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Orphanet : Diseases
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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/en/disease/encyclopedia" 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/en/disease/encyclopedia" 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="diseases w-100 py-5"> <header class="row-fluid text-center"> <div class="col-12 my-4"> <div class="current-event"> <div class="mt-5 d-flex justify-content-center"> <div class="bandeau-search"> <a href="https://don.telethon.fr/"> <img src="/images/banner.png" alt="Telethon 2024" class="img-fluid" /> </a> </div> </div> <h1 class="current-image-title mb-0">Knowledge on <strong>rare diseases</strong> and <strong>orphan drugs</strong></h1> <a class="orpha-blue small text-decoration-underline" href="http://international.orphanews.org/summary/editorial/nl/id-200327.html" target="_blank" title="COVID-19 & Rare diseases"> COVID-19 & Rare diseases </a> <img class="img-fluid" alt="logo" src="/build/images/logoMain.png" width="4%"> <a class="orpha-blue small text-decoration-underline" href="https://international.orphanews.org/newsletter-en/editorial/nl/en20200314.html#or_resources-for-refugees-and-displaced-persons-with-rare-diseasesFR/IP_22_1469" target="_blank" title="Rare Diseases Resources for Refugees/Displaced Persons"> Rare Diseases Resources for Refugees/Displaced Persons </a> </div> </div> </header> <article class="row gx-0 gb-2"> <div class="col-xxl-9 col-lg-11 col-11 mx-auto service-wrapper pb-5"> <header class="row g-0 mb-4"> <aside class="d-none d-sm-none d-lg-block col-2"> <div class="h-100 w-100 d-flex flex-column justify-content-evenly text-center service-card py-4 px-2"> <span class="icon-container"><i class="fas fa-viruses fa-3x"></i></span> <span>Rare diseases</span> </div> </aside> <div class="col-10"> <div class="h-100 w-100 d-flex flex-column justify-content-evenly ps-4 mt-4 mt-md-0 d-print-none"> <span class="my-sm-3 icon-container"><a href="/">Homepage</a> > <a href="/en/disease">Rare diseases</a> > <strong><a href="/en/disease/encyclopedia">Encyclopaedia</a></strong></span> <h2>Encyclopaedia</h2> </div> </div> </header> <main class="row g-0"> <nav class="d-none d-sm-none d-lg-block col-2"> <ul class="list-unstyled"> <li class=""><a target="_self" href=/en/disease> Search</a></li> <li class=""><a target="_self" href=/en/disease/signs> Clinical Signs and Symptoms</a></li> <li class=""><a target="_self" href=/en/disease/classification> Classifications</a></li> <li class=""><a target="_self" href=/en/disease/gene> Genes</a></li> <li class=""><a target="_self" href=/en/disease/disability> Disability</a></li> <li class="current"><a target="_self" href=/en/disease/encyclopedia> Encyclopaedia</a></li> <li class=""><a target="_self" href=/en/disease/emergency-guidelines> Emergency guidelines</a></li> <li><a target="_blank" href=//nbs.orphanet.app/?lang=en> Newborn screening library</a></li> <li><a target="_blank" href=https://orphanetguides.orphanet.app/Orphanet_rdk_en.htm> App RDK TM</a></li> <li class=""><a target="_self" href=/en/other-information/procedures> Sources/procedures</a></li> <li class=""><a target="_self" href=/en/other-information/reports> Orphanet Reports series</a></li> <li><a target="_blank" href=//www.orphadata.com/> Download Dataset</a></li> </ul> </nav> <div class="col-sm-12 col-lg-10 col-xl-10"> <fieldset class="service-color-box align-self-start mx-4 p-3 mb-5"> <form name="encyclopedia_search" method="post" action="/en/disease/encyclopedia"> <div class="row mb-5"> <div class="col-12 col-xl-10 col-md-9"> <input type="text" id="encyclopedia_search_name" name="encyclopedia_search[name]" required="required" placeholder="Disease name" class="js-autocomplete form-control" data-autocomplete-url="/en/disease/autocomplete" /> </div> <div class="col-12 col-xl-2 col-md-3 mt-2 mt-md-0"> <button type="submit" id="encyclopedia_search_search" name="encyclopedia_search[search]" class="btn-primary btn">Search</button> </div> </div> </form> <div class="more-options float-md-end float-sm-start"> <label class="fw-bold service-color"> Other search option(s) <span class="up d-none"><i class="fas fa-caret-up"></i></span> <span class="down"><i class="fas fa-caret-up fa-rotate-180"></i></span> </label> <ul class="list-unstyled opacity-0" aria-expanded="false"> <li> <span class="service-color"><i class="fas fa-chevron-right"></i></span> <a href="/en/disease/encyclopedia/list">Alphabetical list</a> </li> </ul> </div> </fieldset> <div class="row g-0"> <div class="col-12"> <div class="help px-4 mt-4"> <h3>Help</h3> <p>Orphanet provides access to an Encyclopedia made up of informative texts including; articles for general public, guidelines (emergency, anesthesia and clinical practice), disease review articles (general review articles, clinical genetics review and diagnostic criteria), disability fact sheet, guidelines for genetic testing and summary information in different languages. Texts are either produced by Orphanet (summary information, emergency guidelines, disability fact sheets) or produced by other parties and selected for the quality according to standard procedures.</p> <p class="fw-bold">Enter your requested disease name to access this information.</p> <div class="warning p-5"> <h4><i class="fas fa-sm fa-exclamation-triangle"></i> Warning</h4> <p>Information in Orphanet is updated on a regular basis. It may happen that new discoveries are made in between updates and do not yet appear.</p> <p>These texts are not yet available in all of the 7 Orphanet languages or for all rare diseases.</p> <p>These general texts may not apply to specific cases, due to the extensive variability of disease expression. Some information may look disturbing. It is of the utmost importance to verify if the provided information is relevant or not to a specific case with a medical professional.</p> <p>Information in Orphanet is not intended to replace professional health care. 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