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padding-right:calc( var(--ubermenu-accordion-indent) * 2 ); } .rtl .ubermenu.ubermenu-mobile-accordion-indent .ubermenu-submenu-drop .ubermenu-submenu-drop .ubermenu-submenu-drop .ubermenu-item > .ubermenu-target, .rtl .ubermenu.ubermenu-mobile-accordion-indent .ubermenu-submenu-drop .ubermenu-tab-content-panel .ubermenu-tab-content-panel .ubermenu-item > .ubermenu-target{ padding-left:0; padding-right:calc( var(--ubermenu-accordion-indent) * 3 ); } .rtl .ubermenu.ubermenu-mobile-accordion-indent .ubermenu-submenu-drop .ubermenu-submenu-drop .ubermenu-submenu-drop .ubermenu-submenu-drop .ubermenu-item > .ubermenu-target, .rtl .ubermenu.ubermenu-mobile-accordion-indent .ubermenu-submenu-drop .ubermenu-tab-content-panel .ubermenu-tab-content-panel .ubermenu-tab-content-panel .ubermenu-item > .ubermenu-target{ padding-left:0; padding-right:calc( var(--ubermenu-accordion-indent) * 4 ); } .ubermenu-responsive-toggle{ display:block; } } @media screen and (max-width: 480px){ .ubermenu.ubermenu-responsive .ubermenu-item-level-0{ width:100%; } .ubermenu.ubermenu-responsive .ubermenu-column, .ubermenu.ubermenu-responsive .ubermenu-column-auto{ min-width:100%; } .ubermenu .ubermenu-autocolumn:not(:first-child), .ubermenu .ubermenu-autocolumn:not(:first-child) .ubermenu-submenu-type-stack{ padding-top:0; } .ubermenu .ubermenu-autocolumn:not(:last-child), .ubermenu .ubermenu-autocolumn:not(:last-child) .ubermenu-submenu-type-stack{ padding-bottom:0; } .ubermenu .ubermenu-autocolumn > .ubermenu-submenu-type-stack > .ubermenu-item-normal:first-child{ margin-top:0; } /* Accordion submenus mobile */ .ubermenu.ubermenu-responsive.ubermenu-mobile-accordion.ubermenu-interaction-press .ubermenu-item > .ubermenu-submenu-drop, .ubermenu.ubermenu-responsive.ubermenu-mobile-accordion.ubermenu-interaction-press .ubermenu-tab > .ubermenu-tab-content-panel{ box-shadow:none; box-sizing:border-box; border-left:none; border-right:none; } .ubermenu.ubermenu-responsive.ubermenu-mobile-accordion.ubermenu-interaction-press .ubermenu-item.ubermenu-active > .ubermenu-submenu-drop, .ubermenu.ubermenu-responsive.ubermenu-mobile-accordion.ubermenu-interaction-press .ubermenu-tab.ubermenu-active > .ubermenu-tab-content-panel{ position:static; } } /** UberMenu Custom Menu Styles (Customizer) **/ /* main */ .ubermenu-main .ubermenu-nav .ubermenu-item.ubermenu-item-level-0 > .ubermenu-target { font-weight:600; } .ubermenu-main .ubermenu-item-level-0 > .ubermenu-target { color:#0f131b; padding-left:12px; padding-right:12px; } .ubermenu-main .ubermenu-item-level-0.ubermenu-current-menu-item > .ubermenu-target, .ubermenu-main .ubermenu-item-level-0.ubermenu-current-menu-parent > .ubermenu-target, .ubermenu-main .ubermenu-item-level-0.ubermenu-current-menu-ancestor > .ubermenu-target { color:#fc4c02; } .ubermenu-main.ubermenu-sub-indicators .ubermenu-item-level-0.ubermenu-has-submenu-drop > .ubermenu-target:not(.ubermenu-noindicator) { padding-right:27px; } .ubermenu-main.ubermenu-sub-indicators .ubermenu-item-level-0.ubermenu-has-submenu-drop > .ubermenu-target.ubermenu-noindicator { padding-right:12px; } .ubermenu-main .ubermenu-item-normal > .ubermenu-target,.ubermenu-main .ubermenu-submenu .ubermenu-target,.ubermenu-main .ubermenu-submenu .ubermenu-nonlink,.ubermenu-main .ubermenu-submenu .ubermenu-widget,.ubermenu-main .ubermenu-submenu .ubermenu-custom-content-padded,.ubermenu-main .ubermenu-submenu .ubermenu-retractor,.ubermenu-main .ubermenu-submenu .ubermenu-colgroup .ubermenu-column,.ubermenu-main .ubermenu-submenu.ubermenu-submenu-type-stack > .ubermenu-item-normal > .ubermenu-target,.ubermenu-main .ubermenu-submenu.ubermenu-submenu-padded { padding:5px; } .ubermenu-main .ubermenu-grid-row { padding-right:5px; } .ubermenu-main .ubermenu-grid-row .ubermenu-target { padding-right:0; } .ubermenu-main.ubermenu-sub-indicators .ubermenu-submenu :not(.ubermenu-tabs-layout-right) .ubermenu-has-submenu-drop > .ubermenu-target { padding-right:25px; } .ubermenu-main .ubermenu-submenu .ubermenu-item-header > .ubermenu-target, .ubermenu-main .ubermenu-tab > .ubermenu-target { font-size:16px; } .ubermenu-main .ubermenu-submenu .ubermenu-item-header > .ubermenu-target { color:#00558c; } .ubermenu-main .ubermenu-submenu .ubermenu-item-header > .ubermenu-target:hover { color:#00558c; } .ubermenu-main .ubermenu-nav .ubermenu-submenu .ubermenu-item-header > .ubermenu-target { font-weight:600; } .ubermenu-main .ubermenu-submenu .ubermenu-item-header.ubermenu-has-submenu-stack > .ubermenu-target { border:none; } .ubermenu-main .ubermenu-submenu-type-stack { padding-top:0; } /* premasthead */ .ubermenu-premasthead .ubermenu-nav .ubermenu-item.ubermenu-item-level-0 > .ubermenu-target { font-weight:500; } .ubermenu-premasthead .ubermenu-item-level-0 > .ubermenu-target { color:#0f131b; padding-left:8px; padding-right:8px; } .ubermenu-premasthead .ubermenu-item-level-0.ubermenu-current-menu-item > .ubermenu-target, .ubermenu-premasthead .ubermenu-item-level-0.ubermenu-current-menu-parent > .ubermenu-target, .ubermenu-premasthead .ubermenu-item-level-0.ubermenu-current-menu-ancestor > .ubermenu-target { color:#fc4c02; } .ubermenu-premasthead .ubermenu-item-level-0 > .ubermenu-target, .ubermenu-premasthead .ubermenu-item-level-0 > .ubermenu-custom-content.ubermenu-custom-content-padded { padding-top:6px; padding-bottom:6px; } .ubermenu-premasthead.ubermenu-sub-indicators .ubermenu-item-level-0.ubermenu-has-submenu-drop > .ubermenu-target:not(.ubermenu-noindicator) { padding-right:23px; } .ubermenu-premasthead.ubermenu-sub-indicators .ubermenu-item-level-0.ubermenu-has-submenu-drop > .ubermenu-target.ubermenu-noindicator { padding-right:8px; } .ubermenu.ubermenu-premasthead .ubermenu-item-normal > .ubermenu-target:hover, .ubermenu.ubermenu-premasthead .ubermenu-item-normal.ubermenu-active > .ubermenu-target { color:#0099bc; } .ubermenu-premasthead, .ubermenu-premasthead .ubermenu-target, .ubermenu-premasthead .ubermenu-nav .ubermenu-item-level-0 .ubermenu-target { font:13px Lato, sans-serif; } /* mobheadrmainmenu */ .ubermenu-mobheadrmainmenu .ubermenu-item-level-0 > .ubermenu-target { font-size:20px; text-transform:capitalize; color:#0f131b; border-top:1px solid #979797; } .ubermenu-mobheadrmainmenu .ubermenu-nav .ubermenu-item.ubermenu-item-level-0 > .ubermenu-target { font-weight:400; } .ubermenu.ubermenu-mobheadrmainmenu .ubermenu-item-level-0:hover > .ubermenu-target, .ubermenu-mobheadrmainmenu .ubermenu-item-level-0.ubermenu-active > .ubermenu-target { color:#0099bc; } .ubermenu-mobheadrmainmenu .ubermenu-item-level-0.ubermenu-current-menu-item > .ubermenu-target, .ubermenu-mobheadrmainmenu .ubermenu-item-level-0.ubermenu-current-menu-parent > .ubermenu-target, .ubermenu-mobheadrmainmenu .ubermenu-item-level-0.ubermenu-current-menu-ancestor > .ubermenu-target { color:#0099bc; background:#0099bc; } .ubermenu.ubermenu-mobheadrmainmenu .ubermenu-item-level-0 > .ubermenu-target { background:#ffffff; } .ubermenu-mobheadrmainmenu .ubermenu-item-normal > .ubermenu-target,.ubermenu-mobheadrmainmenu .ubermenu-submenu .ubermenu-target,.ubermenu-mobheadrmainmenu .ubermenu-submenu .ubermenu-nonlink,.ubermenu-mobheadrmainmenu .ubermenu-submenu .ubermenu-widget,.ubermenu-mobheadrmainmenu .ubermenu-submenu .ubermenu-custom-content-padded,.ubermenu-mobheadrmainmenu .ubermenu-submenu .ubermenu-retractor,.ubermenu-mobheadrmainmenu .ubermenu-submenu .ubermenu-colgroup .ubermenu-column,.ubermenu-mobheadrmainmenu .ubermenu-submenu.ubermenu-submenu-type-stack > .ubermenu-item-normal > .ubermenu-target,.ubermenu-mobheadrmainmenu .ubermenu-submenu.ubermenu-submenu-padded { padding:5px 5px; } .ubermenu-mobheadrmainmenu .ubermenu-grid-row { padding-right:5px 5px; } .ubermenu-mobheadrmainmenu .ubermenu-grid-row .ubermenu-target { padding-right:0; } .ubermenu-mobheadrmainmenu.ubermenu-sub-indicators .ubermenu-submenu :not(.ubermenu-tabs-layout-right) .ubermenu-has-submenu-drop > .ubermenu-target { padding-right:25px; } .ubermenu-mobheadrmainmenu .ubermenu-submenu .ubermenu-item-header > .ubermenu-target, .ubermenu-mobheadrmainmenu .ubermenu-tab > .ubermenu-target { font-size:18px; } .ubermenu-mobheadrmainmenu .ubermenu-submenu .ubermenu-item-header > .ubermenu-target { color:#00558c; } .ubermenu-mobheadrmainmenu .ubermenu-nav .ubermenu-submenu .ubermenu-item-header > .ubermenu-target { font-weight:900; } .ubermenu-mobheadrmainmenu .ubermenu-submenu .ubermenu-item-header.ubermenu-has-submenu-stack > .ubermenu-target { border:none; } .ubermenu-mobheadrmainmenu .ubermenu-submenu-type-stack { padding-top:0; } /** UberMenu Custom Menu Item Styles (Menu Item Settings) **/ /* 13736 */ .ubermenu .ubermenu-item.ubermenu-item-13736 > .ubermenu-target,.ubermenu .ubermenu-item.ubermenu-item-13736 > .ubermenu-content-block,.ubermenu .ubermenu-item.ubermenu-item-13736.ubermenu-custom-content-padded { padding:12px 5px 37px 5px; } /* 13737 */ .ubermenu .ubermenu-item.ubermenu-item-13737 > .ubermenu-target,.ubermenu .ubermenu-item.ubermenu-item-13737 > .ubermenu-content-block,.ubermenu .ubermenu-item.ubermenu-item-13737.ubermenu-custom-content-padded { padding:12px 5px 52px 5px; } /* Status: Loaded from Transient */ @media \0screen { .ubermenu .ubermenu-image { width: auto } } /* Prevent height distortion in IE8. */ </style><meta name="tec-api-version" content="v1"><meta name="tec-api-origin" content="https://rarediseases.org"><link rel="alternate" href="https://rarediseases.org/wp-json/tribe/events/v1/" /><script type="text/javascript"> var ajaxurl = "https://rarediseases.org/wp-admin/admin-ajax.php"; </script><script id='nitro-telemetry-meta' nitro-exclude>window.NPTelemetryMetadata={missReason: (!window.NITROPACK_STATE ? 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'https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f); })(window,document,'script','dataLayer','GTM-5DKMZF5');</script>  <script name="rare-disease-schema-gpt" type="application/ld+json">{"@context":"https://schema.org/","@type":"MedicalCondition","name":"Paroxysmal Nocturnal Hemoglobinuria","url":"https://rarediseases.org/rare-diseases/paroxysmal-nocturnal-hemoglobinuria/","description":"Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired disorder characterized by the destruction of red blood cells, blood clots, and impaired bone marrow function.","associatedAnatomy":{"@type":"AnatomicalStructure","name":"Blood","description":"The condition affects the blood, specifically red blood cells."},"possibleTreatment":"Treatment options for PNH may include blood transfusions, immunosuppressive therapy, and bone marrow transplantation.","signOrSymptom":"Symptoms of PNH may include fatigue, shortness of breath, abdominal pain, and dark urine.","differentialDiagnosis":"PNH can be differentiated from other conditions such as aplastic anemia and autoimmune hemolytic anemia through laboratory tests and genetic testing.","riskFactor":"Risk factors for PNH include a history of aplastic anemia, certain genetic mutations, and exposure to certain chemicals or toxins.","sameAs":"https://en.wikipedia.org/wiki/Paroxysmal_nocturnal_hemoglobinuria"}</script></head> <body class="rare-diseases-template-default single single-rare-diseases postid-1557 wp-custom-logo tribe-no-js tribe-theme-nord">  <noscript><iframe src="https://www.googletagmanager.com/ns.html?id=GTM-5DKMZF5" height="0" width="0" style="display:none;visibility:hidden"></iframe></noscript>   <script type="text/javascript" defer="defer" src="https://extend.vimeocdn.com/ga/62965648.js"></script> <svg display="none"> <defs> <g id="img-icon-annual-events"> <g xmlns="http://www.w3.org/2000/svg" fill-rule="evenodd"><path d="M7.15629012,12.7411696 C7.59315476,12.7472629 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Strong.</span></a></li><li id="menu-item-13666" class="ubermenu-button ubermenu-item ubermenu-item-type-custom ubermenu-item-object-custom ubermenu-level-4 ubermenu-item-13666 ubermenu-item-auto ubermenu-item-normal ubermenu-item-level-4 ubermenu-column ubermenu-column-auto" ><a class="ubermenu-target ubermenu-item-layout-default ubermenu-item-layout-text_only" href="https://rarediseases.org/working-together/"><span class="ubermenu-target-title ubermenu-target-text">Learn More</span></a></li></ul></li></ul></li></ul></div></li><li id="menu-item-153" class="ubermenu-item ubermenu-item-type-post_type ubermenu-item-object-page ubermenu-item-has-children ubermenu-level-0 ubermenu-advanced-sub ubermenu-item-153 ubermenu-item-level-0 ubermenu-column ubermenu-column-auto ubermenu-has-submenu-drop ubermenu-has-submenu-mega" ><a class="ubermenu-target ubermenu-item-layout-default ubermenu-item-layout-text_only" href="https://rarediseases.org/advancing-research/" tabindex="0"><span class="ubermenu-target-title ubermenu-target-text">Advancing Research</span><i class='ubermenu-sub-indicator fas fa-angle-down'></i></a><div class="ubermenu-submenu ubermenu-submenu-id-153 ubermenu-submenu-type-auto ubermenu-submenu-type-mega ubermenu-submenu-drop ubermenu-submenu-align-full_width" aria-hidden="true"><ul class="ubermenu-row ubermenu-row-id-13682 ubermenu-autoclear "><li class=" ubermenu-item ubermenu-item-type-custom ubermenu-item-object-ubermenu-custom ubermenu-item-has-children ubermenu-level-2 ubermenu-item-13683 ubermenu-item-level-2 ubermenu-column ubermenu-column-1-5 ubermenu-has-submenu-stack ubermenu-item-type-column ubermenu-column-id-13683"><ul class="ubermenu-submenu ubermenu-submenu-id-13683 ubermenu-submenu-type-stack" ><li id="menu-item-13684" class="ubermenu-item ubermenu-item-type-custom ubermenu-item-object-custom ubermenu-item-has-children ubermenu-level-3 ubermenu-item-13684 ubermenu-item-header ubermenu-item-level-3 ubermenu-column ubermenu-column-auto ubermenu-has-submenu-stack" ><a class="ubermenu-target ubermenu-item-layout-default ubermenu-item-layout-text_only" href="https://rarediseases.org/advancing-research/iamrare-patient-registry-platform/"><span class="ubermenu-target-title ubermenu-target-text">For patients</span></a><ul class="ubermenu-submenu ubermenu-submenu-id-13684 ubermenu-submenu-type-auto ubermenu-submenu-type-stack" ><li id="menu-item-13688" class="ubermenu-item ubermenu-item-type-custom ubermenu-item-object-custom ubermenu-level-4 ubermenu-item-13688 ubermenu-item-auto ubermenu-item-normal ubermenu-item-level-4 ubermenu-column ubermenu-column-auto" ><a class="ubermenu-target ubermenu-item-layout-default ubermenu-item-layout-text_only" href="https://rarediseases.org/rare-diseases/"><span class="ubermenu-target-title ubermenu-target-text">List of Rare Diseases</span></a></li><li id="menu-item-13689" class="ubermenu-item ubermenu-item-type-custom ubermenu-item-object-custom ubermenu-level-4 ubermenu-item-13689 ubermenu-item-auto ubermenu-item-normal ubermenu-item-level-4 ubermenu-column ubermenu-column-auto" ><a class="ubermenu-target ubermenu-item-layout-default ubermenu-item-layout-text_only" href="https://rarediseases.org/gene-therapy/"><span class="ubermenu-target-title ubermenu-target-text">Gene Therapy for Rare Disease</span></a></li><li id="menu-item-13696" class="ubermenu-item ubermenu-item-type-custom ubermenu-item-object-custom ubermenu-level-4 ubermenu-item-13696 ubermenu-item-auto ubermenu-item-normal ubermenu-item-level-4 ubermenu-column ubermenu-column-auto" ><a class="ubermenu-target ubermenu-item-layout-default ubermenu-item-layout-text_only" href="https://rarediseases.org/living-with-a-rare-disease/explore-clinical-trials/"><span class="ubermenu-target-title ubermenu-target-text">Find Clinical Trials & Research Studies</span></a></li></ul></li></ul></li><li class=" ubermenu-item ubermenu-item-type-custom ubermenu-item-object-ubermenu-custom 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<div class="col-lg-9 col-12"> <div class="hide-desktop"> <div class="sidebar-search-widget"> <h4>Get Information about a Rare Disease</h4> <p>Use the form below to explore NORD's comprehensive rare disease database. Search for detailed information on rare diseases, including NORD's authoritative Rare Disease Reports and data from other reliable sources.<br/><em>* = NORD Rare Disease Report</em></p> <form action="https://rarediseases.org/" id="rdb-search" method="get" autocomplete="off"> <input type="text" name="s" id="search" value="" placeholder="Enter your disease search term..." /> <div id="search-suggestions" style="display:none;"></div> <input type="hidden" name="rdb-search" value="true" /> <input type="hidden" name="post_type[]" value="rare-diseases" /> <input type="hidden" name="post_type[]" value="gard-rare-disease" /> <input type="submit" value="Search" class="button" /> </form> <p class="mt-3 mb0"><em>Interested in exploring the database in detail?<br/><a href="https://rarediseases.org/rare-diseases/?filter_by=letter&starts_with=0-9">Click here to explore the database in alphabetical order.</a></em></p> </div> <style> /* CSS for suggestions dropdown */ #rdb-search { position: relative; } #search-suggestions { border: 1px solid #ccc; background: #fff; max-height: 200px; top:100%; width:100%; overflow-y: auto; position: absolute; z-index: 1000; } .suggestion { padding: 8px; cursor: pointer; } .suggestion:hover { background: #f0f0f0; } </style> <div class="reports-anchor-nav"> <ul class="hide-mobile"> <li data-section="disease-overview" class="current-section">Disease Overview</li> <li data-section="synonyms">Synonyms</li> <li data-section="symptoms">Signs & Symptoms</li> <li data-section="causes">Causes</li> <li data-section="affected">Affected Populations</li> <li data-section="related-disorders">Disorders with Similar Symptoms</li> <li data-section="diagnosis">Diagnosis</li> <li data-section="therapies">Standard Therapies</li> <li data-section="investigational-therapies">Clinical Trials and Studies</li> <li data-section="resources">Resources</li> <li data-section="references">References</li> <li data-section="program-resources"> Programs & Resources</li> <li data-section="complete-report">Complete Report</li> </ul> <select class="hide-desktop" style="height:40px; width:100%; border-radius: 4px;"> <option value="disease-overview">Disease Overview</option> <option value="synonyms">Synonyms</option> <option value="symptoms">Signs & Symptoms</option> <option value="causes">Causes</option> <option value="affected">Affected Populations</option> <option value="related-disorders">Disorders with Similar Symptoms</option> <option value="diagnosis">Diagnosis</option> <option value="therapies">Standard Therapies</option> <option value="investigational-therapies">Clinical Trials and Studies</option> <option value="resources">Resources</option> <option value="references">References</option> <option value="program-resources">Programs & Resources</option> <option value="complete-report">Complete Report</option> </select> </div> </div> <section> <div> <div class="lang-toggle-wrap"><span><em><strong>Select language / seleccionar idioma: </strong></em></span><div class="language-switcher"><select class="language-select"><option value="https://rarediseases.org/rare-diseases/paroxysmal-nocturnal-hemoglobinuria/" hreflang="en" selected disabled>English</option><option value="https://rarediseases.org/es/rare-diseases/hemoglobinuria-paroxistica-nocturna/" hreflang="es">Spanish</option></select></div></div> <div class="headline-wrapper"> <h1 class="single-headline">Paroxysmal Nocturnal Hemoglobinuria</h1> <a href="#" class="full-report print-link more-link js-print-link color-br-blue">Print</a> </div> <div> <p> <em>Last updated: 05/29/2024 </em> <br/> <em>Years published: 1989, 1994, 1996, 1997, 2003, 2004, 2005, 2007, 2011, 2014, 2016, 2019, 2023</em> </p> <hr/> </div> <div class="acknowledgment med-mt"> <h4 class="content-headline bd-f-med">Acknowledgment</h4> <p>NORD gratefully acknowledges Charles J. Parker, MD, Professor of Medicine, Division of Hematology and Hematologic Malignancies, Spenser Fox Eccles School of Medicine at the University of Utah, for assistance in the preparation of this report.</p> </div> <hr/> <div id="rdb-report-section-wrap"> <div class="nord-report-section" id="disease-overview"> <h3 class="content-headline body-font bd-f-lg f-bold">Disease Overview</h3> <p>Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disorder in which red blood cells break apart prematurely. It is an acquired hematopoietic stem cell disorder. Hematopoietic stem cells are created in the bone marrow, the spongy center of the long bones of the body. These cells grow and eventually develop into red blood cells, white blood cells and platelets. Some hematopoietic stem cells in individuals with PNH are defective and consequently produce defective blood cells. These defective red blood cells of PNH are extremely susceptible to premature destruction by a particular part of a person’s own immune system called the complement system. The destruction of red blood cells (hemolysis) by complement leads to episodes of hemoglobin in the urine (hemoglobinuria). Hemoglobin is the red, iron-rich, oxygen-containing pigment of the blood. Individuals with hemoglobinuria may exhibit dark-colored or blood colored urine. This finding is most prominent in the morning, after the urine has concentrated overnight during sleep. However, hemolysis in individuals with PNH is a constant process (i.e., it does not occur only at night). Hemoglobin in the urine may not always be visible. In addition to hemolysis, individuals with PNH are also susceptible to developing repeated, potentially life-threatening blood clots (thromboses). Affected individuals also have some degree of underlying bone marrow dysfunction. Severe bone marrow dysfunction results in low levels of red and white blood cells and platelets (pancytopenia). The specific symptoms of PNH vary greatly from one person to another and affected individuals usually do not exhibit all the symptoms associated with the disorder.</p> <ul class="inline-buttons"> <li> <a class="button full-report" href="#">View Full Report</a> <a class="button less-report" style="display: none;" href="#">Show Less</a> <li> <a href="#" class="full-report print-link js-print-link button">Print / Download as PDF</a> </li> </ul> <ul class="section-nav"> <li></li> <li class="section-next">Next section ></li> </ul> </div> <div class="nord-report-section" id="synonyms"> <ul class="section-nav"> <li class="section-prev">< Previous section</li> <li class="section-next">Next section ></li> </ul> <h3 class="content-headline body-font bd-f-lg f-bold">Synonyms</h3> <ul> <li>PNH</li> </ul> <ul class="section-nav"> <li class="section-prev">< Previous section</li> <li class="section-next">Next section ></li> </ul> </div> <div class="nord-report-section" id="symptoms"> <ul class="section-nav"> <li class="section-prev">< Previous section</li> <li class="section-next">Next section ></li> </ul> <h3 class="content-headline body-font bd-f-lg f-bold">Signs & Symptoms</h3> <p>The symptoms of PNH occur because of the production of defective blood cells and because the bone marrow does not produce enough blood cells. The specific symptoms and progression of the disorder vary greatly from one person to another. Some individuals may have mild symptoms that remain stable for many years; others may have serious symptoms that can progress to cause life-threatening complications.</p> <p>It is important to note that affected individuals may not have all the symptoms discussed below. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.</p> <p>The premature destruction of red blood cells (hemolysis) is the primary clinical finding associated with PNH. Hemolysis may result in hemoglobin in the urine, although many individuals with hemolysis do not have visible hemoglobin in the urine. When hemolysis occurs, a red blood cell’s outer wall (membrane) breaks down (lysis) releasing hemoglobin. Hemoglobin is excreted from the body in the urine, resulting in the dark-colored or blood colored urine (hemoglobinuria) that is characteristic of this disorder. Hemolysis is ongoing, but may worsen (i.e., a person may have a hemolytic episode) during periods of infection, trauma or stress. The premature destruction of red blood cells may result in low levels of circulating red blood cells (hemolytic anemia) that is made worse by the underlying bone marrow dysfunction.</p> <p>Chronic hemolysis is central to all the symptoms and physical findings associated with PNH. Mild hemolysis can cause fatigue, rapid heartbeat, headaches, chest pain and difficulty breathing when exercising. If hemolysis is severe, additional symptoms can develop, including disabling fatigue, difficulty swallowing (dysphagia) and painful contractions that affect the abdomen, the esophagus (esophageal spasms) and, in men, can cause erectile dysfunction and impotence. Chronic hemolysis can also lead to the development of blood clots and some affected individuals may develop acute and chronic kidney (renal) disease.</p> <p>Approximately 15-30 percent of individuals with PNH develop blood clots, especially in the veins (venous thrombosis). The exact reason individuals with PNH develop blood clots is not fully understood. In addition to red blood cells, defective hematopoietic stem cells may also produce defective platelets. Some researchers believe that these defective platelets are abnormally prone to forming blood clots. Chronic hemolysis may also contribute to the development of blood clots. Blood clots can be carried via the bloodstream to various areas of the body, potentially resulting in life-threatening complications. Blood clots may reduce or cut off blood flow to various organs, especially the stomach, liver, and brain. The specific symptoms associated with venous thrombosis depend upon the specific area of the body affected. For example, blood clots affecting the liver may result in jaundice, abdominal pain, or, potentially, a condition known as Budd-Chiari syndrome (for more information, see the Related Disorders section below). Blood clots affecting the stomach and bowels may result in a sharp pain in the abdomen or a bloated or full feeling. Blood clots affecting cerebral veins may cause symptoms such as headaches or problems with cognition (thinking). Blood clots in the lungs can result in shortness of breath, difficulty breathing and heart palpitations. In rare cases, blood clots may form in the arteries. Blood clots can potentially cause life-threatening complications by cutting off blood flow to vital organs.</p> <p>All patients with PNH have some degree of bone marrow dysfunction. Individuals with mild bone marrow dysfunction may not have any symptoms or only mild symptoms. Individuals with severe bone marrow dysfunction may have low levels of red and white blood cells and platelets (pancytopenia). Red blood cells deliver oxygen to the body, white blood cells help in fighting off infections and platelets allow the body to form clots to stop bleeding. A low level of circulating red blood cells is known as anemia. A low level of white blood cells is known as leukopenia. A low level of platelets is known as thrombocytopenia.</p> <p>Individuals with anemia may experience tiredness, increased need for sleep, weakness, lightheadedness, dizziness, irritability, headaches, pale skin color, difficulty breathing (dyspnea) and cardiac symptoms, including chest pain. Individuals with leukopenia have an increased risk of contracting bacterial and fungal infections. Individuals with thrombocytopenia are more susceptible to excessive bruising following minimal injury and spontaneous bleeding from the mucous membranes, especially those of the gums and nose. Women may develop increased menstrual blood loss (menorrhagia).</p> <p>Many individuals with PNH may simultaneously have another, closely related disorder known as acquired aplastic anemia. To a lesser extent, some individuals may have myelodysplasia. Although the exact relationship among these disorders is unknown, researchers now believe that PNH arises from autoimmune bone marrow failure, which is the cause of most cases of acquired aplastic anemia and some cases of myelodysplasia. In rare cases, PNH may eventually develop into acute leukemia. The reason for this transformation is unknown. (For more information on these disorders, see the Related Disorders section below.)</p> <ul class="section-nav"> <li class="section-prev">< Previous section</li> <li class="section-next">Next section ></li> </ul> </div> <div class="nord-report-section" id="causes"> <ul class="section-nav"> <li class="section-prev">< Previous section</li> <li class="section-next">Next section ></li> </ul> <h3 class="content-headline body-font bd-f-lg f-bold">Causes</h3> <p>Two factors are necessary for the development of PNH: an acquired somatic mutation of the <em>PIGA</em> gene, which affects one or more hematopoietic stem cells creating defective “PNH” blood cells, and a process that leads to the multiplication and expansion of these defective stem cells. Most likely, PNH arises in the setting of autoimmune bone marrow failure, as occurs in most cases of acquired aplastic anemia. Researchers believe that defective PNH stem cells survive the misguided attack by the immune system and multiply, while healthy stem cells are destroyed, resulting in the development of PNH. The reason that defective cells survive while healthy cells are destroyed is incompletely understood but appears to be due to properties of the PNH cell that provide a survival advantage in the setting of immune-mediated attack on the bone marrow.</p> <p>The mutation in the <em>PIGA</em> gene is a somatic mutation, which means that it occurs after conception; it is not inherited and is not passed on to children. This mutation occurs randomly, for no apparent reason (sporadically). In PNH, this mutation occurs in a single hematopoietic stem cell (clonal disorder), which then multiplies and expands. The reason why PNH cells expand and multiply is not fully understood. Researchers believe that other factors such as secondary gene mutations or immune factors may be necessary for PNH cells to expand and multiply. Therefore, although the <em>PIGA</em> mutation is necessary for the development of PNH, its presence alone is not sufficient to cause the disorder. In a few cases, this additional factor has been shown to be a second somatic mutation (other than <em>PIGA</em>) that gives the mutant cell a growth advantage.</p> <p>The <em>PIGA</em> gene produces a protein that is essential to the creation (biosynthesis) of glycosyl phosphatidylinositol (GPI) anchors. These anchors allow some proteins to attach to a cell’s membrane. These proteins are called GPI-anchored proteins. In cells with a <em>PIGA</em> gene mutation, the GPI anchors are not formed, and, consequently, GPI-anchored proteins cannot attach to the cells’ membranes. Some of these GPI-anchored proteins serve to protect cells from the immune system. Consequently, a lack of these surface proteins renders “PNH” blood cells extremely susceptible to destruction by a part of the immune system known as the complement system.</p> <p>The complement system is a complex group of proteins that work together to fight infection in the body. These proteins respond to bacteria, viruses or other foreign substances in the body. They work with white blood cells to destroy foreign material in the body. In individuals with PNH, the complement system mistakenly destroys “PNH” blood cells due to the lack of GPI-anchored proteins that normally protect blood cells from the activity of the complement system.</p> <ul class="section-nav"> <li class="section-prev">< Previous section</li> <li class="section-next">Next section ></li> </ul> </div> <div class="nord-report-section" id="affected"> <ul class="section-nav"> <li class="section-prev">< Previous section</li> <li class="section-next">Next section ></li> </ul> <h3 class="content-headline body-font bd-f-lg f-bold">Affected populations</h3> <p>PNH is believed to affect males and females in equal numbers, although some studies show a slightly more females affected. The prevalence is estimated to be between 0.5-1.5 per million people in the general population. The disorder has been described in people of many ethnic backgrounds and has been identified in all areas of the world. The disorder may occur with greater frequency in individuals from Southeast Asia or the Far East who experience greater rates of aplastic anemia. The disorder can affect any age group. The median age at diagnosis is during the 30s.</p> <p>PNH was first reported in the medical literature in the latter half of the 19th century. The disorder was termed paroxysmal nocturnal hemoglobinuria because of the mistaken belief that hemolysis and subsequent hemoglobinuria occurred only in intermittent episodes (paroxysmally) and with greater frequency during the night (nocturnal). However, while hemoglobinuria may appear paroxysmally, hemolysis is ongoing both during the day and at night.</p> <ul class="section-nav"> <li class="section-prev">< Previous section</li> <li class="section-next">Next section ></li> </ul> </div> <div class="nord-report-section" id="related-disorders"> <ul class="section-nav"> <li class="section-prev">< Previous section</li> <li class="section-next">Next section ></li> </ul> <h3 class="content-headline body-font bd-f-lg f-bold">Disorders with Similar Symptoms</h3> <p>Symptoms of the following disorders can be similar to those of PNH. Comparisons may be useful for a differential diagnosis.</p> <p>PNH and acquired aplastic anemia are closely related disorders, while PNH can also occur in association with low grade forms of myelodysplasia such as refractory anemia. Individuals with PNH may have acquired aplastic anemia or myelodysplasia at the same time. Researchers believe that PNH may arise out of autoimmune bone marrow failure, which causes most cases of acquired aplastic anemia and some cases of myelodysplasia.</p> <p>Acquired aplastic anemia is a rare disorder caused by profound, almost complete bone marrow failure. Bone marrow is the spongy substance found in the center of the long bones of the body. The bone marrow produces specialized cells (hematopoietic stem cells) that grow and eventually develop into red blood cells (erythrocytes), white blood cells (leukocytes) and platelets. In acquired aplastic anemia, an almost complete absence of hematopoietic stem cells eventually results in low levels of red and white blood cells and platelets (pancytopenia). Specific symptoms associated with acquired aplastic anemia may vary, but include fatigue, recurrent infections, dizziness, weakness, headaches and episodes of excessive bleeding. Most cases of acquired aplastic anemia occur for unknown reasons (idiopathic), although researchers now believe that most of these cases result from the immune system mistakenly targeting the bone marrow (autoimmunity). (For more information on this disorder, choose “acquired aplastic anemia” as your search term in the Rare Disease Database.)</p> <p>Myelodysplastic syndrome (myelodysplasia) is a rare group of blood disorders that occur because of improper development of blood cells within the bone marrow. The three main types of blood cells (i.e., red blood cells, white blood cells and platelets) are affected. Red blood cells deliver oxygen to the body, white blood cells help fight infections, and platelets assist in clotting to stop blood loss. These improperly developed blood cells fail to develop normally and enter the bloodstream. As a result, individuals with MDS have abnormally low blood cell levels (low blood counts). General symptoms associated with MDS include fatigue, dizziness, weakness, bruising and bleeding, frequent infections, and headaches. In some cases, MDS may progress to life-threatening failure of the bone marrow or develop into an acute leukemia. The exact cause of MDS is unknown, but in approximately 90 percent of patients, acquired (somatic) genetic abnormalities can be identified in the bone marrow cells. No specific environmental risk factors have been identified. (For more information on this disorder, choose “myelodysplastic syndromes” as your search term in the Rare Disease Database.)</p> <p>Rarely, individuals with PNH may develop leukemia, which is a form of cancer affecting the bone marrow and blood. It is characterized by the uncontrolled accumulation of immature blood cells. Acute forms of leukemia may result in low levels of red and white blood cells and platelets (pancytopenia) or in a high white blood cell count (leukocytosis) with low levels of red cells and platelets.</p> <p>Paroxysmal cold hemoglobinuria is a rare autoimmune hemolytic disorder characterized by the premature destruction of healthy red blood cells (hemolysis) minutes to hours after exposure to cold. Autoimmune diseases occur when the body’s natural defenses against invading organisms mistakenly destroy healthy tissue for unknown reasons. Normally, red blood cells have a life span of approximately 120 days. In an individual affected with paroxysmal cold hemoglobinuria, the red blood cells are destroyed prematurely and suddenly by an antibody mediated process upon exposure to temperatures of 10 to 15 degrees Centigrade and below. (For more information on this disorder, choose “paroxysmal cold hemoglobinuria” as your search term in the Rare Disease Database.)</p> <p>The following disorders may be associated with PNH as secondary characteristics. They are not necessary for a differential diagnosis:</p> <p>Budd-Chiari syndrome is a rare disorder characterized by narrowing and obstruction (occlusion) of the veins of the liver (hepatic veins). In individuals with PNH, blood clots (thromboses) block the hepatic veins. Symptoms associated with Budd Chiari syndrome include pain in the upper right part of the abdomen, an abnormally large liver (hepatomegaly) and/or accumulation of fluid (ascites) in the space between the two layers of the membrane that lines the stomach (peritoneal cavity). Additional findings that may be associated with the disorder include nausea, vomiting and/or an abnormally large spleen (splenomegaly). The severity of the disorder varies from person to person, depending upon the site and number of affected veins. In some cases, if the major hepatic veins are involved, high blood pressure in the veins carrying blood from the gastrointestinal (GI) tract back to the heart through the liver (portal hypertension) may be present. (For more information on this disorder, choose “Budd-Chiari” as your search term in the Rare Disease Database.)</p> <ul class="section-nav"> <li class="section-prev">< Previous section</li> <li class="section-next">Next section ></li> </ul> </div> <div class="nord-report-section" id="diagnosis"> <ul class="section-nav"> <li class="section-prev">< Previous section</li> <li class="section-next">Next section ></li> </ul> <h3 class="content-headline body-font bd-f-lg f-bold">Diagnosis</h3> <p>A diagnosis of PNH may be suspected in individuals who have symptoms of intravascular hemolysis (e.g., hemoglobinuria, abnormally high serum LDH concentration) with no known cause. A diagnosis may be made based upon a thorough clinical evaluation, a detailed patient history and a variety of specialized tests. The main diagnostic test for individuals with suspected PNH is flow cytometry, a blood test that can identify PNH cells (blood cells that are missing GPI-anchored proteins).</p> <ul class="section-nav"> <li class="section-prev">< Previous section</li> <li class="section-next">Next section ></li> </ul> </div> <div class="nord-report-section" id="therapies"> <ul class="section-nav"> <li class="section-prev">< Previous section</li> <li class="section-next">Next section ></li> </ul> <h3 class="content-headline body-font bd-f-lg f-bold">Standard Therapies</h3> <p><strong>Treatment</strong></p> <p>The treatment of PNH is directed at the specific symptoms that are present in each individual and includes a variety of different therapeutic options.</p> <p>In 2007, the U.S. Food and Drug Administration (FDA) approved eculizumab (Soliris) as a treatment for PNH. This is the first drug to be approved for this disorder. Eculizumab does not cure PNH but halts the breakdown of red blood cells and can reduce the risk of thrombosis and improve overall quality of life. Eculizumab works by blocking the complement system of the body that inadvertently destroys PNH red blood cells. Because it blocks part of the body’s natural immune system, eculizumab increases the risk of meningococcal infections. Therefore, patients must be vaccinated with a meningococcal vaccine at least two weeks prior to receiving the first dose of eculizumab. In 2009, Canada’s national healthcare regulatory agency, Health Canada, approved eculizumab (Soliris) for the treatment of patients in Canada with PNH.</p> <p>In 2018, the FDA approved ravulizumab (Ultomiris) for treatment of the hemolysis of PNH. Ravulizumab works in a manner identical to eculizumab and was shown to be clinically non-inferior to eculizumab. Ravulizumab is given every eight weeks, whereas eculizumab is given every two weeks.</p> <p>In 2021, the FDA approved pegcetacoplan (Empaveli) to treat adults with PNH. Compared to eculizumab and ravulizumab that block the fifth component of complement (C5), pegcetacoplan blocks the third component of complement (C3). Consequently, pegcetacoplan blocks both extravascular hemolysis and intravascular hemolysis, whereas eculizumab and ravulizumab block intravascular hemolysis but not extravascular hemolysis. Patients who remain anemic (particularly if transfusions are required) due to extravascular hemolysis despite treatment with eculizumab or ravulizumab may benefit from treatment with pegcetacoplan. Pegcetacoplan is given as a self-administered subcutaneous infusion two or in some cases, three times per week.</p> <p>In 2024, the FDA approved eculizumab-aeeb (Bkemv) as the first interchangeable biosimilar to eculizumab to treat PNH. Like with eculizumab (Soliris), this medication increases the risk of meningococcal infections so patients must be vaccinated with a meningococcal vaccine at least two weeks prior to receiving the first dose.</p> <p>Additional treatment for PNH is symptomatic and supportive and varies depending upon the individual’s age, general health, presence of associated disorders, severity of PNH and degree of underlying bone marrow failure.</p> <p>Some individuals with PNH receive folic acid (folate) supplements to ensure that the supply of folate is adequate as demand increases when the bone marrow attempts to compensate for the hemolytic anemia of PNH by augmenting red blood cell production (erythropoiesis) in the bone marrow. Supplemental iron should be given to individuals with iron deficiency, which can occur because of red blood cell destruction and the consequent loss of iron in the urine.</p> <p>Some physicians suggest that individuals exhibiting symptoms of hemolysis should receive treatment with steroids such as prednisone because it is believed that such treatment slows the rate of destruction of red blood cells. However, treatment with steroids such as prednisone is controversial because steroid therapy is not beneficial to everyone and carries the potential for serious side effects, especially if the therapy is continued for a long duration.</p> <p>The administration of drugs that block the formation of blood clots (anticoagulation therapy) may be prescribed. Some individuals may be placed on long-term anticoagulant therapy. Use of blood thinners must be strictly managed because of the risk of excessive bleeding due to low platelet numbers in some individuals.</p> <p>Individuals with Budd-Chiari syndrome may be treated by thrombolytic therapy, in which certain drugs are used to breakdown or dissolve blood clots. Such treatment requires experience in managing the potential side-effects these drugs as the risk of adverse events (particularly bleeding) is substantial.</p> <p>The only curative therapy for individuals with PNH is bone marrow transplantation. However, because of the risk of morbidity and mortality, it is reserved for individuals with serious complications such as severe bone marrow failure or repeated, life-threatening blood clot formation. The specific form of bone marrow transplantation used most often in treating PNH is an allogeneic bone marrow transplant. During an allogeneic bone marrow transplant, an affected individual’s bone marrow is destroyed usually by chemotherapy, immunotherapy, radiation or some combination and replaced with healthy marrow obtained from a donor. The donor marrow is transplanted intravenously into the body where it travels to the bone marrow and eventually begins producing new blood cells. The best match for a bone marrow transplant is a sibling with an identical HLA type. However, in some individuals, a search for an unrelated, matched donor is necessary. Bone marrow transplantation can cure underlying bone marrow dysfunction and can eliminate the defective PNH stem cells.</p> <p>Drug treatments for the hemolysis of PNH have no effect on the underlying bone marrow dysfunction that affects many people with PNH. Individuals who have severe bone marrow failure may be treated with immunosuppressive therapy. Individuals with acquired aplastic anemia have responded favorably to this form of treatment, in which certain drugs are used to suppress the activity of the immune system. This form of treatment may be beneficial in cases of PNH that are dominated by bone marrow failure. While the immunosuppressive therapy can restore bone marrow function, it does not eradicate the PNH clone. The two most commonly used immunosuppressive agents, given alone or in combination, are antithymocyte globulin (ATG), cyclosporin and eltrombopag.</p> <p>Some individuals with PNH with low blood cell counts may receive treatment with blood transfusions. This treatment consists of giving red blood cell transfusions to correct anemia, platelet transfusions to treat or prevent serious bleeding and antibiotics to treat or prevent infections. Affected individuals who are eligible for a bone marrow transplant should not, if possible, receive blood transfusions because blood transfusions reduce the chances of a successful transplant.</p> <p>Some individuals with PNH may receive treatment with manmade (synthetic) growth factors. Growth factors are proteins normally found in the body that stimulate the bone marrow to produce blood cells. Erythropoietin (EPO) is a growth factor produced by the kidneys that stimulates the bone marrow to create red blood cells. Epogen, Procrit and Aranesp are forms of erythropoietin. Therapy with red blood cell growth factors may lessen the need for blood transfusions.</p> <p>Individuals with PNH who have low levels of white blood cells may receive growth factors such as granulocyte-colony stimulating factor (G-CSF) that stimulate the bone marrow to make granulocytes (a type of white blood cell that fights bacterial infections).</p> <p>Some individuals with PNH may receive treatment with androgens, which are male hormones that stimulate the bone marrow to produce red blood cells. Androgen therapy, such as danazol, may help to improve the symptoms of anemia.</p> <ul class="section-nav"> <li class="section-prev">< Previous section</li> <li class="section-next">Next section ></li> </ul> </div> <div class="nord-report-section" id="investigational-therapies"> <ul class="section-nav"> <li class="section-prev">< Previous section</li> <li class="section-next">Next section ></li> </ul> <h3 class="content-headline body-font bd-f-lg f-bold">Clinical Trials and Studies</h3> <p>A number of new complement inhibitors for treatment of PNH are undergoing clinical trials in humans. Some of these new therapeutic agents work like eculizumab and ravulizumab by blocking the 5th component of complement and some inhibit complement at other sites.</p> <p>Iptacopan has received FDA breakthrough designation for treatment of PNH and has recently shown favorable efficacy and safety results in a phase III study compared to eculizumab or ravulizumab in PNH patients with residual anemia. Iptacopan is an oral inhibitor of complement factor B (fB), an essential component of the alternative pathway of complement (the part of the complement system that initiates hemolysis of PNH red blood cells).Therefore, by blocking factor B, complement activation on PNH erythrocytes is inhibited, preventing both extravascular and intravascular hemolysis.</p> <p>Information on current clinical trials is posted on the Internet at <a href="https://www.clinicaltrials.gov/">www.clinicaltrials.gov</a>. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.</p> <p>For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:</p> <p>Toll-free: (800) 411-1222<br /> TTY: (866) 411-1010<br /> Email: <a href="/cdn-cgi/l/email-protection#91e1e3e1fdd1f2f2bffff8f9bff6fee7"><span class="__cf_email__" data-cfemail="a2d2d0d2cee2c1c18ccccbca8cc5cdd4">[email protected]</span></a></p> <p>Some current clinical trials also are posted on the following page on the NORD website:<br /> <a href="https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/">https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/</a></p> <p>For information about clinical trials sponsored by private sources, in the main, contact:<br /> <a href="https://www.centerwatch.com/">www.centerwatch.com</a></p> <p>For more information about clinical trials conducted in Europe, contact: <a href="https://www.clinicaltrialsregister.eu/">https://www.clinicaltrialsregister.eu/</a><br /> Contact for additional information about paroxysmal nocturnal hemoglobinuria:</p> <p>Charles J. Parker, MD<br /> Professor of Medicine<br /> Division of Hematology and Hematologic Malignancies<br /> University of Utah School of Medicine<br /> email: <a href="/cdn-cgi/l/email-protection#2c6f444d5e40495f027c4d5e47495e6c445f4f0259584d4402494859"><span class="__cf_email__" data-cfemail="1a59727b68767f69344a7b68717f685a726979346f6e7b72347f7e6f">[email protected]</span></a></p> <ul class="section-nav"> <li class="section-prev">< Previous section</li> <li class="section-next">Next section ></li> </ul> </div> <div class="nord-report-section" id="resources"> <ul class="section-nav"> <li class="section-prev">< Previous section</li> <li class="section-next">Next section ></li> </ul> <h3 class="content-headline body-font bd-f-lg f-bold">Resources</h3> <p>Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder.</p> <ul class="section-nav"> <li class="section-prev">< Previous section</li> <li class="section-next">Next section ></li> </ul> </div> <div class="nord-report-section" id="references"> <ul class="section-nav"> <li class="section-prev">< Previous section</li> <li class="section-next">Next section ></li> </ul> <h3 class="content-headline body-font bd-f-lg f-bold">References</h3> <p>TEXTBOOKS</p> <p>Parker CJ, Ware RE. Paroxysmal Nocturnal Hemoglobinuria. In: Wintrobes Clinical Hematology, 14th ed. Greer JP, Rodgers GM, Glader B, et al., eds. 2019 Wolters Kluwer. Philadelphia, PA. pp. 783-822.</p> <p>Parker CJ. Paroxysmal Nocturnal Hemoglobinuria. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:389-390.</p> <p>JOURNAL ARTICLES</p> <p>Parker, CJ. Update on the diagnosis and management of PNH. Hematology Am Soc Hematol Educ Program. 2016; 208-16. <a href="https://www.ncbi.nlm.nih.gov/pubmed/27913482">https://www.ncbi.nlm.nih.gov/pubmed/27913482</a></p> <p>Luzzatto L. Recent advances in the pathogenesis and treatment of paroxysmal nocturnal hemoglobinuria. F1000Res. 2016;F1000 Faculty Rev-209. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4765720/">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4765720/</a></p> <p>Loschi M, Porcher R, Barraco F, et al. Impact of eculizumab treatment on paroxysmal nocturnal hemoglobinuria: a treatment versus no-treatment study. Am J Hematol. 2016;91:366-370. <a href="https://www.ncbi.nlm.nih.gov/pubmed/26689746">https://www.ncbi.nlm.nih.gov/pubmed/26689746</a></p> <p>DeZern AE, Brodsky RA. Paroxysmal nocturnal hemoglobinuria: a complement-mediated hemolytic anemia. Hematol Oncol Clin North Am. 2015;29:479-494. <a href="https://www.ncbi.nlm.nih.gov/pubmed/26043387">https://www.ncbi.nlm.nih.gov/pubmed/26043387</a></p> <p>Devalet B, Mullier F, Chatelain B, Dogne JM, Chatelain C. Pathophysiology, diagnosis, and treatment of paroxysmal nocturnal hemoglobinuria: a review. Eur J Haematol. 2015;95:190-198. <a href="https://www.ncbi.nlm.nih.gov/pubmed/25753400">https://www.ncbi.nlm.nih.gov/pubmed/25753400</a></p> <p>Parker CJ. Paroxysmal nocturnal hemoglobinuria. Curr Opin Hematol. 2012;19:141-148. <a href="https://www.ncbi.nlm.nih.gov/pubmed/22395662">https://www.ncbi.nlm.nih.gov/pubmed/22395662</a></p> <p>Hill A, Rother RP, Arnold L, et al. Eculizumab prevents intravascular hemolysis in patients with paroxysmal nocturnal hemoglobinuria and unmasks low level extravascular hemolysis occurring through C3 opsonization. Haematologica. 2010;95:567-573. <a href="https://www.ncbi.nlm.nih.gov/pubmed/20145265">https://www.ncbi.nlm.nih.gov/pubmed/20145265</a></p> <p>Brodsky RA. How I treat paroxysmal nocturnal hemoglobinuria. Blood. 2009;113:6522-6527. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2710914/">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2710914/</a></p> <p>Brodsky RA. Advances in the diagnosis and therapy of paroxysmal nocturnal hemoglobinuria. Blood Rev. 2008;22:65-74. <a href="https://www.ncbi.nlm.nih.gov/pubmed/18063459">https://www.ncbi.nlm.nih.gov/pubmed/18063459</a></p> <p>Hill A, Richards SJ, Hillmen P. Recent developments in the understanding and management of paroxysmal nocturnal hemoglobinuria. Br J Haematol. 2007;137:181-192. <a href="https://www.ncbi.nlm.nih.gov/pubmed/17408457">https://www.ncbi.nlm.nih.gov/pubmed/17408457</a></p> <p>Hillmen P, Young NS, Schubert J, et al. The complement inhibitor eculizumab in paroxysmal nocturnal hemoglobinuria. N Engl J Med. 2006;355:1233-1243. <a href="https://www.ncbi.nlm.nih.gov/pubmed/16990386">https://www.ncbi.nlm.nih.gov/pubmed/16990386</a></p> <p>Parker C, Omine M, Richards S, et al. Diagnosis and management of paroxysmal nocturnal hemoglobinuria. Blood. 2005;106:3699-3709. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1895106/">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1895106/</a></p> <p>Meyers G, Parker CJ. Management issues in paroxysmal nocturnal hemoglobinuria. Int J Hematol. 2003;77:125-132. <a href="https://www.ncbi.nlm.nih.gov/pubmed/12627847">https://www.ncbi.nlm.nih.gov/pubmed/12627847</a></p> <p>ABSTRACT</p> <p>De Latour RP, Roeth A, Kulasekararaj A, et al. Oral monotherapy with iptacopan, a proximal complement inhibitor of factor B, has superior efficacy to intravenous terminal complement inhibition with standard of care eculizumab or ravulizumab and favorable safety in patients with paroxysmal nocturnal hemoglobinuria and residual anemia: results from the randomized, active-comparator-controlled, open-label, multicenter, phase III APPLY-PNH study. Late-breaking abstract presented at: Annual Meeting of the American Society of Hematology; December 2022). <a href="https://ashpublications.org/blood/article/140/Supplement%202/LBA-2/493431/Oral-Monotherapy-with-Iptacopan-a-Proximal">https://ashpublications.org/blood/article/140/Supplement%202/LBA-2/493431/Oral-Monotherapy-with-Iptacopan-a-Proximal</a></p> <p>INTERNET</p> <p>Paroxysmal Nocturnal Hemoglobinuria. Genetics Home Reference. Last updated February 24, 2022. Available at: <a href="https://ghr.nlm.nih.gov/condition/paroxysmal-nocturnal-hemoglobinuria">https://ghr.nlm.nih.gov/condition/paroxysmal-nocturnal-hemoglobinuria</a> Accessed Jan 5, 2023</p> <ul class="section-nav"> <li class="section-prev">< Previous section</li> <li class="section-next">Next section ></li> </ul> </div> <div class="nord-report-section" id="program-resources"> <ul class="section-nav" style="display: none;"> <li class="section-prev">< Previous section</li> </ul> <h2 class="content-headline bd-f-lg">Programs & Resources</h2><ul class="tabs"> <li data-id="assistance" class="report-tab active"><a href="#">Assistance Programs</a></li> <li data-id="orgs" class="report-tab"><a href="#">Patient Organizations</a></li><li data-id="mondo_id" class="report-tab"><a href="#">More Information</a></li></ul><section data-id="assistance" class="active rdd-single-section"><div class="d-flex align-items-end mb-2"><img width="300" height="105" src="https://rarediseases.org/wp-content/uploads/2024/01/NRD-1128-RareCare_Logo2lines_RGB-1-300x105.png" class="mr-1" alt="RareCare logo in two lines." decoding="async" srcset="https://rarediseases.org/wp-content/uploads/2024/01/NRD-1128-RareCare_Logo2lines_RGB-1-300x105.png 300w, https://rarediseases.org/wp-content/uploads/2024/01/NRD-1128-RareCare_Logo2lines_RGB-1.png 691w" sizes="(max-width: 300px) 100vw, 300px" /><h3 class="body-font f-bold mb0">RareCare<sup>®</sup> Assistance Programs</h3></div><div class="rd-resources nord-ajax-results-rdd sm-mb"> <div class="single-rd-resource" id="patient-assistance-program-43"> <div class="single-rd-resource-headline">  <h5 class="body-font"> <span class="color-br-black">Paroxysmal Nocturnal Hemoglobinuria (PNH) Medical Assistance</span> </h5> <div class="xs-mt"> <span><em>Temporarily Waitlisting</em></span> </div> </div> <div class="resource-contact-details"> <span class="phone"> <span>Phone:</span> <a href="tel:855-567-3814"> 855-567-3814 </a> </span> <span class="email"> <span>Email:</span> <a href="/cdn-cgi/l/email-protection#c7b7a9af87b5a6b5a2a3aeb4a2a6b4a2b4e9a8b5a0"> <span class="__cf_email__" data-cfemail="3a4a54527a485b485f5e53495f5b495f491455485d">[email protected]</span> </a> </span> <span class="fax"> <span>Fax:</span> 203-517-4297 </span> </div> <div class="rd-details xs-mb"> <span class="rare-diseases w-100"> <span>Related Rare Diseases:</span> <a href="https://rarediseases.org/rare-diseases/paroxysmal-nocturnal-hemoglobinuria/">Paroxysmal Nocturnal Hemoglobinuria</a>, <a href="https://rarediseases.org/rare-diseases/paroxysmal-nocturnal-hemoglobinuria/">Hemoglobinuria paroxística nocturna</a>, <a href="https://rarediseases.org/rare-diseases/prrt2-associated-paroxysmal-movement-disorders/">PRRT2-Associated Paroxysmal Movement Disorders</a><span> ...</span> </span> </div> <div class="rd-details xs-mb"> <span class="resources w-100"> <span>Resource(s):</span> <a href="https://applications.rarediseases.org/Data/GetFile?guid=1e972068466f4dca8daa2c48bb73520f">PNH-PAP</a> </span> </div> </div> <div class="single-rd-resource" id="patient-assistance-program-178"> <div class="single-rd-resource-headline">  <h5 class="body-font"> <a href="https://applications.rarediseases.org/Home/WebEnroll?pId=178" target="_blank" class="patient-assistance-app-link" data-title="Paroxysmal Nocturnal Hemoglobinuria (PNH) Emergency Relief"> Paroxysmal Nocturnal Hemoglobinuria (PNH) Emergency Relief </a> </h5> <div class="xs-mt"> <span><em>Accepting Applications</em></span> </div> </div> <div class="resource-contact-details"> <span class="phone"> <span>Phone:</span> <a href="tel:855-567-3814"> 855-567-3814 </a> </span> <span class="email"> <span>Email:</span> <a href="/cdn-cgi/l/email-protection#bacad4d2fac8dbc8dfded3c9dfdbc9dfc994d5c8dd"> <span class="__cf_email__" data-cfemail="03736d6b4371627166676a7066627066702d6c7164">[email protected]</span> </a> </span> <span class="fax"> <span>Fax:</span> 203-517-4297 </span> </div> <div class="rd-details xs-mb"> <span class="rare-diseases w-100"> <span>Related Rare Diseases:</span> <a href="https://rarediseases.org/rare-diseases/paroxysmal-nocturnal-hemoglobinuria/">Paroxysmal Nocturnal Hemoglobinuria</a>, <a href="https://rarediseases.org/rare-diseases/paroxysmal-nocturnal-hemoglobinuria/">Hemoglobinuria paroxística nocturna</a>, <a href="https://rarediseases.org/rare-diseases/prrt2-associated-paroxysmal-movement-disorders/">PRRT2-Associated Paroxysmal Movement Disorders</a><span> ...</span> </span> </div> <div class="link-wrap"> <a href="https://applications.rarediseases.org/Home/WebEnroll?pId=178" target="_blank" class="patient-assistance-app-link" data-title="Paroxysmal Nocturnal Hemoglobinuria (PNH) Emergency Relief"> <span class="apply-online"><i class="fa-light fa-cloud-arrow-up"></i></span> Apply Online </a> </div> </div> <div class="single-rd-resource" id="patient-assistance-program-42"> <div class="single-rd-resource-headline">  <h5 class="body-font"> <span class="color-br-black">Paroxysmal Nocturnal Hemoglobinuria (PNH) Premium Copay Assistance</span> </h5> <div class="xs-mt"> <span><em>Temporarily Waitlisting</em></span> </div> </div> <div class="resource-contact-details"> <span class="phone"> <span>Phone:</span> <a href="tel:855-567-3814"> 855-567-3814 </a> </span> <span class="email"> <span>Email:</span> <a href="/cdn-cgi/l/email-protection#f8889690b88a998a9d9c918b9d998b9d8bd6978a9f"> <span class="__cf_email__" data-cfemail="d3a3bdbb93a1b2a1b6b7baa0b6b2a0b6a0fdbca1b4">[email protected]</span> </a> </span> <span class="fax"> <span>Fax:</span> 203-517-4297 </span> </div> <div class="rd-details xs-mb"> <span class="rare-diseases w-100"> <span>Related Rare Diseases:</span> <a href="https://rarediseases.org/rare-diseases/paroxysmal-nocturnal-hemoglobinuria/">Paroxysmal Nocturnal Hemoglobinuria</a>, <a href="https://rarediseases.org/rare-diseases/paroxysmal-nocturnal-hemoglobinuria/">Hemoglobinuria paroxística nocturna</a>, <a href="https://rarediseases.org/rare-diseases/prrt2-associated-paroxysmal-movement-disorders/">PRRT2-Associated Paroxysmal Movement Disorders</a><span> ...</span> </span> </div> <div class="rd-details xs-mb"> <span class="resources w-100"> <span>Resource(s):</span> <a href="https://applications.rarediseases.org/Data/GetFile?guid=30f851489f0b4d8f8402ae94702c8bd0">PNH-PAP</a> </span> </div> </div> </div><h3>Additional Assistance Programs</h3><div class="program-grid"> <div> <div class="inner"> <h4>MedicAlert Assistance Program</h4> <p>NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations.</p> <a href="https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/" class="button sm-mt">Learn more</a> <a href="https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/" class="print-only">https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/</a> </div> </div> <div> <div class="inner"> <h4>Rare Disease Educational Support Program</h4> <p>Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORD’s mission.</p> <a href="https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/" class="button sm-mt">Learn more</a> <a href="https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/" class="print-only">https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/</a> </div> </div> <div> <div class="inner"> <h4>Rare Caregiver Respite Program</h4> <p>This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder.</p> <a href="https://rarediseases.org/patient-assistance-programs/caregiver-respite/" class="button sm-mt">Learn more</a> <a href="https://rarediseases.org/patient-assistance-programs/caregiver-respite/" class="print-only">https://rarediseases.org/patient-assistance-programs/caregiver-respite/</a> </div> </div> </div><div class="sm-mt"><a href="https://rarediseases.org/patient-assistance-programs/" class="feature-link">Learn more about Patient Assistance Programs ></a></div></section><hr class="d-none" /><section data-id="orgs" class="rdd-single-section"> <h3 class="body-font f-bold">Patient Organizations</h3><div class="rd-resources nord-ajax-results-rdd organizations "> <div class="single-rd-resource"> <div class="single-rd-resource-headline"> <h5 class="body-font"> <a href="https://rarediseases.org/organizations/aplastic-anemia-mds-international-foundation/">Aplastic Anemia & MDS International Foundation</a> </h5> </div> <span class="rare-diseases w-100"> <div class="xs-mt"> <span><em>NORD Member</em></span> </div> <div class="resource-contact-details"> <span class="email no-mb"> <span>Email:</span> <a href="/cdn-cgi/l/email-protection#acc4c9c0dceccdcdc1c8df82c3decb"> <span class="__cf_email__" data-cfemail="a4ccc1c8d4e4c5c5c9c0d78acbd6c3">[email protected]</span> </a> </span> </div> <div class="rd-details"> <span class="rare-diseases w-100"> <span>Related Rare Diseases:</span> <a href="https://rarediseases.org/rare-diseases/myelodysplastic-syndromes/">Myelodysplastic Syndromes</a>, <a href="https://rarediseases.org/rare-diseases/paroxysmal-nocturnal-hemoglobinuria/">Paroxysmal Nocturnal Hemoglobinuria</a>, <a href="https://rarediseases.org/rare-diseases/acquired-aplastic-anemia/">Acquired Aplastic Anemia</a>, <span> ...</span> </span> </div> <a href="https://rarediseases.org/organizations/aplastic-anemia-mds-international-foundation/" class="print-only">https://rarediseases.org/organizations/aplastic-anemia-mds-international-foundation/</a> <div class="xs-mt rdd-profile-link"> <a href="https://rarediseases.org/organizations/aplastic-anemia-mds-international-foundation/">View Profile ></a> </div> </div> <div class="single-rd-resource"> <div class="single-rd-resource-headline"> <h5 class="body-font"> <a href="https://rarediseases.org/organizations/nih-national-heart-lung-and-blood-institute-hematology-branch/">NIH/National Heart, Lung and Blood Institute ~ Hematology Branch</a> </h5> </div> <span class="rare-diseases w-100"> <div class="resource-contact-details"> <span class="phone no-mb"> <span>Phone:</span> <a href="tel:301-496-5093"> 301-496-5093 </a> </span> <span class="email no-mb"> <span>Email:</span> <a href="/cdn-cgi/l/email-protection#bae3d5cfd4ddf4e9fad7dbd3d694d4d3d294ddd5cc"> <span class="__cf_email__" data-cfemail="94cdfbe1faf3dac7d4f9f5fdf8bafafdfcbaf3fbe2">[email protected]</span> </a> </span> <span class="fax no-mb"> <span>Fax:</span> 301-496-8396 </span> </div> <div class="rd-details"> <span class="rare-diseases w-100"> <span>Related Rare Diseases:</span> <a href="https://rarediseases.org/rare-diseases/warm-autoimmune-hemolytic-anemia/">Warm Autoimmune Hemolytic Anemia</a>, <a href="https://rarediseases.org/rare-diseases/cold-agglutinin-disease/">Cold Agglutinin Disease</a>, <a href="https://rarediseases.org/rare-diseases/x-linked-lymphoproliferative-syndrome/">X linked Lymphoproliferative Syndrome</a>, <span> ...</span> </span> </div> <a href="https://rarediseases.org/organizations/nih-national-heart-lung-and-blood-institute-hematology-branch/" class="print-only">https://rarediseases.org/organizations/nih-national-heart-lung-and-blood-institute-hematology-branch/</a> <div class="xs-mt rdd-profile-link"> <a href="https://rarediseases.org/organizations/nih-national-heart-lung-and-blood-institute-hematology-branch/">View Profile ></a> </div> </div> </div><div class="sm-mt"><a href="https://rarediseases.org/living-with-a-rare-disease/about-nord-membership/" class="feature-link">Learn more about Patient Organization & Membership ></a></div></section><hr class="d-none" /><section data-id="mondo_id" id="nord-report-more-information" class="rdd-single-section"><h3 class="body-font f-bold">More Information</h3><p><small><i>The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.</i></small></p><h5>GARD Disease Summary</h5><p>The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).</p><a href="https://rarediseases.info.nih.gov/diseases/7337/x" class="more-link">View report</a><hr/><h5>Orphanet</h5><p>Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.</p><a href="https://www.orpha.net/en/disease/detail/447" class="more-link">View report</a><hr/></section><script data-cfasync="false" src="/cdn-cgi/scripts/5c5dd728/cloudflare-static/email-decode.min.js"></script><script type='text/javascript'> jQuery(document).ready(function($) { if($('.tabs').length > 0) { $('.tabs > li').on('click', function() { var activeItem = $(this).data('id'); $(this).addClass('active').siblings().removeClass('active'); $('.rdd-single-section[data-id='+activeItem+']').addClass('active').siblings().removeClass('active'); }); } }); </script> <ul class="section-nav" style="display: none;"> <li class="section-prev">< Previous section</li> </ul> </div> </div> </div> </section> </div> </div> </div> </div> <script nitro-exclude> document.cookie = 'nitroCachedPage=' + (!window.NITROPACK_STATE ? 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value='{"closepopup":false,"closedelay":0,"openpopup":false,"openpopup_id":0}' /> grecaptcha.ready(function() { grecaptcha.execute("6Lc_CEopAAAAACjj_tyibG1kHMOp5bOEly7_pvZb", {action: "submit"}).then(function(token) { var recaptchaResponse = document.getElementById("g-recaptcha-response"); if (recaptchaResponse) { recaptchaResponse.value = token; } }); }); </script></div> <div class='gform-body gform_body'><div id='gform_fields_20' class='gform_fields top_label form_sublabel_below description_below validation_below'><div id="field_20_6" class="gfield gfield--type-post_title gfield--input-type-post_title gfield--width-half gfield_contains_required field_sublabel_below gfield--no-description field_description_below field_validation_below gfield_visibility_visible" data-js-reload="field_20_6" ><label class='gfield_label gform-field-label' for='input_20_6'>Your Name<span class="gfield_required"><span class="gfield_required gfield_required_text">(Required)</span></span></label><div class='ginput_container ginput_container_post_title'> <input name='input_6' id='input_20_6' type='text' value='' class='large' aria-required="true" aria-invalid="false" /> </div></div><div id="field_20_7" class="gfield gfield--type-post_custom_field gfield--input-type-email gfield--width-half gfield_contains_required field_sublabel_below gfield--no-description field_description_below field_validation_below gfield_visibility_visible" data-js-reload="field_20_7" ><label class='gfield_label gform-field-label' for='input_20_7'>Your Email<span class="gfield_required"><span class="gfield_required gfield_required_text">(Required)</span></span></label><div class='ginput_container ginput_container_email'> <input name='input_7' id='input_20_7' type='email' value='' class='large' aria-required="true" aria-invalid="false" /> </div></div><div id="field_20_8" class="gfield gfield--type-post_custom_field gfield--input-type-text gfield--width-full gfield_contains_required field_sublabel_below 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for='gform_browse_button_20_12'>Photo<span class="gfield_required"><span class="gfield_required gfield_required_text">(Required)</span></span></label><div class='gfield_description' id='gfield_description_20_12'>Max file size 5MB. Min. image size 260px X 260px</div><div class='ginput_container ginput_container_fileupload'><div id='gform_multifile_upload_20_12' data-settings='{"runtimes":"html5,flash,html4","browse_button":"gform_browse_button_20_12","container":"gform_multifile_upload_20_12","drop_element":"gform_drag_drop_area_20_12","filelist":"gform_preview_20_12","unique_names":true,"file_data_name":"file","url":"https:\/\/rarediseases.org\/?gf_page=13d885829505677","flash_swf_url":"https:\/\/rarediseases.org\/wp-includes\/js\/plupload\/plupload.flash.swf","silverlight_xap_url":"https:\/\/rarediseases.org\/wp-includes\/js\/plupload\/plupload.silverlight.xap","filters":{"mime_types":[{"title":"Allowed Files","extensions":"*"}],"max_file_size":"5242880b"},"multipart":true,"urlstream_upload":false,"multipart_params":{"form_id":20,"field_id":12},"gf_vars":{"max_files":0,"message_id":"gform_multifile_messages_20_12","disallowed_extensions":["php","asp","aspx","cmd","csh","bat","html","htm","hta","jar","exe","com","js","lnk","htaccess","phtml","ps1","ps2","php3","php4","php5","php6","py","rb","tmp"]}}' class='gform_fileupload_multifile'> <div id='gform_drag_drop_area_20_12' class='gform_drop_area gform-theme-field-control'> <span class='gform_drop_instructions'>Drop files here or </span> <button type='button' id='gform_browse_button_20_12' class='button gform_button_select_files gform-theme-button gform-theme-button--control' aria-describedby="gfield_upload_rules_20_12 gfield_description_20_12" >Select files</button> </div> </div><span class='gfield_description gform_fileupload_rules' id='gfield_upload_rules_20_12'>Max. file size: 5 MB.</span><ul class='validation_message--hidden-on-empty gform-ul-reset' id='gform_multifile_messages_20_12'></ul> </div><div id='gform_preview_20_12' class='ginput_preview_list'></div></div><div id="field_20_11" class="gfield gfield--type-post_custom_field gfield--input-type-textarea gfield--width-full gfield_contains_required field_sublabel_below gfield--has-description field_description_above field_validation_below gfield_visibility_visible" data-js-reload="field_20_11" ><label class='gfield_label gform-field-label' for='input_20_11'>Your Message<span class="gfield_required"><span class="gfield_required gfield_required_text">(Required)</span></span></label><div class='gfield_description' id='gfield_description_20_11'>Max. 15 words</div><div class='ginput_container ginput_container_textarea'><textarea name='input_11' id='input_20_11' class='textarea small' aria-describedby="gfield_description_20_11" aria-required="true" aria-invalid="false" rows='10' cols='50'></textarea></div></div><fieldset id="field_20_13" class="gfield gfield--type-consent gfield--type-choice gfield--input-type-consent gfield--width-full gfield_contains_required field_sublabel_below gfield--has-description field_description_below field_validation_below gfield_visibility_visible" data-js-reload="field_20_13" ><legend class='gfield_label gform-field-label gfield_label_before_complex' >Consent<span class="gfield_required"><span class="gfield_required gfield_required_text">(Required)</span></span></legend><div class='ginput_container ginput_container_consent'><input name='input_13.1' id='input_20_13_1' type='checkbox' value='1' aria-describedby="gfield_consent_description_20_13" aria-required="true" aria-invalid="false" /> <label class="gform-field-label gform-field-label--type-inline gfield_consent_label" for='input_20_13_1' >I agree to the terms and conditions</label><input type='hidden' name='input_13.2' value='I agree to the terms and conditions' class='gform_hidden' /><input type='hidden' name='input_13.3' value='5' class='gform_hidden' /></div><div class='gfield_description gfield_consent_description' id='gfield_consent_description_20_13'>In these Standard Terms and Conditions, “Your Content” refers to any audio, video, text, images, or other material you provide or display. By providing “Your Content”, you grant NORD a license to read, use, reproduce, adapt, modify, publish, translate, and distribute the content in our marketing materials and to all media. “Your Content” must be your own and must not invade any third‐party’s rights. When you submit content or information to NORD, you are allowing the public to access and use that information, and to associate it with you. NORD reserves the right to remove “Your Content” at any time, without notice. We take your privacy very seriously. Subject to the Terms and Conditions above, NORD will never sell or disclose your personal information.</div></fieldset><div id="field_20_14" class="gfield gfield--type-honeypot gform_validation_container field_sublabel_below gfield--has-description field_description_below field_validation_below gfield_visibility_visible" data-js-reload="field_20_14" ><label class='gfield_label gform-field-label' for='input_20_14'>Comments</label><div class='ginput_container'><input name='input_14' id='input_20_14' type='text' value='' autocomplete='new-password'/></div><div class='gfield_description' id='gfield_description_20_14'>This field is for validation purposes and should be left unchanged.</div></div></div></div> <div class='gform-footer gform_footer top_label'> <input type='submit' id='gform_submit_button_20' class='gform_button button' onclick='gform.submission.handleButtonClick(this)' value='Submit' /> <input type='hidden' name='gform_ajax' value='form_id=20&title=&description=&tabindex=0&theme=gravity-theme' /> <input type='hidden' class='gform_hidden' name='gform_submission_method' data-js='gform_submission_method_20' value='iframe' /> <input type='hidden' class='gform_hidden' name='is_submit_20' value='1' /> <input type='hidden' class='gform_hidden' name='gform_submit' value='20' /> <input type='hidden' class='gform_hidden' name='gform_unique_id' value='' /> <input type='hidden' class='gform_hidden' name='state_20' value='WyJ7XCIxMy4xXCI6XCI0OTMzOGI5MWYxY2Y3ZDJkYTZkODc2M2M4MmYzNTYyZVwiLFwiMTMuMlwiOlwiZmJhNTJmMWMwMDVhMGQ5NmNiZWQyOGI3ZWNlNDZhMWNcIixcIjEzLjNcIjpcIjU2ZmE4YmZjMzQxOGZlZjcwMWRmZGYzNzdhMDFjZTljXCJ9IiwiOTIyNTRkYjZmYTIzZmVmN2I3YWY4NWUwZjNjNjMxODUiXQ==' /> <input type='hidden' autocomplete='off' class='gform_hidden' name='gform_target_page_number_20' id='gform_target_page_number_20' value='0' /> <input type='hidden' autocomplete='off' class='gform_hidden' name='gform_source_page_number_20' id='gform_source_page_number_20' value='1' /> <input type='hidden' name='gform_field_values' value='' /> <input type='hidden' name='gform_uploaded_files' id='gform_uploaded_files_20' value='' /> </div> </form> </div> <iframe style='display:none;width:0px;height:0px;' src='about:blank' name='gform_ajax_frame_20' id='gform_ajax_frame_20' title='This iframe contains the logic required to handle Ajax powered Gravity Forms.'></iframe> <script type="text/javascript"> /* <![CDATA[ */ gform.initializeOnLoaded( function() {gformInitSpinner( 20, 'https://rarediseases.org/wp-content/plugins/gravityforms/images/spinner.svg', true );jQuery('#gform_ajax_frame_20').on('load',function(){var contents = jQuery(this).contents().find('*').html();var is_postback = contents.indexOf('GF_AJAX_POSTBACK') >= 0;if(!is_postback){return;}var form_content = jQuery(this).contents().find('#gform_wrapper_20');var is_confirmation = jQuery(this).contents().find('#gform_confirmation_wrapper_20').length > 0;var is_redirect = contents.indexOf('gformRedirect(){') >= 0;var is_form = form_content.length > 0 && ! is_redirect && ! is_confirmation;var mt = parseInt(jQuery('html').css('margin-top'), 10) + parseInt(jQuery('body').css('margin-top'), 10) + 100;if(is_form){jQuery('#gform_wrapper_20').html(form_content.html());if(form_content.hasClass('gform_validation_error')){jQuery('#gform_wrapper_20').addClass('gform_validation_error');} else {jQuery('#gform_wrapper_20').removeClass('gform_validation_error');}setTimeout( function() { /* delay the scroll by 50 milliseconds to fix a bug in chrome */ jQuery(document).scrollTop(jQuery('#gform_wrapper_20').offset().top - mt); }, 50 );if(window['gformInitDatepicker']) {gformInitDatepicker();}if(window['gformInitPriceFields']) {gformInitPriceFields();}var current_page = jQuery('#gform_source_page_number_20').val();gformInitSpinner( 20, 'https://rarediseases.org/wp-content/plugins/gravityforms/images/spinner.svg', true 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visibilitySpan.id = "gform_visibility_test_20"; gformWrapperDiv.insertAdjacentElement( "afterend", visibilitySpan ); } const visibilityTestDiv = document.getElementById( "gform_visibility_test_20" ); let postRenderFired = false; function triggerPostRender() { if ( postRenderFired ) { return; } postRenderFired = true; jQuery( document ).trigger( 'gform_post_render', [20, current_page] ); gform.utils.trigger( { event: 'gform/postRender', native: false, data: { formId: 20, currentPage: current_page } } ); gform.utils.trigger( { event: 'gform/post_render', native: false, data: { formId: 20, currentPage: current_page } } ); if ( visibilityTestDiv ) { visibilityTestDiv.parentNode.removeChild( visibilityTestDiv ); } } function debounce( func, wait, immediate ) { var timeout; return function() { var context = this, args = arguments; var later = function() { timeout = null; if ( !immediate ) func.apply( context, args ); }; var callNow = immediate && !timeout; clearTimeout( timeout ); timeout = 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data-popmake="{"id":257855,"slug":"rdd-community-stripes","theme_id":11442,"cookies":[],"triggers":[{"type":"click_open","settings":{"cookie_name":"","extra_selectors":""}}],"mobile_disabled":null,"tablet_disabled":null,"meta":{"display":{"stackable":false,"overlay_disabled":false,"scrollable_content":false,"disable_reposition":false,"size":"medium","responsive_min_width":"0%","responsive_min_width_unit":false,"responsive_max_width":"70%","responsive_max_width_unit":false,"custom_width":"640px","custom_width_unit":false,"custom_height":"380px","custom_height_unit":false,"custom_height_auto":false,"location":"center","position_from_trigger":false,"position_top":"100","position_left":"0","position_bottom":"0","position_right":"0","position_fixed":false,"animation_type":"fade","animation_speed":"350","animation_origin":"center top","overlay_zindex":false,"zindex":"1999999999"},"close":{"text":"","button_delay":"0","overlay_click":false,"esc_press":false,"f4_press":false},"click_open":[]}}"> <div id="popmake-257855" class="pum-container popmake theme-11442 pum-responsive pum-responsive-medium responsive size-medium"> <div class="pum-content popmake-content" tabindex="0"> <div class='gf_browser_ie gf_browser_ie7 gform_wrapper gravity-theme gform-theme--no-framework' data-form-theme='gravity-theme' data-form-index='0' id='gform_wrapper_35' ><div id='gf_35' class='gform_anchor' tabindex='-1'></div><form method='post' enctype='multipart/form-data' target='gform_ajax_frame_35' id='gform_35' action='/rare-diseases/paroxysmal-nocturnal-hemoglobinuria/#gf_35' data-formid='35' novalidate><div class="nitro-exclude"><input type="hidden" id="g-recaptcha-response" name="g-recaptcha-response" /><script nitro-exclude> <input type='hidden' class='gforms-pum' value='{"closepopup":false,"closedelay":0,"openpopup":false,"openpopup_id":0}' /> grecaptcha.ready(function() { grecaptcha.execute("6Lc_CEopAAAAACjj_tyibG1kHMOp5bOEly7_pvZb", {action: "submit"}).then(function(token) { var recaptchaResponse = document.getElementById("g-recaptcha-response"); if (recaptchaResponse) { recaptchaResponse.value = token; } }); }); </script></div> <div class='gform-body gform_body'><div id='gform_fields_35' class='gform_fields top_label form_sublabel_above description_above validation_below'><fieldset id="field_35_1" class="gfield gfield--type-name gfield--input-type-name gfield_contains_required field_sublabel_above gfield--no-description field_description_above field_validation_below gfield_visibility_visible" data-js-reload="field_35_1" ><legend class='gfield_label gform-field-label gfield_label_before_complex' >Name<span class="gfield_required"><span class="gfield_required gfield_required_text">(Required)</span></span></legend><div class='ginput_complex ginput_container ginput_container--name no_prefix has_first_name no_middle_name has_last_name no_suffix gf_name_has_2 ginput_container_name gform-grid-row' id='input_35_1'> <span id='input_35_1_3_container' class='name_first gform-grid-col gform-grid-col--size-auto' > <label for='input_35_1_3' class='gform-field-label gform-field-label--type-sub '>First</label> <input type='text' name='input_1.3' id='input_35_1_3' value='' aria-required='true' autocomplete="given-name" /> </span> <span id='input_35_1_6_container' class='name_last gform-grid-col gform-grid-col--size-auto' > <label for='input_35_1_6' class='gform-field-label gform-field-label--type-sub '>Last</label> <input type='text' name='input_1.6' id='input_35_1_6' value='' aria-required='true' autocomplete="family-name" /> </span> </div></fieldset><fieldset id="field_35_2" class="gfield gfield--type-email gfield--input-type-email gfield_contains_required field_sublabel_above gfield--no-description field_description_above 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aria-required="true" aria-invalid="false" autocomplete="email"/> </span> <div class='gf_clear gf_clear_complex'></div> </div></fieldset><div id="field_35_4" class="gfield gfield--type-fileupload gfield--input-type-fileupload gfield--width-full field_sublabel_above gfield--no-description field_description_above field_validation_below gfield_visibility_visible" data-js-reload="field_35_4" ><label class='gfield_label gform-field-label' for='gform_browse_button_35_4'>Photos</label><div class='ginput_container ginput_container_fileupload'><div id='gform_multifile_upload_35_4' 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<div id='gform_drag_drop_area_35_4' class='gform_drop_area gform-theme-field-control'> <span class='gform_drop_instructions'>Drop files here or </span> <button type='button' id='gform_browse_button_35_4' class='button gform_button_select_files gform-theme-button gform-theme-button--control' aria-describedby="gfield_upload_rules_35_4" >Select files</button> </div> </div><span class='gfield_description gform_fileupload_rules' id='gfield_upload_rules_35_4'>Accepted file types: jpeg, png, jpg, Max. file size: 3 MB.</span><ul class='validation_message--hidden-on-empty gform-ul-reset' id='gform_multifile_messages_35_4'></ul> </div><div id='gform_preview_35_4' class='ginput_preview_list'></div></div><div id="field_35_3" class="gfield gfield--type-textarea gfield--input-type-textarea gfield_contains_required field_sublabel_above gfield--has-description field_description_above field_validation_below gfield_visibility_visible" data-js-reload="field_35_3" ><label class='gfield_label gform-field-label' for='input_35_3'>Comments<span class="gfield_required"><span class="gfield_required gfield_required_text">(Required)</span></span></label><div class='gfield_description' id='gfield_description_35_3'>Please let us know what's on your mind. 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S\u00edndrome de Bassen-Kornzweig ","Deficiencia de lipoprote\u00ednas de baja densidad ","Deficiencia de prote\u00edna de transferencia de triglic\u00e9ridos microsomal ","Deficiencia de MTP","Hipobetalipoproteinemia familiar por defecto de secreci\u00f3n 1 (FHBL-SD1)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/abetalipoproteinemia\/"},{"id":"704","title":"Ablepharon-Macrostomia Syndrome *","synonyms":["AMS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ablepharon-macrostomia-syndrome\/"},{"id":"257748","title":"S\u00edndrome de abl\u00e9faron-macrostom\u00eda *","synonyms":["AMS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/ablepharon-macrostomia-syndrome\/"},{"id":"705","title":"Acanthocheilonemiasis *","synonyms":["Acanthocheilonemiasis perstans","Dipetalonema perstans","Dipetalonemiasis","Mansonella 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Acrocallosal Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/acrocallosal-syndrome-schinzel-type\/"},{"id":"721","title":"Acrodermatitis Enteropathica *","synonyms":["AE","Brandt syndrome","Danbolt-Cross syndrome","zinc deficiency, congenital"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/acrodermatitis-enteropathica\/"},{"id":"722","title":"Acrodysostosis *","synonyms":["acrodysostosis with or without hormone resistance","Arkless-Graham syndrome","Maroteaux-Malamut syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/acrodysostosis\/"},{"id":"723","title":"Acromegaly *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/acromegaly\/"},{"id":"255495","title":"Acromegalia 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edema"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/acute-respiratory-distress-syndrome\/"},{"id":"731","title":"Adams-Oliver Syndrome *","synonyms":["limb scalp and skull defects","AOS","congenital scalp defects with distal limb anomalies","congenital scalp defects with distal limb reduction anomalies","limb, scalp, and skull defects","Adams Oliver syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/adams-oliver-syndrome\/"},{"id":"732","title":"Addison's Disease *","synonyms":["chronic adrenocortical insufficiency","primary adrenal insufficiency","primary failure adrenocortical insufficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/addisons-disease\/"},{"id":"733","title":"Adenoid Cystic Carcinoma *","synonyms":["ACC","adenocystic carcinoma","cribriform 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*","synonyms":["ALD","X-ALD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/adrenoleukodystrophy\/"},{"id":"737","title":"Adult-Onset Still's Disease *","synonyms":["adult Still's disease","AOSD","Wissler-Fanconi syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/adult-onset-stills-disease\/"},{"id":"738","title":"AEC Syndrome *","synonyms":["ankyloblepharon-ectodermal defects-cleft lip\/palate","ankyloblepharon-ectodermal dysplasia-cleft lip\/palate syndrome","Hay-Wells syndrome","Rapp-Hodgkin syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/aec-syndrome\/"},{"id":"257989","title":"S\u00edndrome de anquilobl\u00e9faron-displasia ectod\u00e9rmica-fisura labiopalatina *","synonyms":["Anquilobl\u00e9faron-defectos ectod\u00e9rmicos-labio hendido\/paladar hendido ","S\u00edndrome de anquilobl\u00e9faron-displasia ectod\u00e9rmica-labio hendido\/paladar 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Callosum *","synonyms":["ACC","Corpus Callosum, Agenesis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/agenesis-of-corpus-callosum\/"},{"id":"743","title":"Agranulocytosis, Acquired *","synonyms":["Agranulocytic Angina","Granulocytopenia, Primary","Neutropenia, Malignant"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/agranulocytosis-acquired\/"},{"id":"744","title":"Ahumada-Del Castillo Syndrome *","synonyms":["Amenorrhea-Galactorrhea-FSH Decrease Syndrome","Argonz-Del Castillo Syndrome","Galactorrhea-Amenorrhea without Pregnancy","Nonpuerperal Galactorrhea-Amenorrhea"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ahumada-del-castillo-syndrome\/"},{"id":"745","title":"Aicardi Syndrome *","synonyms":["agenesis of corpus callosum with chorioretinitis abnormality","agenesis of corpus callosum with infantile spasms and ocular anomalies","callosal agenesis and ocular abnormalities","chorioretinal anomalies with ACC","corpus callosum, agenesis of chorioretinal abnormality"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/aicardi-syndrome\/"},{"id":"746","title":"AIDS Dysmorphic Syndrome *","synonyms":["Dysmorphic Acquired Immune Deficiency Syndrome","Dysmorphic AIDS","Fetal Acquired Immune Deficiency Syndrome (AIDS)","Fetal AIDS Infection","Fetal Effects of AIDS","HIV Embryopathy","Perinatal AIDS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/aids-dysmorphic-syndrome\/"},{"id":"747","title":"ALAD Porphyria *","synonyms":["ADP","ALAD deficiency","ALA-dehydratase deficient porphyria","delta-aminolevulinate dehydratase deficiency","Doss porphyria","porphyria of Doss"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/alad-porphyria\/"},{"id":"748","title":"Alagille Syndrome *","synonyms":["Alagille-Watson syndrome","arteriohepatic dysplasia","cholestasis with peripheral pulmonary stenosis","syndromic bile duct paucity","ALGS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/alagille-syndrome\/"},{"id":"749","title":"Alexander Disease *","synonyms":["dysmyelogenic leukodystrophy","dysmyelogenic leukodystrophy-megalobare","fibrinoid degeneration of astrocytes","fibrinoid leukodystrophy","hyaline panneuropathy","leukodystrophy with rosenthal fibers","megalencephaly with hyaline inclusion","megalencephaly with hyaline panneuropathy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/alexander-disease\/"},{"id":"750","title":"Alkaptonuria *","synonyms":["AKU","alcaptonuria"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/alkaptonuria\/"},{"id":"751","title":"Alopecia Areata *","synonyms":["Alopecia Celsi","Alopecia Cicatrisata","Alopecia Circumscripta","Cazenave's Vitiligo","Celsus' Vitiligo","Jonston's 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syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/alpha-thalassemia-x-linked-intellectual-disability-syndrome\/"},{"id":"150870","title":"S\u00edndrome de alfa talasemia-discapacidad intelectual ligada al cromosoma X *","synonyms":["S\u00edndrome ATR-X ","S\u00edndrome de Carpenter-Waziri ","S\u00edndrome cerebrofaciogenital ","S\u00edndrome de Chudley-Lowry ","S\u00edndrome de Holmes-Gang","XLID-s\u00edndrome de la cara hipot\u00f3nica ","S\u00edndrome de discapacidad intelectual ligada al cromosoma X - huellas dactilares del arco - hipoton\u00eda"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/alpha-thalassemia-x-linked-intellectual-disability-syndrome\/"},{"id":"754","title":"Alpha-1 Antitrypsin Deficiency *","synonyms":["A1AD","AATD","genetic emphysema"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/alpha-1-antitrypsin-deficiency\/"},{"id":"259376","title":"Deficiencia de alfa-1 antitripsina *","synonyms":["A1AD","Deficiencia del inhibidor de la proteinasa alfa ","Enfisema gen\u00e9tico"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/alpha-1-antitrypsin-deficiency\/"},{"id":"755","title":"Alpha-Mannosidosis *","synonyms":["alpha-mannosidase B deficiency","lysosomal alpha-D-mannosidase deficiency","mannosidase, alpha B, lysosomal","mannosidosis","mannosidosis, alpha B, lysosomal"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/alpha-mannosidosis\/"},{"id":"756","title":"Alport Syndrome *","synonyms":["hematuria-nephropathy deafness (former)","hemorrhagic familial nephritis (former)","hereditary deafness and nephropathy (former)","hereditary nephritis (former)","hereditary nephritis with sensory deafness 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*","synonyms":["ACDMPV","alveolar capillary dysplasia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/alveolar-capillary-dysplasia\/"},{"id":"179111","title":"Displasia alveolar capilar con desalineaci\u00f3n de las venas pulmonares *","synonyms":["ACDMPV","Displasia capilar alveolar"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/alveolar-capillary-dysplasia\/"},{"id":"760","title":"Alveolar Soft Part Sarcoma *","synonyms":["Alveolar sarcoma of soft parts","Alveolar soft-tissue sarcoma","ASPS","ASP sarcoma"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/alveolar-soft-part-sarcoma\/"},{"id":"761","title":"Hypersensitivity Pneumonitis *","synonyms":["extrinsic allergic alveolitis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/alveolitis-extrinsic-allergic\/"},{"id":"254346","title":"Alveolitis al\u00e9rgica extr\u00ednseca *","synonyms":["Neumon\u00eda al\u00e9rgica extr\u00ednseca ","Neumonitis por hipersensibilidad (HP) ","Neumonitis intersticial al\u00e9rgica (AIP; s\u00edndrome de Hamman-Rich)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/alveolitis-extrinsic-allergic\/"},{"id":"763","title":"Ameloblastic Carcinoma *","synonyms":["No synonyms found"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ameloblastic-carcinoma\/"},{"id":"764","title":"Ameloblastoma *","synonyms":["Adamantinoma","Mandibular Ameloblastoma","Maxillary Ameloblastoma","Odontogenic Tumor"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ameloblastoma\/"},{"id":"765","title":"Amelogenesis Imperfecta *","synonyms":["AI"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/amelogenesis-imperfecta\/"},{"id":"766","title":"Amniotic Band Syndrome *","synonyms":["ABS","amnion rupture 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Astrocytoma *","synonyms":["astrocytoma, grade III","malignant astrocytoma, grade III"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/anaplastic-astrocytoma\/"},{"id":"770","title":"Andersen Disease (GSD IV) *","synonyms":["amylopectinosis","Andersen glycogenosis","brancher deficiency","branching enzyme deficiency","glycogenosis type IV","glycogen storage disease IV"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/andersen-disease-gsd-iv\/"},{"id":"771","title":"Partial Androgen Insensitivity Syndrome *","synonyms":["PAIS","testicular feminization"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/androgen-insensitivity-syndrome-partial\/"},{"id":"772","title":"Anemia of Chronic Disease *","synonyms":["anemia of chronic inflammation","anemia of inflammation"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/anemia-of-chronic-disease\/"},{"id":"773","title":"Diamond Blackfan Anemia *","synonyms":["Aase-Smith II Syndrome","Aase Syndrome","anemia, congenital erythroid hypoplastic","anemia, congenital pure red cell","aplasia, congenital pure red cell","congenital hypoplastic anemia","congenital PRCA","Blackfan-Diamond anemia","erythrogenesis imperfecta","hypoplastic congenital anemia","inherited erythroblastopenia","DBA"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/anemia-blackfan-diamond\/"},{"id":"774","title":"Anemia, Hemolytic, Acquired Autoimmune *","synonyms":["Anemia, Idiopathic Autoimmune Hemolytic","Autoimmune Hemolytic Anemia","Idiopathic Autoimmune Hemolytic Anemia","Immune Hemolytic Anemia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/anemia-hemolytic-acquired-autoimmune\/"},{"id":"775","title":"Cold Agglutinin Disease *","synonyms":["CAD","cold agglutinin hemolytic anemia","cold antibody hemolytic anemia","cold antibody disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cold-agglutinin-disease\/"},{"id":"776","title":"Hereditary Nonspherocytic Hemolytic Anemia *","synonyms":["congenital nonspherocytic hemolytic anemia","HNHA","NSA","NSHA"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/anemia-hereditary-nonspherocytic-hemolytic\/"},{"id":"777","title":"Hereditary Spherocytosis *","synonyms":["acholuric jaundice","chronic acholuric jaundice","congenital hemolytic anemia","congenital hemolytic jaundice","congenital spherocytic anemia","hereditary spherocytic hemolytic anemia","HS","icterus (chronic familial)","Minkowski-Chauffard syndrome","SPH2","spherocytic anemia","spherocytosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/anemia-hereditary-spherocytic-hemolytic\/"},{"id":"778","title":"Megaloblastic Anemia *","synonyms":["constitutional megaloblastic anemia with severe neurological disease","DHFR deficiency ","dihydrofolate reductase deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/anemia-megaloblastic\/"},{"id":"779","title":"Anemia, Pernicious *","synonyms":["Addison-Biermer Anemia","Addisonian Pernicious Anemia","Addison's Anemia","Primary Anemia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/anemia-pernicious\/"},{"id":"781","title":"Anencephaly *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/anencephaly\/"},{"id":"782","title":"Angelman Syndrome *","synonyms":["AS","happy puppet syndrome (obsolete)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/angelman-syndrome\/"},{"id":"135247","title":"S\u00edndrome de Angelman *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/angelman-syndrome\/"},{"id":"783","title":"Hereditary Angioedema *","synonyms":["angioneurotic edema, hereditary","C1-INH","C1NH","complement component 1 inhibitor deficiency","complement component C1, regulatory component deficiency","esterase inhibitor deficiency","HAE","HANE"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hereditary-angioedema\/"},{"id":"784","title":"Angioimmunoblastic T-Cell Lymphoma *","synonyms":["AILD","AITL","angioimmunoblastic lymphadenopathy with dysproteinemia","immunoblastic lymphadenopathy","lymphogranulomatosis 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disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/anthrax\/"},{"id":"790","title":"Antiphospholipid Syndrome *","synonyms":["antiphospholipid antibody syndrome","APS","APLS","Hughes syndrome","lupus anticoagulant syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/antiphospholipid-syndrome\/"},{"id":"791","title":"Antithrombin Deficiency *","synonyms":["AT 3","AT III deficiency","thrombophilia, hereditary, due to AT III"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/antithrombin-deficiency\/"},{"id":"792","title":"Antley-Bixler Syndrome *","synonyms":["ABS","craniosynostosis, choanal atresia, radial humeral synostosis","trapezoidocephaly-multiple synostosis syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/antley-bixler-syndrome\/"},{"id":"793","title":"Apert Syndrome *","synonyms":["acrocephalosyndactyly, type 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*","synonyms":["APS-1","APS type 1","autoimmune-polyendocrine-candidiasis-ectodermal dystrophy syndrome","autoimmune polyendocrinopathy type 1 (APECED)","polyglandular autoimmune (PGA) syndrome type 1"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/autoimmune-polyglandular-syndrome-type-1\/"},{"id":"799","title":"Arachnoid Cysts *","synonyms":["cysts, arachnoid"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/arachnoid-cysts\/"},{"id":"801","title":"Arginase-1 Deficiency *","synonyms":["hyperargininemia","arginase deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/arginase-deficiency\/"},{"id":"153700","title":"Deficiencia de Arginasa-1 *","synonyms":["Hiperargininemia","Deficiencia de arginasa"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/arginase-deficiency\/"},{"id":"802","title":"Argininosuccinic Aciduria *","synonyms":["arginino succinase deficiency","argininosuccinate lyase deficiency","argininosuccinate acid lyase deficiency","ASA","ASL deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/argininosuccinic-aciduria\/"},{"id":"153707","title":"Aciduria argininosucc\u00ednica *","synonyms":["Deficiencia de arginino succinasa","Deficiencia de argininosuccinato liasa ","Deficiencia de argininosuccinato \u00e1cido liasa","ASA","Deficiencia de ASL deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/argininosuccinic-aciduria\/"},{"id":"803","title":"Arterial Tortuosity Syndrome *","synonyms":["ATS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/arterial-tortuosity-syndrome\/"},{"id":"259895","title":"S\u00edndrome de tortuosidad arterial *","synonyms":["ATS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/arterial-tortuosity-syndrome\/"},{"id":"804","title":"Arteriovenous Malformation *","synonyms":["AVM"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/arteriovenous-malformation\/"},{"id":"805","title":"Giant Cell Arteritis *","synonyms":["cranial arteritis","GCA","granulomatous arteritis","temporal arteritis (Horton's disease)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/arteritis-giant-cell\/"},{"id":"806","title":"Arteritis, Takayasu *","synonyms":["Aorta Arch Syndrome","Brachiocephalic Ischemia","Idiopathic Arteritis of Takayasu","Martorell Syndrome","Occlusive Thromboaortopathy","Pulseless Disease","Reverse Coarction","Takayasu Disease","Young Female Arteritis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/arteritis-takayasu\/"},{"id":"807","title":"Arthritis, Infectious *","synonyms":["Bacterial Arthritis","Purulent Arthritis","Pyarthrosis","Pyogenic Arthritis","Septic Arthritis","Suppurative Arthritis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/arthritis-infectious\/"},{"id":"810","title":"Arthrogryposis Multiplex Congenita *","synonyms":["AMC","arthrogryposis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/arthrogryposis-multiplex-congenita\/"},{"id":"274041","title":"Artrogriposis M\u00faltiple Cong\u00e9nita *","synonyms":["AMC","Artrogriposis "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/arthrogryposis-multiplex-congenita\/"},{"id":"811","title":"Asherman's Syndrome *","synonyms":["intrauterine synechiae","uterine synechiae","intrauterine adhesions (IUA)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ashermans-syndrome\/"},{"id":"812","title":"Asherson's Syndrome *","synonyms":["Catastrophic Antiphospholipid Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ashersons-syndrome\/"},{"id":"813","title":"Aspartylglycosaminuria *","synonyms":["AGA","AGU","Aspartylglucosaminidase Deficiency","Glycosylasparaginase Deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/aspartylglycosaminuria\/"},{"id":"814","title":"Aspergillosis *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/aspergillosis\/"},{"id":"253814","title":"Aspergilosis *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/aspergillosis\/"},{"id":"815","title":"Astrocytoma *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/astrocytoma\/"},{"id":"816","title":"Ataxia Telangiectasia *","synonyms":["AT","cerebello-oculocutaneous telangiectasia","immunodeficiency with ataxia telangiectasia","Louis-Bar Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ataxia-telangiectasia\/"},{"id":"254420","title":"Ataxia Telangiectasia *","synonyms":["AT","Telangiectasia cerebelo-oculocut\u00e1nea ","Inmunodeficiencia con ataxia telangiectasia ","S\u00edndrome de Louis-Bar"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/ataxia-telangiectasia\/"},{"id":"817","title":"Ataxia with Vitamin E Deficiency *","synonyms":["AVED","Familial Isolated Vitamin E Deficiency","Isolated Vitamin E Deficiency","Friedreich-like ataxia with vitamin E deficiency","Friedreich-like ataxia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ataxia-with-vitamin-e-deficiency\/"},{"id":"181265","title":"Ataxia con deficiencia de vitamina E *","synonyms":["AVED","Deficiencia aislada familiar de vitamina E ","Ataxia con deficiencia aislada de vitamina E ","Deficiencia aislada de vitamina E","Ataxia tipo Friedreich","Ataxia tipo Friedreich con deficiencia de Vitamina E"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/ataxia-with-vitamin-e-deficiency\/"},{"id":"818","title":"Friedreich's Ataxia *","synonyms":["FRDA"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/friedreichs-ataxia\/"},{"id":"273867","title":"Ataxia de Friedreich *","synonyms":["FRDA"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/friedreichs-ataxia\/"},{"id":"819","title":"Atransferrinemia *","synonyms":["congenital atransferrinemia","hereditary 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*","synonyms":["autoimmune bullous disorders"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/autoimmune-blistering-diseases\/"},{"id":"824","title":"Autoimmune Polyendocrine Syndrome Type II *","synonyms":["Diabetes Mellitus, Addison's Disease, Myxedema","Multiple Endocrine Deficiency Syndrome, Type II","PGA II","Polyglandular Autoimmune Syndrome, Type II","Polyglandular Deficiency Syndrome, Type II","Schmidt Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/autoimmune-polyendocrine-syndrome-type-ii\/"},{"id":"825","title":"Autosomal Dominant Hereditary Ataxia *","synonyms":["episodic ataxia","spinocerebellar ataxia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/autosomal-dominant-hereditary-ataxia\/"},{"id":"826","title":"Autosomal Dominant Hyper IgE Syndrome *","synonyms":["AD-HIES","HIES","HIE syndrome","hyperimmunoglobulin E recurrent infection syndrome","Job 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*","synonyms":["Gould syndrome 1","hemiplegia, infantile, with porencephaly","brain small vessel disease with hemorrhage","retinal arteriolar tortuosity, infantile hemiparesis and leukoencephalopathy, AD","brain small vessel disease with Axenfeld-Rieger anomaly","porencephaly, type 1, autosomal dominant, formerly; ADPTIP, formerly","porencephaly 1, formerly; poren1, formerly","porencephaly, type 1, formerly; TIP, formerly"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/autosomal-dominant-porencephaly-type-i\/"},{"id":"274030","title":"Enfermedad de los Peque\u00f1os Vasos Cerebrales 1 con o sin Anomal\u00edas Oculares *","synonyms":["S\u00edndrome de Gould 1 ","Hemiplej\u00eda infantil con porencefalia","Enfermedad de los peque\u00f1os vasos cerebrales con hemorragia","Tortuosidad arteriolar retiniana, hemiparesia infantil y leucoencefalopat\u00eda, AD ","Enfermedad de los peque\u00f1os vasos cerebrales con anomal\u00eda de Axenfeld-Rieger ","Porencefalia, tipo 1, autos\u00f3mica dominante (anteriormente)"," Porencefalia 1 (anteriormente)","Porencefalia, tipo 1 (anteriormente)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/autosomal-dominant-porencephaly-type-i\/"},{"id":"830","title":"Autosomal Recessive Hyper IgE Syndrome *","synonyms":["AR-HIES","HIES","HIE syndrome","hyperimmunoglobulin E recurrent infection syndrome","Job syndrome, autosomal recessive"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/autosomal-recessive-hyper-ige-syndrome\/"},{"id":"831","title":"Autosomal Recessive Polycystic Kidney Disease *","synonyms":["ARPKD","polycystic kidney disease, infantile"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/autosomal-recessive-polycystic-kidney-disease\/"},{"id":"832","title":"Babesiosis *","synonyms":["Piriplasmosis","Redwater Fever"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/babesiosis\/"},{"id":"833","title":"Balantidiasis *","synonyms":["Balantidiosis","Balantidosis","Ciliary Dysentery"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/balantidiasis\/"},{"id":"835","title":"Balo Disease *","synonyms":["Concentric Sclerosis","Encephalitis Periaxialis Concentrica","Leukoencephalitis Periaxialis Concentric"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/balo-disease\/"},{"id":"836","title":"Banti's Syndrome *","synonyms":["Banti's Disease","Hypersplenism","Idiopathic congestive splenomegaly","Idiopathic portal hypertension"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/bantis-syndrome\/"},{"id":"837","title":"Barakat Syndrome *","synonyms":["HDR syndrome","hypoparathyroidism, sensorineural deafness and renal dysplasia (or disease)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/barakat-syndrome\/"},{"id":"181750","title":"S\u00edndrome de Barakat *","synonyms":["S\u00edndrome HDR ","Hipoparatiroidismo, sordera neurosensorial y displasia (o enfermedad) renal"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/barakat-syndrome\/"},{"id":"838","title":"Bardet-Biedl Syndrome *","synonyms":["BBS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/bardet-biedl-syndrome\/"},{"id":"142278","title":"S\u00edndrome de Bardet-Biedl *","synonyms":["BBS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/sindrome-de-bardet-biedl\/"},{"id":"840","title":"Barth Syndrome *","synonyms":["X linked endocardial fibroelastosis (EFE)","X linked cardioskeletal myopathy and neutropenia","3-methylglutaconic aciduria, Type II (MGA, Type II)","cardioskeletal myopathy, Barth 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Binder"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/binder-type-maxillonasal-dysplasia\/"},{"id":"856","title":"Binswanger Disease *","synonyms":["Binswanger encephalopathy","multi-infarct dementia, Binswanger type","subcortical arteriosclerotic encephalopathy, SAE","subcortical dementia","subcortical ischemic vascular disease","vascular dementia, Binswanger type"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/binswanger-disease\/"},{"id":"250500","title":"Enfermedad de Binswanger *","synonyms":["Encefalopat\u00eda de Binswanger ","Demencia por infarto m\u00faltiple, tipo Binswanger","Encefalopat\u00eda arterioscler\u00f3tica subcortical","Demencia subcortical","Enfermedad vascular isqu\u00e9mica subcortical","Demencia vascular tipo Binswanger "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/binswanger-disease\/"},{"id":"857","title":"Biotinidase Deficiency *","synonyms":["BTD deficiency","infantile multiple carboxylase deficiency","juvenile multiple carboxylase deficiency","late-onset multiple carboxylase deficiency","multiple carboxylase deficiency, due to biotinidase deficiency","delayed-onset biotinidase deficiency","profound biotinidase deficiency","partial biotinidase deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/biotinidase-deficiency\/"},{"id":"858","title":"Birt-Hogg-Dub\u00e9 Syndrome *","synonyms":["BHD syndrome","Hornstein-Knickenberg syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/birt-hogg-dube-syndrome\/"},{"id":"200927","title":"S\u00edndrome de Birt-Hogg-Dub\u00e9 *","synonyms":["S\u00edndrome de BHD ","S\u00edndrome de Hornstein-Knickenberg ","Fibrofoliculomas con tricodiscomas y acrocordones"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/birt-hogg-dube-syndrome\/"},{"id":"859","title":"Bj\u00f6rnstad Syndrome *","synonyms":["deafness and pili torti, Bjornstad type","pili torti and nerve deafness; PTND","pili torti-sensorineural hearing loss","pili torti-deafness syndrome","BS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/bjornstad-syndrome\/"},{"id":"255363","title":"S\u00edndrome de Bj\u00f6rnstad *","synonyms":["Sordera y pili torti, tipo Bjornstad ","Pili torti y sordera nerviosa","P\u00e9rdida auditiva neurosensorial del pili torti ","S\u00edndrome de pili torti-sordera","SB"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/bjornstad-syndrome\/"},{"id":"860","title":"Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex *","synonyms":["Ectopia Vesicae"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/bladder-exstrophy-epispadias-cloacal-exstrophy-complex\/"},{"id":"861","title":"Blastomycosis *","synonyms":["Gilchrist's Disease","North American Blastomycosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/blastomycosis\/"},{"id":"862","title":"Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome *","synonyms":["BPES","blepharophimosis syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/blepharophimosis-ptosis-epicanthus-inversus-syndrome\/"},{"id":"863","title":"Bloom Syndrome *","synonyms":["Bloom\u2019s syndrome","Bloom-Torre-Machacek syndrome","BSyn"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/bloom-syndrome\/"},{"id":"260073","title":"S\u00edndrome de Bloom *","synonyms":["Bloom\u2019s syndrome","S\u00edndrome de Bloom-Torre-Machacek ","BSyn"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/bloom-syndrome\/"},{"id":"864","title":"Blue Diaper Syndrome *","synonyms":["Drummond's Syndrome","Hypercalcemia, Familial, with Nephrocalcinosis and Indicanuria"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/blue-diaper-syndrome\/"},{"id":"865","title":"Blue Rubber Bleb Nevus syndrome *","synonyms":["Bean syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/blue-rubber-bleb-nevus-syndrome\/"},{"id":"866","title":"B\u00f6rjeson-Forssman-Lehman Syndrome *","synonyms":["BFLS","BORJ","Borjeson syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/borjeson-forssman-lehman-syndrome\/"},{"id":"867","title":"Botulism *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/botulism\/"},{"id":"153709","title":"Botulismo *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/botulism\/"},{"id":"868","title":"Bowen Disease *","synonyms":["squamous cell carcinoma in situ"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/bowen-disease\/"},{"id":"869","title":"Bowen Hutterite Syndrome *","synonyms":["Bowen-Conradi Hutterite Syndrome","Bowen-Conradi Syndrome","Hutterite Syndrome, Bowen-Conradi Type"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/bowen-hutterite-syndrome\/"},{"id":"870","title":"Bowenoid Papulosis *","synonyms":["BP"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/bowenoid-papulosis\/"},{"id":"871","title":"Branchio Oculo Facial Syndrome *","synonyms":["BOFS","branchio-oculo-facial syndrome, also branchiooculofacial syndrome","hemangiomatous branchial clefts-lip pseudocleft syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/branchio-oculo-facial-syndrome\/"},{"id":"872","title":"Branchiootorenal Spectrum Disorders *","synonyms":["branchiootorenal (BOR) syndrome","branchiootic (BOS) syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/branchio-oto-renal-syndrome\/"},{"id":"873","title":"Organizing Pneumonia *","synonyms":["Epler's pneumonia","bronchiolitis obliterans organizing pneumonia (BOOP)","cryptogenic organizing pneumonia (COP)","idiopathic organizing pneumonia organizing"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/bronchiolitis-obliterans-organizing-pneumonia\/"},{"id":"253846","title":"Neumon\u00eda organizada *","synonyms":["NO ","Neumon\u00eda de Epler ","Bronquiolitis obliterante, neumon\u00eda organizada (BOOP) ","BONO ","Bronquiolitis obliterante con neumon\u00eda organizada ","NOC","Neumon\u00eda organizada criptog\u00e9nica (COP) ","Neumon\u00eda con organizaci\u00f3n criptog\u00e9nica ","Neumon\u00eda organizativa idiop\u00e1tica organizativa "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/bronchiolitis-obliterans-organizing-pneumonia\/"},{"id":"874","title":"Bronchopulmonary Dysplasia *","synonyms":["BPD","chronic lung disease, respiratory outcomes after premature birth"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/bronchopulmonary-dysplasia-bpd\/"},{"id":"875","title":"Brown S\u00e9quard Syndrome *","synonyms":["BSS","Hemiparaplegic Syndrome","Hemisection of the Spinal Cord","Partial Spinal Sensory Syndrome","Spastic Spinal Monoplegia Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/brown-sequard-syndrome\/"},{"id":"876","title":"Brown Syndrome *","synonyms":["Superior Oblique Tendon Sheath Syndrome","Tendon Sheath Adherence, Superior Oblique"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/brown-syndrome\/"},{"id":"877","title":"Brucellosis *","synonyms":["Bang Disease","Brucellemia","Brucelliasis","Cyprus Fever","Febris Melitensis","Febris Sudoralis","Febris Undulans","Fievre Caprine","Gibraltar Fever","Goat Fever","Maltese Fever","Mediterranean Fever, Nonfamilial","Melitensis Septicemia","Melitococcosis","Neapolitan Fever","Phthisis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/brucellosis\/"},{"id":"878","title":"Brugada Syndrome *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/brugada-syndrome\/"},{"id":"259083","title":"S\u00edndrome de Brugada *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/brugada-syndrome\/"},{"id":"879","title":"Budd Chiari Syndrome *","synonyms":["Budd's Syndrome","Chiari-Budd Syndrome","Chiari's Disease","Hepatic Veno-Occlusive Disease","Rokitansky's Disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/budd-chiari-syndrome\/"},{"id":"880","title":"Buerger's Disease *","synonyms":["Inflammatory Occlusive Peripheral Vascular Disease","Occlusive Peripheral Vascular Disease","TAO","Thromboangiitis Obliterans"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/buergers-disease\/"},{"id":"881","title":"Bullous Pemphigoid *","synonyms":["pemphigoid","BP"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/bullous-pemphigoid\/"},{"id":"882","title":"C Syndrome *","synonyms":["Opitz trigonocephaly syndrome","trigonocephaly C syndrome","trigonocephaly syndrome","OTCS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/c-syndrome\/"},{"id":"255239","title":"S\u00edndrome C *","synonyms":["S\u00edndrome de trigonocefalia de Opitz ","S\u00edndrome de trigonocefalia C ","S\u00edndrome de trigonocefalia ","OTC"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/c-syndrome\/"},{"id":"883","title":"CADASIL *","synonyms":["cerebral autosomal dominant arteriopathy w\/subcortical infarcts & leukoencephalopathy","hereditary multi-infarct dementia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cadasil\/"},{"id":"884","title":"Campomelic Syndrome *","synonyms":["Acampomelic campomelic \"Dysplasia\"","Campomelic Dwarfism","Campomelic Dysplasia","Campomelic Syndrome, Long-Limb Type","Camptomelic Dwarfism","Camptomelic Syndrome","Camptomelic Syndrome, Long-Limb Type","CMDI","Dwarfism, Campomelic","SRY-Box 9, SOX9 Mutations Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/campomelic-syndrome\/"},{"id":"885","title":"Camurati-Engelmann Disease *","synonyms":["CED","diaphyseal dysplasia","diaphyseal hyperostosis","progressive diaphyseal dysplasia (PDD)","Engelmann\u2019s disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/camurati-engelmann-disease\/"},{"id":"886","title":"Canavan Disease *","synonyms":["ASPA deficiency","aspartoacylase deficiency","Canavan's leukodystrophy","Canavan-Van Bogaert-Bertrand disease","spongy degeneration of the central nervous system","Van Bogaert-Bertrand syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/canavan-disease\/"},{"id":"888","title":"CARASIL *","synonyms":["cerebral autosomal recessive arteriopathy w\/subcortical infarcts and leukoencephalopathy","Maeda syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/carasil\/"},{"id":"889","title":"Carbamoyl Phosphate Synthetase 1 Deficiency *","synonyms":["carbamoylphosphatase deficiency I","carbamoyl phosphate synthetase deficiency","carbamylphosphatase deficiency I","carbamyl phosphate synthetase 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syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/carney-complex\/"},{"id":"893","title":"Systemic Primary Carnitine Deficiency *","synonyms":["carnitine transporter deficiency","carnitine uptake defect","carnitine uptake deficiency","CUD","CDSP"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/systemic-primary-carnitine-deficiency\/"},{"id":"894","title":"Carnitine Palmitoyltransferase 1A Deficiency *","synonyms":["CPT 1A deficiency","hepatic carnitine palmitoyltransferase 1 deficiency","hepatic CPT1","L-CPT1 deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/carnitine-palmitoyltransferase-1a-deficiency\/"},{"id":"895","title":"Carnosinemia *","synonyms":["carnosinase deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/carnosinemia\/"},{"id":"896","title":"Caroli Disease *","synonyms":["congenital dilatation of intrahepatic bile duct","congenital communicating cavernous ectasia of the intrahepatic biliary tract"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/caroli-disease\/"},{"id":"897","title":"Carpenter Syndrome *","synonyms":["ACPS II","acrocephalopolysyndactyly type II"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/carpenter-syndrome\/"},{"id":"898","title":"Castleman Disease *","synonyms":["angiofollicular lymph node hyperplasia","angiomatous lymphoid","Castleman tumor","giant benign lymphoma","giant lymph node hyperplasia","hamartoma of the lymphatics"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/castlemans-disease\/"},{"id":"899","title":"Cat Eye Syndrome *","synonyms":["CES","chromosome 22, inverted duplication (22pter-22q11)","chromosome 22, partial tetrasomy (22pter-22q11)","chromosome 22, partial trisomy (22pter-22q11)","Schmid-Fraccaro syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cat-eye-syndrome\/"},{"id":"143376","title":"S\u00edndrome del ojo de gato *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/sindrome-del-ojo-de-gato\/"},{"id":"900","title":"Catamenial Pneumothorax *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/catamenial-pneumothorax\/"},{"id":"901","title":"Catel Manzke Syndrome *","synonyms":["Catel-Manzke Type Palatodigital Syndrome","Hyperphalangy-Clinodactyly of Index Finger with Pierre Robin Syndrome","Micrognathia-Digital Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/catel-manzke-syndrome\/"},{"id":"902","title":"Caudal Regression Syndrome *","synonyms":["caudal dysplasia","caudal dysplasia","caudal dysplasia sequence","sacral agenesis, congenital","sacral regression"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/caudal-regression-syndrome\/"},{"id":"211037","title":"S\u00edndrome de la regresi\u00f3n caudal *","synonyms":["Displasia caudal ","Secuencia de displasia caudal","Agenesia sacral cong\u00e9nita ","Regresi\u00f3n sacra cong\u00e9nita ","Regresi\u00f3n sacra "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/caudal-regression-syndrome\/"},{"id":"903","title":"Cavernous Malformation *","synonyms":["cavernoma","cavernous angioma","cavernous hemangioma","cerebral cavernous malformation (CCM)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cavernous-malformation\/"},{"id":"904","title":"CDKL5 Deficiency Disorder *","synonyms":["CDKL5 deficiency","CDKL5 disorder","CDKL5 encephalopathy","CDKL5-related epilepsy","CDKL5-related epileptic encephalopathy","Early infantile epileptic encephalopathy 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ins\u00edpida vasopresina-sensible "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/central-diabetes-insipidus\/"},{"id":"909","title":"Centronuclear Myopathy *","synonyms":["autosomal dominant centronuclear myopathy (AD-CNM)","autosomal recessive centronuclear myopathy (AR-CNM)","CNM"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/centronuclear-myopathy\/"},{"id":"910","title":"Cerebellar Agenesis *","synonyms":["cerebellar aplasia","isolated cerebellar agenesis","subtotal cerebellar agenesis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cerebellar-agenesis\/"},{"id":"211725","title":"Agenesia cerebelar *","synonyms":["Aplasia cerebelar","Agenesia cerebellar aislada","Agenesia cerebelar subtotal ","Ausencia casi total del cerebelo ","Ausencia subtotal del cerebelo"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/cerebellar-agenesis\/"},{"id":"911","title":"Subacute Cerebellar Degeneration *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cerebellar-degeneration-subacute\/"},{"id":"914","title":"Cerebrocostomandibular Syndrome *","synonyms":["CCMS","CCM Syndrome","rib gap defects with micrognathia","cerebro-costo-mandibular syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cerebrocostomandibular-syndrome\/"},{"id":"915","title":"Cerebrotendinous Xanthomatosis *","synonyms":["cerebral cholesterinosis","CTX","sterol 27-hydroxylase deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cerebrotendinous-xanthomatosis\/"},{"id":"916","title":"Cervical Dystonia *","synonyms":["focal dystoniaidiopathic cervical dystonia","isolated (formally primary) cervical dystonia","spasmodic torticollis","spasmodic wryneck","torticollis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cervical-dystonia\/"},{"id":"917","title":"Cervical Teratoma *","synonyms":["primary thyroid teratoma"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cervical-teratoma\/"},{"id":"918","title":"Chandler's Syndrome *","synonyms":["iridocorneal endothelial syndrome","iris atrophy with corneal edema and glaucoma"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chandlers-syndrome\/"},{"id":"919","title":"Charcot-Marie-Tooth Disease *","synonyms":["CMT","hereditary motor and sensory neuropathy (HMSN)","peroneal muscular atrophy","distal hereditary motor neuropathy (dHMN)","hereditary sensory neuropathy (HSN or HSAN)","distal spinal muscular atrophy (DSMA)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/charcot-marie-tooth-disease\/"},{"id":"920","title":"CHARGE Syndrome *","synonyms":["CHARGE association","Hall-Hittner syndrome","coloboma, heart, atresia of the choanae, retardation of growth and development, genital and urinary anomalies, and ear anomalies"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/charge-syndrome\/"},{"id":"270808","title":"S\u00edndrome CHARGE *","synonyms":["Asociaci\u00f3n CHARGE ","S\u00edndrome de Hall-Hittner ","S\u00edndrome de coloboma-defectos card\u00edacos-atresia coanal-retraso del crecimiento y desarrollo-problemas genitourinarios-anomal\u00edas del o\u00eddo"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/charge-syndrome\/"},{"id":"921","title":"Chediak Higashi Syndrome *","synonyms":["Begnez-Cesar's Syndrome","Chediak-Steinbrinck-Higashi Syndrome","CHS","Leukocytic Anomaly 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*","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chilaiditis-syndrome\/"},{"id":"926","title":"Cholangiocarcinoma *","synonyms":["bile duct adenocarcinoma","biliary tract cancer"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cholangiocarcinoma\/"},{"id":"259780","title":"Colangiocarcinoma *","synonyms":["bile duct adenocarcinoma","biliary tract cancer"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/cholangiocarcinoma\/"},{"id":"927","title":"Acute Cholecystitis *","synonyms":["acute acalculous cholecystitis (AAC)","acute calculous cholecystitis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cholecystitis\/"},{"id":"928","title":"Cholera *","synonyms":["Asiatic Cholera","Epidemic Cholera"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cholera\/"},{"id":"929","title":"Cholesteryl Ester Storage Disease *","synonyms":["acid cholesteryl ester hydrolase deficiency, type 2","CESD","cholesterol ester hydrolase deficiency","LAL deficiency, CESD type"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cholesteryl-ester-storage-disease\/"},{"id":"211748","title":"Enfermedad por almacenamiento de \u00e9steres de colesterol *","synonyms":["Deficiencia de \u00e9ster hidrolasa de colesterol \u00e1cido, tipo 2 ","EAEC","Deficiencia de \u00e9ster de colesterol hidrolasa ","Deficiencia de LAL, tipo CESD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/cholesteryl-ester-storage-disease\/"},{"id":"930","title":"Familial Calcium Pyrophosphate Deposition Disease *","synonyms":["chondrocalcinosis 1 (CCAL1)","chondrocalcinosis 2 (CCAL2) "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chondrocalcinosis-familial-articular\/"},{"id":"271353","title":"Deposici\u00f3n familiar de pirofosfato c\u00e1lcico *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/chondrocalcinosis-familial-articular\/"},{"id":"931","title":"Chordoma *","synonyms":["clival chordoma","familial chordoma","intracranial chordoma","sacrococcygeal chordoma","skull base chordoma","spinal chordoma"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chordoma\/"},{"id":"932","title":"Choroideremia *","synonyms":["choroidal sclerosis","progressive choroidal atrophy","progressive tapetochoroidal dystrophy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/choroideremia\/"},{"id":"254212","title":"Coroideremia *","synonyms":["Esclerosis coroidea ","Atrofia coroidea progresiva","Distrofia tapetocoroidea progresiva"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/choroideremia\/"},{"id":"933","title":"Choroiditis, Serpiginous *","synonyms":["Geographic Choroiditis","Geographic Choroidopathy","Geographic Helicoid Peripapillary Choroidopathy (GHPC)","Geographic Serpiginous Choroiditis","Peripapillary Choroidopathy","Serpiginous Choroidopathy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/choroiditis-serpiginous\/"},{"id":"934","title":"Chromosome 10, Distal Trisomy 10q *","synonyms":["chromosome 10, partial trisomy 10q24-qter","chromosome 10, trisomy 10q2","distal duplication 10q","distal trisomy 10q syndrome","dup(10q) syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-10-distal-trisomy-10q\/"},{"id":"935","title":"Chromosome 10, Monosomy 10p *","synonyms":["10p deletion syndrome (partial)","chromosome 10, 10p- partial","chromosome 10, partial deletion (short arm)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-10-monosomy-10p\/"},{"id":"936","title":"Chromosome 11, Partial Monosomy 11q *","synonyms":["11q- syndrome, partial","11q terminal deletion disorder","deletion 11q syndrome, partial","distal 11q monosomy","distal 11q- syndrome","Jacobsen syndrome","JS","monosomy 11q, partial","partial monosomy of long arm of chromosome 11"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-11-partial-monosomy-11q\/"},{"id":"153728","title":"S\u00edndrome de Jacobsen (monosom\u00eda parcial 11q) *","synonyms":["Del(11)(q23.3) ","S\u00edndrome de deleci\u00f3n terminal 11q","Deleci\u00f3n telom\u00e9rica 11q","Deleci\u00f3n terminal 11q ","Monosom\u00eda 11qter ","Del(11)(qter) ","SJ","Monosom\u00eda terminal 11q ","Monosom\u00eda parcial del brazo largo del cromosoma 11"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/chromosome-11-partial-monosomy-11q\/"},{"id":"937","title":"Chromosome 11, Partial Trisomy 11q *","synonyms":["11q Partial Trisomy","Chromosome 11, Partial Trisomy 11q13-qter","Chromosome 11, Partial Trisomy 11q21-qter","Chromosome 11, Partial Trisomy 11q23-qter","Distal Trisomy 11q","Partial Trisomy 11q","Trisomy 11q, Partial"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-11-partial-trisomy-11q\/"},{"id":"938","title":"Chromosome 13, Partial Monosomy 13q *","synonyms":["13q- Syndrome, Partial","Deletion 13q Syndrome, Partial","Monosomy 13q, Partial","Partial Monosomy of the Long Arm of Chromosome 13"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-13-partial-monosomy-13q\/"},{"id":"939","title":"Chromosome 14 Ring *","synonyms":["r14","Ring 14","Ring Chromosome 14"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-14-ring\/"},{"id":"940","title":"Chromosome 14, Trisomy Mosaic *","synonyms":["Trisomy 14 Mosaic","Trisomy 14 Mosaicism Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-14-trisomy-mosaic\/"},{"id":"254901","title":"Mosaico de la trisom\u00eda del cromosoma 14 *","synonyms":["Mosaico de trisom\u00eda 14 ","S\u00edndrome de mosaicismo de trisom\u00eda 14"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/chromosome-14-trisomy-mosaic\/"},{"id":"941","title":"Chromosome 15 Ring *","synonyms":["r15","Ring 15","Ring 15, Chromosome","Ring 15, Chromosome (mosaic pattern)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-15-ring\/"},{"id":"942","title":"Chromosome 15, Distal Trisomy 15q *","synonyms":["Chromosome 15, Trisomy 15q2","Distal Duplication 15q","Partial Duplication 15q Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-15-distal-trisomy-15q\/"},{"id":"943","title":"Chromosome 18 Ring *","synonyms":["r 18","Ring 18","Ring Chromosome 18"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-18-ring\/"},{"id":"944","title":"Chromosome 18, Monosomy 18p *","synonyms":["18p Deletion Syndrome","18p- Syndrome","Del(18p) Syndrome","Monosomy 18p Syndrome","Short Arm 18 Deletion Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-18-monosomy-18p\/"},{"id":"945","title":"Chromosome 18, Tetrasomy 18p *","synonyms":["Tetrasomy, Short Arm of Chromosome 18"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-18-tetrasomy-18p\/"},{"id":"946","title":"Chromosome 18q- Syndrome *","synonyms":["18q Deletion Syndrome","18q- Syndrome","Chromosome 18 Long Arm Deletion Syndrome","Chromosome 18, Monosomy 18Q","Del(18q) Syndrome","Monosomy 18q Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-18q-syndrome\/"},{"id":"947","title":"Chromosome 21 Ring *","synonyms":["r21","Ring 21","Ring 21, Chromosome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-21-ring\/"},{"id":"948","title":"Chromosome 22 Ring *","synonyms":["r(22)","ring 22","ring 22, chromosome - Phelan-McDermid syndrome (individuals with a ring 22)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-22-ring\/"},{"id":"258407","title":"S\u00edndrome del cromosoma 22q en anillo *","synonyms":["Anillo 22 ","Cromosoma 22 en anillo ","S\u00edndrome r(22)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/chromosome-22-ring\/"},{"id":"949","title":"Mosaic Trisomy 22 *","synonyms":["mosaic trisomy chromosome 22","trisomy 22 mosaicism"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-22-trisomy-mosaic\/"},{"id":"218801","title":"Trisom\u00eda 22 en mosaico *","synonyms":["Trisom\u00eda en mosaico del cromosoma 22","Mosaicismo de la trisom\u00eda 22"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/chromosome-22-trisomy-mosaic\/"},{"id":"950","title":"Chromosome 22q11.2 Deletion Syndrome *","synonyms":["autosomal dominant Opitz G\/BBB syndrome","Cayler cardiofacial syndrome","conotruncal anomaly face syndrome","DiGeorge syndrome","Shprintzen syndrome","velocardiofacial syndrome","22q11.2DS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-22q11-2-deletion-syndrome\/"},{"id":"153092","title":"S\u00edndrome de deleci\u00f3n del cromosoma 22q11.2 *","synonyms":["SD22q11.2","S\u00edndrome de DiGeorge","S\u00edndrome de Opitz G\/BBB autos\u00f3mico dominante","S\u00edndrome de Shprintzen","S\u00edndrome cardiofacial de Cayle","S\u00edndrome velocardiofacial ","S\u00edndrome facial de anomal\u00eda conotruncal"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/chromosome-22q11-2-deletion-syndrome\/"},{"id":"951","title":"Chromosome 3, Monosomy 3p *","synonyms":["Chromosome 3, Deletion of Distal 3p","Chromosome 3, Distal 3p Monosomy","Monosomy 3p"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-3-monosomy-3p\/"},{"id":"952","title":"Chromosome 3, Trisomy 3q2 *","synonyms":["Chromosome 3, Distal 3q2 Duplication","Chromosome 3, Distal 3q2 Trisomy","Partial Duplication 3q Syndrome","Partial Trisomy 3q Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-3-trisomy-3q2\/"},{"id":"953","title":"Chromosome 4q Deletion *","synonyms":["chromosome 4 long arm deletion","chromosome 4q- syndrome","deletion 4q","monosomy 4q"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-4-monosomy-4q\/"},{"id":"954","title":"Chromosome 4, Monosomy Distal 4q *","synonyms":["4q Deletion Syndrome, Partial","Chromosome 4, 4q Terminal Deletion Syndrome","Chromosome 4, Partial Monosomy 4q","Del(4q) Syndrome, Partial","Distal 4q Monosomy","Distal 4q- Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-4-monosomy-distal-4q\/"},{"id":"955","title":"Chromosome 4, Partial Trisomy Distal 4q *","synonyms":["Chromosome 4, Partial Trisomy 4q (4q21-qter to 4q32-qter, included)","Chromosome 4, Partial Trisomy 4q (4q2 and 4q3, included)","Distal 4q Trisomy","Dup(4q) Syndrome, Partial","Duplication 4q Syndrome, Partial","Partial Trisomy 4q Sayndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-4-partial-trisomy-distal-4q\/"},{"id":"956","title":"Chromosome 4, Trisomy 4p *","synonyms":["Chromosome 4, Partial Trisomy 4p","Dup(4p) Syndrome","Duplication 4p Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-4-trisomy-4p\/"},{"id":"957","title":"Chromosome 5, Trisomy 5p *","synonyms":["chromosome 5, trisomy 5p, complete (5p11-ter), included","chromosome 5, trisomy 5p, partial, included","dup(5p) syndrome","duplication 5p syndrome","trisomy 5p","supernumerary marker chromosome 5p","r(5)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-5-trisomy-5p\/"},{"id":"958","title":"Chromosome 6 Ring *","synonyms":["r6","Ring 6","Ring 6, Chromosome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-6-ring\/"},{"id":"959","title":"Chromosome 6, Partial Trisomy 6q *","synonyms":["6q+ Syndrome, Partial","Chromosome 6, Trisomy 6q2","Distal Duplication 6q","Distal Trisomy 6q","Duplication 6q, Partial","Trisomy 6q, Partial","Trisomy 6q Syndrome, Partial"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-6-partial-trisomy-6q\/"},{"id":"960","title":"Chromosome 7, Partial Monosomy 7p *","synonyms":["Chromosome 7, 7p Deletion Syndrome, Partial","Chromosome 7, Partial Deletion of Short Arm","Del(7p) Syndrome, Partial","Interstitial 7p Monosomy, Included","Partial 7p Monosomy","Terminal 7p Monosomy, Included","Terminal 7p Monosomy, Included"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-7-partial-monosomy-7p\/"},{"id":"961","title":"Chromosome 8, Monosomy 8p *","synonyms":["8p- Syndrome, Partial","Chromosome 8, 8p Deletion Syndrome, Partial","Chromosome 8, Partial Deletion of Short Arm","Chromosome 8, Partial Monosomy 8p","Del(8p) Syndrome, Partial","Distal 8p Monosomy","Partial 8p Monosomy","Terminal 8p- Syndrome (8p21 to 8p23-pter), Included"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-8-monosomy-8p\/"},{"id":"962","title":"Chromosome 9 Ring *","synonyms":["R9","Ring 9","Ring 9, Chromosome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-9-ring\/"},{"id":"963","title":"Chromosome 9, Partial Monosomy 9p *","synonyms":["9p Partial Monosomy","9p- Syndrome, Partial","Chromosome 9, Partial Monosomy 9p22","Chromosome 9, Partial Monosomy 9p22-pter","Del(9p) Syndrome, Partial","Deletion 9p Syndrome, Partial","Distal 9p- Syndrome","Distal Monosomy 9p","Monosomy 9p, Partial","Partial Deletion of Short Arm of Chromosome 9"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-9-partial-monosomy-9p\/"},{"id":"964","title":"Tetrasomy 9p *","synonyms":["chromosome 9, tetrasomy 9p ","tetrasomy, short arm of chromosome 9","chromosome 9p tetrasomy","isochromosome 9p","tetrasomy of short arm of chromosome 9","tetrasomy type 9p"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-9-tetrasomy-9p\/"},{"id":"258383","title":"Tetrasom\u00eda 9p *","synonyms":["Isocromosoma 9p"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/chromosome-9-tetrasomy-9p\/"},{"id":"965","title":"Trisomy 9p (Multiple Variants) *","synonyms":["complete trisomy 9P","partial trisomy 9p, included","trisomy 9pter-q11-13, included","trisomy 9pter-q22-32, included","dup(9p) syndrome","cuplication 9p syndrome","trisomy 9P syndrome (partial), included"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-9-trisomy-9p-multiple-variants\/"},{"id":"966","title":"Mosaic Trisomy 9 *","synonyms":["trisomy 9 mosaic","trisomy 9 mosaicism","trisomy 9 mosaicism syndrome","mosaic trisomy 9 syndrome","chromosome 9, trisomy mosaic"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chromosome-9-trisomy-mosaic\/"},{"id":"150976","title":"Trisom\u00eda 9 en mosaico *","synonyms":["Trisom\u00eda del cromosoma 9 en mosaico","S\u00edndrome de trisom\u00eda 9 en mosaico","Mosaico de trisomia 9","Cromosoma 9, trisomia mosaico"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/chromosome-9-trisomy-mosaic\/"},{"id":"967","title":"Chronic Eosinophilic Pneumonia *","synonyms":["Carrington's disease","CEP","ICEP","idiopathic chronic eosinophilic pneumonia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chronic-eosinophilic-pneumonia\/"},{"id":"968","title":"Chronic Granulomatous Disease *","synonyms":["CGD","chronic dysphagocytosis","chronic granulomatous disease","congenital dysphagocytosis","fatal granulomatous disease of childhood","granulomatosis, chronic, familial","granulomatosis, septic, progressive","impotent neutrophil syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chronic-granulomatous-disease\/"},{"id":"255986","title":"Enfermedad granulomatosa cr\u00f3nica *","synonyms":["CGD ","Disfagocitosis cr\u00f3nica ","Enfermedad granulomatosa cr\u00f3nica ","Disfagocitosis cong\u00e9nita ","Enfermedad granulomatosa mortal de la infancia ","Granulomatosis cr\u00f3nica familiar ","Granulomatosis s\u00e9ptica progresiva ","S\u00edndrome de neutr\u00f3filos impotentes"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/chronic-granulomatous-disease\/"},{"id":"969","title":"Chronic Inflammatory Demyelinating Polyneuropathy *","synonyms":["CIDP","chronic inflammatory demyelinating polyradiculoneuropathy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chronic-inflammatory-demyelinating-polyneuropathy\/"},{"id":"970","title":"Chronic Intestinal Pseudo-Obstruction *","synonyms":["chronic idiopathic intestinal pseudo-obstruction","CIIP","CIP","pseudo-obstruction syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chronic-intestinal-pseudo-obstruction\/"},{"id":"971","title":"Chronic Lymphocytic Leukemia *","synonyms":["chronic lymphoid leukemia","CLL","SLL (small lymphocytic lymphoma)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chronic-lymphocytic-leukemia\/"},{"id":"972","title":"Chronic Myelogenous Leukemia *","synonyms":["CGL","chronic granulocytic leukemia","chronic myelocytic leukemia","chronic myeloid leukemia","CML"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chronic-myelogenous-leukemia\/"},{"id":"973","title":"Eosinophilic Granulomatosis with Polyangiitis *","synonyms":["allergic angiitis and granulomatosis","allergic granulomatosis","allergic granulomatosis and angiitis","Churg-Strauss vasculitis","Churg-Strauss syndrome","CSS","EGPA"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/churg-strauss-syndrome\/"},{"id":"273817","title":"Granulomatosis Eosinof\u00edlica con Poliange\u00edtis *","synonyms":["Angiitis y granulomatosis al\u00e9rgica ","Granulomatosis al\u00e9rgica","S\u00edndrome de Churg-Strauss ","Vasculitis de Churg-Strauss (VCS)","GEPA","EGPA"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/churg-strauss-syndrome\/"},{"id":"974","title":"Cicatricial Alopecia *","synonyms":["alopecia cicatrisata","scarring alopecia","scarring hair loss"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cicatricial-alopecia\/"},{"id":"975","title":"Ciguatera Fish Poisoning *","synonyms":["Ciguatera Poisoning","Ichthyosarcotoxism"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ciguatera-fish-poisoning\/"},{"id":"976","title":"Citrullinemia Type 1 *","synonyms":["argininosuccinate synthetase deficiency","argininosuccinic acid synthetase deficiency","ASS deficiency","citrullinemia, classic","CTLN1"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/citrullinemia-type-1\/"},{"id":"977","title":"Classic Hereditary Hemochromatosis *","synonyms":["bronze diabetes","classic hemochromatosis","hemochromatosis type I","hemosiderosis","HFE-related hemochromatosis","HH","primary hemochromatosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/classic-hereditary-hemochromatosis\/"},{"id":"978","title":"Cleidocranial Dysplasia *","synonyms":["cleidocranial dysostosis","dysplasia, cleidocranial","cysplasia, osteodental","Marie-Sainton Disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cleidocranial-dysplasia\/"},{"id":"153731","title":"Displasia cleidocraneal *","synonyms":["Disostosis cleidocraneal ","Displasia osteodental","Enfermedad de Marie-Sainton"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/cleidocranial-dysplasia\/"},{"id":"979","title":"CLOVES Syndrome *","synonyms":["CLOVE syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cloves-syndrome\/"},{"id":"255090","title":"S\u00edndrome de CLOVES *","synonyms":["S\u00edndrome de CLOVE"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/cloves-syndrome\/"},{"id":"981","title":"Coats Disease *","synonyms":["Coats syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/coats-disease\/"},{"id":"982","title":"Cockayne Syndrome *","synonyms":["CS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cockayne-syndrome\/"},{"id":"983","title":"Coffin Lowry Syndrome *","synonyms":["Coffin Syndrome","CLS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/coffin-lowry-syndrome\/"},{"id":"984","title":"Coffin-Siris Syndrome *","synonyms":["CSS","fifth digit syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/coffin-siris-syndrome\/"},{"id":"254372","title":"S\u00edndrome de Coffin Siris *","synonyms":["SCS","S\u00edndrome de Coffin Siris ","S\u00edndrome del quinto d\u00edgito"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/coffin-siris-syndrome\/"},{"id":"985","title":"Cogan-Reese Syndrome *","synonyms":["ICE syndrome, Cogan-Reese type","iridocorneal endothelial (ICE) syndrome, Cogan-Reese type","iris naevus syndrome","iris nevus syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cogan-reese-syndrome\/"},{"id":"273316","title":"S\u00edndrome de Cogan-Reese *","synonyms":["S\u00edndrome ICE, Tipo Cogan-Reese ","S\u00edndrome endotelial iridocorneal (ICE), tipo Cogan-Reese ","S\u00edndrome de nevus del iris"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/cogan-reese-syndrome\/"},{"id":"986","title":"Cohen Syndrome *","synonyms":["Pepper Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cohen-syndrome\/"},{"id":"153733","title":"S\u00edndrome de Cohen *","synonyms":["S\u00edndrome de Pepper"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/cohen-syndrome\/"},{"id":"988","title":"Collagen Type VI-Related Disorders *","synonyms":["benign congenital myopathy with contractures","Ullrich disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/collagen-type-vi-related-disorders\/"},{"id":"989","title":"Colorado Tick Fever *","synonyms":["CTF","Mountain Fever","Mountain Tick Fever"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/colorado-tick-fever\/"},{"id":"990","title":"Common Variable Immune Deficiency *","synonyms":["acquired hypogammaglobulinemia","common variable hypogammaglobulinemia","common variable immunodeficiency","CVI","CVID","immunodeficiency, common variable","late-onset immunoglobulin deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/common-variable-immune-deficiency\/"},{"id":"991","title":"Cone Dystrophy *","synonyms":["retinal cone degeneration","retinal cone dystrophy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cone-dystrophy\/"},{"id":"255763","title":"Distrofia progresiva de conos *","synonyms":["Distrofia de conos ","Degeneraci\u00f3n del cono de la retina "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/cone-dystrophy\/"},{"id":"992","title":"Congenital Adrenal Hyperplasia *","synonyms":["adrenogenital syndrome","CAH"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/congenital-adrenal-hyperplasia\/"},{"id":"993","title":"Congenital Bilateral Perisylvian Syndrome *","synonyms":["CBPS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/congenital-bilateral-perisylvian-syndrome\/"},{"id":"994","title":"Congenital Central Hypoventilation Syndrome *","synonyms":["congenital failure of respiratory drive","CCHS","HADDAD syndrome","Ondine\u2019s curse"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/congenital-central-hypoventilation-syndrome\/"},{"id":"995","title":"Congenital Disorders of Glycosylation *","synonyms":["CDG","CDG syndrome","carbohydrate-deficient glycoprotein syndromes"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/congenital-disorders-of-glycosylation\/"},{"id":"143383","title":"Trastornos cong\u00e9nitos de la glicosilaci\u00f3n (2021) *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/trastornos-congenitos-de-la-glicosilacion-2021\/"},{"id":"996","title":"Congenital Fiber Type Disproportion *","synonyms":["CFTD","CFTDM","congenital myopathy with fiber-type disproportion"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/congenital-fiber-type-disproportion\/"},{"id":"259631","title":"Miopat\u00eda cong\u00e9nita por desproporci\u00f3n del tipo de fibra *","synonyms":["CFTDM"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/congenital-fiber-type-disproportion\/"},{"id":"997","title":"Congenital Fibrosis of the Extraocular Muscles *","synonyms":["congenital fibrosis syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/congenital-fibrosis-of-the-extraocular-muscles\/"},{"id":"998","title":"Congenital Generalized Lipodystrophy *","synonyms":["Berardinelli-Seip syndrome","Berardinelli Seip congenital lipodystrophy","BSCL","CGL","congenital lipoatrophic diabetes"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/congenital-generalized-lipodystrophy\/"},{"id":"255708","title":"Lipodistrofia generalizada cong\u00e9nita *","synonyms":["S\u00edndrome de Berardinelli-Seip ","Lipodistrofia cong\u00e9nita de Berardinelli Seip","BSCL"," CGL ","Diabetes lipoatr\u00f3fica cong\u00e9nita"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/congenital-generalized-lipodystrophy\/"},{"id":"999","title":"Congenital Hyperinsulinism *","synonyms":["CHI","familial hyperinsulinism","HI","islet cell dysregulation syndrome","nesidioblastosis (antiquated)","persistent hyperinsulinemic hypoglycemia of infancy (PHHI)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/congenital-hyperinsulinism\/"},{"id":"1000","title":"Congenital Lactic Acidosis *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/congenital-lactic-acidosis\/"},{"id":"1001","title":"Congenital Muscular Dystrophy *","synonyms":["CMD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/congenital-muscular-dystrophy\/"},{"id":"1002","title":"Congenital Pulmonary Lymphangiectasia *","synonyms":["CPL","PPL","primary pulmonary lymphangiectasia","pulmonary cystic lymphangiectasis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/congenital-pulmonary-lymphangiectasia\/"},{"id":"1003","title":"Congenital Varicella Syndrome *","synonyms":["Fetal Effects of Chickenpox","Fetal Effects of Varicella Zoster Virus","Fetal Varicella Infection","Fetal Varicella Zoster Syndrome","Varicella Embryopathy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/congenital-varicella-syndrome\/"},{"id":"1004","title":"Congenital Type 1 Plasminogen Deficiency *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/congenital-plasminogen-deficiency\/"},{"id":"256209","title":"Deficiencia cong\u00e9nita de plasmin\u00f3geno tipo I *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/congenital-plasminogen-deficiency\/"},{"id":"1005","title":"Conradi H\u00fcnermann Syndrome *","synonyms":["CDPXD2","CDPX2","X-linked dominant chondrodysplasia punctata 2","Conradi-Hunermann-Happle syndrome","Happle syndrome","chondrodysplasia punctata type 2"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/conradi-hunermann-syndrome\/"},{"id":"1006","title":"Functional Neurological Disorder *","synonyms":["functional neurological symptom disorder","functional movement disorder","conversion disorder","psychogenic seizures \/ movement disorder","dissociative seizures \/ motor disorder","non-epileptic seizures","FND","dissociative neurological symptoms disorder"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fnd\/"},{"id":"253840","title":"Trastorno neurol\u00f3gico funcional *","synonyms":["Trastorno de s\u00edntomas neurol\u00f3gicos funcionales"," Trastorno del movimiento funcional "," Desorden de conversi\u00f3n"," Convulsiones no epil\u00e9pticas ","Convulsiones psic\u00f3genas \/ trastorno del movimiento","Convulsiones disociativas \/ trastorno motor ","FND","Trastorno de s\u00edntomas neurol\u00f3gicos disociativos"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/fnd\/"},{"id":"1007","title":"Cor Triatriatum *","synonyms":["Cor Triatriatum Sinistrum","Triatrial Heart"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cor-triatriatum\/"},{"id":"1008","title":"Corneal Dystrophies *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/corneal-dystrophies\/"},{"id":"1009","title":"Cornelia de Lange Syndrome *","synonyms":["BDLS","Brachmann-de Lange syndrome","CdLS","de Lange syndrome","Cornelia de Lange syndrome spectrum"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cornelia-de-lange-syndrome\/"},{"id":"1010","title":"Corticobasal Degeneration *","synonyms":["CBD","CBGD","cortical basal ganglionic degeneration","cortical basal ganglionic degeneration"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/corticobasal-degeneration\/"},{"id":"254351","title":"Degeneraci\u00f3n corticobasal *","synonyms":["CBD","Degeneraci\u00f3n ganglionar basal cortical"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/corticobasal-degeneration\/"},{"id":"1011","title":"Costello Syndrome *","synonyms":["faciocutaneoskeletal syndrome","FCS syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/costello-syndrome\/"},{"id":"1012","title":"Craniofrontonasal Dysplasia *","synonyms":["CFND","craniofrontonasal dysostosis","craniofrontonasal syndrome","CFNS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/craniofrontonasal-dysplasia\/"},{"id":"1013","title":"Craniometaphyseal Dysplasia *","synonyms":["CMD","Jackson type CMD","osteochondrodysplasia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/craniometaphyseal-dysplasia\/"},{"id":"1014","title":"Creutzfeldt-Jakob Disease *","synonyms":["CJD","Jakob-Creutzfeldt Disease","Jakob's Disease","subacute spongiform encephalopathy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/creutzfeldt-jakob-disease\/"},{"id":"255792","title":"Enfermedad de Creutzfeldt-Jakob *","synonyms":["ECJ ","Enfermedad de Jakob-Creutzfeldt SUBDIVISIONES ","Enfermedad de Jacob ","Encefalopat\u00eda espongiforme subaguda"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/creutzfeldt-jakob-disease\/"},{"id":"1015","title":"Cri du Chat Syndrome *","synonyms":["5p- syndrome (\u201c5p minus\u201d)","cat's cry syndrome","CdCS","Lejeune syndrome","monosomy 5p","deletion 5p"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cri-du-chat-syndrome\/"},{"id":"271414","title":"S\u00edndrome de Cri du Chat *","synonyms":["S\u00edndrome 5p- (\u201c5p menos\u201d) ","S\u00edndrome del llanto del gato ","CDCS","S\u00edndrome de lejeune ","Monosom\u00eda 5p","Deleci\u00f3n 5p"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/cri-du-chat-syndrome\/"},{"id":"1016","title":"Crigler Najjar Syndrome *","synonyms":["familial nonhemolytic unconjugated hyperbilirubinemia","hereditary unconjugated hyperbilirubinemia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/crigler-najjar-syndrome\/"},{"id":"1017","title":"Cronkhite-Canada Syndrome *","synonyms":["allergic granulomatous angiitis of Cronkhite-Canada","Canada-Cronkhite disease","CCD","CCS","gastrointestinal polyposis and ectodermal changes","polyposis, skin pigmentation, alopecia, and fingernail changes"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cronkhite-canada-syndrome\/"},{"id":"1018","title":"Crouzon Syndrome *","synonyms":["craniofacial dysostosis","craniostenosis, Crouzon type","Crouzon craniofacial dysostosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/crouzon-syndrome\/"},{"id":"156361","title":"S\u00edndrome de Crouzon *","synonyms":["Disostosis craneofacial","Craneoestenosis, tipo Crouzon ","Disostosis craneofacial de Crouzon"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/crouzon-syndrome\/"},{"id":"1019","title":"Cryptococcosis *","synonyms":["Busse-Buschke Disease","Cryptococcic Meningitis","Cryptococcosis Lung","Cryptococcosis Skin","European Blastomycosis","Torular Meningitis","Torulosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cryptococcosis\/"},{"id":"1020","title":"Cushing Syndrome *","synonyms":["hypercortisolism","Cushing's syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cushing-syndrome\/"},{"id":"1021","title":"Cutaneous T-Cell Lymphomas *","synonyms":["CTCL"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cutaneous-t-cell-lymphomas\/"},{"id":"1022","title":"Cutis Laxa *","synonyms":["Elastolysis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cutis-laxa\/"},{"id":"1023","title":"Cutis Marmorata Telangiectatica Congenita *","synonyms":["CMTC","Van Lohuizen syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cutis-marmorata-telangiectatica-congenita\/"},{"id":"1024","title":"Cyclic Neutropenia *","synonyms":["CN","CyN","cyclic hematopoiesis","human cyclic neutropenia","periodic neutropenia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cyclic-neutropenia\/"},{"id":"1025","title":"Cyclic Vomiting Syndrome *","synonyms":["adult cyclic vomiting syndrome","abdominal migraine","childhood cyclic vomiting","CVS","cyclical vomiting","periodic syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cyclic-vomiting-syndrome\/"},{"id":"1026","title":"Cystic Fibrosis *","synonyms":["CF","fibrocystic disease of pancreas","mucoviscidosis","pancreatic fibrosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cystic-fibrosis\/"},{"id":"142832","title":"Fibrosis qu\u00edstica *","synonyms":["FC","enfermedad fibroqu\u00edstica del p\u00e1ncreas","mucoviscidosis","fibrosis pancre\u00e1tica"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/fibrosis-quistica\/"},{"id":"1027","title":"Cysticercosis *","synonyms":["neurocysticercosis (NCC)","solitary cysticercus granuloma"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cysticercosis\/"},{"id":"1028","title":"Cystinosis *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cystinosis\/"},{"id":"258930","title":"Cistinosis *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/cystinosis\/"},{"id":"1029","title":"Cystinuria *","synonyms":["CSNU","cystinuria-lysinuria"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cystinuria\/"},{"id":"1030","title":"Cytochrome C Oxidase Deficiency *","synonyms":["complex IV deficiency","COX deficiency","deficiency of mitochondrial respiratory chain complex IV"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cytochrome-c-oxidase-deficiency\/"},{"id":"1031","title":"Cytomegalovirus Infection 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Luschka-Magendie"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/malformacion-de-dandy-walker\/"},{"id":"1033","title":"Danon Disease *","synonyms":["Antopol disease","glycogen storage cardiomyopathy","glycogen storage disease type IIB","GSD IIB","lysosomal glycogen storage disease without acid maltase deficiency","pseudoglycogenosis II","vacuolar cardiomyopathy and myopathy, X-linked"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/danon-disease\/"},{"id":"156672","title":"Enfermedad de Danon *","synonyms":["Enfermedad de Antopol ","Miocardiopat\u00eda por almacenamiento de gluc\u00f3geno ","Enfermedad por almacenamiento de gluc\u00f3geno tipo IIB GSD IIB","GSD IIB","Enfermedad de almacenamiento de gluc\u00f3geno lisosomal sin deficiencia de maltasa \u00e1cida","Pseudoglucogenosis II","Miocardiopat\u00eda vacuolar y miopat\u00eda ligada al cromosoma X"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/danon-disease\/"},{"id":"1034","title":"De Barsy Syndrome *","synonyms":["autosomal recessive cutis laxa type 3 (ARCL3)","corneal clouding-cutis laxa-intellectual disability","DBS","De Barsy-Moens-Dierckx syndrome","progeroid syndrome of De Barsy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/de-barsy-syndrome\/"},{"id":"1035","title":"De Sanctis Cacchione Syndrome *","synonyms":["Xerodermic Idiocy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/de-sanctis-cacchione-syndrome\/"},{"id":"1036","title":"Degos Disease *","synonyms":["Degos-Kohlmeier disease","Degos syndrome","Kohlmeier-Degos disease \/ K\u00f6hlmeier-Degos disease","malignant atrophic papulosis","MAP","papulosis atrophicans maligna","Degos's malignant atrophic papulosis","atrophic papulosis, malignant","K\u00f6hlmeier-Degos-Delort-Tricort syndrome","erythrokeratoderma en cocardes","genodermatose en cocardes","lethal cutaneous and gastrointestinal arteriolar thrombosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/degos-disease\/"},{"id":"157374","title":"Enfermedad de Degos *","synonyms":["Enfermedad de Degos-Kohlmeier ","S\u00edndrome de Degos ","Enfermedad de Kohlmeier-Degos \/ Enfermedad de K\u00f6hlmeier-Degos","Papulosis atr\u00f3fica maligna","MAPA","Papulosis atr\u00f3fica maligna","Papulosis atr\u00f3fica maligna de Degos","Atrophic papulosis, malignant","S\u00edndrome de K\u00f6hlmeier-Degos-Delort-Tricort ","Eritroqueratodermia en cocardes","Genodermatose en cocardes","Trombosis arteriolar cut\u00e1nea y gastrointestinal letal"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/degos-disease\/"},{"id":"1037","title":"Dejerine-Sottas Syndrome *","synonyms":["hereditary motor sensory neuropathy type III, HSMN type 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dystonia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/dystonia\/"},{"id":"1074","title":"Asphyxiating Thoracic Dystrophy *","synonyms":["asphyxiating thoracic dysplasia","ATD","Jeune syndrome","thoracic-pelvic-phalangeal dystrophy","asphyxiating thoracic chondrodystrophy","chondroectodermal dysplasia-like syndrome","infantile thoracic dystrophy","Jeune thoracic dystrophy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/dystrophy-asphyxiating-thoracic\/"},{"id":"1075","title":"Myotonic Dystrophy *","synonyms":["Curschmann-Batten-Steinert syndrome","DM","dystrophia myotonia","myotonia atrophica","Steinert disease","myotonic muscular dystrophy","Proximal myotonic myopathy (PROMM)","Ricker syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/dystrophy-myotonic\/"},{"id":"1076","title":"Eales Disease *","synonyms":["Eales Retinopathy","Idiopathic Peripheral 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placoid pigment epitheliopathy","AMPPE","APMPPE","Multifocal placoid pigment epitheliopathy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/epitheliopathy-acute-posterior-multifocal-placoid-pigment\/"},{"id":"1102","title":"Erdheim Chester Disease *","synonyms":["ECD","lipoid granulomatosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/erdheim-chester-disease\/"},{"id":"250498","title":"Enfermedad de Erdheim-Chester *","synonyms":["Granulomatosis lipoidea"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/erdheim-chester-disease\/"},{"id":"1104","title":"Erythema Multiforme *","synonyms":["Dermatostomatitis, Erythema Multiforme Type","Erythema Multiforme Bullosum","Erythema Polymorphe, Erythema Multiforme Type","Febrile Mucocutaneous Syndrome","Herpes Iris, Erythema Multiforme 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without tracheoesophageal fistula","esophageal atresia","tracheoesophageal fistula","tracheoesophageal fistula with or without esophageal atresia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/esophageal-atresia-andor-tracheoesophageal-fistula\/"},{"id":"1109","title":"Essential Iris Atrophy *","synonyms":["ICE syndrome, essential iris atrophy type","iridocorneal endothelial (ICE) syndrome, essential iris atrophy","progressive essential iris atrophy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/essential-iris-atrophy\/"},{"id":"1110","title":"Essential Thrombocythemia *","synonyms":["essential hemorrhagic thrombocythemia","essential thrombocytosis","ET","idiopathic thrombocythemia","idiopathic thrombocytosis","primary thrombocythemia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/essential-thrombocythemia\/"},{"id":"1112","title":"Evans Syndrome *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/evans-syndrome\/"},{"id":"1113","title":"Ewing Sarcoma *","synonyms":["EFT","Ewing family of tumors","Ewing's Sarcoma","Ewing tumor","TEF","tumor of the Ewing family (TEF)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ewing-sarcoma\/"},{"id":"1114","title":"Biliary Atresia *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/extrahepatic-biliary-atresia\/"},{"id":"1115","title":"Fabry Disease *","synonyms":["alpha-galactosidase A deficiency","Anderson-Fabry disease","angiokeratoma corporis diffusum","angiokeratoma diffuse","GLA deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fabry-disease\/"},{"id":"1116","title":"Facioscapulohumeral Muscular Dystrophy *","synonyms":["facio-scapulo-humeral dystrophy","FMD","FSH","FSHD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/facioscapulohumeral-muscular-dystrophy\/"},{"id":"1117","title":"Factor VII Deficiency *","synonyms":["Alexander's disease","congenital factor VII deficiency","inherited factor VII deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/factor-vii-deficiency\/"},{"id":"1118","title":"Factor XI Deficiency *","synonyms":["haemophilia C","hemophilia C","plasma thromboplastin antecedent deficiency","PTA deficiency","Rosenthal syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/factor-xi-deficiency\/"},{"id":"1119","title":"Factor XII Deficiency *","synonyms":["F12 deficiency","HAF deficiency","Hageman factor deficiency","Hageman trait"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/factor-xii-deficiency\/"},{"id":"1120","title":"Factor XIII Deficiency *","synonyms":["congenital factor XIII deficiency","fibrin stabilizing factor deficiency","inherited factor XIII deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/factor-xiii-deficiency\/"},{"id":"1121","title":"Familial Adenomatous Polyposis *","synonyms":["adenomatous polyposis of the colon (APC)","familial multiple polyposis","FAP","hereditary polyposis coli","multiple polyposis of the colon"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/familial-adenomatous-polyposis\/"},{"id":"1122","title":"Familial Cold Autoinflammatory Syndrome *","synonyms":["familial cold urticaria","FCAS","FCU"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/familial-cold-autoinflammatory-syndrome\/"},{"id":"1123","title":"Familial Encephalopathy with Neuroserpin Inclusion Bodies *","synonyms":["familial encephalopathy with Collins bodies","FENIB"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/familial-encephalopathy-with-neuroserpin-inclusion-bodies\/"},{"id":"1124","title":"Familial Eosinophilic Cellulitis *","synonyms":["Eosinophilic Cellulitis","Granulomatous Dermatitis with Eosinophilia","Wells syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/familial-eosinophilic-cellulitis\/"},{"id":"1125","title":"Homozygous Familial Hypercholesterolemia *","synonyms":["HoFH"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/familial-hypercholesterolemia\/"},{"id":"196063","title":"Hipercolesterolemia familiar *","synonyms":["HF"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/familial-hypercholesterolemia\/"},{"id":"1126","title":"Familial Hypophosphatemia *","synonyms":["hereditary type I hypophosphatemia (HPDR I)","hereditary type II hypophosphatemia (HPDR II)","hypophosphatemic D-resistant rickets I","hypophosphatemic D-resistant rickets II","phosphate diabetes","X-linked hypophosphatemia","XLH","X-linked vitamin D-resistant rickets"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/familial-hypophosphatemia\/"},{"id":"1127","title":"Primary Familial Brain Calcification *","synonyms":["Fahr's disease, formerly","familial idiopathic basal ganglia calcification","primary bilateral brain calcification","striopallidodentate calcinosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/primary-familial-brain-calcification\/"},{"id":"1128","title":"Familial Isolated Hypoparathyroidism *","synonyms":["FIH"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/familial-isolated-hypoparathyroidism\/"},{"id":"1129","title":"Familial Lipoprotein Lipase Deficiency *","synonyms":["familial LPL deficiency","hyperlipoproteinemia type 1"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/familial-lipoprotein-lipase-deficiency\/"},{"id":"1130","title":"Fiebre mediterr\u00e1nea familiar *","synonyms":["Poliserositis parox\u00edstica familiar ","FMF","Poliserositis recurrente","Peritonitis parox\u00edstica benigna ","Peritonitis parox\u00edstica familiar ","Poliserositis recurrente benigna "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/fiebre-mediterranea-familiar\/"},{"id":"1131","title":"Familial Partial Lipodystrophy *","synonyms":["FPL","Kobberling-Dunnigan syndrome","lipoatrophic diabetes"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/familial-partial-lipodystrophy\/"},{"id":"1132","title":"Fanconi Anemia *","synonyms":["Fanconi pancytopenia","FA"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fanconi-anemia\/"},{"id":"142815","title":"Anemia de Fanconi *","synonyms":["Pancitopenia de Fanconi"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/anemia-de-fanconi\/"},{"id":"1133","title":"ASAH1-Related Disorders *","synonyms":["acid ceramidase deficiency","Farber disease","Farber lipogranulomatosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/farbers-disease\/"},{"id":"1134","title":"Fascioliasis *","synonyms":["Fasciolosis","Liver fluke disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fascioliasis\/"},{"id":"1135","title":"Felty Syndrome *","synonyms":["Splenomegaly with Rheumatoid Arthritis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/felty-syndrome\/"},{"id":"1136","title":"Femoral Facial Syndrome *","synonyms":["femoral dysgenesis, bilateral","femoral dysgenesis, bilateral-Robin anomaly","femoral hypoplasia-unusual facies syndrome","FFS","isolated femoral hypoplasia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/femoral-facial-syndrome\/"},{"id":"271269","title":"S\u00edndrome femoral facial *","synonyms":["Disgenesia femoral, bilateral ","Disgenesia femoral, anomal\u00eda de Robin bilateral ","S\u00edndrome de hipoplasia femoral-facies inusual ","S\u00edndrome hipoplasia femoral- facies inusual ","S\u00edndrome femoral-facial ","FHUFS ","SFF"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/femoral-facial-syndrome\/"},{"id":"1137","title":"Ferroportin Disease *","synonyms":["hemochromatosis type 4","SLC40A1-related hereditary hemochromatosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ferroportin-disease\/"},{"id":"1139","title":"Fetal Hydantoin Syndrome *","synonyms":["Dilantin embryopathy","Phenytoin embryopathy","Hydantoin embryopathy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fetal-hydantoin-syndrome\/"},{"id":"1140","title":"Fetal Retinoid Syndrome *","synonyms":["Accutane embryopathy","Accutane-exposed pregnancies","Accutane, fetal effects of","Isotretinoin embryopathy","Isotretinoin, fetal effects of","Isotretinoin teratogen syndrome","Retinoic acid embryopathy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fetal-retinoid-syndrome\/"},{"id":"191080","title":"S\u00edndrome de retinoide fetal *","synonyms":["Embriopat\u00eda por isotretinoina ","Embriopat\u00eda por retinoides ","Efectos fetales de Isotretinoina","S\u00edndrome terat\u00f3geno de isotretino\u00edna","Embriopat\u00eda por \u00e1cido retinoico"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/fetal-retinoid-syndrome\/"},{"id":"1141","title":"Fetal Valproate Syndrome *","synonyms":["valproic acid embryopathy","susceptibility to valproate embryopathy","fetal valproic acid syndrome","FVS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fetal-valproate-syndrome\/"},{"id":"132963","title":"S\u00edndrome fetal por valproato Fetal *","synonyms":["embriopat\u00eda por \u00e1cido valproico","s\u00edndrome de \u00e1cido valproico fetal"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/sindrome-fetal-por-valproato-fetal\/"},{"id":"1142","title":"FG Syndrome Type 1 *","synonyms":["FGS1","Opitz-Kaveggia syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fg-syndrome-type-1\/"},{"id":"253931","title":"S\u00edndrome FG tipo 1 *","synonyms":["FGS1","S\u00edndrome de Opitz-Kaveggia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/fg-syndrome-type-1\/"},{"id":"1143","title":"Fibrodysplasia Ossificans Progressiva *","synonyms":["FOP","myositis ossificans progressiva"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fibrodysplasia-ossificans-progressiva\/"},{"id":"271447","title":"Fibrodisplasia osificante progresiva *","synonyms":["FOP","Miositis osificante progresiva"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/fibrodysplasia-ossificans-progressiva\/"},{"id":"1144","title":"Fibromuscular Dysplasia *","synonyms":["FMD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fibromuscular-dysplasia\/"},{"id":"1146","title":"Fibrosing Mediastinitis *","synonyms":["mediastinal fibrosis","sclerosing mediastinitis","FM"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fibrosing-mediastinitis\/"},{"id":"1147","title":"Fibrous Dysplasia *","synonyms":["FD","fibrous dysplasia of bone","Jaffe-Lichtenstein disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fibrous-dysplasia\/"},{"id":"1148","title":"Filariasis *","synonyms":["Bancroftian Filariasis","Filarial Elephantiasis","Filariasis Malayi","Malayi Tropical Eosinphilia","Wuchereriasis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/filariasis\/"},{"id":"1149","title":"Filippi Syndrome *","synonyms":["Syndactyly Type I with Microcephaly and Mental Retardation"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/filippi-syndrome\/"},{"id":"1150","title":"Fitz Hugh Curtis Syndrome *","synonyms":["Gonococcal Perihepatitis","Perihepatitis Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fitz-hugh-curtis-syndrome\/"},{"id":"1151","title":"Floating Harbor Syndrome *","synonyms":["FHS","Pelletier-Leisti syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/floating-harbor-syndrome\/"},{"id":"1152","title":"Focal Dermal Hypoplasia *","synonyms":["combined mesoectodermal dysplasia","DHOF","ectodermal and mesodermal dysplasia, congenital","ectodermal and mesodermal dysplasia with osseous involvement","FDH","focal dermal dysplasia syndrome","focal dermato-phalangeal dysplasia","FODH","Goltz-Gorlin Syndrome","Goltz Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/focal-dermal-hypoplasia\/"},{"id":"1153","title":"Food Protein-Induced Enterocolitis Syndrome *","synonyms":["dietary protein enterocolitis","FPIES"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/food-protein-induced-enterocolitis-syndrome\/"},{"id":"254016","title":"S\u00edndrome de enterocolitis inducida por prote\u00ednas alimentarias *","synonyms":["Enterocolitis proteica diet\u00e9tica ","FPIES"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/food-protein-induced-enterocolitis-syndrome\/"},{"id":"1154","title":"Glycogen Storage Disease Type III *","synonyms":["amylo-1,6-glucosidase deficiency","Cori disease","AGL deficiency","glycogenosis type III","Forbes disease","limited dextrinosis","GDE deficiency","glycogen debrancher deficiency","GSD-III"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/forbes-disease\/"},{"id":"1155","title":"Formaldehyde Poisoning *","synonyms":["Formaldehyde Exposure","Formaldehyde Toxicity","Formalin Intoxication","Formalin Toxicity"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/formaldehyde-poisoning\/"},{"id":"1156","title":"Fountain Syndrome *","synonyms":["intellectual disability-deafness-skeletal abnormalities-coarse face with full lips"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fountain-syndrome\/"},{"id":"1157","title":"Fournier Gangrene *","synonyms":["Fournier disease","Fournier's disease","Fourniers disease","Fournier's gangrene","Fourniers gangrene","gangrene, Fournier","gangrene, Fournier's","necrotizing fasciitis of the perineum and genitalia","synergistic necrotizing fasciitis of the perineum and genitalia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fournier-gangrene\/"},{"id":"256948","title":"Gangrena de Fournier *","synonyms":["Enfermedad de Fournier ","Fascitis necrotizante del perineo y genitales","Fascitis necrosante sin\u00e9rgica del perineo y los genitales"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/fournier-gangrene\/"},{"id":"1158","title":"Fox Fordyce Disease *","synonyms":["apocrine duct occlusion","apocrine miliaria"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fox-fordyce-disease\/"},{"id":"1159","title":"Fragile X Syndrome *","synonyms":["fragile site, folic acid type, rare, Fra(X)(Q27.3)","marker X syndrome","Martin-Bell syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fragile-x-syndrome\/"},{"id":"1160","title":"Fraser Syndrome *","synonyms":["cryptophthalmos-syndactyly syndrome","cryptophthalmos syndrome","cryptophthalmos with other malformations","Fraser-Francois syndrome","Meyer-Schwickerath syndrome","Ulrich-Feichtiger syndrome","FS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fraser-syndrome\/"},{"id":"1161","title":"Freeman-Sheldon Syndrome *","synonyms":["Freeman-Burian syndrome","FBS","craniocarpotarsal dysplasia","craniocarpotarsal dysplasia","DA2A","distal arthrogryposis type 2A","FSS","whistling face syndrome","whistling face-windmill vane hand syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/freeman-sheldon-syndrome\/"},{"id":"273235","title":"S\u00edndrome de Freeman-Sheldon *","synonyms":["Artrogriposis distal tipo 2A ","Displasia cr\u00e1neo-carpo-tarsal ","Distrofia cr\u00e1neo-carpo-tarsal ","S\u00edndrome de Freeman-Burian ","S\u00edndrome de cara de silbador ","SFB \t","Displasia craneocarpotarsal ","DA2A ","SFS","S\u00edndrome de la cara silbante","S\u00edndrome de la cara silbante y mano en forma de aspa de molino"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/freeman-sheldon-syndrome\/"},{"id":"1162","title":"Frey Syndrome *","synonyms":["auriculotermporal syndrome","gustatory sweating"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/frey-syndrome\/"},{"id":"257750","title":"S\u00edndrome de Frey *","synonyms":["S\u00edndrome auriculotermporal ","Sudoraci\u00f3n gustativa ","S\u00edndrome de sudoraci\u00f3n gustativa"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/frey-syndrome\/"},{"id":"1163","title":"Froelich Syndrome *","synonyms":["adiposogenital dystrophy","Babinski-Froelich syndrome","dystrophia adiposogenitalis","Frolich's syndrome","hypothalamic infantilism-obesity","Launois-Cleret syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/froelichs-syndrome\/"},{"id":"184121","title":"Froelich Syndrome *","synonyms":["Distrofia adiposogenital Infantilismo hipotal\u00e1mico-obesidad ","S\u00edndrome de Babinski-Froelich","S\u00edndrome de Frolich ","Infantilismo hipotal\u00e1mico-obesidad ","S\u00edndrome de Launois-Cl\u00e9ret"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/froelichs-syndrome\/"},{"id":"1164","title":"Frontofacionasal Dysplasia *","synonyms":["facio-fronto-nasal dysplasia","FFND","frontofacionasal dysostosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/frontofacionasal-dysplasia\/"},{"id":"1165","title":"Frontonasal Dysplasia *","synonyms":["FND","median cleft face syndrome","Frontorhiny","Frontonasal malformation; FNM"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/frontonasal-dysplasia\/"},{"id":"1166","title":"Fructose Intolerance, Hereditary *","synonyms":["Fructose-1-Phosphate Aldolase Deficiency","Fructosemia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fructose-intolerance-hereditary\/"},{"id":"1167","title":"Fryns Syndrome *","synonyms":["FRNS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fryns-syndrome\/"},{"id":"1168","title":"Fucosidosis *","synonyms":["alpha-L-fucosidase deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fucosidosis\/"},{"id":"1169","title":"Fukuyama Type Congenital Muscular Dystrophy *","synonyms":["cerebromuscular dystrophy, Fukuyama type","congenital muscular dystrophy, Fukuyama type","FCMD","micropolygyria with muscular dystrophy","muscular dystrophy, congenital, Fukuyama type","muscular dystrophy, congenital with central nervous system involvement","muscular dystrophy, fukuyama type"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fukuyama-type-congenital-muscular-dystrophy\/"},{"id":"253836","title":"Distrofia muscular cong\u00e9nita tipo Fukuyama *","synonyms":["Distrofia cerebromuscular tipo Fukuyama ","Distrofia muscular cong\u00e9nita tipo Fukuyama ","FCMD","Micropoligiria con distrofia muscular ","Distrofia muscular, cong\u00e9nita con afectaci\u00f3n del sistema nervioso central ","Distrofia muscular tipo fukuyama"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/fukuyama-type-congenital-muscular-dystrophy\/"},{"id":"1170","title":"Galactosemia *","synonyms":["galactose-1-phosphate uridylyl transferase deficiency","transferase deficiency galactosemia","GALT deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/galactosemia\/"},{"id":"1171","title":"Galloway-Mowat Syndrome *","synonyms":["Galloway Syndrome","Hershberger Syndrome","Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type","Microcephaly-Hiatal Hernia-Nephrosis, Galloway Type","Microcephaly-Hiatal Hernia-Nephrotic Syndrome","Nephrocerebellar Syndrome","Nephrosis-Microcephaly Syndrome","Nephrosis-Neuronal Dysmigration Syndrome","Yoder Dystonia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/galloway-mowat-syndrome\/"},{"id":"1172","title":"Gastritis, Chronic, Erosive *","synonyms":["Idiopathic Chronic, Erosive Gastritis","Varioliform Gastritis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/gastritis-chronic-erosive\/"},{"id":"1174","title":"Gastrointestinal Stromal Tumors *","synonyms":["GIST"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/gastrointestinal-stromal-tumors\/"},{"id":"259904","title":"Tumores del estroma gastrointestinal *","synonyms":["GIST"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/gastrointestinal-stromal-tumors\/"},{"id":"1175","title":"Gastroparesis *","synonyms":["delayed gastric emptying","gastric atony","gastric dysmotility","gastric stasis","gastrointestinal autonomic neuropathy","gastroparesis diabeticorum","gastropathy","severe functional dyspepsia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/gastroparesis\/"},{"id":"1176","title":"Gastroschisis *","synonyms":["congenital fissure","laparoschisis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/gastroschisis\/"},{"id":"193896","title":"Gastrosquisis *","synonyms":["congenital fissure","laparoschisis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/gastroschisis\/"},{"id":"1177","title":"Gaucher Disease *","synonyms":["glucocerebrosidase deficiency","glucosylceramidase deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/gaucher-disease\/"},{"id":"271500","title":"Enfermedad de Gaucher *","synonyms":["Deficiencia de glucocerebrosidasa"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/gaucher-disease\/"},{"id":"1178","title":"General Myoclonus *","synonyms":["No synonyms found"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/general-myoclonus\/"},{"id":"1180","title":"Gerstmann Syndrome *","synonyms":["Developmental Gerstmann Syndrome","Gerstmann Tetrad","GS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/gerstmann-syndrome\/"},{"id":"1181","title":"Gianotti Crosti Syndrome *","synonyms":["Acrodermatitis, Infantile Lichenoid","Acrodermatitis, Papular Infantile","Crosti-Gianotti Syndrome","GCS","PAC","Papular Acrodermatitis of Childhood","PAS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/gianotti-crosti-syndrome\/"},{"id":"1182","title":"Giant Axonal Neuropathy *","synonyms":["GAN"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/giant-axonal-neuropathy\/"},{"id":"1183","title":"Giant Cell Myocarditis *","synonyms":["GCM","idiopathic giant cell myocarditis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/giant-cell-myocarditis\/"},{"id":"193894","title":"Miocarditis de c\u00e9lulas gigantes *","synonyms":["MCG","Miocarditis idiop\u00e1tica de c\u00e9lulas gigantes"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/giant-cell-myocarditis\/"},{"id":"1184","title":"Giant Congenital Melanocytic Nevus *","synonyms":["bathing trunk nevus","cape nevus","congenital pigmented nevus","garment nevus","giant brown birthmark","giant hairy nevus","giant hairy pigmented nevus","giant mole","giant nevus","hairy birthmark","leptomeningeal melanosis","multiple congenital melanocytic nevi","neurocutaneous melanocytosis","neurocutaneous melanosis","satellite nevi","swimming trunk nevus"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/giant-congenital-melanocytic-nevus\/"},{"id":"1185","title":"Gilbert Syndrome *","synonyms":["constitutional liver dysfunction","familial nonhemolytic jaundice","Gilbert-Lereboullet syndrome","Gilbert's disease","hyperbilirubinemia I","Meulengracht's disease","unconjugated benign bilirubinemia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/gilbert-syndrome\/"},{"id":"1186","title":"Glanzmann Thrombasthenia *","synonyms":["Glanzmann disease","Glanzmann-Naegeli syndrome","Glanzmann thrombasthenia","Glanzmann thrombasthenia, type A","glycoprotein complex IIb\/IIIa, deficiency of","GP IIb-IIIa complex, deficiency of","GPIIb\/IIIa receptor, deficiency of","GTA","platelet fibrinogen receptor deficiency","thrombasthenia","thrombasthenia of Glanzmann and Naegeli","integrin \u03b1IIb\u03b23 receptor, deficiency of"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/glanzmann-thrombasthenia\/"},{"id":"153170","title":"Trombastenia de Glanzmann *","synonyms":["Enfermedad de Glanzmann ","S\u00edndrome de Glanzmann-Naegeli ","Trombastenia de Glanzmann, tipo A ","Complejo de la deficiencia glicoproteica IIb\/IIIa ","TAG","Deficiencia del receptor de fibrin\u00f3geno plaquetario ","Trombastenia de Glanzmann y Naegeli ","Deficiencia del receptor de integrina \u03b1IIb\u03b23"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/glanzmann-thrombasthenia\/"},{"id":"1187","title":"Glioblastoma *","synonyms":["glioblastoma multiforme","astrocytoma, grade IV","GBM"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/glioblastoma-multiforme\/"},{"id":"271175","title":"Glioblastoma *","synonyms":["Glioblastoma multiforme","Astrocitoma grado IV","GBM"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/glioblastoma-multiforme\/"},{"id":"1188","title":"Glucose Transporter Type 1 Deficiency Syndrome *","synonyms":["De Vivo disease","glucose transporter protein syndrome","Glut1 deficiency syndrome","Glut1DS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/glucose-transporter-type-1-deficiency-syndrome\/"},{"id":"139112","title":"S\u00edndrome de deficiencia del transportador de glucosa tipo 1 *","synonyms":["Enfermedad de Vivo ","S\u00edndrome de la prote\u00edna transportadora de glucosa ","S\u00edndrome de deficiencia de Glut1 ","Glut1DS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/sindrome-de-deficiencia-del-transportador-de-glucosa-tipo-1\/"},{"id":"1189","title":"Glucose-6-Phosphate Dehydrogenase Deficiency *","synonyms":["G6PD deficiency","G6PD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/glucose-6-phosphate-dehydrogenase-deficiency\/"},{"id":"1190","title":"Glucose-Galactose Malabsorption *","synonyms":["monosaccharide malabsorption","carbohydrate intolerance of glucose galactose","complex carbohydrate intolerance","GGM"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/glucose-galactose-malabsorption\/"},{"id":"1191","title":"Glutaric Aciduria Type I *","synonyms":["GA1","glutaric acidemia type I","glutaric aciduria type I","glutaryl-CoA dehydrogenase deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/glutaricaciduria-i\/"},{"id":"1192","title":"Glutaric Aciduria Type II *","synonyms":["electron transfer flavoprotein, deficiency of","electron transfer flavoprotein: ubiquinone oxidoreductase, deficiency of","GAII","Glutaric Acidemia II","Glutaric Aciduria II","GA2","Ethylmalonic adipic aciduria (EMA)","MADD","multiple acyl-Co-A dehydrogenase deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/glutaricaciduria-ii\/"},{"id":"1193","title":"Glycogen Storage Disease Type I *","synonyms":["glucose-6-phosphatase deficiency","glucose-6-phosphate transport defect","glycogenosis type I","GSDI","Von Gierke disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/glycogen-storage-disease-type-i\/"},{"id":"1194","title":"Glycogen Storage Disease Type IX *","synonyms":["GSD-IX","PhK deficiency","phosphorylase kinase deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/glycogen-storage-disease-type-ix\/"},{"id":"1195","title":"Glycogen Storage Disease Type V *","synonyms":["Glycogenosis Type V","Glycogen Storage Disease type V (GSD-V)","GSD-V","McArdle Disease","Myophosphorylase Deficiency","Muscle Glycogen Phosphorylase Deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/glycogen-storage-disease-type-v\/"},{"id":"1196","title":"Glycogen Storage Disease Type 7 *","synonyms":["GSD7","muscle phosphofructokinase deficiency","PFKM Deficiency","Tarui disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/glycogen-storage-disease-type-vii\/"},{"id":"1198","title":"Goodpasture Syndrome *","synonyms":["Pneumorenal Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/goodpasture-syndrome\/"},{"id":"1199","title":"Gordon Syndrome *","synonyms":["arthrogryposis multiplex congenita, distal, type IIA","camptodactyly-cleft palate-clubfoot","distal arthrogryposis, type IIA"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/gordon-syndrome\/"},{"id":"1200","title":"Gorham-Stout Disease *","synonyms":["disappearing bone disease","essential osteolysis","Gorham\u2019s syndrome","Gorham-Stout syndrome","idiopathic massive osteolysis","massive Gorham osteolysis","massive osteolysis","Morbus Gorham-Stout disease","phantom bone disease","progressive massive osteolysis","vanishing one disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/gorham-stout-disease\/"},{"id":"1201","title":"Gorlin-Chaudhry-Moss Syndrome *","synonyms":["Craniofacial Dysostosis-PD Arteriosus-Hypertrichosis-Hypoplasia of Labia","Craniosynostosis-Hypertrichosis-Facial and Other Anomalies","GCM Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/gorlin-chaudhry-moss-syndrome\/"},{"id":"1202","title":"Gottron Syndrome *","synonyms":["acrogeria, Gottron type","acrometageria","familial acrogeria","familial acromicria"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/gottron-syndrome\/"},{"id":"271193","title":"S\u00edndrome de Gottron *","synonyms":["Acrogeria, tipo Gottron ","Acrometageria","Acrogeria tipo Gottron ","Acromicria familiar"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/gottron-syndrome\/"},{"id":"1203","title":"Graft versus Host Disease *","synonyms":["GVHD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/graft-versus-host-disease\/"},{"id":"1204","title":"Granuloma Annulare *","synonyms":["Lichen Annularis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/granuloma-annulare\/"},{"id":"1205","title":"Graves' Disease *","synonyms":["Basedow disease","exophthalmic goiter","Graves' hyperthyroidism","Parry disease","toxic diffuse goiter"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/graves-disease\/"},{"id":"1206","title":"Greig Cephalopolysyndactyly Syndrome *","synonyms":["GCPS","Greig syndrome","cephalopolysyndactyly syndrome","polysyndactyly-dysmorphic craniofacies, Greig type","frontodigital syndrome (obsolete)","Hootnick-Holmes syndrome (obsolete)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/greig-cephalopolysyndactyly-syndrome\/"},{"id":"254269","title":"S\u00edndrome de cefalopolisindactilia de Greig *","synonyms":["GCPS ","S\u00edndrome de Greig ","Craneofacies polisindactilia-dism\u00f3rfica, tipo Greig ","S\u00edndrome de cefalopolisindactilia ","S\u00edndrome frontodigital (obsoleto)"," S\u00edndrome de Hootnick-Holmes (obsoleto)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/greig-cephalopolysyndactyly-syndrome\/"},{"id":"1208","title":"Growth Hormone Deficiency *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/growth-hormone-deficiency\/"},{"id":"1209","title":"Growth Hormone Insensitivity *","synonyms":["GHI","GH insensitivity","growth hormone resistance","growth hormone unresponsiveness","Laron syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/growth-hormone-insensitivity\/"},{"id":"1210","title":"Guillain-Barr\u00e9 Syndrome *","synonyms":["acute polyneuritis","acute inflammatory neuropathy","acute inflammatory polyneuropathy","GBS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/guillain-barre-syndrome\/"},{"id":"142324","title":"S\u00edndrome de Guillain Barre *","synonyms":["Polineuritis aguda","Neuropat\u00eda inflamatoria aguda","Polineuropat\u00eda inflamatoria aguda"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/sindrome-de-guillain-barre\/"},{"id":"1211","title":"Hailey-Hailey Disease *","synonyms":["benign chronic familial pemphigus","benign chronic pemphigus","familial benign pemphigus","HHD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hailey-hailey-disease\/"},{"id":"1212","title":"Haim-Munk Syndrome *","synonyms":["Cochin Jewish Disorder","HMS","Kera. Palmoplant. Con., Pes Planus, Ony., Periodon., Arach., Acroosteolysis","Keratosis Palmoplantaris with Periodontopathia and Onychogryposis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/haim-munk-syndrome\/"},{"id":"1213","title":"Hairy Cell Leukemia *","synonyms":["HCL","Leukemic Reticuloendotheliosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hairy-cell-leukemia\/"},{"id":"1214","title":"Hajdu Cheney Syndrome *","synonyms":["acro-dento-osteo-dysplasia","acroosteolysis dominant type","acroosteolysis with osteoporosis and changes in skull and mandible","arthrodentoosteodysplasia","Cheney syndrome","HCS","serpentine fibula-polycystic kidney syndrome (SFPKS)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hajdu-cheney-syndrome\/"},{"id":"258471","title":"S\u00edndrome de Hajdu Cheney *","synonyms":["Acrooste\u00f3lisis con osteoporosis y cambios en cr\u00e1neo y mand\u00edbula ","Acrooste\u00f3lisis tipo dominante ","Artrodentoosteodisplasia ","S\u00edndrome de Cheney ","S\u00edndrome del peron\u00e9 serpentino-ri\u00f1\u00f3n poliqu\u00edstico (SFPKS)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/hajdu-cheney-syndrome\/"},{"id":"1215","title":"Hanhart Syndrome *","synonyms":["aglossia-adactylia","hypoglossia-hypodactylia syndrome","peromelia with micrognathia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hanhart-syndrome\/"},{"id":"1216","title":"Hantavirus Pulmonary Syndrome *","synonyms":["HCPS (hantavirus cardiopulmonary syndrome)","HPS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hantavirus-pulmonary-syndrome\/"},{"id":"1217","title":"Hartnup Disease *","synonyms":["Hartnup disorder","Hartnup syndrome","pellagra-cerebellar ataxia-renal aminoaciduria syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hartnup-disease\/"},{"id":"1218","title":"Congenital Heart Block *","synonyms":["atrioventricular (AV) block","CHB"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/heart-block-congenital\/"},{"id":"1219","title":"Heavy Metal Poisoning *","synonyms":["heavy metal toxicity"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/heavy-metal-poisoning\/"},{"id":"273966","title":"Envenenamiento por Metales Pesados *","synonyms":["Toxicidad por metales pesados"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/heavy-metal-poisoning\/"},{"id":"1220","title":"Hemimegalencephaly *","synonyms":["macrencephaly","unilateral megalencephaly"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hemimegalencephaly\/"},{"id":"1221","title":"Hemophilia A *","synonyms":["classical hemophilia","factor VIII deficiency","haemophilia A"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hemophilia-a\/"},{"id":"143323","title":"Hemofilia A *","synonyms":["hemofilia cl\u00e1sica","deficiencia de factor VIII"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/hemofilia-a\/"},{"id":"1222","title":"Hemophilia B *","synonyms":["Christmas disease","factor IX deficiency","royal disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hemophilia-b\/"},{"id":"176321","title":"Hemofilia B *","synonyms":["Enfermedad de Christmas ","Deficiencia del factor IX ","Enfermedad real"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/hemophilia-b\/"},{"id":"1223","title":"Henoch-Sch\u00f6nlein Purpura *","synonyms":["Allergic Purpura","Allergic Vasculitis","Anaphylactoid Purpura","Hemorrhagic Capillary Toxicosis","HSP","Leukocytoclastic Vasculitis","Nonthrombocytopenic Idiopathic Purpura","Peliosis Rheumatica","Rheumatic Purpura","Schonlein-Henoch Purpura","vascular purpura"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/henoch-schonlein-purpura\/"},{"id":"1224","title":"Hepatic Encephalopathy *","synonyms":["HE","portal-systemic encephalopathy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hepatic-encephalopathy\/"},{"id":"1225","title":"Congenital Hepatic Fibrosis *","synonyms":["CHF"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hepatic-fibrosis-congenital\/"},{"id":"1226","title":"Hepatoerythropoietic Porphyria *","synonyms":["autosomal recessive PCT","HEP"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hepatoerythropoietic-porphyria\/"},{"id":"1227","title":"Hepatorenal Syndrome *","synonyms":["hepato-renal syndrome","HRS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hepatorenal-syndrome\/"},{"id":"1228","title":"Hereditary Coproporphyria *","synonyms":["HCP"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hereditary-coproporphyria\/"},{"id":"1229","title":"Hereditary Hemorrhagic Telangiectasia *","synonyms":["HHT","Osler-Weber Rendu syndrome","Rendu-Osler-Weber syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hereditary-hemorrhagic-telangiectasia\/"},{"id":"1230","title":"Hereditary Hyperphosphatasia *","synonyms":["chronic congenital idiopathic hyperphosphatasemia","familial idiopathic hyperphosphatasia","familial osteoectasia","hyperostosis corticalis deformans juvenilis","juvenile Paget's disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hereditary-hyperphosphatasia\/"},{"id":"1231","title":"Hereditary Leiomyomatosis and Renal Cell Carcinoma *","synonyms":["HLRCC","Reed syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hereditary-leiomyomatosis-and-renal-cell-carcinoma\/"},{"id":"260395","title":"Leiomiomatosis hereditaria y carcinoma de c\u00e9lulas renales *","synonyms":["HLRCC","Reed syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/hereditary-leiomyomatosis-and-renal-cell-carcinoma\/"},{"id":"1232","title":"Primary Lymphedema *","synonyms":["hereditary lymphedema"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hereditary-lymphedema\/"},{"id":"1233","title":"Hereditary Multiple Osteochondromas *","synonyms":["diaphyseal aclasis","EXT","external chondromatosis syndrome","hereditary multiple exostoses","multiple cartilaginous exostoses","multiple exostoses","multiple exostoses syndrome","multiple osteochondromas","multiple osteochondromatosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hereditary-multiple-osteochondromas\/"},{"id":"1234","title":"Hereditary Neuralgic Amyotrophy *","synonyms":["hereditary brachial plexus neuropathy","HNA"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hereditary-neuralgic-amyotrophy\/"},{"id":"1235","title":"Hereditary Sensory and Autonomic Neuropathy Type II *","synonyms":["acroosteolysis, Giaccai Type","acroosteolysis, Neurogenic","Hereditary Sensory Neuropathy Type II","HSAN2","HSAN II","Morvan disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hereditary-sensory-and-autonomic-neuropathy-type-ii\/"},{"id":"1236","title":"Hereditary Sensory and Autonomic Neuropathy Type IV *","synonyms":["congenital insensitivity to pain with anhidrosis (CIPA)","familial dysautonomia, type II","hereditary sensory neuropathy type IV","HSAN 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craniosynostosis","JWS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/jackson-weiss-syndrome\/"},{"id":"258175","title":"S\u00edndrome de Jackson-Weiss *","synonyms":["Craneosinostosis, hipoplasia mediofacial y anomal\u00edas del pie ","Craneosinostosis de Jackson-Weiss"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/jackson-weiss-syndrome\/"},{"id":"1307","title":"Jansen Type Metaphyseal Chondrodysplasia *","synonyms":["Jansen disease","Jansen metaphyseal dysostosis","Murk Jansen type metaphyseal chondrodysplasia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/jansen-type-metaphyseal-chondrodysplasia\/"},{"id":"1308","title":"Spondylocostal Dysplasia *","synonyms":["costovertebral dysplasia","Jarcho-Levin syndrome (obsolete)","spondylocostal 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*","synonyms":["JBS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/johanson-blizzard-syndrome\/"},{"id":"1312","title":"Joubert Syndrome *","synonyms":["cerebellooculorenal syndrome 1; CORS1","cerebelloparenchchymal disorder IV familial","Joubert-Bolthauser syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/joubert-syndrome\/"},{"id":"1313","title":"Turner-Type X-Linked Syndromic Intellectual Developmental Disorder *","synonyms":["Brooks Wisniewski Brown syndrome","intellectual disability, x-linked syndromic, Turner type","Juberg-Marsidi syndrome","intellectual disability and macrocephaly syndrome","intellectual disability, X-linked, syndromic, Brooks-Wisniewski-Brown type","intellectual disability, X-linked, with growth retardation, deafness, and microgenitalism","MRXST","syndromic X-linked intellectual disability Turner type","X-linked intellectual disability, Brooks type","X-linked intellectual disability, Turner type","HUWE1-related neurodevelopmental disorder","HUWE1-related intellectual disability","HUWE1-related disorder "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/juberg-marsidi-syndrome\/"},{"id":"258432","title":"Trastorno del desarrollo intelectual sindr\u00f3mico ligado al cromosoma X tipo Turner *","synonyms":["Discapacidad intelectual relacionada con HUWE1 ","Discapacidad intelectual sindr\u00f3mica ligada al cromosoma X tipo Turner ","Discapacidad intelectual ligada al cromosoma X, tipo Turner ","S\u00edndrome de Brooks Wisniewski-Brown ","S\u00edndrome de Juberg-Marsidi ","Trastorno del neurodesarrollo relacionado con HUWE1 ","S\u00edndrome de discapacidad intelectual y macrocefalia ","Discapacidad intelectual, ligada al cromosoma X, sindr\u00f3mica, tipo Brooks-Wisniewski-Brown ","Discapacidad intelectual ligada al cromosoma X, tipo Brooks ","Discapacidad intelectual, ligada al cromosoma X, con retraso del crecimiento, sordera y microgenitalismo "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/juberg-marsidi-syndrome\/"},{"id":"1314","title":"Jumping Frenchmen of Maine *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/jumping-frenchmen-of-maine\/"},{"id":"1315","title":"Juvenile Hemochromatosis *","synonyms":["hereditary hemochromatosis type 2","juvenile hereditary hemochromatosis","type 2 hereditary hemochromatosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/juvenile-hemochromatosis\/"},{"id":"1316","title":"Juvenile Myelomonocytic Leukemia *","synonyms":["chronic myelomonocytic leukemia of infancy","JMML","juvenile chronic myelogenous leukemia (old literature)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/juvenile-myelomonocytic-leukemia\/"},{"id":"1317","title":"Juvenile Pilocytic Astrocytoma *","synonyms":["Astrocytoma Grade I","JPA"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/juvenile-pilocytic-astrocytoma\/"},{"id":"1318","title":"Kabuki Syndrome *","synonyms":["Kabuki makeup syndrome","KMS","Niikawa-Kuroki syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/kabuki-syndrome\/"},{"id":"152379","title":"S\u00edndrome de Kabuki *","synonyms":["S\u00edndrome de maquillaje Kabuki ","SK","S\u00edndrome de Niikawa-Kuroki"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/kabuki-syndrome\/"},{"id":"1319","title":"Kallmann Syndrome *","synonyms":["idiopathic hypogonadotropic hypogonadism with anosmia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/kallmann-syndrome\/"},{"id":"1320","title":"Kasabach-Merritt Phenomenon *","synonyms":["KMP","Vascular tumor with thrombocytopenia and\/or hypofibrinogenemia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/kasabach-merritt-phenomenon\/"},{"id":"256903","title":"Fen\u00f3meno de Kasabach-Merritt *","synonyms":["KMP ","Tumor vascular con trombocitopenia y\/o hipofibrinogenemia","S\u00edndrome de hemangioma-trombocitopenia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/kasabach-merritt-phenomenon\/"},{"id":"1321","title":"Kawasaki Disease *","synonyms":["Kawasaki Syndrome","MLNS","Mucocutaneous Lymph Node Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/kawasaki-disease\/"},{"id":"1322","title":"KBG Syndrome *","synonyms":["short stature, facial\/skeletal anomalies-retardation-macrodontia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/kbg-syndrome\/"},{"id":"1323","title":"Kearns Sayre Syndrome *","synonyms":["chronic progressive external ophthalmoplegia and myopathy","chronic progressive external ophthalmoplegia with ragged red fibers","CPEO with myopathy","CPEO with ragged red fibers","KSS","mitochondrial cytopathy","occulocraniosomatic syndrome (obsolete)","ophthalmoplegia, pigmentary degeneration of the retina and cardiomyopathy","ophthalmoplegia plus syndrome","single large-scale mtDNA deletion syndrome (SLSMDS)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/kearns-sayre-syndrome\/"},{"id":"1324","title":"Kennedy Disease *","synonyms":["KD","Kennedy's syndrome","SBMA","spinal and bulbar muscular atrophy","spinal bulbar muscular atrophy","X-linked spinal and bulbar muscular atrophy","X-linked spinal bulbar muscular atrophy","spinobulbar muscular atrophy","X-linked spinobulbar muscular atrophy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/kennedy-disease\/"},{"id":"254014","title":"Enfermedad de Kennedy *","synonyms":["S\u00edndrome de Kennedy ","SBMA","Atrofia muscular espinal y bulbar ","Atrofia muscular bulbar espinal","Atrofia muscular espinal y bulbar ligada al cromosoma X ","Atrofia muscular bulbar espinal ligada al cromosoma X ","Atrofia muscular espinobulbar ","Atrofia muscular espinobulbar ligada al cromosoma X"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/kennedy-disease\/"},{"id":"1325","title":"Kenny-Caffey Syndrome *","synonyms":["dwarfism, cortical thickening of tubular bones & transient hypocalcemia","KCS2","Kenny-Caffey syndrome, dominant type"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/kenny-caffey-syndrome\/"},{"id":"1326","title":"Keratitis Ichthyosis Deafness Syndrome *","synonyms":["Ichthyosiform Erythroderma, Corneal Involvement, and Deafness Syndrome","KID Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/keratitis-ichthyosis-deafness-syndrome\/"},{"id":"1327","title":"Keratoconus *","synonyms":["conical cornea","KC","KCN"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/keratoconus\/"},{"id":"1328","title":"Keratomalacia *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/keratomalacia\/"},{"id":"1329","title":"Keratosis Follicularis *","synonyms":["Darier disease","Darier-White disease","dyskeratosis follicularis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/keratosis-follicularis\/"},{"id":"144554","title":"Queratosis folicular *","synonyms":["Enfermedad de Darier","Enfermedad de Darier-White"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/queratosis-folicular\/"},{"id":"1331","title":"Kernicterus *","synonyms":["Bilirubin Encephalopathy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/kernicterus\/"},{"id":"1332","title":"Kienb\u00f6ck Disease *","synonyms":["Lunatomalacia","Osteochondrosis of the Lunate Bone"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/kienbock-disease\/"},{"id":"1333","title":"Kikuchi-Fujimoto Disease *","synonyms":["histiocytic necrotizing lymphadenitis (HNL)","KFD","Kikuchi Disease","Kikuchi\u2019s histiocytic necrotizing lymphadenitis (KHNL)","necrotizing lymphadenitis (NL)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/kikuchis-disease\/"},{"id":"271388","title":"Enfermedad de Kikuchi-Fujimoto *","synonyms":["Linfadenitis necrotizante histioc\u00edtica (HNL) ","KFD","Enfermedad de Kikuchi ","Linfadenitis necrotizante histioc\u00edtica de Kikuchi (KHNL) ","Linfadenitis necrotizante (NL)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/kikuchis-disease\/"},{"id":"1334","title":"Kleine-Levin Syndrome *","synonyms":["Familial Hibernation Syndrome","Kleine-Levin Hibernation Syndrome","Periodic Somnolence and Morbid Hunger"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/kleine-levin-syndrome\/"},{"id":"1335","title":"47, XXY (Klinefelter Syndrome) *","synonyms":["KS","47,XXY male"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/47-xxy-klinefelter-syndrome\/"},{"id":"258362","title":"S\u00edndrome de Klinefelter (47,XXY) y otras variantes *","synonyms":["SK","47,XXY"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/47-xxy-klinefelter-syndrome\/"},{"id":"1336","title":"Klippel-Feil Syndrome *","synonyms":["fusion of cervical vertebral","congenital synostosis of the cervical spine","Klippel-Feil anomaly","KFS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/klippel-feil-syndrome\/"},{"id":"153687","title":"S\u00edndrome de Klippel-Feil *","synonyms":["Fusi\u00f3n de v\u00e9rtebras cervicales","Sinostosis cong\u00e9nita de la columna cervical ","Anomal\u00eda de Klippel-Feil ","SKF"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/klippel-feil-syndrome\/"},{"id":"1337","title":"Klippel-Trenaunay Syndrome *","synonyms":["KTS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/klippel-trenaunay-syndrome\/"},{"id":"1338","title":"Kluver-Bucy Syndrome *","synonyms":["bilateral temporal lobe disorder","post-encephalitic Kl\u00fcver-Bucy syndrome","post-traumatic Kluver-Bucy syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/kluver-bucy-syndrome\/"},{"id":"271340","title":"S\u00edndrome de Kl\u00fcver-Bucy *","synonyms":["S\u00edndrome de Kl\u00fcver-Bucy ","Trastorno bilateral del l\u00f3bulo temporal ","S\u00edndrome de Kl\u00fcver-Bucy postencefal\u00edtico ","S\u00edndrome de Kluver-Bucy postraum\u00e1tico"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/kluver-bucy-syndrome\/"},{"id":"1339","title":"Kniest Dysplasia *","synonyms":["Kniest chondrodystrophy","Kniest Syndrome","Metatropic dwarfism, type II","Metatropic dysplasia, type II","Swiss Cheese Cartilage Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/kniest-dysplasia\/"},{"id":"1340","title":"Kohler Disease *","synonyms":["Kohler's Disease of the tarsal navicular","Kohler's osteochondrosis of the tarsal navicular","navicular osteochondrosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/kohler-disease\/"},{"id":"1341","title":"Adult Neuronal Ceroid Lipofuscinosis *","synonyms":["adult NCL","ANCL","Kufs syndrome","Kufs disease","Parry disease","neuronal ceroid lipofuscinosis, adult type"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/kufs-disease\/"},{"id":"1343","title":"L1 Syndrome *","synonyms":["HSAS, aqueductal stenosis, X-linked","L1 disease","L1 spectrum","MASA syndrome","SPG1 (X-linked complicated hereditary spastic paraplegia type 1)","X-linked corpus callosum agenesis","X-linked hydrocephalus with stenosis of the aqueduct of sylvius"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/l1-syndrome\/"},{"id":"1344","title":"Laband Syndrome *","synonyms":["Gingival Fibromatosis, Abnormal Fingers, Nails, Nose, Ear, Splenomegaly","Zimmermann-Laband Syndrome","ZLS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/laband-syndrome\/"},{"id":"1345","title":"LADD syndrome *","synonyms":["lacrimo-auriculo-dento-digital syndrome","Levy-Hollister syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ladd-syndrome\/"},{"id":"1346","title":"Lambert-Eaton Myasthenic Syndrome *","synonyms":["Eaton-Lambert syndrome","Lambert-Eaton syndrome","LEMS","myasthenic syndrome of Lambert-Eaton"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/lambert-eaton-myasthenic-syndrome\/"},{"id":"1347","title":"Landau Kleffner Syndrome *","synonyms":["acquired aphasia with convulsive disorder","acquired epileptiform aphasia","LKS","developmental\/epileptic encephalopathy with spike wave activation on sleep (DEE-SWAS)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/landau-kleffner-syndrome\/"},{"id":"1348","title":"Langerhans Cell Histiocytosis *","synonyms":["LCH","histiocytosis X (formerly)","eosinophilic granuloma (formerly)","Letterer-Siwe disease (formerly)","Hand-Sch\u00fcller-Christian syndrome (formerly)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/langerhans-cell-histiocytosis\/"},{"id":"1349","title":"Larsen Syndrome *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/larsen-syndrome\/"},{"id":"1350","title":"Laryngeal Dystonia *","synonyms":["LD","SD","spasmodic dysphonia","spastic dysphonia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/laryngeal-dystonia\/"},{"id":"1351","title":"Leber Congenital Amaurosis *","synonyms":["LCA"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/leber-congenital-amaurosis\/"},{"id":"271772","title":"Amaurosis cong\u00e9nita de Leber *","synonyms":["LCA"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/leber-congenital-amaurosis\/"},{"id":"1352","title":"Leber Hereditary Optic Neuropathy *","synonyms":["Leber's hereditary optic neuropathy","Leber's optic neuropathy","LHON"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/leber-hereditary-optic-neuropathy\/"},{"id":"1353","title":"Legg Calv\u00e9 Perthes Disease *","synonyms":["LCPD","Perthes disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/legg-calve-perthes-disease\/"},{"id":"1354","title":"Legionnaires' Disease *","synonyms":["Legionellosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/legionnaires-disease\/"},{"id":"254921","title":"Enfermedad de los Legionarios *","synonyms":["Legionelosis","Enfermedad del legionario"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/legionnaires-disease\/"},{"id":"1355","title":"Leigh Syndrome *","synonyms":["classical Leigh syndrome","Leigh necrotizing encephalopathy","Leigh's disease","necrotizing encephalomyelopathy of Leigh's","SNE","subacute necrotizing encephalopathy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/leigh-syndrome\/"},{"id":"1356","title":"Leiomyosarcoma *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/leiomyosarcoma\/"},{"id":"1357","title":"Leiomyosarcoma, Inferior Vena Cava *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/leiomyosarcoma-inferior-vena-cava\/"},{"id":"1358","title":"Lennox-Gastaut Syndrome *","synonyms":["LGS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/lennox-gastaut-syndrome\/"},{"id":"270855","title":"S\u00edndrome de Lennox-Gastaut *","synonyms":["LGS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/lennox-gastaut-syndrome\/"},{"id":"1359","title":"Lenz Microphthalmia Syndrome *","synonyms":["Lenz dysplasia","Lenz syndrome","microphthalmia or anophthalmos with associated anomalies (obsolete)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/lenz-microphthalmia-syndrome\/"},{"id":"1360","title":"Noonan Syndrome with Multiple Lentigines *","synonyms":["NSML","multiple lentigines syndrome","LEOPARD syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/leopard-syndrome\/"},{"id":"1361","title":"Leprechaunism *","synonyms":["Donohue syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/leprechaunism\/"},{"id":"1362","title":"Leprosy *","synonyms":["Hansen's Disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/leprosy\/"},{"id":"1363","title":"Leptospirosis *","synonyms":["Canefield Fever","Canicola Fever","Field Fever","Mud Fever","Seven Day Fever, Leptospirosis","Spirochetosis","Swineherd Disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/leptospirosis\/"},{"id":"1364","title":"Leri Pleonosteosis *","synonyms":["Pleonosteosis, Leri Type"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/leri-pleonosteosis\/"},{"id":"1365","title":"Lesch Nyhan Syndrome *","synonyms":["HGPRT deficiency","HPRT deficiency","hypoxanthine-guanine phosphoribosyl transferase deficiency","Lesch-Nyhan disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/lesch-nyhan-syndrome\/"},{"id":"1366","title":"Leukocyte Adhesion Deficiency Syndromes *","synonyms":["LAD syndromes"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/leukocyte-adhesion-deficiency-syndromes\/"},{"id":"1367","title":"Leukodystrophy *","synonyms":["hereditary white matter disorders","inherited leukoencephalopathies"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/leukodystrophy\/"},{"id":"174077","title":"Leucodistrofia *","synonyms":["Trastornos hereditarios de la sustancia blanca ","Leucoencefalopat\u00edas hereditarias"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/leukodystrophy\/"},{"id":"1368","title":"Krabbe Disease *","synonyms":["galactocerebrosidase deficiency","galactocerebroside beta-galactosidase deficiency ","galactosylceramidase deficiency","galactosylceramide lipidosis","globoid cell leukoencephalopathy (GLD)"," leukodystrophy, globoid cell","sphingolipidosis, Krabbe's type","leukodystrophy, Krabbe\u2019s"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/leukodystrophy-krabbes\/"},{"id":"260026","title":"Enfermedad de Krabbe *","synonyms":["Deficiencia de galactocerebrosidasa ","Deficiencia de galactocerebr\u00f3sido beta-galactosidasa ","Deficiencia de galactosilceramidasa Lipidosis por galactosilceramida"," Leucoencefalopat\u00eda de c\u00e9lulas globoides (GLD) ","Leucodistrofia de c\u00e9lulas globoides ","Esfingolipidosis tipo Krabbe ","Leucodistrofia, enfermedad de Krabbe ","Deficiencia de GALC ","Leucodistrofia de c\u00e9lulas caliciformes"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/leukodystrophy-krabbes\/"},{"id":"1369","title":"Metachromatic Leukodystrophy *","synonyms":["MLD","diffuse brain sclerosis","metachromatic leukoencephalopathy","ARSA deficiency","arylsulfatase A deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/metachromatic-leukodystrophy\/"},{"id":"260209","title":"Leucodistrofia metacrom\u00e1tica *","synonyms":["MLD","Esclerosis cerebral difusa ","Leucoencefalopat\u00eda metacrom\u00e1tica ","Deficiencia de ARSA ","Deficiencia de arilsulfatasa A"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/metachromatic-leukodystrophy\/"},{"id":"1370","title":"Levy-Yeboa Syndrome *","synonyms":["secretory diarrhea, myopathy and deafness"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/levy-yeboa-syndrome\/"},{"id":"1371","title":"Lichen Planus *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/lichen-planus\/"},{"id":"1372","title":"Lichen Sclerosus *","synonyms":["lichen sclerosus et atrophicus","balanitis xerotica obliterans"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/lichen-sclerosus\/"},{"id":"1373","title":"Limb-Girdle Muscular Dystrophies *","synonyms":["LGMD","pelvofemoral muscular dystrophy","proximal muscular dystrophy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/limb-girdle-muscular-dystrophies\/"},{"id":"1374","title":"Lissencephaly *","synonyms":["agyria","lissencephaly, type I","classic lissencephaly (LIS1)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/lissencephaly\/"},{"id":"1375","title":"Listeriosis *","synonyms":["listeria infection"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/listeriosis\/"},{"id":"176324","title":"Listeriosis *","synonyms":["Infecci\u00f3n por listeria"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/listeriosis\/"},{"id":"1376","title":"Locked In Syndrome *","synonyms":["cerebromedullospinal disconnection","de-efferented state","pseudocoma"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/locked-in-syndrome\/"},{"id":"1377","title":"Senior-L\u00f8ken Syndrome *","synonyms":["juvenile nephronophthisis with leber amaurosis","renal dysplasia and retinal aplasia","renal dysplasia-blindness, hereditary","renal-retinal dysplasia","renal-retinal syndrome","Loken-Senior syndrome","SLS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/senior-loken-syndrome\/"},{"id":"200929","title":"S\u00edndrome de Senior-L\u00f8ken *","synonyms":["Nefronoptisis juvenil con amaurosis de Leber SLS","Displasia renal y aplasia de retina","Displasia renal-ceguera hereditaria","Displasia renal-retiniana ","S\u00edndrome renal-retiniano ","S\u00edndrome de Loken-Senior","SLS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/senior-loken-syndrome\/"},{"id":"1378","title":"Low Gamma-GT Familial Intrahepatic Cholestasis *","synonyms":["benign recurrent intrahepatic cholestasis types 1 and 2","BRIC1","BRIC2","PFIC1","PFIC2","PFIC 4","PFIC 5","PFIC 6","progressive familial intrahepatic cholestasis types 1 and 2"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/low-gamma-gt-familial-intrahepatic-cholestasis\/"},{"id":"1379","title":"Lowe syndrome *","synonyms":["OCRL","oculocerebrorenal syndrome","oculocerebrorenal syndrome of Lowe"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/lowe-syndrome\/"},{"id":"1381","title":"Lymphangioleiomyomatosis *","synonyms":["LAM","lymphangioleimyomatosis","lymphangioleiomatosis","lymphangiomyomatosis","pulmonary lymphangiomyomatosis","sporadic lymphangioleiomyomatosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/lymphangioleiomyomatosis\/"},{"id":"1382","title":"Lymphatic Malformations *","synonyms":["cavernous lymphangioma","cystic hygroma","cystic lymphangioma","lymphangioma","lymphangioma circumscriptum","lymphangiomatosis","macrocystic lymphatic malformation","microcystic lymphatic malformation"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/lymphatic-malformations\/"},{"id":"1383","title":"Lymphedema-Distichiasis Syndrome *","synonyms":["lymphedema with distichiasis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/lymphedema-distichiasis-syndrome\/"},{"id":"259625","title":"S\u00edndrome de linfedema-distiquiasis *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/lymphedema-distichiasis-syndrome\/"},{"id":"1384","title":"Lymphocytic Infiltrate of Jessner *","synonyms":["benign lymphocytic infiltrate of the skin","Jessner-Kanof lymphocytic infiltration","benign lymphocytic infiltration","Jessner disease","Jessner-Kanof syndrome","benign chronic T-cell infiltrative disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/lymphocytic-infiltrate-of-jessner\/"},{"id":"1385","title":"Lymphomatoid Granulomatosis *","synonyms":["benign lymph angiitis and granulomatosis","malignant lymph angiitis and granulomatosis","pulmonary angiitis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/lymphomatoid-granulomatosis\/"},{"id":"258245","title":"Granulomatosis linfomatoide *","synonyms":["LYG ","Angitis linf\u00e1tica benigna y granulomatosis","Angiitis pulmonar"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/lymphomatoid-granulomatosis\/"},{"id":"1387","title":"Lysosomal Free Sialic Acid Storage Disorders *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/lysosomal-free-sialic-acid-storage-disorders\/"},{"id":"1388","title":"Lysosomal Storage Disorders *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/lysosomal-storage-disorders\/"},{"id":"1389","title":"Machado-Joseph Disease *","synonyms":["Autosomal Dominant Spinocerebellar Degeneration","Azorean Neurologic Disease","Joseph Disease","Machado Disease","MJD","Nigrospinodentatal Degeneration","Spinocerebellar Ataxia Type III (SCA 3)","Striatonigral Degeneration, Autosomal Dominant Type"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/machado-joseph-disease\/"},{"id":"1390","title":"Macroglossia *","synonyms":["Enlarged Tongue","Giant Tongue"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/macroglossia\/"},{"id":"1392","title":"Madelung's Disease *","synonyms":["benign symmetrical lipomatosis (BSL)","cephalothoracic lipodystrophy","launois-bensaude syndrome","multiple symmetric lipomatosis (MSL)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/madelungs-disease\/"},{"id":"259861","title":"Enfermedad de Madelung *","synonyms":["Lipomatosis sim\u00e9trica m\u00faltiple ","Lipodistrofia cefalotor\u00e1cica ","Lipomatosis cervical familiar benigna ","Lipomatosis de Launois-Bensaude","Lipomatosis sim\u00e9trica benigna "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/madelungs-disease\/"},{"id":"1393","title":"Maffucci Syndrome *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/maffucci-syndrome\/"},{"id":"1394","title":"Mal de Debarquement *","synonyms":["MDD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/mal-de-debarquement\/"},{"id":"258232","title":"Enfermedad del desembarco *","synonyms":["MdD ","MdDS ","S\u00edndrome 'mal de d\u00e9barquement'","S\u00edndrome del desembarco"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/mal-de-debarquement\/"},{"id":"1395","title":"Malaria *","synonyms":["Acute Malaria","Ague","Autochthonous Malaria","Chronic Malaria","Imported Malaria","Induced Malaria","Intermittent Malaria","Jungle Fever","Paludism","Relapsing Malaria","Swamp Fever","Therapeutic Malaria"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/malaria\/"},{"id":"1396","title":"Malignant Hyperthermia *","synonyms":["Hyperpyrexia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/malignant-hyperthermia\/"},{"id":"1397","title":"Mallory Weiss Syndrome *","synonyms":["Gastroesophageal Laceration-Hemorrhage","Mallory-Weiss Laceration","Mallory-Weiss Tear"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/mallory-weiss-syndrome\/"},{"id":"1398","title":"Mandibuloacral Dysplasia *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/mandibuloacral-dysplasia\/"},{"id":"1399","title":"Mantle Cell Lymphoma *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/mantle-cell-lymphoma\/"},{"id":"1400","title":"Maple Syrup Urine Disease *","synonyms":["BCKD Deficiency","branched-chain ketoacid dehydrogenase deficiency","branched-chain ketoaciduria","MSUD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/maple-syrup-urine-disease\/"},{"id":"273815","title":"Enfermedad de la orina con olor a jarabe de arce (MSUD) *","synonyms":["Deficiencia de BCKD ","Deficiencia de deshidrogenasa de ceto\u00e1cidos de cadena ramificada ","Cetoaciduria de cadena ramificada","MSUD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/maple-syrup-urine-disease\/"},{"id":"1401","title":"Marcus Gunn Phenomenon *","synonyms":["Marcus Gunn (Jaw-Winking) Syndrome","Marcus Gunn Ptosis (with jaw-winking)","Maxillopalpebral Synkinesis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/marcus-gunn-phenomenon\/"},{"id":"1402","title":"Marden Walker Syndrome *","synonyms":["Connective Tissue Disorder, Marden-Walker Type","MWS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/marden-walker-syndrome\/"},{"id":"1403","title":"Marfan Syndrome *","synonyms":["MFS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/marfan-syndrome\/"},{"id":"142753","title":"S\u00edndrome de Marfan *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/sindrome-de-marfan\/"},{"id":"1404","title":"Marinesco-Sj\u00f6gren Syndrome *","synonyms":["Garland-Moorhouse syndrome","hereditary oligophrenic cerebello-lental degeneration","Marinesco-Garland syndrome","MSS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/marinesco-sjogren-syndrome\/"},{"id":"1405","title":"Maroteaux Lamy Syndrome *","synonyms":["arylsulfatase-B Deficiency","MPS 6","MPS type VI","MPS VI","mucopolysaccharidosis type VI","polydystrophic dwarfism"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/maroteaux-lamy-syndrome\/"},{"id":"1406","title":"Marshall-Smith Syndrome *","synonyms":["MSS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/marshall-smith-syndrome\/"},{"id":"1407","title":"Marshall Syndrome *","synonyms":["deafness-myopia-cataract-saddle nose, Marshall type"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/marshall-syndrome\/"},{"id":"1408","title":"Mastocytosis *","synonyms":["clonal mast cell disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/mastocytosis\/"},{"id":"273314","title":"Mastocitosis *","synonyms":["Enfermedad clonal de mastocitos Subdivisiones "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/mastocytosis\/"},{"id":"1409","title":"Maternally Inherited Leigh Syndrome and NARP Syndrome *","synonyms":["MILS-NARP syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/maternally-inherited-leigh-syndrome-and-narp-syndrome\/"},{"id":"1410","title":"Maxillofacial Dysostosis *","synonyms":["autosomal dominant maxillofacial dysostosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/maxillofacial-dysostosis\/"},{"id":"1411","title":"May Hegglin Anomaly *","synonyms":["Dohle Leukocyte Inclusions with Giant Platelets","Dohle's Bodies-Myelopathy","Hegglin's Disease","Leukocytic Inclusions with Platelet Abnormality","Macrothrombocytopenia with Leukocyte Inclusions","MHA"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/may-hegglin-anomaly\/"},{"id":"1412","title":"Mayer-Rokitansky-K\u00fcster-Hauser Syndrome *","synonyms":["congenital absence of the uterus and vagina (CAUV)","genital renal ear syndrome (GRES)","MRKH","MRKH syndrome","Mullerian agenesis","Mullerian aplasia","Rokitansky syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/mayer-rokitansky-kuster-hauser-syndrome\/"},{"id":"1413","title":"McCune-Albright Syndrome *","synonyms":["Albright syndrome","MAS","osteitis fibrosa disseminata","PFD","POFD","polyostotic, fibrous dysplasia","precocious puberty with polyostotic fibrosis and abnormal pigmentation"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/mccune-albright-syndrome\/"},{"id":"1414","title":"McKusick Type Metaphyseal Chondrodysplasia *","synonyms":["cartilage-hair hypoplasia","CHH"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/mckusick-type-metaphyseal-chondrodysplasia\/"},{"id":"271252","title":"Condrodisplasia Metafisaria Tipo McKusick *","synonyms":["Hipoplasia de cart\u00edlago y cabello ","CHH"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/mckusick-type-metaphyseal-chondrodysplasia\/"},{"id":"1415","title":"MCT8-Specific Thyroid Hormone Cell Transporter Deficiency *","synonyms":["AHDS","Allan-Herndon-Dudley syndrome","MCT8 deficiency","THCT deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/mct8-specific-thyroid-hormone-cell-transporter-deficiency\/"},{"id":"253877","title":"Deficiencia del transportador de c\u00e9lulas de hormona tiroidea espec\u00edfica de MCT8 *","synonyms":["Deficiencia de MCT8","S\u00edndrome de Allan-Herndon-Dudley "," Deficiencia de THCT ","AHDS","Deficiencia del transportador de monocarboxilato 8 ","Discapacidad intelectual ligada al cromosoma X-hipoton\u00eda"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/mct8-specific-thyroid-hormone-cell-transporter-deficiency\/"},{"id":"1416","title":"MDR3 Deficiency *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/mdr3-deficiency\/"},{"id":"258374","title":"Deficiencia de MDR3 *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/mdr3-deficiency\/"},{"id":"1417","title":"Measles *","synonyms":["morbilli","nine day measles","rubeola"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/measles\/"},{"id":"1418","title":"Meckel Syndrome *","synonyms":["dysencephalia splanchnocystica","Gruber syndrome","Meckel-Gruber syndrome","MES","MKS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/meckel-syndrome\/"},{"id":"1419","title":"MECP2 Duplication Syndrome *","synonyms":["trisomy Xq28","Xq28 duplication syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/mecp2-duplication-syndrome\/"},{"id":"1420","title":"Medium Chain Acyl CoA Dehydrogenase Deficiency *","synonyms":["MCAD deficiency","ACADM deficiency","MCADH deficiency","medium chain acyl-coenzyme A dehydrogenase deficiency","MCADD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/medium-chain-acyl-coa-dehydrogenase-deficiency\/"},{"id":"1421","title":"Medullary Sponge Kidney *","synonyms":["Cacchi-Ricci Disease","Cystic Dilatation of Renal Collecting Tubes","Precalyceal Canalicular Ectasia","Sponge Kidney","Tubular Ectasia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/medullary-sponge-kidney\/"},{"id":"1422","title":"Medulloblastoma *","synonyms":["primitive neuroectodermal tumor of the posterior fossa"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/medulloblastoma\/"},{"id":"1423","title":"Megalencephaly-Capillary Malformation *","synonyms":["macrocephaly-capillary malformation","macrocephaly-cutis marmorata telangiectatica congenita","MCAP","M-CM","M-CM syndrome","M-CMTC"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/megalencephaly-capillary-malformation\/"},{"id":"259735","title":"S\u00edndrome de megalencefalia-malformaci\u00f3n capilar *","synonyms":["Macrocefalia-malformaci\u00f3n capilar ","Macrocefalia-cutis marmorata telangiectatica cong\u00e9nita","MCAP ","MCM ","S\u00edndrome M-CM ","M-CMTC"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/megalencephaly-capillary-malformation\/"},{"id":"1424","title":"Megalocornea Intellectual Disability Syndrome *","synonyms":["MMR syndrome","Neuhauser syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/megalocornea-intellectual-disability-syndrome\/"},{"id":"271250","title":"S\u00edndrome de megaloc\u00f3rnea-discapacidad intelectual *","synonyms":["S\u00edndrome MMR ","S\u00edndrome de Neuhauser","S\u00edndrome de Neuh\u00e4user "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/megalocornea-intellectual-disability-syndrome\/"},{"id":"1425","title":"Meige Syndrome *","synonyms":["Brueghel Syndrome","Idiopathic Blepharospasm-Oromandibular Dystonia Syndrome","Segmental Cranial Dystonia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/meige-syndrome\/"},{"id":"1426","title":"Melanoma, Malignant *","synonyms":["Melanoblastoma","Melanocarcinoma","Melanoepithelioma","Melanoma","Melanosarcoma","Melanoscirrhus","Melanotic Carcinoma","Nevus Pigmentosa"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/melanoma-malignant\/"},{"id":"1427","title":"MELAS Syndrome *","synonyms":["Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, Stroke-Like Episod","Myopathy, Mitochondrial-Encephalopathy-Lactic 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Needles "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/sindrome-de-melnick-needles\/"},{"id":"1431","title":"Melorheostosis *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/melorheostosis\/"},{"id":"256196","title":"Melorreostosis *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/melorheostosis\/"},{"id":"1432","title":"Menetrier Disease *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/menetrier-disease\/"},{"id":"1435","title":"Meningitis *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/meningitis\/"},{"id":"1436","title":"Meningitis, Bacterial *","synonyms":["Bacterial Meningitis","Pyogenic 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neurofibromatosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/neurofibromatosis-type-1-nf1\/"},{"id":"143430","title":"Neurofibromatosis 1 *","synonyms":["NF1","Enfermedad de Von Recklinghausen ","Neurofibromatosis de von Recklinghausen "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/neurofibromatosis-1\/"},{"id":"1503","title":"NF2-Related Schwannomatosis *","synonyms":["Bilateral acoustic neurofibromatosis (BANF) ","Central neurofibromatosis","NF2","Neurofibromatosis tipo II","Neurofibromatosis 2"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/neurofibromatosis-2\/"},{"id":"153206","title":"Schwannomatosis relacionada con NF2 *","synonyms":["Neurofibromatosis ac\u00fastica bilateral (BANF) ","Neurofibromatosis central","NF2","Neurofibromatosis tipo II","Neurofibromatosis 2"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/neurofibromatosis-2\/"},{"id":"1504","title":"Neuroleptic Malignant Syndrome *","synonyms":["Drug-Induced Movement Disorder","Hyperthermia","Neuroleptic-Induced Acute Dystonia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/neuroleptic-malignant-syndrome\/"},{"id":"1505","title":"Neuromyelitis Optica Spectrum Disorder *","synonyms":["(Asian, Japanese) opticospinal MS","Devic disease","Devic syndrome","optic neuromyelitis","opticomyelitis","NMOSD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/neuromyelitis-optica\/"},{"id":"1506","title":"Neuropathy, Congenital Hypomyelination *","synonyms":["Charcot-Marie-Tooth Type 4E","CHN","CMT4E","Congenital Dysmyelinating Neuropathy","Congenital Hypomyelinating Polyneuropathy","Congenital Hypomyelination","Congenital Hypomyelination Neuropathy","Congenital Hypomyelination (Onion Bulb), Polyneuropathy","Congenital Neuropathy caused by Hypomyelination","Hypomyelination Neuropathy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/neuropathy-congenital-hypomyelination\/"},{"id":"1507","title":"Nevoid Basal Cell Carcinoma Syndrome *","synonyms":["basal cell nevus syndrome","BCNS","Gorlin-Goltz syndrome","Gorlin syndrome","Hermans-Herzberg phakomatosis","NBCCS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/nevoid-basal-cell-carcinoma-syndrome\/"},{"id":"258499","title":"S\u00edndrome del carcinoma basocelular nevoide *","synonyms":["S\u00edndrome del nevo de c\u00e9lulas basales","S\u00edndrome de Gorlin","S\u00edndrome de Gorlin-Goltz ","S\u00edndrome del carcinoma nevoide de c\u00e9lulas basales ","NBCCS","Facomatosis de Hermans-Herzberg "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/nevoid-basal-cell-carcinoma-syndrome\/"},{"id":"1508","title":"NORSE (New Onset Refractory Status Epilepticus) and FIRES (Febrile Infection-Related Epilepsy Syndrome) *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/new-onset-refractory-status-epilepticus-norse\/"},{"id":"1509","title":"Niemann Pick Disease Type C *","synonyms":["NPC","NPD-C"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/niemann-pick-disease-type-c\/"},{"id":"273603","title":"Enfermedad de Niemann-Pick Tipo C *","synonyms":["NPC","NPD-C","Enfermedad de Niemann Pick Tipo C"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/niemann-pick-disease-type-c\/"},{"id":"1510","title":"Nocardiosis *","synonyms":["Lung Nocardiosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/nocardiosis\/"},{"id":"1511","title":"Non-24-Hour Sleep-Wake Disorder *","synonyms":["circadian rhythm sleep disorder, free-running type","free-running disorder","hypernychthemeral syndrome","N24","non-24","non-24-hour disorder","non-24-hour sleep-wake cycle disorder","non-24-hour sleep-wake syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/non-24-hour-sleep-wake-disorder\/"},{"id":"1512","title":"Nonketotic Hyperglycinemia *","synonyms":["glycine encephalopathy","NKH"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/nonketotic-hyperglycinemia\/"},{"id":"1513","title":"Noonan Syndrome *","synonyms":["female pseudo-Turner syndrome","male Turner syndrome","NS","Turner phenotype with normal chromosomes (karyotype)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/noonan-syndrome\/"},{"id":"255704","title":"S\u00edndrome de Noonan *","synonyms":["SN","S\u00edndrome pseudo-Turner femenino ","S\u00edndrome de Turner masculino","Fenotipo de Turner con cromosomas normales (cariotipo)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/noonan-syndrome\/"},{"id":"1514","title":"Norrie Disease *","synonyms":["atrophia bulborum hereditaria","Episkopi blindness","ND","NDP (Norrie disease pseudoglioma)","Norrie syndrome","Norrie-Warburg disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/norrie-disease\/"},{"id":"1515","title":"Urofacial Syndrome *","synonyms":["Ochoa syndrome","hydronephrosis with peculiar facial expression","inverted smile and occult neuropathic bladder","partial facial palsy with urinary abnormalities","UFS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/urofacial-syndrome\/"},{"id":"150586","title":"S\u00edndrome urofacial *","synonyms":["S\u00edndrome de Ochoa","Hidronefrosis con expresi\u00f3n facial peculiar","Sonrisa invertida y vejiga neurop\u00e1tica oculta","Par\u00e1lisis facial parcial con anomal\u00edas urinarias","Par\u00e1lisis facial parcial con anomal\u00edas del tracto urinario","Sonrisa invertida-vejiga neur\u00f3gena"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/urofacial-syndrome\/"},{"id":"1516","title":"Ocular Albinism *","synonyms":["Nettleship-Falls ocular albinism","OA1","ocular albinism type 1","X-linked ocular albinism","XLOA"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ocular-albinism\/"},{"id":"1517","title":"Ocular Motor Apraxia, Cogan Type *","synonyms":["COMA","Congenital Oculomotor Apraxia","oculomotor apraxia, Cogan 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*","synonyms":["oculocerebral syndrome hypopigmentation syndrome, Cross type","Cross-McKusick-Breen syndrome","Cross syndrome","depigmentation-gingival fibromatosis-microphthalmia","Kramer syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/oculocerebral-syndrome-with-hypopigmentation\/"},{"id":"258766","title":"S\u00edndrome oculocerebral con hipopigmentaci\u00f3n *","synonyms":["S\u00edndrome de hipopigmentaci\u00f3n oculocerebral, tipo Cross ","S\u00edndrome Cross-McKusick-Breen","S\u00edndrome de Cross ","S\u00edndrome Cross ","Despigmentaci\u00f3n-Fibromatosis gingival-Microftalmia","S\u00edndrome de Kramer"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/oculocerebral-syndrome-with-hypopigmentation\/"},{"id":"1521","title":"Oculocerebrocutaneous Syndrome *","synonyms":["Delleman-Oorthuys syndrome","Delleman syndrome","OCCS","OCC syndrome","orbital cyst with cerebral and focal dermal malformations"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/oculocerebrocutaneous-syndrome\/"},{"id":"1522","title":"Oculocutaneous Albinism *","synonyms":["brown oculocutaneous albinism","minimal pigment oculocutaneous albinism","OCA1","OCA1A","OCA1B","OCA3","OCA4","oculocutaneous albinism type 1B","platinum oculocutaneous albinism","rufous oculocutaneous albinism","temperature-sensitive oculocutaneous albinism","tyrosinase-negative oculocutaneous albinism","tyrosinase-positive oculocutaneous albinism","tyrosinase-related OCA","yellow oculocutaneous albinism","OCA5","OCA6","OCA7","oculocutaneous albinism type 1A"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/oculocutaneous-albinism\/"},{"id":"1523","title":"Oculopharyngeal Muscular Dystrophy *","synonyms":["autosomal dominant OPMD","autosomal recessive OPMD","OPMD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/oculopharyngeal-muscular-dystrophy\/"},{"id":"1524","title":"Ogilvie syndrome *","synonyms":["ACPO","acute colonic pseudo-obstruction","colonic pseudo-obstruction","Ogilvie's syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ogilvie-syndrome\/"},{"id":"1525","title":"Olivopontocerebellar Atrophy *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/olivopontocerebellar-atrophy\/"},{"id":"1526","title":"Ollier Disease *","synonyms":["dyschondroplasia","enchondromatosis","multiple cartilaginous enchondroses","multiple enchondromatosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ollier-disease\/"},{"id":"1527","title":"Opsoclonus-Myoclonus-Ataxia Syndrome *","synonyms":["dancing eyes-dancing feet","dancing eye syndrome (term usually used in UK)","Kinsbourne 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Lip\/Palate with Abnormal Thumbs and Microcephaly","Cranio-Oro-Digital Syndrome","Digital-Oro-Cranio Syndrome","Juberg Hayward Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/orocraniodigital-syndrome\/"},{"id":"1532","title":"Orthostatic Hypotension *","synonyms":["postural hypotension"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/orthostatic-hypotension\/"},{"id":"1533","title":"OSMED, Heterozygous *","synonyms":["Oto-Spondylo-Megaepiphyseal Dysplasia, Autosomal Dominant","Oto-Spondylo-Megaepiphyseal Dysplasia, Heterozygous","Pierre-Robin Syndrome with Fetal Chondrodysplasia","Stickler Syndrome Type III","Weissenbacher-Zweymuller Syndrome","WZS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/osmed-heterozygous\/"},{"id":"1534","title":"OSMED, Homozygous *","synonyms":["Nance-Sweeney syndrome","oto-spondylo-megaepiphyseal dysplasia, autosomal recessive","oto-spondylo-megaepiphyseal dysplasia, homozygous"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/osmed-homozygous\/"},{"id":"1535","title":"Osteogenesis Imperfecta *","synonyms":["brittle bone disease","brittle bone dysplasia","OI"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/osteogenesis-imperfecta\/"},{"id":"256071","title":"Osteog\u00e9nesis imperfecta *","synonyms":["Enfermedad de los huesos fr\u00e1giles ","Displasia de huesos fr\u00e1giles ","OI"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/osteogenesis-imperfecta\/"},{"id":"1536","title":"Osteomyelitis *","synonyms":["direct or contiguous osteomyelitis."],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/osteomyelitis\/"},{"id":"1537","title":"Osteonecrosis *","synonyms":["aseptic necrosis","avascular necrosis of bone","ischemic necrosis of bone"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/osteonecrosis\/"},{"id":"1538","title":"Osteopetrosis *","synonyms":["Albers-Schonberg disease","marble bone disease","osteosclerosis fragilis generalisata"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/osteopetrosis\/"},{"id":"1539","title":"Otopalatodigital Syndrome Type I and II *","synonyms":["cranioorodigital syndrome","faciopalatoosseous syndrome","FPO","OPD syndrome","Taybi syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/otopalatodigital-syndrome-type-i-and-ii\/"},{"id":"1540","title":"Ovotesticular Disorder of Sex Development *","synonyms":["ovotesticular DSD","true gonadal intersex","true hermaphroditism"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ovotesticular-disorder-of-sex-development\/"},{"id":"1541","title":"Pachydermoperiostosis *","synonyms":["primary hypertrophic osteoarthropathy","pachydermoperiostosis syndrome","Rosenfeld-Kloepfer syndrome","Touraine-Solente-Gole syndrome","PHO"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pachydermoperiostosis\/"},{"id":"256130","title":"Paquidermoperiostosis *","synonyms":["Osteoartropat\u00eda hipertr\u00f3fica primaria"," S\u00edndrome de paquidermoperiostosis ","S\u00edndrome de Rosenfeld-Kloepfer ","S\u00edndrome de Touraine-Solente-Gol\u00e9 ","FO"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/pachydermoperiostosis\/"},{"id":"1542","title":"Pachyonychia Congenita *","synonyms":["PC"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pachyonychia-congenita\/"},{"id":"1543","title":"Paget's Disease *","synonyms":["osteitis deformans","Paget's disease of bone"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pagets-disease\/"},{"id":"1544","title":"Paget's Disease of the Breast *","synonyms":["mammary Paget's disease","Paget's disease of the nipple","Paget's disease of the nipple and areola"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pagets-disease-of-the-breast\/"},{"id":"1545","title":"Pallister-Hall Syndrome *","synonyms":["CAVE (cerebro-acro-visceral early lethality) complex","congenital hypothalamic hamartoblastoma syndrome","Hall-Pallister syndrome","PHS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pallister-hall-syndrome\/"},{"id":"143987","title":"S\u00edndrome de Pallister-Hall *","synonyms":["S\u00edndrome de Hall-Pallister","PHS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/sindrome-de-pallister-hall\/"},{"id":"1546","title":"Pallister Killian Mosaic Syndrome *","synonyms":["chromosome 12, Isochromosome 12p syndrome","Killian syndrome","Killian Teschler-Nicola syndrome","Pallister mosaic syndrome","Teschler-Nicola Killian syndrome","PKS","isochromosome 12p syndrome","tetrasomy 12p, mosaic"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pallister-killian-mosaic-syndrome\/"},{"id":"1547","title":"Pallister W Syndrome *","synonyms":["W Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pallister-w-syndrome\/"},{"id":"1548","title":"Pancreatic Neuroendocrine Neoplasms (pNENs) *","synonyms":["pancreatic endocrine tumors","pancreatic islet cell tumors","pancreatic neuroendocrine tumors","pNET","islet cell carcinoma","islet cell tumors"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pancreatic-neuroendocrine-neoplasms-pnens\/"},{"id":"1549","title":"Idiopathic Nodular Panniculitis *","synonyms":["nodular nonsuppurative panniculitis","Pfeiffer-Weber-Christian syndrome","relapsing febrile nodular nonsuppurative panniculitis","Weber Christian Disease (so-called)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/panniculitis-idiopathic-nodular\/"},{"id":"256139","title":"Paniculitis nodular idiop\u00e1tica *","synonyms":["Paniculitis nodular no supurativa","S\u00edndrome de Pfeiffer-Weber-Christian ","Paniculitis nodular febril no supurativa recurrente ","Enfermedad de Weber Christian "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/panniculitis-idiopathic-nodular\/"},{"id":"1550","title":"Pantothenate Kinase-Associated Neurodegeneration *","synonyms":["Hallervorden-Spatz Syndrome","HARP","HSS","NBIA1","neurodegeneration with brain iron accumulation type 1","Pigmentary Degeneration of Globus Pallidus, Substantia Nigra, Red Nucleus","PKAN"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pantothenate-kinase-associated-neurodegeneration\/"},{"id":"1551","title":"Papillitis *","synonyms":["Optic Nerve Papillitis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/papillitis\/"},{"id":"1552","title":"Papillon Lef\u00e8vre Syndrome *","synonyms":["keratoris palmoplantaris with periodontopathia","PLS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/papillon-lefevre-syndrome\/"},{"id":"1553","title":"Paracoccidioidomycosis *","synonyms":["Lobo Disease","Lutz-Splendore-Almeida Disease","Paracoccidioidal Granuloma","PCM","South American Blastomycosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/paracoccidioidomycosis\/"},{"id":"1554","title":"Paramyotonia Congenita *","synonyms":["Eulenburg disease","paralysis periodica paramyotonica","paramyotonia congenita of von Eulenburg","PMC","Von Eulenburg's disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/paramyotonia-congenita\/"},{"id":"1555","title":"Paraneoplastic Neurologic Syndromes *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/paraneoplastic-neurologic-syndromes\/"},{"id":"1556","title":"Paroxysmal Cold Hemoglobinuria *","synonyms":["Donath-Landsteiner hemolytic anemia","Donath-Landsteiner syndrome","immune hemolytic anemia, paroxysmal cold","PCH"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/paroxysmal-cold-hemoglobinuria\/"},{"id":"1557","title":"Paroxysmal Nocturnal Hemoglobinuria *","synonyms":["PNH"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/paroxysmal-nocturnal-hemoglobinuria\/"},{"id":"142782","title":"Hemoglobinuria parox\u00edstica nocturna *","synonyms":["HPN"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/hemoglobinuria-paroxistica-nocturna\/"},{"id":"1558","title":"Parry Romberg Syndrome *","synonyms":["hemifacial atrophy (HFA)","progressive facial hemiatrophy","progressive hemifacial atrophy","PRS","Romberg syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/parry-romberg-syndrome\/"},{"id":"259742","title":"S\u00edndrome de Parry-Romberg *","synonyms":["Atrofia hemifacial (HFA) ","Hemiatrofia facial progresiva ","Atrofia hemifacial progresiva ","PRS ","S\u00edndrome de Romberg"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/parry-romberg-syndrome\/"},{"id":"1559","title":"Pars Planitis *","synonyms":["Intermediate Uveitis (UI)","Peripheral Retinal 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syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/penta-x-syndrome\/"},{"id":"256789","title":"Pentasom\u00eda X *","synonyms":["Penta-X ","Poli-X","S\u00edndrome 49,XXXXX ","Cariotipo 49, XXXXX ","Pentasom\u00eda del cromosoma X ","S\u00edndrome XXXXX ","S\u00edndrome Penta X ","S\u00edndrome de penta X"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/penta-x-syndrome\/"},{"id":"1566","title":"Pentalogy of Cantrell *","synonyms":["Cantrell deformity","Cantrell pentalogy","Cantrell syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pentalogy-of-cantrell\/"},{"id":"1567","title":"PEPCK Deficiency *","synonyms":["phosphoenolpyruvate carboxykinase deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pepck-deficiency\/"},{"id":"256755","title":"Deficiencia de PEPCK *","synonyms":["Deficiencia de fosfoenolpiruvato 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tumors","extra-adrenal paraganglioma","extra-adrenal pheochromocytoma"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pheochromocytoma\/"},{"id":"1577","title":"Phosphoglycerate Kinase Deficiency *","synonyms":["anemia, hemolytic with PGK deficiency","erythrocyte phosphoglycerate kinase deficiency","PGK","phosphoglycerokinase"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/phosphoglycerate-kinase-deficiency\/"},{"id":"1578","title":"Frontotemporal Degeneration *","synonyms":["frontotemporal dementia","frontotemporal lobar degeneration","FTD","FTLD","Pick\u2019s disease (limited, see below)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/frontotemporal-degeneration\/"},{"id":"1579","title":"Pierre Robin Sequence *","synonyms":["glossoptosis, micrognathia, and cleft palate","PRS","Robin 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"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/pityriasis-rubra-pilaris\/"},{"id":"1583","title":"Plague *","synonyms":["Black Death","La Peste","pestilential fever"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/plague\/"},{"id":"153077","title":"Peste *","synonyms":["Muerte negra","La Peste","Fiebre pestilente"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/plague\/"},{"id":"1584","title":"Pleuropulmonary Blastoma *","synonyms":["cystic mesenchymal hamartoma","mesenchymal cystic hamartoma","pneumoblastoma","PPB","pulmonary rhabdomyosarcoma","rhabdomyosarcoma in lung cyst","CPAM\/CCAM type 4"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pleuropulmonary-blastoma\/"},{"id":"270861","title":"Blastoma pleuropulmonar *","synonyms":["Hamartoma mesenquimatoso qu\u00edstico ","Hamartoma qu\u00edstico mesenquimatoso ","Neumoblastoma 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obliterative cholangitis","fibrosing cholangitis","PSC","stenosing cholangitis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/primary-sclerosing-cholangitis\/"},{"id":"1614","title":"Primary Visual Agnosia *","synonyms":["agnosis, primary","apperceptive agnosia","associative agnosia","monomodal visual amnesia","visual amnesia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/primary-visual-agnosia\/"},{"id":"1615","title":"Proctitis *","synonyms":["Antibiotic-Induced Proctitis","Gonorrheal Proctitis","Herpetic Proctitis","Ischemic Proctitis","Radiation Proctitis","Syphilitic Proctitis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/proctitis\/"},{"id":"1616","title":"Progressive Multifocal Leukoencephalopathy 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*","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/proteus-syndrome\/"},{"id":"1623","title":"Prune Belly Syndrome *","synonyms":["Abdominal Muscle Deficiency Syndrome","Congenital Absence of the Abdominal Muscles","Deficiency of abdominal musculature","Eagle-Barrett Syndrome","Obrinsky Syndrome","Triad syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/prune-belly-syndrome\/"},{"id":"1624","title":"Pseudo Hurler Polydystrophy *","synonyms":["ML IIIA","ML III alpha\/beta","mucolipidosis IIIA","mucolipidosis III alpha\/beta"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pseudo-hurler-polydystrophy\/"},{"id":"1625","title":"Pseudoachondroplasia *","synonyms":["PSACH"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pseudoachondroplasia\/"},{"id":"1626","title":"Pseudocholinesterase Deficiency *","synonyms":["Apnea, 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adenocarcinoma","mucinous cystadenoma","peritoneal carcinomatosis","peritoneal mucinous carcinomatosis (PMCA)","PMP","pseudomyxoma ovarii"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pseudomyxoma-peritonei\/"},{"id":"1629","title":"Pseudoxanthoma Elasticum *","synonyms":["PXE","Gronblad-Strandberg syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pseudoxanthoma-elasticum-pxe\/"},{"id":"1630","title":"Psittacosis *","synonyms":["ornithosis","parrot fever"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/psittacosis\/"},{"id":"1631","title":"PTEN Hamartoma Tumor Syndrome *","synonyms":["PHTS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pten-hamartoma-tumor-syndrome\/"},{"id":"1632","title":"Pterygium Syndrome, Multiple *","synonyms":["Escobar Syndrome","multiple pterygium syndrome","pterygium colli syndrome","pterygium universale"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pterygium-syndrome-multiple\/"},{"id":"1633","title":"Pulmonary Alveolar Proteinosis *","synonyms":["PAP","pulmonary alveolar lipoproteinosis","phospholipidosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pulmonary-alveolar-proteinosis\/"},{"id":"153195","title":"Proteinosis alveolar pulmonar *","synonyms":["PAP","Lipoproteinosis alveolar pulmonar ","Fosfolipidosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/pulmonary-alveolar-proteinosis\/"},{"id":"1634","title":"Pulmonary Arterial Hypertension *","synonyms":["FPAH","HPAH","idiopathic pulmonary arterial hypertension","IPAH","PAH","precapillary pulmonary hypertension","primary obliterative pulmonary vascular disease","primary pulmonary hypertension","associated pulmonary arterial 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*","synonyms":["Hydrophobia","Lyssa"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/rabies\/"},{"id":"1645","title":"Rabson-Mendenhall Syndrome *","synonyms":["Mendenhall syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/rabson-mendenhall-syndrome\/"},{"id":"271343","title":"S\u00edndrome de Rabson-Mendenhall *","synonyms":["S\u00edndrome de Mendenhall"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/rabson-mendenhall-syndrome\/"},{"id":"1646","title":"Radiation Sickness *","synonyms":["Radiation Disease","Radiation Effects","Radiation Illness","Radiation Injuries","Radiation Reaction","Radiation Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/radiation-sickness\/"},{"id":"1647","title":"Ramsay Hunt Syndrome *","synonyms":["facial nerve palsy due to herpes zoster infection","geniculate neuralgia","herpes zoster oticus","nervus intermedius neuralgia","Ramsay Hunt syndrome type 2 (formerly)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ramsay-hunt-syndrome\/"},{"id":"144012","title":"S\u00edndrome de Ramsay Hunt *","synonyms":["Par\u00e1lisis del nervio facial por VZV ","Par\u00e1lisis del nervio facial por una infecci\u00f3n por herpes z\u00f3ster ","Neuralgia geniculada","Herpes z\u00f3ster \u00f3tico "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/sindrome-de-ramsay-hunt\/"},{"id":"1648","title":"Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation *","synonyms":["late onset central hypoventilation syndrome with hypothalamic 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disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/refractory-celiac-disease\/"},{"id":"1654","title":"Refsum Disease *","synonyms":["disorder of cornification 11 (phytanic acid type)","DOC 11 (phytanic acid type)","heredopathia atactica polyneuritiformis","hereditary sensory and motor neuropathy type 4 (HMSN 4)","hypertrophic neuropathy of Refsum","phytanic acid storage disease","phytanic acid oxidase deficiency","adult Refsum disease","classic Refsum disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/refsum-disease\/"},{"id":"1655","title":"Relapsing Polychondritis *","synonyms":["chronic atrophic polychondritis","generalized or systemic chondromalocia","Meyenburg-Altherr-Uehlinger syndrome","relapsing perichondritis","von Meyenburg disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/relapsing-polychondritis\/"},{"id":"1656","title":"Renal Agenesis, 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*","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/roberts-syndrome\/"},{"id":"191077","title":"Trastorno del espectro ESCO2 *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/roberts-syndrome\/"},{"id":"1673","title":"Robinow Syndrome *","synonyms":["acral dysostosis with facial and genital abnormalities","costovertebral segmentation defect with mesomelia (formerly)","fetal face syndrome","Robinow-Silverman syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/robinow-syndrome\/"},{"id":"1674","title":"Rocky Mountain Spotted Fever *","synonyms":["RMSF","Sao Paulo Typhus","Tickborne Typhus Fever"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/rocky-mountain-spotted-fever\/"},{"id":"1675","title":"Long QT Syndrome *","synonyms":["Autosomal Dominant Long QT syndrome","Long QT syndrome without deafness","LQTS","Romano-Ward Long QT syndrome","RWS","Ward-Romano syndrome","Romano-Ward syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/romano-ward-syndrome\/"},{"id":"1676","title":"Rosai-Dorfman Disease *","synonyms":["RDD","SHML","sinus histiocytosis with massive lymphadenopathy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/rosai-dorfman-disease\/"},{"id":"1677","title":"Rosenberg Chutorian Syndrome *","synonyms":["Charcot-Marie-Tooth neuropathy X type 5","Charcot-Marie-Tooth, X-linked recessive 5 (CMTX5)","optic atrophy, polyneuropathy, and deafness","polyneuropathy-deafness-optic atrophy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/rosenberg-chutorian-syndrome\/"},{"id":"1678","title":"Rothmund-Thomson Syndrome *","synonyms":["poikiloderma atrophicans and cataract","poikiloderma 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Congenital *","synonyms":["Congenital German Measles","Congenital Rubella Syndrome","Expanded Rubella Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/rubella-congenital\/"},{"id":"1682","title":"Rubinstein-Taybi Syndrome *","synonyms":["RSTS","Rubinstein syndrome","Rubinstein Taybi (RTS) broad thumb-hallux syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/rubinstein-taybi-syndrome\/"},{"id":"1683","title":"Russell-Silver Syndrome *","synonyms":["RSS","Russell-Silver dwarfism","Russell syndrome","Silver-Russell dwarfism","Silver-Russell syndrome","Silver syndrome","SRS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/russell-silver-syndrome\/"},{"id":"151126","title":"S\u00edndrome de Russell-Silver *","synonyms":["RSS","Enanismo de Russell-Silver ","S\u00edndrome de Russell ","Enanismo de Plata-Russell ","S\u00edndrome de Silver-Russell ","S\u00edndrome de Plata","SRS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/russell-silver-syndrome\/"},{"id":"1684","title":"Bannayan-Riley-Ruvalcaba Syndrome *","synonyms":["BRRS","Riley-Smith syndrome","Bannayan-Zonana syndrome","Ruvalcaba-Myhre-Smith syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ruvalcaba-syndrome\/"},{"id":"1685","title":"Sacrococcygeal Teratoma *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/sacrococcygeal-teratoma\/"},{"id":"1686","title":"Saethre Chotzen Syndrome *","synonyms":["acrocephalosyndactyly type III","acrocephaly, skull asymmetry, and mild syndactyly","ACS3","ACS type III","Chotzen syndrome","SCS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/saethre-chotzen-syndrome\/"},{"id":"1687","title":"Sakati Syndrome *","synonyms":["ACPS III","ACPS with Leg Hypoplasia","Acrocephalopolysyndactyly Type III","Sakati-Nyhan Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/sakati-syndrome\/"},{"id":"1688","title":"Sandhoff Disease *","synonyms":["GM2 gangliosidosis, type 2","hexosaminidases A and B deficiency","beta-hexosaminidase-beta-subunit deficiency","total hexosaminidase deficiency","Sandhoff-Jatzkewitz-Pilz disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/sandhoff-disease\/"},{"id":"1689","title":"Classic Infantile CLN1 Disease *","synonyms":["CLN1","INCL","Infantile Finnish type neuronal ceroid lipofuscinosis (Balkan disease)","Infantile NCL","Infantile neuronal ceroid lipofuscinosis","Santavuori-Haltia Disease","Santavuori disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/santavuori-disease\/"},{"id":"1691","title":"Schimke Immuno-Osseous Dysplasia *","synonyms":["immunoosseous dysplasia, Schimke type","SIOD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/schimke-immuno-osseous-dysplasia\/"},{"id":"1692","title":"Nevus Sebaceus Syndrome *","synonyms":["epidermal nevus syndrome","Schimmelpenning syndrome","Jadassohn sebaceous nevus syndrome","Schimmelpenning-Feuerstein-Mims syndrome","Solomon syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/schimmelpenning-syndrome\/"},{"id":"1693","title":"Schindler disease *","synonyms":["Alpha-N-Acetylgalactosaminidase deficiency","NAGA deficiency","neuroaxonal dystrophy, Schindler type"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/schindler-disease\/"},{"id":"1694","title":"Schinzel Giedion Syndrome *","synonyms":["Schinzel-Giedion midface-retraction syndrome","SGS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/schinzel-giedion-syndrome\/"},{"id":"1695","title":"Schinzel Syndrome *","synonyms":["Pallister ulnar-mammary syndrome","ulnar-mammary syndrome","UMS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/schinzel-syndrome\/"},{"id":"1696","title":"Schnitzler Syndrome *","synonyms":["Schnitzler's syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/schnitzler-syndrome\/"},{"id":"1697","title":"Schwartz Jampel Syndrome *","synonyms":["chondrodystrophic myotonia","myotonic myopathy, dwarfism, chondrodystrophy, ocular & facial anomalies","Schwartz-Jampel-Aberfeld syndrome","SJA syndrome","SJS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/schwartz-jampel-syndrome\/"},{"id":"1698","title":"Scleroderma *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/scleroderma\/"},{"id":"1699","title":"Mesenteric Panniculitis *","synonyms":["sclerosing mesenteritis","mesenteric lipodystrophy","retractile mesenteritis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/mesenteric-panniculitis\/"},{"id":"153058","title":"Paniculitis Mesent\u00e9rica *","synonyms":["Mesenteritis esclerosante ","Lipodistrofia mesent\u00e9rica ","Mesenteritis retr\u00e1ctil ","Mesenteritis asociada a IgG4 "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/mesenteric-panniculitis\/"},{"id":"1700","title":"Scott Craniodigital Syndrome *","synonyms":["Craniodigital Syndrome-Mental Retardation, Scott Type","Craniodigital Syndrome of Scott","Scott Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/scott-craniodigital-syndrome\/"},{"id":"1701","title":"Seckel Syndrome *","synonyms":["microcephalic primordial dwarfism","nanocephalic dwarfism","SCKL","Seckel type dwarfism","Seckel type primordial dwarfism"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/seckel-syndrome\/"},{"id":"1702","title":"Segawa Syndrome *","synonyms":["autosomal dominant dopa-responsive dystonia (DRD","autosomal dominant segawa syndrome","DYT5 dystonia","GTP cyclohydrolase 1-deficient dopa-responsive dystonia","guanosine triphosphate cyclohydrolase I deficiency","progressive dystonia with marked diurnal fluctuation","Segawa disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/segawa-syndrome\/"},{"id":"1703","title":"Sennetsu Fever *","synonyms":["Human Ehrlichial Infection","Human Ehrlichial Infection","Human Ehrlichial Infection, Sennetsu Type","Sennetsu Type"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/sennetsu-fever\/"},{"id":"1704","title":"Setleis Syndrome *","synonyms":["Bitemporal Forceps Marks Syndrome","Facial Ectodermal Dysplasia","FFDD Type II","Focal Facial Dermal Dysplasia Type II"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/setleis-syndrome\/"},{"id":"1705","title":"Severe Chronic Neutropenia *","synonyms":["SCN"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/severe-chronic-neutropenia\/"},{"id":"153069","title":"Neutropenia Cr\u00f3nica Severa *","synonyms":["NCS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/severe-chronic-neutropenia\/"},{"id":"1706","title":"Severe Combined Immunodeficiency *","synonyms":["bubble boy syndrome","SCID"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/severe-combined-immunodeficiency\/"},{"id":"1707","title":"Sheehan Syndrome *","synonyms":["postpartum hypopituitarism","postpartum panhypopituitarism","postpartum panhypopituitary syndrome","postpartum pituitary 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Syndrome *","synonyms":["Aarskog-Ose-Pande syndrome","lipodystrophy-Rieger anomaly-diabetes syndrome","Rieger anomaly-partial lipodystrophy syndrome","PIK3R1-associated syndromic insulin resistance with lipoatrophy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/short-syndrome\/"},{"id":"255717","title":"S\u00edndrome SHORT *","synonyms":["S\u00edndrome de Aarskog-Ose-Pande ","S\u00edndrome de lipodistrofia-anomal\u00eda de Rieger-diabetes ","S\u00edndrome de anomal\u00eda de Rieger-lipodistrofia parcial ","Resistencia a la insulina sindr\u00f3mica asociada a PIK3R1 con lipoatrofia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/short-syndrome\/"},{"id":"1711","title":"Shwachman Diamond Syndrome *","synonyms":["lipomatosis of pancreas, congenital","pancreatic insufficiency and bone marrow dysfunction","Shwachman-Bodian syndrome","Shwachman-Diamond-Oski syndrome","Shwachman syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/shwachman-diamond-syndrome\/"},{"id":"1712","title":"Sialadenitis *","synonyms":["Salivary Gland Infection"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/sialadenitis\/"},{"id":"1713","title":"Sialidosis *","synonyms":["alpha-neuraminidase deficiency","cherry red spot and myoclonus syndrome","glycoprotein neuraminidase, deficiency of","lipomucopolysaccharidosis type I","ML I","mucolopidosis type I","neuraminidase deficiency","sialidase deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/sialidosis\/"},{"id":"1714","title":"Sickle Cell Disease *","synonyms":["SCD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/sickle-cell-disease\/"},{"id":"258768","title":"Enfermedad de c\u00e9lulas falciformes *","synonyms":["ECF"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/sickle-cell-disease\/"},{"id":"1715","title":"Simian B Virus Infection *","synonyms":["Herpesvirus Simiae, B Virus","H Simiae Encephalomyelitis","Monkey B Virus"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/simian-b-virus-infection\/"},{"id":"1716","title":"Simple Pulmonary Eosinophilia *","synonyms":["Loeffler syndrome","L\u00f6ffler syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/simple-pulmonary-eosinophilia\/"},{"id":"271031","title":"Eosinofilia pulmonar simple *","synonyms":["S\u00edndrome de Loeffler"," S\u00edndrome de L\u00f6ffler"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/simple-pulmonary-eosinophilia\/"},{"id":"1717","title":"Simpson-Golabi-Behmel Syndrome *","synonyms":["Simpson dysmorphia syndrome","SGB 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*","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/smallpox\/"},{"id":"1724","title":"Smith-Lemli-Opitz Syndrome *","synonyms":["7-dehydrocholesterol reductase deficiency","DHCR7 abnormality","RSH syndrome","SLOS","SLO syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/smith-lemli-opitz-syndrome\/"},{"id":"256503","title":"S\u00edndrome de Smith-Lemli-Opitz *","synonyms":["Deficiencia de 7-deshidrocolesterol reductasa ","S\u00edndrome de RSH ","Anormalidad de DHCR7 ","SLOS","S\u00edndrome de SLO"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/smith-lemli-opitz-syndrome\/"},{"id":"1725","title":"Smith Magenis Syndrome *","synonyms":["chromosome 17, interstitial deletion 17p","Chromosome 17p11.2 deletion syndrome","SMCR","Smith-Magenis chromosome region","retinoic acid induced 1 gene (RAI1)","SMS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/smith-magenis-syndrome\/"},{"id":"1726","title":"Sneddon Syndrome *","synonyms":["livedo reticularis racemosa and cerebrovascular accidents","Sneddon's Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/sneddon-syndrome\/"},{"id":"1727","title":"Sotos Syndrome *","synonyms":["cerebral gigantism"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/sotos-syndrome\/"},{"id":"150551","title":"Sindrome de Sotos *","synonyms":["Gigantismo cerebral"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/sotos-syndrome\/"},{"id":"1728","title":"Spina Bifida *","synonyms":["Neural Tube Defect","SB"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/spina-bifida\/"},{"id":"1729","title":"Spinal Muscular Atrophy *","synonyms":["SMA","SMN-related SMA","classic SMA","chromosome 5 SMA"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/spinal-muscular-atrophy\/"},{"id":"143313","title":"Atrofia muscular espinal *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/atrofia-muscular-espinal\/"},{"id":"1730","title":"Spinocerebellar Ataxia with Axonal Neuropathy *","synonyms":["SCAN1"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/spinocerebellar-ataxia-with-axonal-neuropathy\/"},{"id":"1731","title":"Split Hand\/Split Foot Malformation *","synonyms":["SHFM","ectrodactyly"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/split-handsplit-foot-malformation\/"},{"id":"256601","title":"Malformaci\u00f3n de mano dividida\/pie dividido *","synonyms":["SHFM","Ectrodactilia ","Manos y pies hendidos"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/split-handsplit-foot-malformation\/"},{"id":"1732","title":"Spondyloepiphyseal Dysplasia Tarda *","synonyms":["SED tarda","X-linked spondyloepiphyseal dysplasia","SEDL","SEDT","TRAPPC2-related X-linked spondyloepiphyseal dysplasia tarda"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/spondyloepiphyseal-dysplasia-tarda\/"},{"id":"254106","title":"Displasia espondiloepifisaria tard\u00eda ligada al cromosoma X *","synonyms":["SED tarda ","Displasia espondiloepifisaria ligada al cromosoma X ","SEDL ","SEDT"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/spondyloepiphyseal-dysplasia-tarda\/"},{"id":"1733","title":"Spondyloepiphyseal Dysplasia, Congenital *","synonyms":["SEDC","SED, Congenital Type","Spondyloepiphyseal Dysplasia, Congenital 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r\u00edgida"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/stiff-person-syndrome\/"},{"id":"1741","title":"Sturge Weber Syndrome *","synonyms":["Dimitri disease","encephalofacial angiomatosis","encephalotrigeminal angiomatosis","leptomeningeal angiomatosis","Sturge-Kalischer-Weber syndrome","Sturge-Weber-Krabbe syndrome","Sturge-Weber phakomatosis","SWS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/sturge-weber-syndrome\/"},{"id":"1742","title":"Stuve-Wiedemann Syndrome *","synonyms":["STWS","Schwartz-Jampel syndrome type 2","SJS2","Schwartz-Jampel syndrome neonatal","Stuve-Wiedemann\/Schwartz-Jampel type 2 syndrome","Neonatal Schwartz-Jampel syndrome type 2"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/stuve-wiedemann-syndrome\/"},{"id":"253938","title":"S\u00edndrome de Stuve-Wiedemann *","synonyms":["STWS","S\u00edndrome de Schwartz-Jampel tipo 2 SJS2 ","SJS2","S\u00edndrome de Schwartz-Jampel neonatal","S\u00edndrome de Stuve-Wiedemann\/Schwartz-Jampel tipo 2 ","S\u00edndrome neonatal de Schwartz-Jampel tipo 2"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/stuve-wiedemann-syndrome\/"},{"id":"1743","title":"Subacute Sclerosing Panencephalitis *","synonyms":["Dawson's Disease","Dawson's Encephalitis","Panencephalitis, Subacute Sclerosing","SSPE"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/subacute-sclerosing-panencephalitis\/"},{"id":"1744","title":"Sudden Infant Death Syndrome *","synonyms":["cot death","crib death","SIDS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/sudden-infant-death-syndrome\/"},{"id":"1745","title":"Sudden Unexplained Death in Childhood *","synonyms":["SUDC","SUDIC"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/sudden-unexplained-death-in-childhood\/"},{"id":"1747","title":"Susac Syndrome *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/susacs-syndrome\/"},{"id":"153127","title":"S\u00edndrome de Susac *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/susacs-syndrome\/"},{"id":"1748","title":"Sutton Disease II *","synonyms":["Aphthous Stomatitis, Recurrent","Aphthous Ulcer, Recurrent","Major Aphthous Ulcer","Major Canker Sore","Major Ulcerative Stomatitis","Periadenitis Mucosa Necrotica, Recurrent Type II","RAU","Recurrent Scarring Aphthae","von Mikulicz's Aphthae","Von Zahorsky's Disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/sutton-disease-ii\/"},{"id":"1749","title":"Sweet Syndrome *","synonyms":["Acute Febrile Neutrophilic Dermatosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/sweet-syndrome\/"},{"id":"1750","title":"Swyer syndrome *","synonyms":["46, XY CGD","46, XY complete gonadal dysgenesis","46, XY pure gonadal dysgenesis","gonadal dysgenesis, XY female type"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/swyer-syndrome\/"},{"id":"1751","title":"Sydenham Chorea *","synonyms":["rheumatic chorea","St. Vitus dance"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/sydenham-chorea\/"},{"id":"1752","title":"Syphilis, Acquired *","synonyms":["Lues, Acquired","Venereal Disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/syphilis-acquired\/"},{"id":"1753","title":"Congenital Syphilis *","synonyms":["Lues, 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type","analphalipoproteinemia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/tangier-disease\/"},{"id":"1758","title":"Tardive Dyskinesia *","synonyms":["linguofacial dyskinesia","oral-facial dyskinesia","tardive dystonia","tardive oral dyskinesia","TD","tardive stereotypy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/tardive-dyskinesia\/"},{"id":"1759","title":"Tarlov Cysts *","synonyms":["perineural cysts","sacral, lumbar, thoracic or cervical nerve root cysts"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/tarlov-cysts\/"},{"id":"1760","title":"Tarsal Tunnel Syndrome *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/tarsal-tunnel-syndrome\/"},{"id":"1761","title":"Tay Sachs Disease *","synonyms":["HEXA deficiency","hexosaminidase A deficiency","TSD","GM2 gangliosidosis, type 1","hexoaminidase alpha-subunit deficiency (variant B)","B variant GM2 gangliosidosis","sphingolipidosis, Tay-Sachs"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/tay-sachs-disease\/"},{"id":"255862","title":"Enfermedad de Tay Sachs *","synonyms":["Deficiencia de HEXA ","Deficiencia de hexosaminidasa A","TSD","Gangliosidosis GM2, tipo 1","Deficiencia de la subunidad alfa de hexoaminidasa (variante B)","Gangliosidosis GM2 variante B ","Esfingolipidosis, Tay-Sachs","Gangliosidosis-GM2, variante B, B1","Enfermedad de Tay-Sachs"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/tay-sachs-disease\/"},{"id":"1762","title":"Tethered Cord Syndrome *","synonyms":["TCS","tethered spinal cord syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/tethered-cord-syndrome\/"},{"id":"1763","title":"Tetrahydrobiopterin Deficiency *","synonyms":["BH4-deficient hyperphenylalaninemia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/tetrahydrobiopterin-deficiency\/"},{"id":"253785","title":"Deficiencia de tetrahidrobiopterina *","synonyms":["Hiperfenilalaninemia por deficiencia de BH4"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/tetrahydrobiopterin-deficiency\/"},{"id":"1764","title":"Tetralogy of Fallot *","synonyms":["Fallot's Tetralogy","pulmonic stenosis-ventricular septal defect"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/tetralogy-of-fallot\/"},{"id":"1765","title":"Beta Thalassemia *","synonyms":["Mediterranean anemia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/thalassemia-major\/"},{"id":"1766","title":"Thoracic Outlet Syndrome *","synonyms":["TOS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/thoracic-outlet-syndrome\/"},{"id":"1767","title":"Three M Syndrome *","synonyms":["3M3","3 M syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/three-m-syndrome\/"},{"id":"1768","title":"Thrombocytopenia Absent Radius Syndrome *","synonyms":["radial aplasia-amegakaryocytic thrombocytopenia","radial aplasia-thrombocytopenia syndrome","TAR syndrome","thrombocytopenia-absent radii syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/thrombocytopenia-absent-radius-syndrome\/"},{"id":"1769","title":"Thrombotic Thrombocytopenic Purpura *","synonyms":["microangiopathic hemolytic anemia","Moschowitz Disease","TTP"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/thrombotic-thrombocytopenic-purpura\/"},{"id":"1770","title":"Thyroid Cancer *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/thyroid-cancer\/"},{"id":"1771","title":"Tietze Syndrome *","synonyms":["Chondropathia Tuberosa","Costochondral Junction Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/tietze-syndrome\/"},{"id":"1772","title":"Timothy Syndrome *","synonyms":["long QT syndrome type 8 (LQT8)","TS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/timothy-syndrome\/"},{"id":"1773","title":"Tinnitus *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/tinnitus\/"},{"id":"1774","title":"Tolosa Hunt Syndrome *","synonyms":["ophthalmoplegia, painful","ophthalmoplegia, recurrent","ophthalmoplegia syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/tolosa-hunt-syndrome\/"},{"id":"1775","title":"Tongue Cancer *","synonyms":["Cancer of the Tongue","Carcinoma of the Tongue","Tongue, Carcinoma"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/tongue-cancer\/"},{"id":"1776","title":"Tongue, Hairy *","synonyms":["Black Hairy Tongue","Black Tongue","Lingua Nigra","Lingua Villosa Nigra"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/tongue-hairy\/"},{"id":"1777","title":"Tooth and Nail Syndrome *","synonyms":["Witkop syndrome","ectodermal dysplasia 3, Wiktop type","ectodermal dysplasia 3, tooth\/nail type","dysplasia of nails With hypodontia","nail dysgenesis and hypodontia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/tooth-and-nail-syndrome\/"},{"id":"271226","title":"S\u00edndrome de dientes y u\u00f1as *","synonyms":["S\u00edndrome de Witkop ","S\u00edndrome de hipodoncia-displasia ungueal ","Displasia ectod\u00e9rmica 3, tipo Wiktop ","Displasia ectod\u00e9rmica 3, tipo diente\/ u\u00f1a ","Disg\u00e9nesis de u\u00f1as y hipodoncia","Displasia de u\u00f1as con hipodoncia ","S\u00edndrome de hipodoncia-displasia ungueal"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/tooth-and-nail-syndrome\/"},{"id":"1778","title":"TORCH Syndrome *","synonyms":["Cytomegalovirus","Herpes Simplex","Rubella","Torch Infection","Torch Infection","Toxoplasmosis","Toxoplasmosis, Other Agents, Rubella, Cytomegalovirus, Herpes Simplex"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/torch-syndrome\/"},{"id":"1780","title":"Townes-Brocks Syndrome *","synonyms":["deafness, sensorineural, with imperforate anus and hypoplastic thumbs","imperforate anus with hand, foot and ear anomalies","Townes syndrome","TBS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/townes-brocks-syndrome\/"},{"id":"1781","title":"Staphylococcal Scalded Skin Syndrome *","synonyms":["Ritter Disease","scalded skin syndrome","Ritter von Ritterschein disease","SSSS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/staphylococcal-scalded-skin-syndrome\/"},{"id":"153044","title":"S\u00edndrome de la piel escaldada por estafilococos *","synonyms":["Enfermedad exfoliativa generalizada ","Enfermedad de Ritter","Enfermedad de Ritter von Ritterschein disease","SSSS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/staphylococcal-scalded-skin-syndrome\/"},{"id":"1782","title":"Toxic Shock Syndrome *","synonyms":["TSS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/toxic-shock-syndrome\/"},{"id":"1784","title":"Transverse Myelitis *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/transverse-myelitis\/"},{"id":"1785","title":"Treacher Collins Syndrome *","synonyms":["Franceschetti-Zwalen-Klein syndrome","mandibulofacial dysostosis","TCS","Treacher Collins-Franceschetti syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/treacher-collins-syndrome\/"},{"id":"270868","title":"S\u00edndrome de Treacher Collins *","synonyms":["S\u00edndrome de Franceschetti-Zwalen-Klein","Disostosis mandibulofacial","TCS","S\u00edndrome de Treacher Collins-Franceschetti"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/treacher-collins-syndrome\/"},{"id":"1786","title":"Tricho Dento Osseous Syndrome *","synonyms":["TDO Syndrome","enamel hypoplasia and hypomineralization with associated strikingly curly hair"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/tricho-dento-osseous-syndrome\/"},{"id":"260388","title":"S\u00edndrome trico-dento-\u00f3seo *","synonyms":["TDO ","Hipoplasia del esmalte e hipomineralizaci\u00f3n asociado con cabello sorprendentemente rizado ","Displasia trico-dento-\u00f3sea","S\u00edndrome tricodento\u00f3seo "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/tricho-dento-osseous-syndrome\/"},{"id":"1787","title":"Trichorhinophalangeal Syndrome Type I *","synonyms":["TRPS1","TRP syndrome","trichorhinophalangeal dysplasia type I","TRPS I","trichorhinophalangeal dysplasia types 1\/3"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/trichorhinophalangeal-syndrome-type-i\/"},{"id":"273210","title":"S\u00edndrome trico-rino-fal\u00e1ngico tipo 1 *","synonyms":["TRPS1","S\u00edndrome tricorinofal\u00e1ngico tipo 1 ","Displasia tricorrinofal\u00e1ngica tipo I ","S\u00edndrome TRP 1 ","TRPS I ","S\u00edndrome tricorinofal\u00e1ngico tipo 1\/3 ","S\u00edndrome trico-rino-fal\u00e1ngico tipo 1\/3","Displasia tricorrinofal\u00e1ngica tipos\u00a0 1 \/ 3"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/trichorhinophalangeal-syndrome-type-i\/"},{"id":"1788","title":"Trichorhinophalangeal 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triploid\u00eda"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/triploidy\/"},{"id":"1795","title":"Trismus-Pseudocamptodactyly Syndrome *","synonyms":["TPS","camptodactyly-limited jaw excursion","Dutch-Kennedy syndrome","Hecht syndrome","distal arthrogryposis type 7"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/trismus-pseudocamptodactyly-syndrome\/"},{"id":"273229","title":"S\u00edndrome de Trismo-Pseudocamptodactilia *","synonyms":["TPS","Artrogriposis distal tipo 7 TPS","S\u00edndrome de Dutch-Kentucky ","S\u00edndrome de Hecht ","S\u00edndrome de Hecht-Beals"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/trismus-pseudocamptodactyly-syndrome\/"},{"id":"1796","title":"Trisomy 13 Syndrome *","synonyms":["Chromosome 13, Trisomy 13 Complete","Complete Trisomy 13 Syndrome","D Trisomy Syndrome","Patau 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Diarrhea"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/tropical-sprue\/"},{"id":"1800","title":"Truncus Arteriosus *","synonyms":["Buchanan's Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/truncus-arteriosus\/"},{"id":"271092","title":"Truncus Arteriosus *","synonyms":["Buchanan's Syndrome","TAC ","Tronco a\u00f3rtico-pulmonar com\u00fan ","Tronco arterioso com\u00fan"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/truncus-arteriosus\/"},{"id":"1801","title":"Tuberculosis *","synonyms":["Consumption","TB"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/tuberculosis\/"},{"id":"274076","title":"Tuberculosis *","synonyms":["Tisis","TB"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/tuberculosis\/"},{"id":"1802","title":"Tuberous Sclerosis *","synonyms":["Bourneville Pringle 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syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/turcot-syndrome\/"},{"id":"1806","title":"Turner Syndrome *","synonyms":["45,X syndrome","Bonnevie-Ullrich syndrome","monosomy X","Ullrich-Turner syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/turner-syndrome\/"},{"id":"153020","title":"S\u00edndrome de Turner *","synonyms":["S\u00edndrome 45,X ","S\u00edndrome de Bonnevie-Ullrich ","Monosom\u00eda X ","S\u00edndrome de Ullrich-Turner","S\u00edndrome 45,X\/46,XX"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/turner-syndrome\/"},{"id":"1807","title":"Twin-Twin Transfusion Syndrome *","synonyms":["fetal transfusion syndrome","fetofetal transfusion syndrome","TTTS","Twin-to-Twin transfusion syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/twin-twin-transfusion-syndrome\/"},{"id":"1808","title":"Typhoid *","synonyms":["Enteric Fever","Salmonella Typhi Infection","Typhoid Fever"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/typhoid\/"},{"id":"1809","title":"STEC Hemolytic Uremic Syndrome *","synonyms":["classic hemolytic uremic syndrome","diarrhea-associated (D+) hemolytic uremic syndrome","shigatoxin-associated hemolytic uremic syndrome","Stx HUS [STEC HUS]","STEC HUS","typical HUS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/stec-hemolytic-uremic-syndrome\/"},{"id":"1810","title":"Tyrosine Hydroxylase Deficiency *","synonyms":["autosomal recessive dopa-responsive dystonia","autosomal recessive infantile Parkinsonism","autosomal recessive Segawa syndrome","TH deficiency","tyrosine hydroxylase-deficient dopa-responsive dystonia (TH-DRD)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/tyrosine-hydroxylase-deficiency\/"},{"id":"1811","title":"Tyrosinemia Type 1 *","synonyms":["FAH deficiency","fumarylacetoacetase deficiency","fumarylacetoacetate hydrolase deficiency","hepatorenal tyrosinemia","hereditary tyrosinemia type 1"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/tyrosinemia-type-1\/"},{"id":"1812","title":"Ulcerative Colitis *","synonyms":["Chronic Non-Specific Ulcerative Colitis","Colitis Gravis","Idiopathic Non-Specific Ulcerative Colitis","Inflammatory Bowel Disease (IBD), Ulcerative Colitis Type","Proctocolitis, Idiopathic"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ulcerative-colitis\/"},{"id":"1813","title":"Urticaria, Cold *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/urticaria-cold\/"},{"id":"1814","title":"Urticaria, Papular *","synonyms":["Angioedema and Urticaria","Giant Urticaria","Hives, Giant","Lichen Urticatus","Quincke 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hidrocefalia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/vacterl-with-hydrocephalus\/"},{"id":"1820","title":"Valinemia *","synonyms":["Hypervalinemia","Valine Transaminase Deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/valinemia\/"},{"id":"1821","title":"Variegate Porphyria *","synonyms":["porphyria variegata","VP"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/variegate-porphyria\/"},{"id":"273351","title":"Porfiria Variegata *","synonyms":["Porfiria variegata","VP"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/variegate-porphyria\/"},{"id":"1822","title":"Vascular Malformations of the Brain *","synonyms":["Cerebral Malformations, Vascular","Intracranial Vascular Malformations","Occult Intracranial Vascular 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ophthalmia","VKC"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/vernal-keratonconjunctivitis\/"},{"id":"1827","title":"Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD) *","synonyms":["ACADL","nonketotic hypoglycemia caused by deficiency of acyl-CoA dehydrogenase","VLCAD","long chain fatty acid oxidation disorder"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/very-long-chain-acyl-coa-dehydrogenase-deficiency-lcad\/"},{"id":"259793","title":"Deficiencia de acil-CoA deshidrogenasa de cadena muy larga (LCAD) *","synonyms":["Hipoglucemia no cet\u00f3sica causada por deficiencia de acil-CoA deshidrogenasa","ACADL ","VLCADD","VLCAD","Trastorno de oxidaci\u00f3n de \u00e1cidos grasos de cadena larga"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/very-long-chain-acyl-coa-dehydrogenase-deficiency-lcad\/"},{"id":"1829","title":"Vogt-Koyanagi-Harada Disease *","synonyms":["alopecia-poliosis-uveitis-vitiligo-deafness-cutaneous-uveo-oto syndrome","Harada syndrome","uveomeningitis syndrome","VKH syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/vogt-koyanagi-harada-disease\/"},{"id":"1830","title":"Von Hippel-Lindau Disease *","synonyms":["VHL","VHL syndrome","VHL disease","von Hippel-Lindau syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/von-hippel-lindau-disease\/"},{"id":"1832","title":"Waardenburg Syndrome *","synonyms":["WS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/waardenburg-syndrome\/"},{"id":"1833","title":"WAGR Syndrome\/11p Deletion Syndrome *","synonyms":["chromosome 11p deletion syndrome","WAGR complex"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/wagr-syndrome11p-deletion-syndrome\/"},{"id":"1834","title":"Waldenstr\u00f6m Macroglobulinemia *","synonyms":["macroglobulinemia","Waldenstrom's syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/waldenstroms-macroglobulinemia\/"},{"id":"255828","title":"Macroglobulinemia de Waldenstr\u00f6m *","synonyms":["Macroglobulinemia","S\u00edndrome de Waldenstrom ","Macroglobulinemia de Waldenstrom"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/waldenstroms-macroglobulinemia\/"},{"id":"1835","title":"Walker Warburg Syndrome *","synonyms":["muscular dystrophy-dystroglycanopathy [with brain and eye anomalies], type A (MDDGA)","cerebroocular dysplasia-muscular dystrophy syndrome (COD-MD syndrome)","hydrocephalus, agyria, and retinal dysplasia (HARD syndrome)","hydrocephalus, agyria, retinal dysplasia, and encephalocele (HARDE syndrome)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/walker-warburg-syndrome\/"},{"id":"142824","title":"S\u00edndrome de Walker Warburg *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/sindrome-de-walker-warburg\/"},{"id":"1836","title":"Wandering Spleen *","synonyms":["displaced spleen","drifting spleen","floating spleen","pelvic spleen","splenic ptosis","splenoptosis","systopic spleen","WS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/wandering-spleen\/"},{"id":"273264","title":"Bazo Errante *","synonyms":["Bazo flotante","S\u00edndrome de bazo errante ","Bazo ect\u00f3pico"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/wandering-spleen\/"},{"id":"1837","title":"Warm Autoimmune Hemolytic Anemia *","synonyms":["Warm AIHA","wAIHA","warm antibody autoimmune hemolytic anemia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/warm-autoimmune-hemolytic-anemia\/"},{"id":"271469","title":"Anemia autoinmune hemol\u00edtica tipo caliente 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myopathy","XLMTM"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/x-linked-myotubular-myopathy\/"},{"id":"1868","title":"X-linked Opitz G\/BBB Syndrome *","synonyms":["hypertelorism-hypospadius syndrome (obsolete)","Opitz BBBG syndrome","Opitz-G syndrome","telecanthus-hypospadius syndrome (obsolete)","XLOS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/x-linked-opitz-gbbb-syndrome\/"},{"id":"255502","title":"S\u00edndrome de Opitz G\/BBB ligado al cromosoma X *","synonyms":["S\u00edndrome de Opitz G BBB","S\u00edndrome de Opitz BBB\/G ","S\u00edndrome de Opitz BBBG","S\u00edndrome de Opitz-Frias","S\u00edndrome de hipertelorismo-anomal\u00edas esof\u00e1gicas-hipospadias","S\u00edndrome de hipertelorismo-hipospadias"," S\u00edndrome de hipospadias-disfagia ","S\u00edndrome de Opitz G BBB ligado al cromosoma X"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/x-linked-opitz-gbbb-syndrome\/"},{"id":"1869","title":"X-Linked Protoporphyria *","synonyms":["XLDPP","X-linked dominant protoporphyria","XLP"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/x-linked-protoporphyria\/"},{"id":"1870","title":"Xeroderma Pigmentosum *","synonyms":["XP","xeroderma pigmentosa"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/xeroderma-pigmentosum\/"},{"id":"1871","title":"XYY Syndrome *","synonyms":["47, XYY syndrome","Jacob's syndrome","XYY karyotype","YY syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/xyy-syndrome\/"},{"id":"1872","title":"Yaws *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/yaws\/"},{"id":"274135","title":"Pian *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/yaws\/"},{"id":"1873","title":"Yellow Fever *","synonyms":["Bunyavirus Infection"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/yellow-fever\/"},{"id":"1874","title":"Yellow Nail syndrome *","synonyms":["lymphedema with yellow nails","YNS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/yellow-nail-syndrome\/"},{"id":"142312","title":"S\u00edndrome de las u\u00f1as amarillas *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/sindrome-de-las-unas-amarillas\/"},{"id":"1875","title":"Yunis Varon Syndrome *","synonyms":["cleidocranial dysplasia with micrognathia","absent thumbs","distal aphalangia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/yunis-varon-syndrome\/"},{"id":"1876","title":"Zellweger Spectrum Disorders *","synonyms":["peroxisomal biogenesis disorders","Zellweger syndrome spectrum (ZSS)","ZSD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/zellweger-spectrum-disorders\/"},{"id":"1877","title":"Zollinger-Ellison Syndrome *","synonyms":["gastrinoma","pancreatic ulcerogenic tumor syndrome","ZES","Z-E syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/zollinger-ellison-syndrome\/"},{"id":"1879","title":"ATR-16 Syndrome *","synonyms":["alpha-thalassemia-intellectual disability syndrome, chromosome 16-related","alpha-thalassemia-intellectual disability syndrome, deletion type","alpha thalassemia-intellectual disability syndrome type 1","alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16)","alpha thalassemia-intellectual disability syndrome","alpha-thalassemia-intellectual disability syndrome linked to chromosome 16","ATR syndrome linked to chromosome 16","ATR syndrome, deletion type","chromosome 16P deletion syndrome","haemoglobin H-related intellectual disability"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/atr-16-syndrome\/"},{"id":"273342","title":"S\u00edndrome ATR-16 *","synonyms":["S\u00edndrome de discapacidad intelectual y talasemia alfa relacionada con el cromosoma 16 ","S\u00edndrome de discapacidad intelectual y talasemia alfa, tipo deleci\u00f3n ","S\u00edndrome de discapacidad intelectual y talasemia alfa tipo 1 ","S\u00edndrome de d\u00e9ficit intelectual y talasemia alfa relacionado con el cromosoma 16 (ATR-16) ","S\u00edndrome ATR-16 ","S\u00edndrome de deleci\u00f3n del cromosoma 16P ","S\u00edndrome de discapacidad intelectual relacionada con hemoglobina H"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/atr-16-syndrome\/"},{"id":"1878","title":"Necrotizing Enterocolitis *","synonyms":["NEC"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/necrotizing-enterocolitis\/"},{"id":"1880","title":"SYNGAP1-related NSID *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/syngap1-related-nsid\/"},{"id":"144481","title":"Encefalopat\u00eda epil\u00e9ptica y del desarrollo asociada al gen SYNGAP1 *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/encefalopatia-epileptica-y-del-desarrollo-asociada-al-gen-syngap1\/"},{"id":"1881","title":"Recessive Multiple Epiphyseal Dysplasia *","synonyms":["EDM4","MED4","Multiple Epiphyseal Dysplasia Type 4","Multiple Epiphyseal Dysplasia with Clubfoot","rMED"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/recessive-multiple-epiphyseal-dysplasia\/"},{"id":"1882","title":"Myocarditis *","synonyms":["Inflammatory cardiomyopathy","Idiopathic myocarditis","Viral cardiomyopathy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/myocarditis\/"},{"id":"1883","title":"Andersen-Tawil Syndrome *","synonyms":["Andersen syndrome","ATS","long QT syndrome 7","LQTS7"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/andersen-tawil-syndrome\/"},{"id":"1884","title":"Gitelman Syndrome *","synonyms":["familial hypokalemia-hypomagnesemia","hypomagnesemia-hypokalemia with hypocalciuria"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/gitelman-syndrome\/"},{"id":"273723","title":"S\u00edndrome de Gitelman *","synonyms":["hipocalemia-hipomagnesemia familiar"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/gitelman-syndrome\/"},{"id":"1885","title":"Sepiapterin Reductase Deficiency *","synonyms":["Dopa-responsive dystonia due to sepiapterin reductase deficiency","SRD","SPR Deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/sepiapterin-reductase-deficiency\/"},{"id":"1886","title":"Idiopathic Subglottic Stenosis *","synonyms":["idiopathic subglottic and tracheal stenosis","iSGS","ISS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/idiopathic-subglottic-stenosis\/"},{"id":"1887","title":"Nontuberculous Mycobacterial Lung Disease *","synonyms":["mycobacteria other than tuberculosis (MOTT)","nontuberculous mycobacterial disease","nontuberculosis mycobacterium","NTM"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/nontuberculous-mycobacterial-lung-disease\/"},{"id":"273320","title":"Enfermedad Pulmonar por Micobacterias No Tuberculosas (NTM) *","synonyms":["Micobacterias no tuberculosas (MNT)","Infecci\u00f3n pulmonar por micobacterias no tuberculosas","Enfermedad micobacteriana no tuberculosa ","Micobacteria no tuberculosa","MNT"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/nontuberculous-mycobacterial-lung-disease\/"},{"id":"1888","title":"Hallermann-Streiff Syndrome *","synonyms":["Francois dyscephaly syndrome","Hallermann-Streiff-Francois syndrome","HSS","oculomandibulodyscephaly with hypotrichosis","oculomandibulofacial syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hallermann-streiff-syndrome\/"},{"id":"1890","title":"Snyder-Robinson Syndrome *","synonyms":["spermine synthase deficiency syndrome","SRS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/snyder-robinson-syndrome\/"},{"id":"273361","title":"S\u00edndrome de Snyder-Robinson *","synonyms":["S\u00edndrome de deficiencia de spermina sintasa ","Desorden sindr\u00f3mico de discapacidad intelectual y del desarrollo tipo Snyder-Robinson","Discapacidad intelectual ligada al cromosoma X tipo Snyder ","SRS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/snyder-robinson-syndrome\/"},{"id":"1891","title":"Superior Semicircular Canal Dehiscence *","synonyms":["superior semicircular canal dehiscence syndrome (SCDS)","canal dehiscence syndrome","superior canal syndrome","third mobile window syndrome","Minor\u2019s syndrome","SSCD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/superior-semicircular-canal-dehiscence\/"},{"id":"234266","title":"S\u00edndrome de dehiscencia del canal semicircular *","synonyms":["S\u00edndrome de dehiscencia del canal semicircular superior (SDCS) ","S\u00edndrome de dehiscencia del canal ","S\u00edndrome del canal superior ","S\u00edndrome de la tercera ventana m\u00f3vil ","S\u00edndrome DCS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/superior-semicircular-canal-dehiscence\/"},{"id":"1892","title":"KCNQ2 Developmental and Epileptic Encephalopathy *","synonyms":["KCNQ2E","KCNQ2-related neonatal developmental and epileptic encephalopathy (KCNQ2-NEO-DEE)","early infantile epileptic encephalopathy (EIEE7)","KCNQ2-DEE"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/kcnq2-encephalopathy\/"},{"id":"1893","title":"Congenital Myasthenic Syndromes *","synonyms":["CMS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/congenital-myasthenic-syndromes\/"},{"id":"1894","title":"Acid Sphingomyelinase Deficiency *","synonyms":["ASMD","ASM Deficiency","Acid Sphingomyelinase-deficient Niemann-Pick Disease","ASM-deficient Niemann-Pick Disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/acid-sphingomyelinase-deficiency\/"},{"id":"1895","title":"Leishmaniasis *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/leishmaniasis\/"},{"id":"197907","title":"Leishmaniasis *","synonyms":["Leishmaniosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/leishmaniasis\/"},{"id":"1896","title":"KCNK9 Imprinting Syndrome *","synonyms":["Birk-Barel syndrome","Birk-Barel intellectual disability dysmorphism syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/kcnk9-imprinting-syndrome\/"},{"id":"1897","title":"Autoimmune Hepatitis *","synonyms":["AIH","autoimmune chronic active hepatitis","lupoid hepatitis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/autoimmune-hepatitis\/"},{"id":"1898","title":"Warburg Micro Syndrome *","synonyms":["micro syndrome","WARBM type 1-4"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/warburg-micro-syndrome\/"},{"id":"256395","title":"Micros\u00edndrome de Warburg *","synonyms":["Sindrome Micro ","Micros\u00edndrome ","WARBM tipo 1-4"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/warburg-micro-syndrome\/"},{"id":"1899","title":"Protein C Deficiency *","synonyms":["Hereditary thrombophilia due to protein C deficiency","PROC deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/protein-c-deficiency\/"},{"id":"1901","title":"Spontaneous Intracranial Hypotension *","synonyms":["spontaneous spinal cerebrospinal fluid leak"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/spontaneous-intracranial-hypotension\/"},{"id":"270870","title":"Hipotensi\u00f3n Intracraneal Espont\u00e1nea *","synonyms":["P\u00e9rdida espont\u00e1nea de l\u00edquido cefalorraqu\u00eddeo"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/spontaneous-intracranial-hypotension\/"},{"id":"1902","title":"Alpha Thalassemia *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/alpha-thalassemia\/"},{"id":"1903","title":"Hereditary Sensory and Autonomic Neuropathy Type 1E *","synonyms":["hereditary sensory autonomic neuropathy with dementia and hearing loss","neuropathy, hereditary sensory, with hearing loss and dementia","HSAN1E","DNMT1 complex disorder"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hereditary-sensory-autonomic-neuropathy-type-1e\/"},{"id":"1904","title":"Succinic Semialdehyde Dehydrogenase Deficiency *","synonyms":["4-hydroxybutyric aciduria","SSADH deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/succinic-semialdehyde-dehydrogenase-deficiency-2\/"},{"id":"273703","title":"Deficiencia de semialdeh\u00eddo succ\u00ednico deshidrogenasa *","synonyms":["Deficiencia de Succinato Semialdeh\u00eddo Deshidrogenasa (SSADH) ","Aciduria 4-hidroxibut\u00edrica ","Aciduria gamma-hidroxibut\u00edrica ","Deficiencia de SSADH"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/succinic-semialdehyde-dehydrogenase-deficiency-2\/"},{"id":"1905","title":"Acute Myeloid Leukemia *","synonyms":["acute granulocytic leukemia","acute myelogenous leukemia","acute myelogenous leukemia","acute nonlymphocytic leukemia","AML"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/acute-myeloid-leukemia\/"},{"id":"1906","title":"CARD9 Deficiency *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/card9-deficiency\/"},{"id":"255369","title":"Predisposici\u00f3n a una enfermedad f\u00fangica invasora por deficiencia de CARD9 *","synonyms":["S\u00edndrome de candidiasis invasiva-dermatofitosis profunda"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/card9-deficiency\/"},{"id":"1907","title":"Hepatocellular Carcinoma *","synonyms":["HCC","malignant hepatoma"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hepatocellular-carcinoma\/"},{"id":"1908","title":"Shprintzen Goldberg Syndrome *","synonyms":["SGS","Marfanoid-craniosynostosis syndrome","Shprintzen-Goldberg craniosynostosis syndrome","craniosynostosis with arachnodactyly and abdominal hernias ","marfanoid disorder with craniosynostosis type 1","Shprintzen-Goldberg marfanoid syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/shprintzen-goldberg-syndrome\/"},{"id":"255118","title":"S\u00edndrome de Shprintzen-Goldberg *","synonyms":["SGS","S\u00edndrome marfanoide-craneosinostosis ","S\u00edndrome de craneosinostosis de Shprintzen-Goldberg"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/shprintzen-goldberg-syndrome\/"},{"id":"1909","title":"Bosma Arhinia Microphthalmia Syndrome *","synonyms":["Gifford-Bosma 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leucoencefalopat\u00eda cerebral ","Vasculopat\u00eda TREX1 "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/vasculopatia-retiniana-con-leucoencefalopatia-cerebral-y-manifestaciones-sistemicas\/"},{"id":"1911","title":"Sitosterolemia *","synonyms":["phytosterolemia","beta-sitosterolemia","plant sterol storage disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/sitosterolemia\/"},{"id":"255913","title":"Sitosterolemia *","synonyms":["Fitosterolemia ","Beta-sitosterolemia ","Enfermedad por almacenamiento de esteroles vegetales"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/sitosterolemia\/"},{"id":"1912","title":"RYR1-Related Diseases *","synonyms":["RYR1 myopathy","RYR1 muscle disease","RYR1-related disorders"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ryr-1-related-diseases\/"},{"id":"1913","title":"Li-Fraumeni Syndrome *","synonyms":["LFS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/li-fraumeni-syndrome\/"},{"id":"254385","title":"S\u00edndrome de Li-Fraumeni *","synonyms":["SLF"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/li-fraumeni-syndrome\/"},{"id":"1914","title":"SLC13A5 Citrate Transporter Disorder *","synonyms":["SLC13A5 epileptic encephalopathy","SLC13A5 deficiency","Kohlsch\u00fctter-T\u00f6nz syndrome (non-ROGDI)","developmental and epileptic encephalopathy 25, with amelogenesis imperfecta","early infantile epileptic encephalopathy 25, with amelogenesis imperfecta (EIEE25)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/slc13a5-epileptic-encephalopathy\/"},{"id":"255973","title":"Trastorno del transportador de citrato SLC13A5 *","synonyms":["Encefalopat\u00eda epil\u00e9ptica SLC13A5 ","Epilepsia por deficiencia de SLC13A5","encefalopat\u00eda epil\u00e9ptica infantil temprana 25 con amelog\u00e9nesis imperfecta","Encefalopat\u00eda epil\u00e9ptica del desarrollo 25 con amelog\u00e9nesis imperfecta (DEE25)","S\u00edndrome de Kohlsch\u00fctter-T\u00f6nz "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/slc13a5-epileptic-encephalopathy\/"},{"id":"1915","title":"Spondylothoracic Dysplasia *","synonyms":["Lavy-Moseley syndrome","STD","spondylothoracic dysostosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/spondylothoracic-dysostosis\/"},{"id":"1916","title":"Tenosynovial Giant Cell Tumor *","synonyms":["giant cell tumor of the tendon sheath (GCTTS)","nodular tenosynovitis","diffuse-type giant cell","pigmented vilonodular synovitis (PVNS)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/tenosynovial-giant-cell-tumor\/"},{"id":"255998","title":"Tumor tenosinovial de c\u00e9lulas gigantes *","synonyms":["Tumor de c\u00e9lulas gigantes de la vaina del tend\u00f3n (GCTTS) ","C\u00e9lula gigante de tipo difuso","Tenosinovitis nodular ","Sinovitis vilonodular pigmentada (PVNS)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/tenosynovial-giant-cell-tumor\/"},{"id":"1917","title":"USP7-Related Diseases *","synonyms":["chromosome 16p13.2 deletion syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/usp7-related-diseases\/"},{"id":"1918","title":"Hepatopulmonary Syndrome *","synonyms":["HPS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hepatopulmonary-syndrome\/"},{"id":"1919","title":"NGLY1 Deficiency *","synonyms":["NGLY1-related congenital disorder of deglycosylation","NGLY1-CDDG","NGLY1-related disorder"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ngly1-deficiency\/"},{"id":"256047","title":"Deficiencia de NGLY1 *","synonyms":["Trastorno cong\u00e9nito de desglicosilaci\u00f3n relacionado con NGLY1 T","NGLY1-CDDG","S\u00edndrome de alacrimia-coreoatetosis-disfunci\u00f3n hep\u00e1tica ","Trastorno relacionado con NGLY1 Desorden cong\u00e9nito de la glicosilaci\u00f3n 1"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/ngly1-deficiency\/"},{"id":"1920","title":"Fatal Familial Insomnia *","synonyms":["FFI"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fatal-familial-insomnia\/"},{"id":"191148","title":"Insomnio familiar fatal *","synonyms":["IFF"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/fatal-familial-insomnia\/"},{"id":"1921","title":"Pitt-Hopkins Syndrome *","synonyms":["PTHS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pitt-hopkins-syndrome\/"},{"id":"1922","title":"Clostridial Myonecrosis *","synonyms":["Clostridium myonecrosis","Clostridium septicum infection","Clostridium perfringens infection"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/clostridial-myonecrosis\/"},{"id":"273374","title":"Mionecrosis Clostridial *","synonyms":["Mionecrosis por Clostridium"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/clostridial-myonecrosis\/"},{"id":"1923","title":"Pneumocystis Pneumonia *","synonyms":["pneumocystis jirovecii pneumonia","PJP","PCP","PCP pneumonia","pneumocystic carini pneumonia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pneumocystis-pneumonia\/"},{"id":"271755","title":"Neumon\u00eda por Pneumocystis *","synonyms":["Neumon\u00eda por Pneumocystis jirovecii\t","PJP","PCP","Neumon\u00eda por PCP","Neumon\u00eda por Pneumocystis carinii","Neumocistosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/pneumocystis-pneumonia\/"},{"id":"1924","title":"Fibrolamellar Carcinoma *","synonyms":["fibrolamellar carcinoma or cancer (FLC)","fibrolamellar hepatocellular carcinoma (FL-HCC)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fibrolamellar-carcinoma\/"},{"id":"1925","title":"Liposarcoma *","synonyms":["lipomatous tumor"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/liposarcoma\/"},{"id":"198178","title":"Liposarcoma *","synonyms":["Tumor lipomatosos"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/liposarcoma\/"},{"id":"1926","title":"Antisynthetase Syndrome *","synonyms":["anti-synthetase syndrome","AS syndrome","ASSD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/antisynthetase-syndrome\/"},{"id":"1927","title":"PHACE Syndrome *","synonyms":["Pascual-Castroviejo type II syndrome","PHACE association","PHACES association","PHACES syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/phace-syndrome\/"},{"id":"1928","title":"Urachal Cancer *","synonyms":["urachal adenocarcinoma","urachal carcinoma"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/urachal-cancer\/"},{"id":"271117","title":"C\u00e1ncer de uraco *","synonyms":["Carcinoma de uraco","C\u00e1ncer uracal"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/urachal-cancer\/"},{"id":"1929","title":"Visual Snow Syndrome *","synonyms":["visual static","persistent positive visual phenomena"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/visual-snow-syndrome\/"},{"id":"1930","title":"Appendiceal Cancer and Tumors *","synonyms":["low grade mucinous neoplasm of the appendix (LAMN)","high grade mucinous neoplasms of the appendix (HAMN)","mucinous adenocarcinoma of the appendix","adenocarcinoma of the appendix","signet ring cell cancer of the appendix","goblet cell carcinoid","cystadenocarcinoma","nonmucinous adenocarcinoma","colonic type adenocarcinoma"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/appendiceal-cancer-tumors\/"},{"id":"1931","title":"Goblet Cell Adenocarcinoma *","synonyms":["goblet cell carcinoma","GCC","mucinous carcinoid","adenocarcinoid +\/-ex GCA","goblet cell tumors (GCT)","mucinous adenocarcinoids","microglandular-GCA","composite GCA-adenocarcinoma","mixed crypt cell carcinoma","adenocarcinoma ex GCA","appendiceal crypt cell adenocarcinoma","goblet cell carcinoma","goblet cell adenocarcinoid","goblet cell tumor"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/goblet-cell-carcinoid\/"},{"id":"1932","title":"Laurence-Moon Syndrome *","synonyms":["adipogenital-retinitis pigmentosa syndrome","LNMS","LMS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/laurence-moon-syndrome\/"},{"id":"1933","title":"Ocular Melanoma *","synonyms":["OM","eye melanoma"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ocular-melanoma\/"},{"id":"271706","title":"Melanoma ocular *","synonyms":["Melanoma del ojo","OM"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/ocular-melanoma\/"},{"id":"1934","title":"Gerstmann-Str\u00e4ussler-Scheinker Disease *","synonyms":["Gerstmann-Str\u00e4ussler-Scheinker (GSS) syndrome","GSS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/gerstmann-straussler-scheinker-disease\/"},{"id":"1935","title":"Hashimoto Encephalopathy *","synonyms":["HE","steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hashimoto-encephalopathy\/"},{"id":"1936","title":"Hereditary Breast and Ovarian Cancer Syndrome *","synonyms":["HBOC","HBOC syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hereditary-breast-ovarian-cancer-syndrome\/"},{"id":"1937","title":"Primary Hyperparathyroidism *","synonyms":["PHPT"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/primary-hyperparathyroidism\/"},{"id":"253963","title":"Hiperparatiroidismo primario *","synonyms":["PHPT"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/primary-hyperparathyroidism\/"},{"id":"1938","title":"Hemophagocytic Lymphohistiocytosis *","synonyms":["hemophagocytic syndrome","HLH"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hemophagocytic-lymphohistiocytosis\/"},{"id":"1939","title":"Autoinflammation with Infantile Enterocolitis *","synonyms":["AIFEC"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/autoinflammation-infantile-enterocolitis\/"},{"id":"1940","title":"Osteosarcoma *","synonyms":["osteogenic sarcoma"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/osteosarcoma\/"},{"id":"250493","title":"Osteosarcoma *","synonyms":["Sarcoma oste\u00f3geno"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/osteosarcoma\/"},{"id":"1941","title":"Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation *","synonyms":["LBSL","mitochondrial aspartyl-tRNA synthetase deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/leukoencephalopathy-brain-stem-spinal-cord-involvement-lactate-elevation\/"},{"id":"1942","title":"Hereditary Orotic Aciduria *","synonyms":["hereditary orotic aciduria","orotic aciduria type 1","OA type 1","orotidylic pyrophosphorylase and orotidlyic decarboxylase deficiency","UMPS deficiency","uridine monophosphate synthase deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hereditary-orotic-aciduria\/"},{"id":"1943","title":"Familial Platelet Disorder with Associated Myeloid Malignancy *","synonyms":["familial platelet disorder with predisposition to acute myeloid leukemia (FPD\/AML)","familial platelet disorder with propensity to myeloid malignancy (FPDMM)","familial platelet disorder with associated myeloid malignancy","hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1","aspirin-like platelet disorder","familial thrombocytopenia with propensity to acute myelogenous leukemia","FPD\/AML syndrome","FPDMM","FPS\/AML syndrome","hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1","platelet disorder, aspirin-like"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/familial-platelet-disorder-with-associated-myeloid-malignancy\/"},{"id":"271763","title":"Trastorno plaquetario familiar con neoplasia mieloide asociada *","synonyms":["Trastorno plaquetario familiar con predisposici\u00f3n a leucemia mieloide aguda ","FPD\/AML ","Trastorno plaquetario familiar con propensi\u00f3n a malignidad mieloide (FPDMM)"," Trastorno plaquetario familiar con malignidad mieloide asociada ","TPF\/LMA"," Trastorno plaquetario familiar con predisposici\u00f3n a leucemia miel\u00f3gena aguda ","Trastorno plaquetario familiar con predisposici\u00f3n a neoplasia mieloide ","Trombocitopenia familiar con propensi\u00f3n a leucemia miel\u00f3gena aguda ","Trastorno plaquetario familiar RUNX1 ","RUNX1-FPD ","RUNX1-FPDMM ","FPD-AML"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/familial-platelet-disorder-with-associated-myeloid-malignancy\/"},{"id":"1944","title":"TANGO2 Deficiency Disorder *","synonyms":["TANGO2-related metabolic encephalopathy and arrhythmias","metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration","TANGO2-related disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/tango2-related-metabolic-encephalopathy-and-arrhythmias\/"},{"id":"1945","title":"Factor X Deficiency *","synonyms":["congenital factor X deficiency ","congenital Stuart factor deficiency ","F10 deficiency ","Stuart-Power factor deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/factor-x-deficiency\/"},{"id":"153062","title":"Deficiencia del factor X *","synonyms":["Deficiencia cong\u00e9nita del factor X ","Deficiencia cong\u00e9nita del factor de Stuart ","Deficiencia de F10 ","Deficiencia del factor de Stuart-Power"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/factor-x-deficiency\/"},{"id":"1946","title":"Mucormycosis *","synonyms":["zygomycosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/mucormycosis\/"},{"id":"153656","title":"Mucormicosis *","synonyms":["Zigomicosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/mucormycosis\/"},{"id":"1947","title":"Merkel Cell Carcinoma *","synonyms":["cutaneous neuroendocrine carcinoma","Merkel cell skin cancer","MCC","neuroendocrine carcinoma of the skin","Merkel cell cancer"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/merkel-cell-carcinoma\/"},{"id":"216681","title":"Carcinoma de c\u00e9lulas de Merkel *","synonyms":["Carcinoma neuroendocrino cut\u00e1neo ","C\u00e1ncer de piel de c\u00e9lulas de Merkel ","CCM ","Carcinoma neuroendocrino de la piel ","C\u00e1ncer de c\u00e9lulas de Merkel"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/merkel-cell-carcinoma\/"},{"id":"1948","title":"Pure Autonomic Failure *","synonyms":["Bradbury-Eggleston syndrome","PAF"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pure-autonomic-failure\/"},{"id":"1949","title":"Cerebral Creatine Deficiency Syndromes *","synonyms":["CCDS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cerebral-creatine-deficiency-syndromes\/"},{"id":"271752","title":"S\u00edndromes de deficiencia de creatina cerebral *","synonyms":["CCDS","S\u00edndrome de deficiencia de creatina"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/cerebral-creatine-deficiency-syndromes\/"},{"id":"1950","title":"Post-Transplant Lymphoproliferative Disease *","synonyms":["PTLD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/posttransplant-lymphoproliferative-disorders\/"},{"id":"1951","title":"Dup15q Syndrome *","synonyms":["15q11.2-q13.1 duplication syndrome","dup15q syndrome","inverted duplication 15 (inv dup15)","partial trisomy 15","isodicentric chromosome 15 syndrome [Idic(15)]","interstitial duplication chromosome 15 [Int dup(15)]","supernumerary marker chromosome 15 (SMC15)","partial tetrasomy 15q","interstitial triplication 15 [Int trp(15)]"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/dup15q-syndrome\/"},{"id":"273358","title":"S\u00edndrome Dup15q *","synonyms":["S\u00edndrome de duplicaci\u00f3n 15q11.2-q13.1\t","Dup(15)(q11q13) ","S\u00edndrome de duplicaci\u00f3n 15q11q13","Trisom\u00eda 15q11q13 \t","S\u00edndrome Dup15q ","Duplicaci\u00f3n invertida 15 (inv dup15)","S\u00edndrome del cromosoma isodic\u00e9ntrico 15 [Idic(15)] ","Duplicaci\u00f3n intersticial del cromosoma 15 [Int dup(15)]","Cromosoma marcador supernumerario 15 (SMC15) ","Trisom\u00eda parcial 15","Tetrasom\u00eda parcial 15q ","Triplicaci\u00f3n intersticial 15 [Int trp(15)]"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/dup15q-syndrome\/"},{"id":"1952","title":"Multifocal Motor Neuropathy *","synonyms":["MMN","MMNCB","multifocal motor neuropathy with conduction block"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/multifocal-motor-neuropathy\/"},{"id":"1953","title":"Soft Tissue Sarcoma *","synonyms":["STS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/soft-tissue-sarcoma\/"},{"id":"255564","title":"Sarcoma de tejidos blandos *","synonyms":["SAS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/soft-tissue-sarcoma\/"},{"id":"1954","title":"KAT6A Syndrome *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/kat6a-syndrome\/"},{"id":"253863","title":"S\u00edndrome KAT6A *","synonyms":["S\u00edndrome de discapacidad intelectual-anomal\u00edas craneofaciales-defectos card\u00edacos autos\u00f3mico dominante","S\u00edndrome de Arboleda-Tham"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/kat6a-syndrome\/"},{"id":"1955","title":"Superior Mesenteric Artery Syndrome *","synonyms":["aortomesenteric artery compression","cast syndrome","duodenal vascular compression","mesenteric root syndrome","SMAS","SMA syndrome","Wilkie\u2019s syndrome","aortomesenteric artery duodenal compression"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/superior-mesenteric-artery-syndrome\/"},{"id":"142791","title":"S\u00edndrome de la arteria mesent\u00e9rica superior *","synonyms":["Compresi\u00f3n de la arteria aortomesent\u00e9rica ","S\u00edndrome de yeso ","Compresi\u00f3n vascular duodenal","S\u00edndrome de la ra\u00edz mesent\u00e9rica","SMAS","S\u00edndrome de AME","S\u00edndrome de Wilkie","Compresi\u00f3n duodenal de la arteria aortomesent\u00e9rica"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/sindrome-de-la-arteria-mesenterica-superior\/"},{"id":"1956","title":"Focal Segmental Glomerulosclerosis *","synonyms":["FSGS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/focal-segmental-glomerulosclerosis\/"},{"id":"1957","title":"Median Arcuate Ligament Syndrome *","synonyms":["MALS","celiac artery compression syndrome (CACS)","Dunbar syndrome","Harjola-Marable syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/median-arcuate-ligament-syndrome\/"},{"id":"1958","title":"SETBP1 Haploinsufficiency Disorder *","synonyms":["SETBP1-related disorder","SETBP1-related intellectual disability","SETBP1-related developmental delay","SETBP1 disorder","MRD29","SETBP1-HD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/setbp1-disorder\/"},{"id":"1959","title":"Kufor Rakeb Syndrome *","synonyms":["KRS","Kufor Rakeb disease","autosomal recessive, juvenile onset Parkinson\u2019s disease 9","Parkinson\u2019s disease 9","pallidopyramidal degeneration with supranuclear upgaze paresis and dementia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/kufor-rakeb-syndrome\/"},{"id":"273558","title":"S\u00edndrome de Kufor Rakeb *","synonyms":["KRS","Enfermedad de Kufor Rakeb","Enfermedad de Parkinson de inicio juvenil autos\u00f3mica recesiva 9","Enfermedad de Parkinson 9 ","PARK9 ","Degeneraci\u00f3n p\u00e1lido-piramidal con paresia supranuclear de la mirada y demencia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/kufor-rakeb-syndrome\/"},{"id":"1960","title":"Riboflavin Transporter Deficiency *","synonyms":["Brown-Vialetto-Van Laere syndrome","Fazio-Londe syndrome","riboflavin transporter deficiency neuronopathy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/riboflavin-transporter-deficiency\/"},{"id":"1961","title":"Small Cell Lung Cancer *","synonyms":["oat cell cancer","SCLC"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/small-cell-lung-cancer\/"},{"id":"271099","title":"C\u00e1ncer de pulm\u00f3n de c\u00e9lulas peque\u00f1as *","synonyms":["CPCP ","C\u00e1ncer de pulm\u00f3n microc\u00edtico"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/small-cell-lung-cancer\/"},{"id":"1962","title":"Testicular Cancer *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/testicular-cancer\/"},{"id":"1963","title":"COL4A1\/A2-Related Disorders *","synonyms":["COL4A1\/A2 syndrome","Gould syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/col4a1-a2-related-disorders\/"},{"id":"1964","title":"SLC6A1 Epileptic Encephalopathy *","synonyms":["SLC6A1-related myoclonic-atonic epilepsy (MAE)","SLC6A1 haploinsufficiency \/ loss of function","GAT1 deficiency","SLC6A1-related disorders"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/slc6a1-epileptic-encephalopathy\/"},{"id":"1965","title":"ADNP Syndrome *","synonyms":["ADNP-related intellectual disability, autism-related spectrum disorder","Helsmoortel-Van Der Aa syndrome (HVDAS)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/adnp-syndrome\/"},{"id":"271694","title":"S\u00edndrome ADNP *","synonyms":["HVDAS ","S\u00edndrome de Helsmoortel-Van der Aa ","Trastorno de discapacidad intelectual sindr\u00f3mica-espectro autista asociado al gen ADNP"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/adnp-syndrome\/"},{"id":"1966","title":"Creatine Transporter Deficiency *","synonyms":["creatine transporter defect","CTD","X-linked creatine deficiency","CRTR","SLC6A8"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/creatine-transporter-deficiency\/"},{"id":"1967","title":"Guanidinoacetate Methyltransferase Deficiency *","synonyms":["GAMT deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/guanidinoacetate-methyltransferase-deficiency\/"},{"id":"255478","title":"Deficiencia de guanidinoacetato metiltransferasa *","synonyms":["Deficiencia de GAMT "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/guanidinoacetate-methyltransferase-deficiency\/"},{"id":"1968","title":"Arginine: Glycine Amidinotransferase Deficiency *","synonyms":["AGAT deficiency","GATM deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/argininie-glycine-amidinotransferase-deficiency\/"},{"id":"179154","title":"Deficiencia de L-arginina:glicina amidinotransferasa *","synonyms":["Deficiencia de AGAT ","Deficiencia de GATM "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/argininie-glycine-amidinotransferase-deficiency\/"},{"id":"1969","title":"Primary Distal Renal Tubular Acidosis *","synonyms":["dRTA","familial distal primary renal acidosis","renal tubular acidosis type 1"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/primary-distal-renal-tubular-acidosis\/"},{"id":"1970","title":"Ovarian Cancer *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ovarian-cancer\/"},{"id":"1971","title":"Neurotrophic Keratitis *","synonyms":["neurotrophic keratopathy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/neurotrophic-keratitis\/"},{"id":"1972","title":"KIF1A-Related Disorder *","synonyms":["KIF1A-associated neurological disorder (KAND)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/kif1a-related-disorder\/"},{"id":"254001","title":"Trastorno relacionado con KIF1A *","synonyms":["Trastorno neurol\u00f3gico asociado a KIF1A (KAND)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/kif1a-related-disorder\/"},{"id":"1973","title":"COPA Syndrome *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/copa-syndrome\/"},{"id":"1974","title":"Stomach Cancer *","synonyms":["adenocarcinoma of the stomach","gastroesophageal junction cancer","gastric cancer"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/stomach-cancer\/"},{"id":"1975","title":"Protein S Deficiency *","synonyms":["hereditary thrombophilia due to protein S deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/protein-s-deficiency\/"},{"id":"1976","title":"Pediatric Crohn\u2019s Disease *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pediatric-crohns-disease\/"},{"id":"1977","title":"Potter Syndrome *","synonyms":["oligohydramnios sequence","Potter sequence"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/potter-syndrome\/"},{"id":"1978","title":"Primary Mitochondrial Myopathies *","synonyms":["PMM"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/primary-mitochondrial-myopathies\/"},{"id":"1979","title":"Hemiplegic Migraine *","synonyms":["familial hemiplegic migraine","sporadic hemiplegic migraine","migraine with motor aura"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hemiplegic-migraine\/"},{"id":"153119","title":"Migra\u00f1a hemipl\u00e9jica *","synonyms":["Migra\u00f1a con aura motora","Migra\u00f1a hemipl\u00e9jica familiar o espor\u00e1dica"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/hemiplegic-migraine\/"},{"id":"1980","title":"Deoxyhypusine Synthase Disorder *","synonyms":["DHPS disorder","DHPS deficiency","deoxyhypusine synthase deficiency","neurodevelopmental disorder with seizures and speech and walking impairment"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/deoxyhypusine-synthase-disorder\/"},{"id":"255562","title":"Trastorno de desoxihipusina sintasa *","synonyms":["Trastorno del neurodesarrollo con convulsiones y problemas del habla y la marcha "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/deoxyhypusine-synthase-disorder\/"},{"id":"1981","title":"Bohring-Opitz Syndrome *","synonyms":["Oberklaid-Danks syndrome","BOS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/bohring-opitz-syndrome\/"},{"id":"271590","title":"S\u00edndrome de Bohring-Opitz *","synonyms":["S\u00edndrome de Oberklaid-Danks","BOS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/bohring-opitz-syndrome\/"},{"id":"1982","title":"ADCY5-Related Dyskinesia *","synonyms":["dyskinesia with orofacial 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pregnancy","AFE"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/amniotic-fluid-embolism\/"},{"id":"270903","title":"Embolia de l\u00edquido amni\u00f3tico *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/amniotic-fluid-embolism\/"},{"id":"1986","title":"Pediatric Non-Small Cell Lung Cancer *","synonyms":["pediatric NSCLC"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pediatric-non-small-cell-lung-cancer\/"},{"id":"1987","title":"Gestational Trophoblastic Disease *","synonyms":["GTD","gestational trophoblastic neoplasia (GTN)","malignant gestational trophoblastic disease","persistent gestational trophoblastic disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/gestational-trophoblastic-disease\/"},{"id":"1988","title":"KCNB1 Encephalopathy *","synonyms":["early infantile epileptic encephalopathy (EIEE26)","<em>KCNB1<\/em>-related epilepsy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/kcnb1-encephalopathy\/"},{"id":"1989","title":"Spastic Paraplegia 50 *","synonyms":["SPG50","<em>AP4M1<\/em>-associated hereditary spastic paraplegia","AP-4 deficiency syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/spastic-paraplegia-50\/"},{"id":"270957","title":"Paraplej\u00eda esp\u00e1stica 50 *","synonyms":["SPG50","Paraplej\u00eda esp\u00e1stica hereditaria asociada a AP4M1 ","S\u00edndrome de deficiencia de AP-4"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/spastic-paraplegia-50\/"},{"id":"1990","title":"Spastic Paraplegia 51 *","synonyms":["SPG51","<em>AP4E1<\/em>-associated hereditary spastic paraplegia","AP-4 deficiency 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syndrome","Adaptor protein complex 4 (AP-4) deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ap-4-associated-hereditary-spastic-paraplegia\/"},{"id":"273480","title":"Paraplej\u00eda esp\u00e1stica hereditaria asociada a AP-4 (AP-4-HSP) *","synonyms":["S\u00edndrome de deficiencia de AP-4 ","Deficiencia del complejo de prote\u00ednas adaptadoras 4 (AP-4)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/ap-4-associated-hereditary-spastic-paraplegia\/"},{"id":"1993","title":"Spastic Paraplegia 47 *","synonyms":["SPG47","<em>AP4B1<\/em>-associated hereditary spastic paraplegia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/spastic-paraplegia-47\/"},{"id":"270765","title":"Paraplej\u00eda esp\u00e1stica 47 *","synonyms":["SPG47","AAP47 ","Paraplej\u00eda esp\u00e1stica hereditaria asociada a 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respiratoria tipo 1 ","Neuropat\u00eda motora distal hereditaria tipo 6 ","dHMN6 ","dSMA"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/spinal-muscular-atrophy-with-respiratory-distress\/"},{"id":"1995","title":"Glioma *","synonyms":["glial tumor","glial cell tumor","glial neoplasm"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/glioma\/"},{"id":"271185","title":"Glioma *","synonyms":["Tumor glial","Tumor de c\u00e9lulas gliales ","Neoplasia glial"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/glioma\/"},{"id":"1996","title":"Craniopharyngioma *","synonyms":["Rathke\u2019s pouch tumor","craniopharyngeal duct tumor"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/craniopharyngioma\/"},{"id":"1997","title":"Cerebral Folate Deficiency *","synonyms":["cerebral folate deficiency syndrome","cerebral folate transport 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cong\u00e9nita *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/congenital-athymia\/"},{"id":"1999","title":"Renal Medullary Carcinoma *","synonyms":["RMC","medullary carcinoma of the kidney","kidney medullary carcinoma","renal cell carcinoma, unclassified, with medullary phenotype","RCCU-MP","medullary renal cell carcinoma"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/renal-medullary-carcinoma\/"},{"id":"2000","title":"Autosomal Recessive Hypophosphatemic Rickets Type 2 *","synonyms":["ARHR2","ENPP1 deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/autosomal-recessive-hypophosphatemic-rickets-type-2\/"},{"id":"181476","title":"Autosomal Recessive Hypophosphatemic Rickets Type 2 *","synonyms":["ARHR2","Deficiencia de ENPP1"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/autosomal-recessive-hypophosphatemic-rickets-type-2\/"},{"id":"2001","title":"Generalized Arterial Calcification of Infancy *","synonyms":["ENPP1 deficiency","ABCC6 deficiency","idiopathic infantile arterial calcification (IIAC)","idiopathic arterial calcification of infancy (IACI)","arterial calcification of infancy","occlusive infantile arterial calcification","occlusive infantile arteriopathy","GACI"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/generalized-arterial-calcification-of-infancy\/"},{"id":"193959","title":"Calcificaci\u00f3n arterial generalizada de la infancia *","synonyms":["Deficiencia de ENPP1 ","Deficiencia de ABCC6 ","Calcificaci\u00f3n arterial infantil idiop\u00e1tica (IIAC) ","Calcificaci\u00f3n arterial idiop\u00e1tica de la infancia (IACI) ","Calcificaci\u00f3n arterial de la infancia ","Calcificaci\u00f3n arterial infantil oclusiva ","Arteriopat\u00eda infantil oclusiva "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/generalized-arterial-calcification-of-infancy\/"},{"id":"2002","title":"Primary Central Nervous System Lymphoma *","synonyms":["primary CNS lymphoma","PCNSL"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/primary-central-nervous-system-lymphoma\/"},{"id":"259889","title":"Linfoma primario del sistema nervioso central *","synonyms":["Linfoma cerebral primario ","Linfoma del SNC primario ","PCNSL"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/primary-central-nervous-system-lymphoma\/"},{"id":"1434","title":"Meningioma *","synonyms":["meningeal tumor"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/meningioma\/"},{"id":"200222","title":"Meningioma *","synonyms":["Tumor men\u00edngeo "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/meningioma\/"},{"id":"2003","title":"Acute Promyelocytic Leukemia *","synonyms":["APL","APML"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/acute-promyelocytic-leukemia\/"},{"id":"253787","title":"Leucemia promieloc\u00edtica aguda *","synonyms":["LPA"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/acute-promyelocytic-leukemia\/"},{"id":"2004","title":"Thyroid Eye Disease *","synonyms":["Graves\u2019 eye disease","Graves\u2019 ophthalmopathy","Graves\u2019 orbitopathy","TED"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/thyroid-eye-disease\/"},{"id":"259297","title":"Enfermedad ocular tiroidea *","synonyms":["Enfermedad ocular de Graves ","Oftalmopat\u00eda de Graves ","Orbitopat\u00eda de Graves","TED"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/thyroid-eye-disease\/"},{"id":"2005","title":"Miller Fisher Syndrome *","synonyms":["MFS","Fisher syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/miller-fisher-syndrome\/"},{"id":"150937","title":"S\u00edndrome de Miller Fisher *","synonyms":["SMF","S\u00edndrome de Fisher","Variante craneal del SGB ","Variante craneal del s\u00edndrome de Guillain-Barr\u00e9"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/miller-fisher-syndrome\/"},{"id":"2006","title":"Takotsubo Cardiomyopathy *","synonyms":["takotsubo syndrome","broken heart syndrome","stress cardiomyopathy","ampulla cardiomyopathy","apical ballooning syndrome","Tako-Tsubo cardiomyopathy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/takotsubo-cardiomyopathy\/"},{"id":"256302","title":"Miocardiopat\u00eda 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psoriasis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/palmoplantar-pustulosis\/"},{"id":"270785","title":"Pustulosis palmoplantar *","synonyms":["pustulosis palmaris et plantaris","PPP","localized pustular psoriasis (LPP)","palmoplantar pustular psoriasis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/palmoplantar-pustulosis\/"},{"id":"2009","title":"Superficial Siderosis *","synonyms":["superficial siderosis of the central nervous system","subpial siderosis","cerebellar siderosis","superficial hemosiderosis","hemosiderosis of the central nervous system"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/superficial-siderosis\/"},{"id":"256584","title":"Superficial Siderosis *","synonyms":["Siderosis superficial del sistema nervioso central"," Siderosis subpial","Siderosis cerebelar","Hemosiderosis superficial","Hemosiderosis del sistema nervioso 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"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/mn1-c-terminal-truncation-syndrome\/"},{"id":"2013","title":"MEF2C Deficiency *","synonyms":["5q14.3 microdeletion syndrome","MEF2C haploinsufficiency syndrome","MRD20"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/mef2c-deficiency\/"},{"id":"2014","title":"STXBP1 Disorders *","synonyms":["<em>STXBP1<\/em> encephalopathy","<em>STXBP1<\/em> epileptic encephalopathy","<em>STXBP1<\/em>-related disorders","developmental and epileptic encephalopathy 4 [MIM: 612164]"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/stxbp1-disorders\/"},{"id":"2015","title":"Shashi-Pena Syndrome *","synonyms":["ASXL2\/Shashi-Pena syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/shashi-pena-syndrome\/"},{"id":"255982","title":"S\u00edndrome de Shashi-Pe\u00f1a *","synonyms":["ASXL2\/S\u00edndrome de Shashi-Pe\u00f1a"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/shashi-pena-syndrome\/"},{"id":"2016","title":"Hypothalamic Obesity, Acquired *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hypothalamic-obesity-acquired\/"},{"id":"2017","title":"Neuropathic Ocular Pain *","synonyms":["neuropathic dry eyes","neuropathic corneal pain","corneal neuropathy","corneal neuralgia","keratoneuralgia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/neuropathic-ocular-pain\/"},{"id":"2018","title":"Recurrent Pericarditis *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/recurrent-pericarditis\/"},{"id":"256003","title":"Pericarditis recurrente *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/recurrent-pericarditis\/"},{"id":"2019","title":"Short QT Syndrome *","synonyms":["SQTS","SQT"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/short-qt-syndrome\/"},{"id":"2020","title":"Hepatitis D *","synonyms":["HDV","hepatitis D virus","hepatitis delta","delta hepatitis","delta infection"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hepatitis-d\/"},{"id":"256198","title":"Hepatitis D *","synonyms":["HDV ","Virus de la hepatitis D ","Hepatitis delta","Infecci\u00f3n delta"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/hepatitis-d\/"},{"id":"2021","title":"Twin Anemia Polycythemia Sequence *","synonyms":["TAPS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/twin-anemia-polycythemia-sequence\/"},{"id":"255825","title":"Secuencia anemia-policitemia en gemelares *","synonyms":["Secuencia de anemia-policitemia en gemelares"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/twin-anemia-polycythemia-sequence\/"},{"id":"2022","title":"Prurigo Nodularis *","synonyms":["prurigo nodularis of Hyde","nodular prurigo","Picker's nodules","atypical nodular form of neurodermatitis circumscripta","lichen corneus obtusus","PN"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/prurigo-nodularis\/"},{"id":"151103","title":"Prurigo nodular *","synonyms":["Prurigo nodularis de Hyde","N\u00f3dulos de Picker","Forma nodular at\u00edpica de neurodermatitis circunscripta ","Liquen c\u00f3rneo obtuso","Prurigo nodularis","PN"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/prurigo-nodularis\/"},{"id":"2023","title":"Immunotactoid Glomerulopathy\u00a0 *","synonyms":["glomerulonephritis with organized monoclonal microtubular immunoglobulin deposits (GIMMD)","non-amyloid immunotactoid glomerulonephritis","Congo red-negative amyloidosis-like glomerulopathy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/immunotactoid-glomerulopathy\/"},{"id":"2024","title":"Fibrillary Glomerulonephritis\u00a0 *","synonyms":["fibrillary GN","non-amyloid fibrillary glomerulopathy","Congo red-negative amyloidosis-like glomerulopathy","don-amyloid fibrillary glomerulonephritis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fibrillary-glomerulonephritis\/"},{"id":"255821","title":"Glomerulonefritis fibrilar *","synonyms":["GN fibrilar ","Glomerulopat\u00eda fibrilar no amiloide ","Glomerulopat\u00eda similar a la amiloidosis con rojo Congo negativo ","Glomerulonefritis fibrilar no amiloide"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/fibrillary-glomerulonephritis\/"},{"id":"2025","title":"Auditory Neuropathy Spectrum Disorder *","synonyms":["auditory de-synchrony","auditory neuropathy (AN)","auditory dyssynchrony","ANSD","auditory mismatch"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/auditory-neuropathy-spectrum-disorder\/"},{"id":"255411","title":"Trastorno del espectro de la neuropat\u00eda auditiva *","synonyms":["Desincron\u00eda auditiva ","Neuropat\u00eda auditiva","Disincron\u00eda auditiva ","ANSD","Desajuste auditivo"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/auditory-neuropathy-spectrum-disorder\/"},{"id":"2026","title":"MAPK8IP3-Related Neurodevelopmental Disorder *","synonyms":["neurodevelopmental disorder with or without variable brain abnormalities (NEDBA)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/mapk8ip3-related-neurodevelopmental-disorder\/"},{"id":"271529","title":"Trastorno del neurodesarrollo relacionado con MAPK8IP3 *","synonyms":["Trastorno del neurodesarrollo con o sin anomal\u00edas cerebrales variables (NEDBA)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/mapk8ip3-related-neurodevelopmental-disorder\/"},{"id":"2027","title":"Spondyloepiphyseal Dysplasia, Kondo-Fu Type *","synonyms":["SEDFK"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/spondyloepiphyseal-dysplasia-kondo-fu-type\/"},{"id":"270989","title":"Displasia espondiloepifisaria tipo Kondo-Fu *","synonyms":["SEDFK"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/spondyloepiphyseal-dysplasia-kondo-fu-type\/"},{"id":"2028","title":"Congenital Tracheomalacia *","synonyms":["congenital major airway collapse","type 1 tracheomalacia","congenital TM"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/congenital-tracheomalacia\/"},{"id":"256537","title":"Traqueomalacia cong\u00e9nita *","synonyms":["Colapso cong\u00e9nito de las v\u00edas respiratorias mayores ","Traqueomalacia tipo 1 ","MT cong\u00e9nita"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/congenital-tracheomalacia\/"},{"id":"2030","title":"Pendred Syndrome *","synonyms":["PDS","deafness with goiter","goiter-deafness syndrome","autosomal recessive sensorineural hearing impairment, enlarged vestibular aqueduct, and goiter"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pendred-syndrome\/"},{"id":"2031","title":"Perrault Syndrome *","synonyms":["gonadal dysgenesis, XX type, with deafness","ovarian dysgenesis with sensorineural deafness","gonadal dysgenesis, XX type"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/perrault-syndrome\/"},{"id":"260468","title":"S\u00edndrome de Perrault *","synonyms":["Disgenesia gonadal, tipo XX, con sordera ","Disgenesia ov\u00e1rica con sordera neurosensorial ","Disgenesia gonadal, tipo XX"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/perrault-syndrome\/"},{"id":"2032","title":"MOG Antibody Disease *","synonyms":["MOGAD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/mog-antibody-disease\/"},{"id":"271010","title":"Enfermedad por anticuerpos MOG *","synonyms":["MOGAD","Enfermedad asociada a anticuerpos anti-MOG","Enfermedad de anticuerpo Mielina Oligodendrocito Glicoprote\u00edna","Trastorno asociado con anticuerpos anti-MOG ","Trastorno de anticuerpos contra la glicoprote\u00edna de oligodendrocitos de mielina"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/mog-antibody-disease\/"},{"id":"2033","title":"Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia *","synonyms":["hereditary diffuse leukoencephalopathy with spheroids (HDLS)","leukoencephalopathy, diffuse hereditary, with spheroids","adult-onset leukodystrophy with neuroaxonal spheroids","autosomal dominant leukoencephalopathy with neuroaxonal spheroids","neuroaxonal leukodystrophy","pigmentary orthochromatic leukodystrophy (POLD)","CSF1R-related leukoencephalopathy","ALSP","CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia","CSF1R-related ALSP"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/adult-onset-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia\/"},{"id":"256580","title":"Leucoencefalopat\u00eda de inicio en el adulto con esferoides axonales y c\u00e9lulas gliales pigmentadas *","synonyms":["Leucoencefalopat\u00eda, hereditaria difusa, con esferoides ","Leucodistrofia de inicio en la edad adulta con esferoides neuroaxonales ","Leucoencefalopat\u00eda autos\u00f3mica dominante con esferoides neuroaxonales"," Leucodistrofia neuroaxonal ","Leucoencefalopat\u00eda relacionada con CSF1R ","ALSP ","Demencia familiar tipo Neumann ","Gliosis subcortical de Neumann","Gliosis subcortical progresiva familiar","HDLS ","FPSG ","GPSC ","Leucodistrofia ortocrom\u00e1tica pigmentaria","Leucoencefalopat\u00eda de inicio en el adulto con esferoides axonales y c\u00e9lulas gliales pigmentadas ","Leucoencefalopat\u00eda difusa hereditaria con esferoides ","Leucoencefalopat\u00eda difusa hereditaria, con esferoides 1","POLD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/adult-onset-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia\/"},{"id":"2034","title":"Liddle Syndrome *","synonyms":["pseudoaldosteronism","pseudohyperaldosteronism"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/liddle-syndrome\/"},{"id":"2035","title":"Myoclonic Atonic Epilepsy *","synonyms":["Doose syndrome","epilepsy with myoclonic-astatic seizures","epilepsy with myoclonic-atonic seizures (EMAS)","epilepsy with myoclonic-astatic crisis","myoclonic astatic epilepsy","MAE"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/myoclonic-atonic-epilepsy\/"},{"id":"2036","title":"PIK3CA-Related Overgrowth Spectrum *","synonyms":["PROS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pik3ca-related-overgrowth-spectrum\/"},{"id":"255076","title":"S\u00edndrome de sobrecrecimiento asociado al gen PIK3CA *","synonyms":["PROS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/pik3ca-related-overgrowth-spectrum\/"},{"id":"2037","title":"Perivascular Epithelioid Cell Neoplasm *","synonyms":["perivascular epithelioid tumor","PEComa"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/perivascular-epithelioid-cell-neoplasm\/"},{"id":"143932","title":"Neoplasia de c\u00e9lulas epitelioides perivasculares *","synonyms":["Tumor epitelioide perivascular","PEComa"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/neoplasia-de-celulas-epitelioides-perivasculares\/"},{"id":"2038","title":"48, XXYY Syndrome *","synonyms":["XXYY syndrome","48, XXYY variant of Klinefelter syndrome","48, XXYY Klinefelter syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/48-xxyy-syndrome\/"},{"id":"254214","title":"S\u00edndrome 48,XXYY *","synonyms":["S\u00edndrome XXYY ","Variante 48, XXYY del s\u00edndrome de Klinefelter ","S\u00edndrome de Klinefelter 48, XXYY "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/48-xxyy-syndrome\/"},{"id":"91166","title":"Large Granular Lymphocyte Leukemia *","synonyms":["LGLL","large granular lymphocytic leukemia","LGL leukemia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/large-granular-lymphocyte-leukemia\/"},{"id":"153648","title":"Leucemia de linfocitos grandes granulares *","synonyms":["LGLL","Leucemia de linfocitos granulares grandes ","LGL leucemia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/large-granular-lymphocyte-leukemia\/"},{"id":"91167","title":"Smith-Kingsmore Syndrome *","synonyms":["SKS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/smith-kingsmore-syndrome\/"},{"id":"132879","title":"S\u00edndrome de Smith-Kingsmore *","synonyms":["SKS","S\u00edndrome de microcefalia-discapacidad intelectual-trastorno del neurodesarrollo-t\u00f3rax peque\u00f1o","S\u00edndrome MINDS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/sindrome-de-smith-kingsmore\/"},{"id":"91168","title":"GPT2 Deficiency *","synonyms":["alanine transaminase 2 (<em>ALT2<\/em>) deficiency","neurodevelopmental disorder with spastic paraplegia and microcephaly","autosomal recessive intellectual disability associated with <em>GPT2<\/em> gene","glutamate pyruvate transaminase 2 deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/gpt2-deficiency\/"},{"id":"254202","title":"Deficiencia de GPT2 *","synonyms":["Deficiencia de alanina transaminasa 2 (ALT2) ","Trastorno del neurodesarrollo con paraplej\u00eda esp\u00e1stica y microcefalia","Discapacidad intelectual autos\u00f3mica recesiva asociada al gen GPT2","Deficiencia de glutamato piruvato transaminasa 2","S\u00edndrome de microcefalia postnatal-hipoton\u00eda infantil-diplej\u00eda esp\u00e1stica-disartria-discapacidad intelectual"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/gpt2-deficiency\/"},{"id":"91169","title":"Koolen-de Vries Syndrome *","synonyms":["17q21. 31 microdeletion syndrome","KdVS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/koolen-de-vries-syndrome\/"},{"id":"91170","title":"Fetal and Neonatal Alloimmune Thrombocytopenia *","synonyms":["FNAIT","neonatal alloimmune thrombocytopenia (NAIT)","fetomaternal alloimmune thromobocytopenia (FMAIT)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/fetal-and-neonatal-alloimmune-thrombocytopenia\/"},{"id":"255570","title":"Trombocitopenia aloinmune fetal y neonatal *","synonyms":["FNAIT","NAIT"," Tromobocitopenia aloinmune fetomaterna (FMAIT)","Trombocitopenia aloinmune neonatal (NAIT)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/fetal-and-neonatal-alloimmune-thrombocytopenia\/"},{"id":"91171","title":"Mueller-Weisse Disease *","synonyms":["Brailsford disease","adult tarsal scaphoiditis","spontaneous adult navicular osteonecrosis","listhesis navicularis","Mueller-Weiss syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/mueller-weisse-disease\/"},{"id":"144548","title":"Enfermedad de Mueller-Weiss *","synonyms":["Enfermedad de Brailsford ","Osteonecrosis de hueso tarsiano de Mueller-Weiss","Osteonecrosis espont\u00e1nea del navicular del adulto ","Listesis navicular "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/enfermedad-de-mueller-weiss\/"},{"id":"91172","title":"Thymidine Kinase 2 Deficiency *","synonyms":["TK2D","mitochondrial DNA depletion syndrome 2","mitochondrial DNA depletion syndrome 2 (myopathic type)","MTDPS2","mitochondrial DNA depletion myopathy - TK2-related","TK2-related mitochondrial DNA maintenance defect, myopathic form"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/thymidine-kinase-2-deficiency\/"},{"id":"91173","title":"Loeys-Dietz Syndrome *","synonyms":["LDS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/loeys-dietz-syndrome\/"},{"id":"273507","title":"S\u00edndrome de Loeys-Dietz *","synonyms":["LDS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/loeys-dietz-syndrome\/"},{"id":"91174","title":"Idiopathic Pulmonary Hemosiderosis *","synonyms":["IPH","immune-mediated pulmonary hemosiderosis (ImPH)","diffuse alveolar hemorrhage (DAH)","diffuse pulmonary hemorrhage (DPH)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/idiopathic-pulmonary-hemosiderosis\/"},{"id":"271015","title":"Hemosiderosis pulmonar idiop\u00e1tica *","synonyms":["IPH ","Hemosiderosis pulmonar inmunomediada (ImPH) ","Hemorragia alveolar difusa (DAH) ","Hemorragia pulmonar difusa (DPH)","Hemosiderosis pulmonar"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/idiopathic-pulmonary-hemosiderosis\/"},{"id":"102279","title":"Tatton Brown Rahman Syndrome *","synonyms":["TBRS","DNMT3A overgrowth syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/tatton-brown-rahman-syndrome\/"},{"id":"142804","title":"S\u00edndrome de Tatton Brown Rahman *","synonyms":["TBRS","S\u00edndrome de sobrecrecimiento de DNMT3A "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/sindrome-de-tatton-brown-rahman\/"},{"id":"102487","title":"UGDH-Related Disorder *","synonyms":["developmental and epileptic encephalopathy 84; DEE84","epileptic encephalopathy, early infantile, 84; EIEE84","Jamuar syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ugdh-related-disorder\/"},{"id":"271122","title":"Trastorno relacionado con UGDH *","synonyms":["Encefalopat\u00eda epil\u00e9ptica y del desarrollo 84; DEE84"," Encefalopat\u00eda epil\u00e9ptica infantil temprana, 84; EIEE84","S\u00edndrome de Jamuar"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/ugdh-related-disorder\/"},{"id":"106056","title":"Urothelial carcinoma of the renal pelvis and ureter *","synonyms":["Transitional cell carcinoma of the renal pelvis and ureter","Upper tract urothelial carcinoma","UTUC","UC"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/urothelial-carcinoma-of-the-renal-pelvis-and-ureter\/"},{"id":"270787","title":"Carcinoma urotelial de pelvis renal y ur\u00e9ter *","synonyms":["Carcinoma de c\u00e9lulas transicionales de pelvis renal y ur\u00e9ter ","Carcinoma urotelial de las v\u00edas urinarias superiores ","Carcinoma urotelial del tracto superior ","Carcinoma de c\u00e9lulas transicionales de la pelvis y el ur\u00e9ter ","Carcinoma de c\u00e9lulas transicionales de las v\u00edas urinarias superiores ","UTUC","UC","CU-VUS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/urothelial-carcinoma-of-the-renal-pelvis-and-ureter\/"},{"id":"109383","title":"Bachmann-Bupp Syndrome *","synonyms":["ODC1 gain-of-function-related neurodevelopmental disorder","neurodevelopmental disorder with alopecia and brain abnormalities; NEDABA","BABS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/bachmann-bupp-syndrome\/"},{"id":"142302","title":"S\u00edndrome de Bachmann-Bupp *","synonyms":["S\u00edndrome de retraso global del desarrollo-alopecia-macrocefalia-dismorfia facial-anomal\u00edas estructurales cerebrales ","Deficiencia de ornitina decarboxilasa"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/sindrome-de-bachmann-bupp\/"},{"id":"109401","title":"LEPR Deficiency *","synonyms":["obesity, morbid, due to leptin receptor deficiency","obesity due to leptin receptor gene deficiency","leptin receptor deficiency","LepR deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/lepr-deficiency\/"},{"id":"132393","title":"Obesidad por deficiencia del gen receptor de leptina *","synonyms":["Obesidad, m\u00f3rbida, debido a la deficiencia del receptor de leptina","Obesidad debido a la deficiencia del gen del receptor de leptina","Deficiencia del receptor de leptina","Deficiencia de LepR"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/obesidad-por-deficiencia-del-gen-receptor-de-leptina\/"},{"id":"109523","title":"PCSK1 Deficiency *","synonyms":["obesity due to prohormone convertase deficiency","obesity and endocrinopathy due to impaired processing of prohormones","proprotein convertase 1\/3 deficiency","proprotein convertase-1 deficiency","PC 1 deficiency","prohormone convertase 1 deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pcsk1-deficiency\/"},{"id":"124214","title":"Obesidad por deficiencia de prohormona convertasa-I *","synonyms":["Obesidad por deficiencia de prohormona convertasa","Obesidad por deficiencia de PCK1","Obesidad y endocrinopat\u00eda debido al procesamiento alterado de prohormonas","Deficiencia de proprote\u00edna convertasa 1\/3","Deficiencia de proprote\u00edna convertasa-1","Deficiencia de PC 1","Deficiencia de prohormona convertasa 1"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/pcsk1-deficiency\/"},{"id":"110450","title":"POMC Deficiency *","synonyms":["obesity due to pro-opiomelanocortin deficiency","POMC","obesity, adrenal insufficiency and red hair due to POMC deficiency","obesity, early-onset, with adrenal insufficiency and red hair (OBAIRH)","proopiomelanocortin deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pomc-deficiency\/"},{"id":"144514","title":"Obesidad por deficiencia de pro-opiomelanocortin (POMC) *","synonyms":["Obesidad por deficiencia de pro-opiomelanocortin","POMC","Obesidad, insuficiencia suprarrenal y cabello rojo debido a la deficiencia de POMC","Obesidad de inicio temprano con insuficiencia suprarrenal y pelo rojo (OBAIRH) ","Deficiencia de proopiomelanocortina."],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/obesidad-por-deficiencia-de-pro-opiomelanocortin-pomc\/"},{"id":"110641","title":"Congenital Leptin Deficiency *","synonyms":["obesity due to congenital leptin deficiency","LEPD","leptin deficiency or dysfunction","obesity, morbid due to congenital leptin deficiency","CLD","leptin deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/congenital-leptin-deficiency\/"},{"id":"110845","title":"KAT6B-Related Disorders *","synonyms":["KAT6B syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/kat6b-related-disorders\/"},{"id":"144489","title":"S\u00edndrome de anomal\u00edas cong\u00e9nitas m\u00faltiples asociado al gen KAT6B *","synonyms":["s\u00edndrome KAT6B","trastornos relacionados con KAT6B"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/sindrome-de-anomalias-congenitas-multiples-asociado-al-gen-kat6b\/"},{"id":"111336","title":"EEF1A2-Related Neurodevelopmental Disorder *","synonyms":["developmental and epileptic encephalopathy-33 (DEE 33)","epileptic encephalopathy, early infantile, 33","intellectual developmental disorder, autosomal dominant 38","psychomotor retardation, epilepsy, and language disability syndrome","Rett-like syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/eef1a2-related-neurodevelopmental-disorder\/"},{"id":"144486","title":"Trastorno del neurodesarrollo relacionado con EEF1A2 *","synonyms":["Encefalopat\u00eda epil\u00e9ptica y del desarrollo asociada al gen EEF1A2 ","Encefalopat\u00eda epil\u00e9ptica y del desarrollo-33 (DEE 33) ","Encefalopat\u00eda epil\u00e9ptica infantil temprana, 33 ","Trastorno del desarrollo intelectual, autos\u00f3mico dominante 38 ","S\u00edndrome de retraso psicomotor, epilepsia y discapacidad del lenguaje","S\u00edndrome tipo Rett"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/trastorno-del-neurodesarrollo-relacionado-con-eef1a2\/"},{"id":"111728","title":"Aicardi-Gouti\u00e8res Syndrome *","synonyms":["AGS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/aicardi-goutieres-syndrome\/"},{"id":"143971","title":"S\u00edndrome de Aicardi-Goutieres *","synonyms":["SAG"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/sindrome-de-aicardi-goutieres\/"},{"id":"111729","title":"Juvenile Ossifying Fibroma *","synonyms":["JOF"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/juvenile-ossifying-fibroma\/"},{"id":"143408","title":"Fibroma osificante juvenil *","synonyms":["JOF"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/fibroma-osificante-juvenil\/"},{"id":"111730","title":"Osteochondritis Dissecans *","synonyms":["osteochondrosis dissecans","osteochondral lesion"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/osteochondritis-dissecans\/"},{"id":"143417","title":"Osteocondritis Disecante *","synonyms":["Osteocondrosis disecante","Enfermedad de K\u00f4nig"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/osteocondritis-disecante\/"},{"id":"111731","title":"Renal Oncocytoma *","synonyms":["oncocytoma of the kidney"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/renal-oncocytoma\/"},{"id":"142337","title":"Oncocitoma renal *","synonyms":["oncocitoma del ri\u00f1\u00f3n"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/oncocitoma-renal\/"},{"id":"111932","title":"CTNNB1 Syndrome *","synonyms":["CTNNB1 neurodevelopmental disorder (CTNNB1-NDD) ","neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV)","severe intellectual disability-progressive spastic diplegia syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ctnnb1-syndrome\/"},{"id":"139284","title":"S\u00edndrome CTNNB1 *","synonyms":["S\u00edndrome de discapacidad intelectual grave-diplej\u00eda esp\u00e1stica progresiva"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/ctnnb1-syndrome\/"},{"id":"111933","title":"Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) *","synonyms":["p110-delta-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency (PASLI)","Immunodeficiency 14","PI3K- delta syndrome "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/activated-phosphoinositide-3-kinase-delta-syndrome-apds\/"},{"id":"142258","title":"S\u00edndrome de fosfoinositida 3-quinasa delta activada *","synonyms":["APDS","S\u00edndrome de c\u00e9lulas-T senescentes-linfadenopat\u00eda-inmunodeficiencia por una mutaci\u00f3n activadora de p110delta"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/sindrome-de-fosfoinositida-3-quinasa-delta-activada\/"},{"id":"124536","title":"Epithelioid Hemangioendothelioma *","synonyms":["EHE"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/epithelioid-hemangioendothelioma\/"},{"id":"260471","title":"Hemangioendotelioma epitelioide *","synonyms":["EHE"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/epithelioid-hemangioendothelioma\/"},{"id":"139551","title":"ASXL3-Related Disorder *","synonyms":["Bainbridge-Ropers syndrome","ASXL3 syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/asxl3-related-disorder\/"},{"id":"150499","title":"Trastorno asociado a ASXL3 *","synonyms":["S\u00edndrome de Bainbridge-Ropers","S\u00edndrome ASXL3"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/trastorno-asociado-a-asxl3\/"},{"id":"143373","title":"Lafora Disease *","synonyms":["epilepsy progressive myoclonic 2","Lafora body disorder","myoclonic epilepsy of Lafora","Lafora body disease","Lafora progressive myoclonic epilepsy","progressive myoclonic epilepsy type 2","progressive myoclonus epilepsy, Lafora type"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/lafora-disease\/"},{"id":"153646","title":"Enfermedad de Lafora *","synonyms":["Epilepsia miocl\u00f3nica progresiva 2 ","Trastorno corporal de Lafora ","Epilepsia miocl\u00f3nica de Lafora ","Enfermedad del cuerpo de lafora ","Epilepsia miocl\u00f3nica progresiva de Lafora ","Epilepsia miocl\u00f3nica progresiva tipo 2 ","Epilepsia miocl\u00f3nica progresiva, tipo Lafora"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/lafora-disease\/"},{"id":"145702","title":"TCF7L2-Related Neurodevelopmental Disorder *","synonyms":["TRND"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/tcf7l2\/"},{"id":"153121","title":"Trastorno del neurodesarrollo relacionado con TCF7L2 *","synonyms":["TRND"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/145702\/"},{"id":"146101","title":"HNRNPU-Related Disorder *","synonyms":["developmental and epileptic encephalopathy 54"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hnrnpu-related-disorder\/"},{"id":"153217","title":"Trastorno relacionado a HNRNPU *","synonyms":["Encefalopat\u00eda del desarrollo y epil\u00e9ptica 54"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/hnrnpu-related-disorder\/"},{"id":"147175","title":"Deficiencia de tirosina hidroxilasa *","synonyms":["Diston\u00eda dopa-sensible autos\u00f3mica recesiva","pDYT5b","Diston\u00eda dopa-sensible deficiente en tirosina hidroxilasa","S\u00edndrome de Segawa autos\u00f3mico recesivo"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/deficiencia-de-tirosina-hidroxilasa\/"},{"id":"150495","title":"Amiloidosis *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/amiloidosis\/"},{"id":"150853","title":"PRRT2-Associated Paroxysmal Movement Disorders *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/prrt2-associated-paroxysmal-movement-disorders\/"},{"id":"151219","title":"Trastornos del movimiento parox\u00edstico asociados con PRRT2 *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/prrt2-associated-paroxysmal-movement-disorders\/"},{"id":"150898","title":"Wiedemann-Steiner Syndrome *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/wiedemann-steiner-syndrome\/"},{"id":"153081","title":"S\u00edndrome de Wiedemann-Steiner *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/wiedemann-steiner-syndrome\/"},{"id":"152960","title":"Epilepsy with Eyelid Myoclonia *","synonyms":["Eyelid myoclonia with or without absence","Jeavons syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/epilepsy-with-eyelid-myoclonia\/"},{"id":"153586","title":"Epilepsia con mioclon\u00eda palpebral *","synonyms":["Mioclon\u00eda palpebral con o sin crisis de ausencia ","S\u00edndrome de Jeavons"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/epilepsy-with-eyelid-myoclonia\/"},{"id":"152962","title":"TANC2-Related Disorders *","synonyms":["intellectual developmental disorder with autistic features and language delay, with or without seizures"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/tanc2-related-disorders\/"},{"id":"153037","title":"Trastornos relacionados con TANC2 *","synonyms":["Trastorno del desarrollo intelectual con caracter\u00edsticas autistas y retraso del lenguaje, con o sin convulsiones"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/tanc2-related-disorders\/"},{"id":"153230","title":"WDR26-Related Disorder *","synonyms":["WDR26-Related Disorder","Skraban-Deardorff syndrome","SKDEAS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/wdr26-related-disorder\/"},{"id":"153571","title":"Trastorno relacionado con WDR26 *","synonyms":["Discapacidad intelectual relacionada con WDR26 ","S\u00edndrome de Skraban-Deardorff ","SKDEAS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/wdr26-related-disorder\/"},{"id":"153706","title":"Okur-Chung Neurodevelopmental Syndrome *","synonyms":["OCNDS","<em>CSNK2A1<\/em>-related disorder"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/okur-chung-neurodevelopmental-syndrome\/"},{"id":"176179","title":"S\u00edndrome del neurodesarrollo de Okur-Chung *","synonyms":["OCNDS","Trastorno relacionado con CSNK2A1"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/okur-chung-neurodevelopmental-syndrome\/"},{"id":"184097","title":"Kleefstra Syndrome *","synonyms":["9q-syndrome","9q34.3 deletion syndrome","chromosome 9q deletion syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/kleefstra-syndrome\/"},{"id":"242851","title":"Posterior Urethral Valves *","synonyms":["PUV"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/242851\/"},{"id":"270959","title":"V\u00e1lvulas uretrales posteriores *","synonyms":["PUV"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/242851\/"},{"id":"253869","title":"Drug Reaction with Eosinophilia and Systemic Symptoms (DReSS) *","synonyms":["DReSS syndrome","DRESS syndrome","drug rash with eosinophilia and systemic symptoms","drug induced hypersensitivity syndrome (DIHS)","drug-induced pseudolymphoma","drug-induced delayed multiorgan hypersensitivity syndrome (DIDMOHS)","drug hypersensitivity syndrome (DHS)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/drug-reaction-with-eosinophilia-and-systemic-symptoms-dress\/"},{"id":"253975","title":"Reacci\u00f3n a medicamentos con eosinofilia y s\u00edntomas sist\u00e9micos *","synonyms":["Erupci\u00f3n por f\u00e1rmacos con eosinofilia y s\u00edntomas sist\u00e9micos ","S\u00edndrome DRESS","Reacci\u00f3n a medicamentos con eosinofilia y s\u00edntomas sist\u00e9micos "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/drug-reaction-with-eosinophilia-and-systemic-symptoms-dress\/"},{"id":"253998","title":"Muenke Syndrome *","synonyms":["FGFR3-related craniosynostosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/muenke-syndrome\/"},{"id":"254104","title":"S\u00edndrome de Muenke *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/muenke-syndrome\/"},{"id":"254013","title":"Beta-Mannosidosis *","synonyms":["beta-D-mannosidosis","beta-mannosidase deficiency","mannosidosis, beta A, lysosomal","lysosomal beta-mannosidase deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/beta-mannosidosis\/"},{"id":"260487","title":"Beta-manosidosis *","synonyms":["Beta-D-manosidosis ","Deficiencia de beta-manosidasa ","Manosidosis, beta A, lisosomal ","Deficiencia de betamanosidasa lisosomal"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/beta-mannosidosis\/"},{"id":"254208","title":"Tarsal Carpal Coalition Syndrome *","synonyms":["NOG-related-symphalangism spectrum disorder","TCC"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/254208\/"},{"id":"254321","title":"S\u00edndrome de coalici\u00f3n tarso-carpiana *","synonyms":["S\u00edndrome con coalici\u00f3n tarso-carpal ","Trastorno del espectro del sifalangismo relacionado con NOG ","TCC"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/254208\/"},{"id":"254209","title":"Malan Syndrome *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/malan-syndrome\/"},{"id":"254249","title":"S\u00edndrome de Malan *","synonyms":["S\u00edndrome de sobrecrecimiento de Malan"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/malan-syndrome\/"},{"id":"254933","title":"SETD1B-Related Neurodevelopmental Disorder *","synonyms":["<em>SETD1B<\/em>-NDD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/setd1b-related-neurodevelopmental-disorder\/"},{"id":"254942","title":"Ocular Albinism with Late Onset Sensorineural Deafness *","synonyms":["OASD","ocular albinism with sensorineural deafness","deafness and ocular albinism"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ocular-albinism-with-late-onset-sensorineural-deafness\/"},{"id":"260435","title":"Albinismo ocular con sordera neurosensorial tard\u00eda *","synonyms":["OASD","Albinismo ocular con hipoacusia neurosensorial tard\u00eda ","Albinismo ocular con sordera neurosensorial ","Sordera y albinismo ocular"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/ocular-albinism-with-late-onset-sensorineural-deafness\/"},{"id":"255607","title":"Rhizomelic Chondrodysplasia Punctata *","synonyms":["RCDP"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/rhizomelic-chondrodysplasia-punctata\/"},{"id":"260405","title":"Condrodisplasia punctata rizom\u00e9lica *","synonyms":["RCDP"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/rhizomelic-chondrodysplasia-punctata\/"},{"id":"256570","title":"Trigeminal Trophic Syndrome *","synonyms":["TTS","trigeminal neurotrophic ulceration","trigeminal neuropathy with nasal ulceration","trophic ulceration of the ala nasi","ulceration en arc"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/trigeminal-trophic-syndrome\/"},{"id":"259097","title":"S\u00edndrome tr\u00f3fico del trig\u00e9mino *","synonyms":["TTS","S\u00edndrome tr\u00f3fico trigeminal ","Ulceraci\u00f3n neurotr\u00f3fica del trig\u00e9mino ","Neuropat\u00eda del trig\u00e9mino con ulceraci\u00f3n nasal","Ulceraci\u00f3n tr\u00f3fica del ala nasi ","Ulceraci\u00f3n en arco"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/trigeminal-trophic-syndrome\/"},{"id":"256573","title":"Laryngotracheoesophageal Cleft *","synonyms":["laryngeal cleft","laryngotracheal cleft (LC)","LTEC","laryngo-tracheo-esophageal cleft","laryngo-tracheo-esophageal diastema","posterior laryngeal cleft (PLC)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/laryngotracheoesophageal-cleft\/"},{"id":"258747","title":"Hendidura laringotraqueoesof\u00e1gica *","synonyms":["Hendidura lar\u00edngea ","Hendidura laringotraqueal ","Diastema laringotraqueoesof\u00e1gica ","Hendidura laringo-traqueo-esof\u00e1gica","LTEC"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/laryngotracheoesophageal-cleft\/"},{"id":"256574","title":"Hinman Syndrome *","synonyms":["Hinman-Allen syndrome","non-neurogenic neurogenic bladder","occult neuropathic bladder","dysfunctional voiding"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hinman-syndrome\/"},{"id":"270999","title":"S\u00edndrome de Hinman *","synonyms":["S\u00edndrome de Hinman-Allen ","Vejiga neurog\u00e9nica no neurog\u00e9nica ","Vejiga neurop\u00e1tica oculta ","Micci\u00f3n disfuncional"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/hinman-syndrome\/"},{"id":"256595","title":"Imagawa-Matsumoto Syndrome *","synonyms":["IMMAS","SUZ12-related overgrowth disorder","SUZ12-related overgrowth","SUZ12-related neurodevelopmental disorder"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/imagawa-matsumoto-syndrome\/"},{"id":"259733","title":"S\u00edndrome de Imagawa-Matsumoto *","synonyms":["IMMAS","Trastorno de crecimiento excesivo relacionado con SUZ12 ","Crecimiento excesivo relacionado con SUZ12 ","Trastorno del desarrollo neurol\u00f3gico relacionado con SUZ12"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/imagawa-matsumoto-syndrome\/"},{"id":"256597","title":"SYNCRIP-Related Neurodevelopmental Disorder *","synonyms":["SYNCRIP-RNDD","HNRNPQ-RNDD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/syncrip-related-neurodevelopmental-disorder\/"},{"id":"258636","title":"Trastorno del neurodesarrollo relacionado con SYNCRIP *","synonyms":["SYNCRIP-RNDD","HNRNPQ-RNDD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/syncrip-related-neurodevelopmental-disorder\/"},{"id":"256770","title":"IQSEC2-Related Disorder *","synonyms":["IQSEC2-related encephalopathy","X-linked intellectual disability 1\/78","IQSEC2-related epilepsy","IQSEC2-related intellectual disability","X-linked intellectual disability 1","X-linked intellectual disability 78"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/iqsec2-related-disorder\/"},{"id":"258437","title":"Trastorno relacionado con IQSEC2 *","synonyms":["Encefalopat\u00eda relacionada con IQSEC2 ","Epilepsia relacionada con IQSEC2 ","Discapacidad intelectual relacionada con IQSEC2 ","Discapacidad intelectual ligada al cromosoma X 1 ","Discapacidad intelectual ligada al cromosoma X tipo 1 ","Discapacidad intelectual ligada al cromosoma X 78 ","Discapacidad intelectual ligada al cromosoma X tipo 78","Discapacidad intelectual ligada al X 1\/78 "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/iqsec2-related-disorder\/"},{"id":"258163","title":"Multicentric Osteolysis Nodulosis and Arthropathy Spectrum *","synonyms":["MONA spectrum"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/multicentric-osteolysis-nodulosis-and-arthropathy-spectrum\/"},{"id":"258405","title":"Espectro oste\u00f3lisis multic\u00e9ntrica-nodulosis-artropat\u00eda *","synonyms":["Espectro MONA"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/multicentric-osteolysis-nodulosis-and-arthropathy-spectrum\/"},{"id":"258596","title":"Recessive Titinopathy *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/recessive-titinopathy\/"},{"id":"258821","title":"Titinopat\u00eda recesiva *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/recessive-titinopathy\/"},{"id":"259166","title":"Cohen-Gibson Syndrome *","synonyms":["EED-related overgrowth","EED-related neurodevelopmental disorder"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cohen-gibson-syndrome\/"},{"id":"259723","title":"S\u00edndrome de Cohen-Gibson *","synonyms":["Crecimiento excesivo relacionado con la EED ","S\u00edndrome de sobrecrecimiento asociado al gen EED","Trastorno del neurodesarrollo relacionado con EED"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/cohen-gibson-syndrome\/"},{"id":"259193","title":"Arthrogryposis Renal Dysfunction Cholestasis Syndrome *","synonyms":["ARC"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/arthrogryposis-renal-dysfunction-cholestasis-syndrome\/"},{"id":"259750","title":"S\u00edndrome de colestasis, disfunci\u00f3n renal, artrogriposis *","synonyms":["ARC"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/arthrogryposis-renal-dysfunction-cholestasis-syndrome\/"},{"id":"259242","title":"GNB1-Related Disorder *","synonyms":["global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome ","intellectual developmental disorder, autosomal dominant 42 ","autosomal dominant intellectual developmental disorder-42 ","MRD42 ","GNB1 encephalopathy ","autosomal dominant intellectual disability 42 ","autosomal dominant non-syndromic intellectual disability 42 ","autosomal dominant non-syndromic intellectual disability caused by mutation in GNB1 ","GNB1 autosomal dominant non-syndromic intellectual disability ","GNB1-related neurodevelopmental disorder ","intellectual developmental disorder, autosomal dominant 42 ","intellectual disability, autosomal dominant 42 ","intellectual disability, autosomal dominant type 42 ","GNB1 syndrome "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/gnb1-related-disorder\/"},{"id":"259707","title":"Trastorno relacionado con GNB1 *","synonyms":["S\u00edndrome de retraso global del desarrollo-anomal\u00edas neuro-oftalmol\u00f3gicas-crisis-discapacidad intelectual ","Desorden del Desarrollo y deficiencia intelectual 42 ","Trastorno del desarrollo intelectual autos\u00f3mico dominante-42 ","Encefalopatia GNB1","S\u00edndrome GNB1","MRD42 "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/gnb1-related-disorder\/"},{"id":"259442","title":"Molybdenum Cofactor Deficiency *","synonyms":["combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase ","encephalopathy due to sulfite oxidase deficiency","combined molybdoflavoprotein enzyme deficiency","combined xanthine oxidase and sulfite oxidase and aldehyde oxidase deficiency","deficiency of molybdenum cofactor"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/molybdenum-cofactor-deficiency-mocd\/"},{"id":"259694","title":"Deficiencia de cofactor de molibdeno *","synonyms":["Deficiencia de sulfito oxidasa por deficiencia del cofactor molibdeno ","MoCD "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/molybdenum-cofactor-deficiency-mocd\/"},{"id":"259467","title":"Ogden Syndrome *","synonyms":["NAA10-related neurodevelopmental syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ogden-syndrome\/"},{"id":"259669","title":"S\u00edndrome de Ogden *","synonyms":["S\u00edndrome del neurodesarrollo relacionado con NAA10"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/ogden-syndrome\/"},{"id":"259522","title":"TLK2-Related Neurodevelopmental Disorder *","synonyms":["intellectual disability, autosomal dominant 57","intellectual developmental disorder, autosomal dominant 57 ","TLK2-related syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/tlk2-related-neurodevelopmental-disorder\/"},{"id":"259655","title":"Trastorno del neurodesarrollo relacionado con TLK2 *","synonyms":["Discapacidad intelectual, autos\u00f3mica dominante 57 ","Trastorno del desarrollo intelectual, autos\u00f3mico dominante 57 ","S\u00edndrome relacionado con TLK2"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/tlk2-related-neurodevelopmental-disorder\/"},{"id":"259548","title":"Enthesitis-Related Juvenile Idiopathic Arthritis *","synonyms":["ERA","juvenile spondyloarthropathy","juvenile enthesitis-related arthritis","enthesitis related arthritis, juvenile","enthesitis-related arthritis","enthesitis-related JIA"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/enthesitis-related-juvenile-idiopathic-arthritis\/"},{"id":"259653","title":"Artritis idiop\u00e1tica juvenil asociada a entesitis *","synonyms":["AIJ asociada a entesitis ","ARE juvenil"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/enthesitis-related-juvenile-idiopathic-arthritis\/"},{"id":"259691","title":"Sphingosine Phosphate Lyase Insufficiency Syndrome *","synonyms":["primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency","SPL insufficiency syndrome","SPLIS","familial steroid-resistant nephrotic syndrome","nephrotic syndrome type 14"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/sphingosine-phosphate-lyase-insufficiency-syndrome\/"},{"id":"260020","title":"S\u00edndrome de insuficiencia de liasa de fosfato de esfingosina *","synonyms":["S\u00edndrome nefr\u00f3tico de insuficiencia suprarrenal primaria resistente a esteroides debido a deficiencia de SGPL1 ","S\u00edndrome de insuficiencia SPL ","SPLIS ","S\u00edndrome nefr\u00f3tico familiar resistente a esteroides ","S\u00edndrome nefr\u00f3tico tipo 14 ","S\u00edndrome de insuficiencia de liasa de fosfato de esfingosina","S\u00edndrome nefr\u00f3tico resistente a esteroides-insuficiencia suprarrenal primaria por deficiencia de SGPL1 ","S\u00edndrome nefr\u00f3tico resistente a esteroides con insuficiencia suprarrenal familiar"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/sphingosine-phosphate-lyase-insufficiency-syndrome\/"},{"id":"259693","title":"ZTTK Syndrome *","synonyms":["Zhu-Tokita-Takenouchi-Kim syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/zttk-syndrome\/"},{"id":"259701","title":"S\u00edndrome ZTTK *","synonyms":["S\u00edndrome Zhu-Tokita-Takenouchi-Kim"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/zttk-syndrome\/"},{"id":"259840","title":"Familial Mediterranean Fever *","synonyms":["familial paroxysmal polyserositis","FMF","recurrent polyserositis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/familial-mediterranean-fever\/"},{"id":"259897","title":"5,10 \u2013 Methenyltetrahydrofolate Synthetase Deficiency *","synonyms":["neurodevelopmental disorder with microcephaly, epilepsy and hypomyelination","NEDMEHM","MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/510-methenyltetrahydrofolate-synthetase-deficiency\/"},{"id":"260051","title":"S\u00edndrome de retraso del desarrollo-microcefalia-talla baja-epilepsia asociado al gen MTHFS *","synonyms":["Deficiencia de MTHFS","Trastorno del desarrollo neurol\u00f3gico con microcefalia, epilepsia e hipomielinizaci\u00f3n ","NEDMEHM ","S\u00edndrome de retraso del desarrollo, microcefalia, baja estatura y epilepsia relacionado con MTHFS"," Deficiencia de 5,10 \u2013 meteniltetrahidrofolato sintetasa"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/510-methenyltetrahydrofolate-synthetase-deficiency\/"},{"id":"260099","title":"Hemolytic Disease of the Fetus and Newborn *","synonyms":["maternal alloimmunization","Rh disease","isoimmunization","erythroblastosis fetalis","fetal erythroblastosis","HDFN"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/hemolytic-disease-of-the-fetus-and-newborn\/"},{"id":"260213","title":"White-Sutton Syndrome *","synonyms":["POGZ-related intellectual disability","intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome","autosomal dominant intellectual disability 37","MRD37","WHSUS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/white-sutton-syndrome\/"},{"id":"273878","title":"S\u00edndrome de White-Sutton *","synonyms":["Discapacidad intelectual relacionada con POGZ ","S\u00edndrome de discapacidad intelectual-microcefalia-estrabismo-trastornos de conducta ","Discapacidad intelectual autos\u00f3mica dominante 37"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/white-sutton-syndrome\/"},{"id":"260348","title":"Dominant Titinopathy *","synonyms":["TTN-related dilated cardiomyopathy (DCM)","cardiomyopathy, dilated, 1G","cardiomyopathy, familial hypertrophic, 9","hereditary myopathy with early respiratory failure (HMERF)","myopathy, myofibrillar, 9, with early respiratory failure","tibial muscular dystrophy (TMD, Udd myopathy)","tibial muscular dystrophy, tardive"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/dominant-titinopathy\/"},{"id":"260375","title":"Titinopat\u00eda dominante *","synonyms":["Miocardiopat\u00eda dilatada (MCD) relacionada con TTN"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/dominant-titinopathy\/"},{"id":"260467","title":"Obstructive Hypertrophic Cardiomyopathy *","synonyms":["idiopathic hypertrophic subaortic stenosis","hypertrophic myocardiopathy","hypertrophic obstructive cardiomyopathy","familial hypertrophic cardiomyopathy","oHCM"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/obstructive-hypertrophic-cardiomyopathy\/"},{"id":"270815","title":"Miocardiopat\u00eda hipertr\u00f3fica obstructiva *","synonyms":["Estenosis suba\u00f3rtica hipertr\u00f3fica idiop\u00e1tica ","Miocardiopat\u00eda hipertr\u00f3fica ","Miocardiopat\u00eda hipertr\u00f3fica obstructiva ","Miocardiopat\u00eda hipertr\u00f3fica familiar ","MCOH"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/obstructive-hypertrophic-cardiomyopathy\/"},{"id":"271207","title":"Beck-Fahrner Syndrome *","synonyms":["BEFAHRS","<em>TET3<\/em>-BEFAHRS","<em>TET3<\/em> deficiency","<em>TET3<\/em>-related Beck-Fahrner syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/beck-fahrner-syndrome\/"},{"id":"271433","title":"S\u00edndrome de Beck-Fahrner *","synonyms":["BEFAHRS","Discapacidad intelectual-dismorfismo facial-hipermobillidad articular-sordera","TET3-BEFAHRS ","Deficiencia de TET3 ","S\u00edndrome de Beck-Fahrner relacionado con TET3"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/beck-fahrner-syndrome\/"},{"id":"271248","title":"Generalized Pustular Psoriasis *","synonyms":["generalized pustular psoriasis of von Zumbusch ","Von Zumbusch psoriasis ","pustular psoriasis (not localized to palms and soles)","impetigo herpetiformis "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/generalized-pustular-psoriasis\/"},{"id":"271504","title":"Psoriasis Pustulosa Generalizada *","synonyms":["Psoriasis pustulosa generalizada de von Zumbusch "," Psoriasis de Von Zumbusch ","Psoriasis pustulosa (no localizada en palmas y plantas)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/generalized-pustular-psoriasis\/"},{"id":"271219","title":"Bent Bone Dysplasia Syndrome *","synonyms":["FGFR2-related bent bone dysplasia","FGFR2-related bent bone dysplasia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/bent-bone-dysplasia-syndrome\/"},{"id":"271331","title":"Ovarian Remnant Syndrome *","synonyms":["ORS","ovarian remnant","ovarian retention syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ovarian-remnant-syndrome\/"},{"id":"271527","title":"S\u00edndrome de ovario remanente *","synonyms":["ORS","Remanente ov\u00e1rico ","S\u00edndrome del remanente ov\u00e1rico ","S\u00edndrome de retenci\u00f3n ov\u00e1rica"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/ovarian-remnant-syndrome\/"},{"id":"271409","title":"Primrose Syndrome *","synonyms":["ossified ear cartilages with mental deficiency, muscle wasting and bony changes ","intellectual disability-cataracts-calcified pinnae-myopathy syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/primrose-syndrome\/"},{"id":"271426","title":"S\u00edndrome de Primrose *","synonyms":["S\u00edndrome de discapacidad intelectual-catarata-pabell\u00f3n auditivo calcificado-miopat\u00eda","Cart\u00edlagos de la oreja osificados con deficiencia mental, atrofia muscular y cambios \u00f3seos "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/primrose-syndrome\/"},{"id":"271476","title":"TRMU Deficiency *","synonyms":["TRMU-related reversible infantile respiratory chain deficiency","TRMU-related mitochondrial hepatopathy","TRMU-related reversible infantile liver failure","acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins","acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins","acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins","acute infantile liver failure","infantile liver failure caused by mutation in TRMU","LFIT","liver failure, infantile, transient","liver failure, transient infantile","transient infantile liver failure","TRMU infantile liver failure"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/trmu-deficiency\/"},{"id":"271873","title":"Deficiencia de TRMU *","synonyms":["Insuficiencia hep\u00e1tica infantil aguda debido a un defecto de s\u00edntesis de prote\u00ednas codificadas por ADNmt ","Insuficiencia hep\u00e1tica infantil aguda debido a un defecto de s\u00edntesis de prote\u00ednas codificadas por ADN mitocondrial ","Insuficiencia hep\u00e1tica infantil aguda debido a un defecto de s\u00edntesis de prote\u00ednas codificadas por ADNmt ","Insuficiencia hep\u00e1tica infantil aguda ","Insuficiencia hep\u00e1tica infantil causada por mutaci\u00f3n en TRMU ","LFIT"," Insuficiencia hep\u00e1tica infantil transitoria ","Insuficiencia hep\u00e1tica infantil transitoria","Insuficiencia hep\u00e1tica infantil TRMU"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/trmu-deficiency\/"},{"id":"271477","title":"DNM1-Related Epilepsy and Neurodevelopmental Disorder *","synonyms":["DNM1 encephalopathy","DNM1 neurodevelopmental disorder","DNM1-related epilepsy and neurodevelopmental disorder","developmental and epileptic encephalopathy, 31","developmental and epileptic encephalopathy 31A, autosomal dominant","DEE31","epileptic encephalopathy, early infantile, 31","EIEE31","early infantile epileptic encephalopathy 31","autosomal dominant developmental and epileptic encephalopathy 31A"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/271477\/"},{"id":"271491","title":"Trastorno del neurodesarrollo y epilepsia relacionados con DNM1 *","synonyms":["Encefalopat\u00eda DNM1"," Trastorno del neurodesarrollo DNM1 ","Epilepsia y trastorno del neurodesarrollo relacionados con DNM1","Encefalopat\u00eda epil\u00e9ptica y del desarrollo autos\u00f3mica dominante 31A","DEE31","Encefalopat\u00eda epil\u00e9ptica infantil temprana 31 ","EIEE31"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/271477\/"},{"id":"271498","title":"TRPM3-Related Neurodevelopmental Disorder *","synonyms":["TRPM3-NDD","neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures ","NEDFSS "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/trpm3-related-neurodevelopmental-disorder\/"},{"id":"271523","title":"Trastorno del neurodesarrollo relacionado con TRPM3 *","synonyms":["TRPM3-NDD","\u2022\tTrastorno del neurodesarrollo con hipoton\u00eda, rasgos faciales dism\u00f3rficos y anomal\u00edas esquel\u00e9ticas, con o sin convulsiones","NEDFSS "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/trpm3-related-neurodevelopmental-disorder\/"},{"id":"271599","title":"Progestogen Hypersensitivity *","synonyms":["autoimmune progesterone dermatitis","progesterone allergy","progesterone hypersensitivity"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/progestogen-hypersensitivity\/"},{"id":"273613","title":"Hipersensibilidad a los progest\u00e1genos *","synonyms":["Hipersensibilidad 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