-lg-0 px-2 px-lg-0 col-12 col-lg-4 d-flex align-self-stretch"> <div class="platformOrphadata p-3 flex-column justify-content-between d-flex"> <img class="mb-4" width="210px" alt="//international.orphanews.org/" src="/build/images/logo-orphadata.png"> <p class="mb-4"> 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. </p> <p> <a href="//www.orphadata.com/" target="_blank" title="Access Orphadata" class="px-2 py-1">Access Orphadata </a> </p> </div> </div> <div class="col-12 px-2 px-lg-0 col-lg-4 d-flex align-self-stretch"> <div class="platformOrdo p-3 flex-column justify-content-between d-flex"> <img class="mb-4" height="35px" width="80px" alt="Logo Ordo" src="/build/images/logo-ordo.png"> <p class="mb-4"> 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. </p> <p> <a href="//www.orphadata.com/ontologies/" target="_blank" title="Access ORDO" class="px-2 py-1">Access ORDO </a> </p> </div> </div> </div> <div class="mx-auto min-vh-40 col-xxl-6 col-lg-8 col-12 col-md-10 bg-white"></div> </div> <div class="bg-white col-xxl-6 col-lg-8 col-md-10 mx-auto pb-4"> <h2 class="py-5">Contribute to Orphanet</h2> <p class="col-lg-6 col-md-10 mx-auto">Orphanet 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.</p>  <div class="targetsContribute d-flex flex-wrap justify-content-around"> <div class="col-12 d-flex flex-column align-items-center justify-content-around col-sm-6 col-lg-4 expert p-3"> <img alt="Experts scientifiques" src="/build/images/picto-experts.png" width="140"> <h3 class="mt-3 mb-2">Expertise</h3> <p>Contribute to Orphanet scientific data and give your feedback using our interactive community-driven curation platform for experts.</p> <a class="btn-blue" href="/en/institutions/get-in-touch/contact/29" title="Contribute">Contribute</a> </div> <div class="col-12 d-flex flex-column align-items-center justify-content-around col-sm-6 col-lg-4 professional p-3"> <img alt="Professionnels du champs maladies rares" src="/build/images/picto-registration.png" width="140"> <h3 class="mt-3 mb-2">Registration</h3> <p>Improve the visibility of your activities related to rare diseases by registering them with Orphanet.</p> <a class="btn-blue" href="/en/institutions/get-in-touch/register-update-activity" title="Register your activity">Register your activity</a> </div> <div class="col-12 d-flex flex-column align-items-center justify-content-around col-lg-4 sponsors p-3"> <img alt="Sponsorship" src="/build/images/picto-sponsors.png" width="140"> <h3 class="mt-3 mb-2">Sponsorship</h3> <p>Partner with Orphanet and support us in our mission to improve knowledge and information on rare diseases.</p> <a class="btn-blue" href="/pdfs/orphacom/special/Sponsor_Orphanet.pdf" target="_blank" title="Sponsor">Sponsor</a> </div> </div> </div> <div class="cahierOrphanet col-12 col-md-10 col-xxl-8 my-5 mx-auto"> <h2 class="mt-3 pt-5 pb-4">Orphanet Report Series</h2> <div class="mx-auto d-flex flex-column flex-md-row-reverse col-md-11 justify-content-center"> <div class="col-12 mx-auto col-md-2 col-lg-2 px-3 d-flex justify-content-center"> <img class="pb-4" alt="Last report of Orphanet" src="/build/images/couv-cahier.jpg"> </div> <div class="col-12 col-md-8 col-lg-8 px-3"> <p class="text-start"> 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. </p> <p class="text-start mt-4 mb-5"> <a class="py-1 px-2" href="/en/other-information/reports" title="Consult the reports">Consult the reports</a> </p> </div> </div> </div> <div class="col-12 col-md-10 col-lg-8 col-xxl-6 flex-column flex-md-row other-diseases-procedure d-flex p-4 p-lg-0 py-lg-4 text-start bg-white mx-auto"> <div class="col-md-6 col-12"> <h3 class="col-md-8 col-10 mx-md-auto">Orphanet published procedures</h3> <ul class="list-unstyled col-lg-6 ms-5 mx-lg-auto"> <li> <a href="/en/other-information/procedures" title="Orphanet produces its data according to published procedures">Orphanet produces its data according to published procedures</a> </li> </ul> </div> <div class="col-md-6 col-12"> <h3 class="col-md-8 col-10 mx-md-auto">Other rare diseases websites</h3> <ul class="list-unstyled col-lg-6 ms-5 mx-lg-auto"> <li><a href="//ec.europa.eu/health/non_communicable_diseases/rare_diseases_en" title="Rare Diseases - European Commission">Rare Diseases - European Commission</a> </li> <li><a href="//www.rd-action.eu/" title="RD-Action">RD-Action</a> </li> <li><a href="//www.ema.europa.eu/en/human-regulatory/overview/orphan-designation" title="European Medicines Agency">European Medicines Agency</a> </li> <li><a href="//www.irdirc.org/" title="IRDiRC">IRDiRC</a> </li> <li><a href="//rarediseases.info.nih.gov/" title="Office of rare diseases research (US)">Office of rare diseases research (US)</a> </li> <li><a href="//ec.europa.eu/health/ern_en" title="European Reference Networks">European Reference Networks</a> </li> <li><a href="//ojrd.biomedcentral.com/" title="OJRD">OJRD</a> </li> </ul> </div> </div> <div class="mx-auto events col-10 col-lg-8 col-xxl-6"> <h2 class="p-5 text-black">Events</h2> <div class="d-flex flex-wrap justify-content-around"> <div class="row col-12 mb-2 col-md-4"> <div class="bg-white p-2 col-4 align-self-start m-2"> <p><span class="fs-5">March 2025</span></p> <strong class="fs-3">5-7</strong> </div> <div class="col-7 text-start"> <h3 class="fs-6"> <a href="https://www.react-congress.org/" target="_blank" title="RE Congress and IRDiRC Conference">RE Congress and IRDiRC Conference</a> </h3> <p><i class="bi bi-geo-alt-fill fs-4 green"></i>Brussels, Belgium</p> </div> </div> <div class="row col-12 mb-2 col-md-4"> <div class="bg-white p-2 col-4 align-self-start m-2"> <p><span class="fs-5">October</span></p> <strong class="fs-3">23-25</strong> </div> <div class="col-7 text-start"> <h3 class="fs-6"> <a href="https://www.terrapinn.com/conference/world-orphan-drug-congress/index.stm" target="_blank" title="World Orphan Drug Congress Europe 2024">World Orphan Drug Congress Europe 2024</a> </h3> <p><i class="bi bi-geo-alt-fill fs-4 green"></i>Barcelona</p> </div> </div> <div class="row col-12 mb-2 col-md-4"> <div class="bg-white p-2 col-4 align-self-start m-2"> <p><span class="fs-5">December</span></p> <strong class="fs-3">11-13</strong> </div> <div class="col-7 text-start"> <h3 class="fs-6"> <a href="https://erica-rd.eu/event/erica-ga-ern-research-conference/" target="_blank" title="ERICA 4th General Assembly & ERN Research Conference">ERICA 4th General Assembly & ERN Research Conference</a> </h3> <p><i class="bi bi-geo-alt-fill fs-4 green"></i>Udine, Italy</p> </div> </div> </div> <a class="btn-blue mt-4" href="//international.orphanews.org/home.html#Events" target="_blank" title="See all">See all</a> </div> <div class="figure text-white col-12 mt-5"> <h2 class="text-white m-5">Orphanet in numbers</h2> <ul class="list-unstyled d-flex flex-wrap mx-auto justify-content-around col-12 col-lg-10 col-xl-8"> <li class="d-flex flex-column align-items-center mb-4 col-6 col-sm-auto"> <i class="fas mb-4 fs-1 fa-disease icon"></i> <strong class="fs-4">6417</strong> Diseases <p> <a href="//www.ncbi.nlm.nih.gov/pubmed/31527858" target="_blank"> <i class="fas fa-external-link-alt text-white"></i> </a> </p> </li> <li class="d-flex flex-column align-items-center mb-4 col-6 col-sm-auto"> <i class="fas mb-4 fs-1 fa-dna"></i> <strong class="fs-4">4462</strong> Genes </li> <li class="d-flex flex-column align-items-center mb-4 col-6 col-sm-auto"> <i class="fas mb-4 fs-1 fa-hospital-alt"></i> <strong class="fs-4">8722</strong> Expert centre(s) </li> <li class="d-flex flex-column align-items-center mb-4 col-6 col-sm-auto"> <i class="fas mb-4 fs-1 fa-vial"></i> <strong class="fs-4">36595</strong> Diagnostic tests </li> <li class="d-flex flex-column align-items-center mb-4 col-6 col-sm-auto"> <i class="fas mb-4 fs-1 fa-user-md"></i> <strong class="fs-4">30456</strong> Professionals </li> <li class="d-flex flex-column align-items-center mb-4 col-6 col-sm-auto"> <i class="fas mb-4 fs-1 fa-globe"></i> <strong class="fs-4">2.8 M</strong> Pages viewed monthly </li> </ul> </div> </div> </article> </main> <script src="/build/runtime.f3575a88.js" defer></script><script src="/build/755.5a8586e9.js" defer></script><script src="/build/673.f47275b8.js" defer></script><script src="/build/467.7cd7293e.js" defer></script><script src="/build/app.f38c68b0.js" defer></script> </body> <footer> <section class="partners bg-white my-3 d-print-none"> <h3 class="fs-5 text-center orpha-blue fw-bold">With the support of</h3> <div class="row col-lg-10 mx-auto my-4"> <ul class="list-unstyled d-inline-flex col-12 col-lg-6 flex-wrap justify-content-evenly align-items-center border-blue"> <li class="d-inline"> <a title="Site Internet de l'Inserm" href="//www.inserm.fr/" target="_blank"> <img src="/build/images/partners/logo-inserm.png" height="20px" alt="Site Internet de l'Inserm"> </a> </li> <li class="d-inline"> <a title="Link to the French Ministry of Health" href="//www.sante.gouv.fr/" target="_blank"> <img src="/build/images/partners/logo-sante_jeunesse_sports.png" alt="Link to the French Ministry of Health"> </a> </li> <li class="d-inline"> <a title="Link to CEE website" href="//health.ec.europa.eu/rare-diseases-and-european-reference-networks/rare-diseases_en" target="_blank"> <img src="/build/images/partners/logo-CEE_RDPortal.jpg" alt="Link to CEE website"> </a> </li> </ul> <ul class="list-unstyled d-inline-flex col-12 col-lg-6 flex-wrap justify-content-evenly align-items-center"> <li class="d-inline"> <a title="Site Internet de l'AFM" href="//www.afm-telethon.fr" target="_blank"> <img src="/build/images/partners/logo-AFM.jpg" alt="Site Internet de l'AFM"> </a> </li> <li class="d-inline"> <a title="Site Internet de Groupama" href="//www.fondation-groupama.com" target="_blank"> <img style="width:105px;" src="/build/images/partners/groupama.jpg" alt="Site Internet de Groupama"></a> </li> <li class="d-inline"> <a title="Institut fran莽ais de Bioinformatique" href="//www.france-bioinformatique.fr/?q=fr/orphanet" target="_blank"> <img src="/build/images/partners/Institut-Francais-de-Bioinformatique-IFB-petit.png" alt="Institut fran莽ais de Bioinformatique"> </a> </li> </ul> <h3 class="fs-5 text-center orpha-blue fw-bold">Orphanet is recognised as/by</h3> <div class="row col-lg-10 mx-auto my-4"> <ul class="list-unstyled d-inline-flex col-12 flex-wrap justify-content-center align-items-center"> <li class="d-inline me-4"> <a title="information sur le label IRDiRC" href="//www.irdirc.org/activities/irdirc-recognized-resources/" target="_blank"> <img src="/build/images/partners/IRDIRC_logo3-Recomm-Recogn.jpg" alt="information sur le label IRDiRC"> </a> </li> <li class="d-inline me-4"> <a title="HVP Logo" > <img src="/build/images/partners/HVP_Logo.png" alt="HVP Logo"> </a> </li> <li class="d-inline"> <a title="GA4GH Logo" href="//www.ga4gh.org/" target="_blank"> <img src="/build/images/partners/GA_logo_100px.png" 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