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X linked Lymphoproliferative Syndrome - Symptoms, Causes, Treatment | NORD
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} .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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margin:0 !important; padding:0 !important } .nord-rare-giving-list { display:flex; flex-wrap:wrap } .membership-level-wrap { h4 { font-size:1.1rem; } } .page-id-147 .fcl-3-columns-content .col-content-wrapper:nth-of-type(5) { flex-basis:33.3%; } /*-- RCC LOGO GRID --*/ .logo-grid { display:flex; flex-wrap:wrap; > a { display:inline-flex; width:25%; padding:1rem; height:175px; img { height:100%; width:100%; object-fit:contain; } @media screen and (max-width:769px) { width:50%; } } } /* --- STUDENTS FOR RARE --- */ .nord-posts-list { margin:0; padding:0; list-style-type:none; display:flex; flex-wrap:wrap; > li { display:inline-flex; padding:1rem; border:1px solid #dedede; width:calc(100% / 4); } } .logo-grid { margin:0; padding:0; list-style-type:none; display:flex; flex-wrap:wrap; > a { display:inline-flex; padding:1rem; border:1px solid #dedede; width:calc(100% / 4); } } /* ------- UPDATES SIDEBAR AD STYLES ------ */ .ad-content { margin-bottom:1.25rem; } /* -- fix mobile single post 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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> <!-- End Google Tag Manager --> <script name="rare-disease-schema-gpt" type="application/ld+json">{"@context":"https://schema.org/","@type":"MedicalCondition","name":"X-Linked Lymphoproliferative Syndrome","url":"https://rarediseases.org/rare-diseases/x-linked-lymphoproliferative-syndrome/","description":"X-Linked Lymphoproliferative Syndrome is a rare genetic disorder that affects the immune system, leading to an abnormal response to certain viral infections.","associatedAnatomy":{"@type":"AnatomicalStructure","name":"Immune System"},"possibleTreatment":"Treatment for X-Linked Lymphoproliferative Syndrome may include antiviral medications, immunoglobulin therapy, and bone marrow transplant.","signOrSymptom":"Symptoms of X-Linked Lymphoproliferative Syndrome may include fever, swollen lymph nodes, liver and spleen enlargement, and low blood cell counts.","differentialDiagnosis":"X-Linked Lymphoproliferative Syndrome should be differentiated from other immune system disorders such as lymphoma and leukemia.","riskFactor":"X-Linked Lymphoproliferative Syndrome is a genetic disorder that is inherited in an X-linked recessive pattern.","diagnosis":"Diagnosis of X-Linked Lymphoproliferative Syndrome may involve genetic testing, blood tests, and imaging studies.","medicalCode":"ICD-10: D82.4"}</script></head> <body class="rare-diseases-template-default single single-rare-diseases postid-1865 wp-custom-logo tribe-no-js tribe-theme-nord"> <!-- Google Tag Manager (noscript) --> <noscript><iframe src="https://www.googletagmanager.com/ns.html?id=GTM-5DKMZF5" height="0" width="0" style="display:none;visibility:hidden"></iframe></noscript> <!-- End Google Tag Manager (noscript) --> <!-- Vimeo for Google Tag Manager --> <script type="text/javascript" defer="defer" src="https://extend.vimeocdn.com/ga/62965648.js"></script> <!-- End Vimeo 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class="ubermenu-target ubermenu-item-layout-default ubermenu-item-layout-text_only" href="https://rarediseases.org/christinas-lease-on-life/"><span class="ubermenu-target-title ubermenu-target-text">Patient stories</span></a><ul class="ubermenu-submenu ubermenu-submenu-id-10509 ubermenu-submenu-type-auto ubermenu-submenu-type-stack" ><li id="menu-item-10507" class="nav-img-block ubermenu-item ubermenu-item-type-custom ubermenu-item-object-custom ubermenu-level-6 ubermenu-item-10507 ubermenu-item-auto ubermenu-item-normal ubermenu-item-level-6 ubermenu-column ubermenu-column-auto" ><a class="ubermenu-target ubermenu-target-with-image ubermenu-item-layout-image_above" href="https://rarediseases.org/christinas-lease-on-life/"><img class="ubermenu-image ubermenu-image-size-full" src="https://rarediseases.org/wp-content/uploads/2022/06/Post-DBS-op-Me-eating-McDonalds-and-Loving-it-e1652280852247.jpg" srcset="https://rarediseases.org/wp-content/uploads/2022/06/Post-DBS-op-Me-eating-McDonalds-and-Loving-it-e1652280852247.jpg 554w, https://rarediseases.org/wp-content/uploads/2022/06/Post-DBS-op-Me-eating-McDonalds-and-Loving-it-e1652280852247-300x281.jpg 300w" sizes="(max-width: 554px) 100vw, 554px" width="554" height="518" alt="Person enjoying McDonald's after DBS surgery." /><span class="ubermenu-target-title ubermenu-target-text">Christina’s Lease on Life</span></a></li><li id="menu-item-10510" class="ubermenu-button ubermenu-pad ubermenu-item ubermenu-item-type-custom ubermenu-item-object-custom ubermenu-level-6 ubermenu-item-10510 ubermenu-item-auto ubermenu-item-normal ubermenu-item-level-6 ubermenu-column ubermenu-column-auto" ><a class="ubermenu-target ubermenu-item-layout-default ubermenu-item-layout-text_only" href="https://rarediseases.org/christinas-lease-on-life/"><span class="ubermenu-target-title ubermenu-target-text">Read 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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="headline-wrapper"> <h1 class="single-headline">X linked Lymphoproliferative Syndrome</h1> <a href="#" class="full-report print-link more-link js-print-link color-br-blue">Print</a> </div> <div> <p> <em>Last updated: September 23, 2007 </em> <br/> <em>Years published: 1989, 1995, 1997, 1998, 1999, 2006, 2007</em> </p> <hr/> </div> <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>X-linked lymphoproliferative (XLP) syndrome is an extremely rare inherited (primary) immunodeficiency disorder characterized by a defective immune system that is powerfully responsive to infection with the Epstein-Barr virus (EBV). This virus is common among the general population and is relatively well-known because it is the cause of infectious mononucleosis (IM), usually with no long-lasting effects. However, in individuals with XLP, exposure to EBV may result in severe, life-threatening fulminant hepatitis; abnormally low levels of antibodies in the blood and body secretions (hypogammaglobulinemia), resulting in increased susceptibility to various infections; malignancies of certain types of lymphoid tissue (B-cell lymphomas); and/or other abnormalities. The range of symptoms and findings associated with XLP may vary considerably from case to case. In addition, the range of effects may change in an affected individual over time. In most cases, individuals with XLP experience an onset of symptoms anytime from ages about 6 months to 10 years of age.</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>Duncan Disease</li> <li>EBV Susceptibility (EBVS)</li> <li>Epstein-Barr Virus-Induced Lymphoproliferative Disease in Males</li> <li>Immunodeficiency-5 (IMD5)</li> <li>Purtilo Syndrome</li> <li>X-Linked Progressive Combined Variable Immunodeficiency</li> <li>XLP</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>X-linked lymphoproliferative syndrome (XLP), an extremely rare inherited disorder, is characterized by a range of symptoms and findings that occur due to a defective immune system response to infection with the Epstein-Barr virus (EBV). This virus is common among the general population and usually infects “silently,” causing no apparent symptoms (asymptomatic). In some other cases, particularly during adolescence, EBV infection may cause infectious mononucleosis (IM), usually with no long-lasting effects (benign, self-limited IM). However, males with XLP who are exposed to Epstein-Barr virus may develop severe, life-threatening hepatic (liver) form infectious mononucleosis and hepatitis, abnormally low levels of antibodies or immunoglobulins (hypogammaglobulinemia) in the blood and body secretions, malignancies of certain types of lymphoid tissue (B-cell lymphomas), or other abnormalities.</p> <p>Approximately half of individuals with X-linked lymphoproliferative syndrome experience severe, life-threatening mononucleosis characterized by fever, inflammation and soreness of the throat (pharyngitis), swollen lymph glands, enlargement of the spleen (splenomegaly), enlargement of the liver (hepatomegaly), and/or abnormal functioning of the liver, resulting in yellowing of the skin, mucous membranes, and whites of the eyes (jaundice or icterus). In some cases, individuals who experience life-threatening mononucleosis infection may subsequently have an abnormal increase (i.e., proliferation) of certain white blood cells (lymphocytes and histiocytes) in particular organs, severe liver damage and/or failure, damage to the blood-cell generating bone marrow (hematopoietic marrow cells) that may result in aplastic anemia, and/or other symptoms that may result in life-threatening complications in affected children or adults. Aplastic anemia is characterized by a marked deficiency of all types of blood cells (pancytopenia) including low levels of red blood cells, certain white blood cells, and platelets, specialized red blood cells that function to assist appropriate blood clotting. In individuals with XLP, a decrease in platelets (thrombocytopenia) results in increased susceptibility to bruising and excessive bleeding (hemorrhaging). Because X-linked lymphoproliferative syndrome is inherited as an X-linked recessive genetic trait, the disorder is usually fully expressed in males only.</p> <p>X-linked lymphoproliferative syndrome is considered a rare primary immunodeficiency disorder; one of a group of disorders characterized by irregularities in the cell development and/or cell maturation process of the immune system. The immune system is divided into several components, the combined actions of which are responsible for defending against different infectious agents (i.e., invading microscopic life-forms). The T-cell system (cell-mediated immune response) is responsible for fighting yeast and fungi, several viruses, and some bacteria. The B-cell system (humoral immune response) fights infection caused by other viruses and bacteria by secreting immune factors called antibodies or immunoglobulins into the blood and body secretions (e.g., saliva). Antibodies can kill microorganisms or “coat” them so they are more easily destroyed by certain white blood cells. White blood cells (leukocytes) are part of the body’s immune system, playing an essential role in protecting against infection as well as fighting infection once it occurs. In addition, antibodies are produced following vaccination, providing protection from infectious diseases like polio, measles, and tetanus. The immune deficiency in XLP affects both T-cell and B-cell immune responses and therefore is classified as a “combined immunodeficiency.”</p> <p>According to the medical literature, either directly after EBV exposure or following infectious mononucleosis, approximately one third of males with XLP may begin to exhibit abnormally low levels of antibodies (immunoglobulins) in the blood and body secretions (acquired hypogammaglobulinemia). As with bone marrow suppression, low levels of protective antibodies in the blood and body secretions may result in an increased susceptibility to various “opportunistic” infections.</p> <p>In addition, approximately one fourth of males with XLP may develop malignancies of certain types of lymphoid tissue (B-cell lymphomas) subsequent to EBV exposure or development of infectious mononucleosis. Such lymphomas are characterized by malignant transformation of abnormally proliferating B cells. Burkitt’s Lymphoma involving the area where the small intestine joins the large intestine (ileocecal area) is the most commonly reported B-cell lymphoma among affected males. Symptoms and findings associated with Burkitt’s Lymphoma involving the intestines may include abdominal swelling (distention) and discomfort, impaired absorption of nutrients by the gastrointestinal (GI) tract (malabsorption), nausea, vomiting, changes in bowel habits, weakness, and/or weight loss.</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>X-linked lymphoproliferative syndrome (XLP) is inherited as an X-linked recessive genetic trait. The gene map location of the altered (mutated) has been tracked to a site at Xq25. The genetic trait is transmitted in an X-linked recessive mode as a result of which it is nearly always fatal to the male fetus or to male babies.</p> <p>Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome Xq25” refers to band 25 on the long arm of the X chromosome. The numbered bands specify the location of the thousands of genes that are present on each chromosome.</p> <p>Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. All individuals carry 4-5 abnormal genes. Parents who are close relatives (consan-guineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.</p> <p>Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.</p> <p>X-linked recessive genetic disorders are conditions caused by an abnormal gene on the X chromosome. Females have two X chromosomes but one of the X chromosomes is “turned off” and all of the genes on that chromosome are inactivated. Females who have a disease gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display symptoms of the disorder because it is usually the X chromosome with the abnormal gene that is “turned off”. A male has one X chromosome and if he inherits an X chromosome that contains a disease gene, he will develop the disease. Males with X-linked disorders pass the disease gene to all of their daughters, who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male offspring. Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease, and a 25% chance to have an unaffected son.</p> <p>The gene responsible for XLP is called “SH2D1A.” Certain abnormal changes (mutations) in or deletions of material from the gene may result in X-linked lymphoproliferative syndrome in affected individuals. Researchers have determined that the gene encodes a unique protein called “SAP” that regulates another protein known as “SLAM.” SLAM, which stands for “signaling lymphocyte activation molecule,” controls communication between B cells and T cells. It is suspected that, in individuals with XLP, uncontrolled functioning of the SLAM protein causes improper communication between these immune cells, resulting in an abnormal immune response following EBV infection.</p> <p>There have been a few reports in the medical literature in which females have symptoms and physical findings that appear very similar to those seen in males with XLP. In such cases, the underlying genetic and immunological causes are not known and are under investigation. Therefore, the implications of such findings are not yet understood.</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>X-linked lymphoproliferative syndrome is an extremely rare disorder that is usually fully expressed in males only. About 400± cases affecting males in more than 80 multigenerational families (kindreds) from several different countries have been reported in the medical literature. Researchers estimate that approximately one to two in every one million males are affected by XLP.</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 may be similar to those of X-linked lymphoproliferative syndrome. Comparisons may be useful for a differential diagnosis:</p> <p>There are additional congenital disorders that may be characterized by impairment of the T-lymphocyte and/or B-lymphocyte systems, resulting in abnormally low levels of antibodies or immunoglobulins (hypogamma-globulinemia) in the blood and body secretions, increased susceptibility to certain infections such as severe infection with Epstein-Barr virus, liver dysfunction, aplastic anemia, and/or other symptoms and findings similar to those occurring in association with X-linked lymphoproliferative syndrome. Such disorders usually have other physical features that may differentiate them from XLP. (For more information on these disorders, choose the disease name in question 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>Because gene mutations that cause X-linked lymphoproliferative syndrome (XLP) have been identified, precise genetic testing may now be possible. However, such testing may only be available through research laboratories with a special interest in this disease.</p> <p>Therefore, in many cases, XLP is diagnosed when affected males become symptomatic, which is typically anytime from approximately six months to 10 years of age. Diagnosis of X-linked lymphoproliferative syndrome may be based upon a thorough clinical evaluation, identification of characteristic physical findings, a detailed patient and family history, and a pattern of immune system defects detected by specialized laboratory testing on blood from affected individuals. Diagnosis is most easily established when a clear family history is present.</p> <p>In individuals with severe infectious mononucleosis or fulminant hepatitis, specialized imaging tests may reveal abnormal enlargement of the liver and spleen (hepatosplenomegaly) and/or other findings. After EBV exposure or following infectious mononucleosis, specialized laboratory tests may reveal abnormally high concentrations of certain lymphocytes in the blood (lymphocytosis), deficient or absent antibody response to EBV antigens (e.g., EBV nuclear antigen), and, in some cases, abnormally low levels of all classes of immunoglobulins (acquired hypogammaglobulinemia) in the blood and body secretions. In some affected individuals, laboratory testing may also reveal abnormal liver function and/or a marked deficiency of all types of blood cells (pancytopenia), suggesting aplastic anemia. In some cases, specialized laboratory and imaging tests may also reveal additional findings associated with XLP.</p> <p>According to the medical literature, in families with males affected by X-linked lymphoproliferative syndrome, other male family members who have not yet been exposed to EBV (EBV seronegative) should be considered at risk for XLP. Because exposure to EBV may result in life-threatening complications in those with the disorder, it is essential that a diagnosis of XLP be confirmed or excluded in such family members before EBV exposure occurs.</p> <p>In addition, if males are diagnosed with Burkitt’s Lymphoma involving the area where the small intestine joins the large intestine (i.e., the ileocecal area), they and their male family members should receive testing for XLP. If XLP is confirmed, carrier testing may also be considered for female family members.</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 X-linked lymphoproliferative syndrome may require the coordinated efforts of a team of specialists who need to plan, systematically and comprehensively, an affected individual’s treatment. Such specialists may include pediatricians and/or internists, specialists in the functioning of the immune system (immunologists), physicians specializing in the diagnosis and treatment of blood disorders (hematologists) or cancers (oncologists), and/or other health care specialists.</p> <p>Because of the life-threatening implications of this disorder, it is important to identify those males with XLP as soon as possible. If affected individuals are identified before EBV exposure, infusion with immunoglobulins (intravenous gammaglobulin) with EBV antibodies may be recommended to help prevent life-threatening infectious mononucleosis and the onset of other symptoms and findings potentially associated with XLP.</p> <p>In affected individuals who are diagnosed with XLP subsequent to EBV exposure, treatment may include therapies to help prevent opportunistic infections associated with XLP such as the administration of antibiotic medications (prophylactic antibiotic therapy) and/or intravenous gammaglobulin therapy.</p> <p>Affected individuals who develop B-cell lymphoma such as Burkitt’s lymphoma may be treated with surgery, radiation, and/or chemotherapy.</p> <p>Genetic counseling will be of benefit for affected males and their family members. Other treatment is symptomatic and supportive.</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>Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site. For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:</p> <p>Tollfree: (800) 411-1222</p> <p>TTY: (866) 411-1010</p> <p>Email: <a href="/cdn-cgi/l/email-protection" class="__cf_email__" data-cfemail="b0c0c2c0dcf0d3d39eded9d89ed7dfc6">[email protected]</a></p> <p>For information about clinical trials sponsored by private sources, contact:</p> <p>www.centerwatch.com</p> <p>Two clinical trials involving the transplantation of a patient’s own stem cells are currently underway, and sponsored by the same principal investigator, K. Scott Baker, MD, at the University of Minnesota. Dr. Baker may be contacted at: (612) 625-9428 or <a href="/cdn-cgi/l/email-protection" class="__cf_email__" data-cfemail="3b595a505e490b030f7b4e5655155e5f4e">[email protected]</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 [e.g., immune deficiency, aplastic anemia, B-cell lymphoma, etc.].)</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>Kobayashi RH. X-Linked Lymphoproliferative Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:400.</p> <p>Janeway CA Jr, Travers P, Walport M, Shlomchik MJ. Immunobiology, 6th ed. Garland Science Publishing. New York, NY; 2005:486-87.</p> <p>Frank MM, Austen KF, Claman HN, et al. Eds. Samter’s Immunological Diseases. 5th ed. Little Brown and Company, Boston, MA; 1995:407.</p> <p>JOURNAL ARTICLES</p> <p>Bhat R, Eissmann P, Endt J, Hoffmann S, Watzl C. Fine-tuning of immune responses to SLAM-related receptors. J Leukoc Biol. 2006;79:417-24.</p> <p>Erdos M, Uzvolgyi E, Nemes Z, Torok O, et al. Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked proliferative disease. Hum Mutat. 2005;25:506.</p> <p>Tabata Y, Villanueva J, Lee SM, Zhang K, et al. Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members. Blood. 2005;105:3066-71.</p> <p>Latour S, Veillette A. The SAP family of adaptors in immune regulation. Semin Immunol. 2004;16:409-19.</p> <p>Engel P, Eck MJ, Terhorst C. The SAP and SLAM families in immune responses and X-linked lymphoproliferative disease. Nat Rev Immunol. 2003;3:813-21.</p> <p>FROM THE INTERNET</p> <p>McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Lymphoproliferative Syndrome, X-Linked, Entry Number; 308240: Last Edit Date; 7/20/2005.</p> <p>X-linked Lymphoproliferative Disease. Great Ormond Street Hospital for Children NHS Trust. Information Sheet. nd. 3pp.</p> <p>www.teamhartley.co.uk/whatis.asp</p> <p>X-Linked Lymphproliferative Syndrome. Primary Immunodeficiency Diseases. Primary Immunodeficiency Resource Center. 2006 Jeffrey Modell Foundation. 4pp.</p> <p>www.info4pi.org</p> <p>What is XLP? XLP Canada. nd. 1p.</p> <p>www.xlp.ca/what.html</p> <p>Saville MW. Lymphproliferative Syndrome, X-Linked. emedicine. Last Updated: October 29, 2004. 5pp.</p> <p>www.emedicine.com/med/topic1370.htm</p> <p>Winter SS. Lymphoproliferative Disorders. emedicine. Last Updated: April 7, 2006. 5pp.</p> <p>www.emedicine.com/ped/topic1345.htm</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><p>NORD strives to open new assistance programs as funding allows. If we don’t have a program for you now, please continue to check back with us.</p> <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/immune-deficiency-foundation/">Immune Deficiency 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#046d6a626b4474766d6965767d6d6969716a612a6b7663"> <span class="__cf_email__" data-cfemail="f990979f96b9898b9094988b809094948c979cd7968b9e">[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/card9-deficiency/">CARD9 Deficiency</a>, <a href="https://rarediseases.org/rare-diseases/whim-syndrome/">WHIM Syndrome</a>, <a href="https://rarediseases.org/rare-diseases/leukocyte-adhesion-deficiency-syndromes/">Leukocyte Adhesion Deficiency Syndromes</a>, <span> ...</span> </span> </div> <a href="https://rarediseases.org/organizations/immune-deficiency-foundation/" class="print-only">https://rarediseases.org/organizations/immune-deficiency-foundation/</a> <div class="xs-mt rdd-profile-link"> <a href="https://rarediseases.org/organizations/immune-deficiency-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/remember-the-girls/">Remember The Girls</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#d3babdb5bc93a1b6beb6beb1b6a1a7bbb6b4baa1bfa0fdbca1b4"> <span class="__cf_email__" data-cfemail="167f7870795664737b737b747364627e73717f647a6538796471">[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/aarskog-syndrome/">Aarskog Syndrome</a>, <a href="https://rarediseases.org/rare-diseases/adrenoleukodystrophy/">X-Linked Adrenoleukodystrophy</a>, <a href="https://rarediseases.org/rare-diseases/mct8-specific-thyroid-hormone-cell-transporter-deficiency/">MCT8-Specific Thyroid Hormone Cell Transporter Deficiency</a>, <span> ...</span> </span> </div> <a href="https://rarediseases.org/organizations/remember-the-girls/" class="print-only">https://rarediseases.org/organizations/remember-the-girls/</a> <div class="xs-mt rdd-profile-link"> <a href="https://rarediseases.org/organizations/remember-the-girls/">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/march-of-dimes/">March of Dimes</a> </h5> </div> <span class="rare-diseases w-100"> <div class="resource-contact-details"> </div> <div class="rd-details"> <span class="rare-diseases w-100"> <span>Related Rare Diseases:</span> <a href="https://rarediseases.org/rare-diseases/potter-syndrome/">Potter Syndrome</a>, <a href="https://rarediseases.org/rare-diseases/alpha-thalassemia/">Alpha Thalassemia</a>, <a href="https://rarediseases.org/rare-diseases/familial-partial-lipodystrophy/">Familial Partial Lipodystrophy</a>, <span> ...</span> </span> </div> <a href="https://rarediseases.org/organizations/march-of-dimes/" class="print-only">https://rarediseases.org/organizations/march-of-dimes/</a> <div class="xs-mt rdd-profile-link"> <a href="https://rarediseases.org/organizations/march-of-dimes/">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-institute-of-allergy-and-infectious-diseases/">NIH/National Institute of Allergy and Infectious Diseases</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:301-496-5717"> 301-496-5717 </a> </span> <span class="email no-mb"> <span>Email:</span> <a href="/cdn-cgi/l/email-protection#2a45495a45595e454c4c43494f6a44434b434e04444342044d455c"> <span class="__cf_email__" data-cfemail="325d51425d41465d54545b5157725c5b535b561c5c5b5a1c555d44">[email protected]</span> </a> </span> <span class="fax no-mb"> <span>Fax:</span> 301-402-3573 </span> </div> <div class="rd-details"> <span class="rare-diseases w-100"> <span>Related Rare Diseases:</span> <a href="https://rarediseases.org/rare-diseases/follicular-lymphoma/">Follicular Lymphoma</a>, <a href="https://rarediseases.org/rare-diseases/mucormycosis/">Mucormycosis</a>, <a href="https://rarediseases.org/rare-diseases/gerstmann-straussler-scheinker-disease/">Gerstmann-Sträussler-Scheinker Disease</a>, <span> ...</span> </span> </div> <a href="https://rarediseases.org/organizations/nih-national-institute-of-allergy-and-infectious-diseases/" class="print-only">https://rarediseases.org/organizations/nih-national-institute-of-allergy-and-infectious-diseases/</a> <div class="xs-mt rdd-profile-link"> <a href="https://rarediseases.org/organizations/nih-national-institute-of-allergy-and-infectious-diseases/">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/national-cancer-institute/">National Cancer Institute</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:301-435-3848"> 301-435-3848 </a> </span> <span class="email no-mb"> <span>Email:</span> <a href="/cdn-cgi/l/email-protection#accfcdc2cfc9decbc3dadfd8cdcacaecc1cdc5c082c2c5c482cbc3da"> <span class="__cf_email__" data-cfemail="85e6e4ebe6e0f7e2eaf3f6f1e4e3e3c5e8e4ece9abebecedabe2eaf3">[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/perivascular-epithelioid-cell-neoplasm/">Perivascular Epithelioid Cell Neoplasm</a>, <a href="https://rarediseases.org/rare-diseases/ruvalcaba-syndrome/">Bannayan-Riley-Ruvalcaba Syndrome</a>, <a href="https://rarediseases.org/rare-diseases/acute-promyelocytic-leukemia/">Acute Promyelocytic Leukemia</a>, <span> ...</span> </span> </div> <a href="https://rarediseases.org/organizations/national-cancer-institute/" class="print-only">https://rarediseases.org/organizations/national-cancer-institute/</a> <div class="xs-mt rdd-profile-link"> <a href="https://rarediseases.org/organizations/national-cancer-institute/">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/center-for-international-blood-and-marrow-transplant-research/">Center for International Blood and Marrow Transplant Research</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:414-805-0700"> 414-805-0700 </a> </span> <span class="email no-mb"> <span>Email:</span> <a href="/cdn-cgi/l/email-protection#22414d4c56434156575162414b404f56500c4d5045"> <span class="__cf_email__" data-cfemail="a9cac6c7ddc8cadddcdae9cac0cbc4dddb87c6dbce">[email protected]</span> </a> </span> <span class="fax no-mb"> <span>Fax:</span> 414-805-0714 </span> </div> <div class="rd-details"> <span class="rare-diseases w-100"> <span>Related Rare Diseases:</span> <a href="https://rarediseases.org/rare-diseases/acute-promyelocytic-leukemia/">Acute Promyelocytic Leukemia</a>, <a href="https://rarediseases.org/rare-diseases/hyper-igm-syndrome/">Hyper IgM Syndromes</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/center-for-international-blood-and-marrow-transplant-research/" class="print-only">https://rarediseases.org/organizations/center-for-international-blood-and-marrow-transplant-research/</a> <div class="xs-mt rdd-profile-link"> <a href="https://rarediseases.org/organizations/center-for-international-blood-and-marrow-transplant-research/">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/oncolink-the-university-of-pennsylvania-cancer-center-resource/">OncoLink: The University of Pennsylvania Cancer Center Resource</a> </h5> </div> <span class="rare-diseases w-100"> <div class="resource-contact-details"> <span class="email no-mb"> <span>Email:</span> <a href="/cdn-cgi/l/email-protection#254d444855564d4c57406550554d560b5055404b4b0b404150"> <span class="__cf_email__" data-cfemail="d8b0b9b5a8abb0b1aabd98ada8b0abf6ada8bdb6b6f6bdbcad">[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/acute-promyelocytic-leukemia/">Acute Promyelocytic Leukemia</a>, <a href="https://rarediseases.org/rare-diseases/primary-central-nervous-system-lymphoma/">Primary Central Nervous System Lymphoma</a>, <a href="https://rarediseases.org/rare-diseases/pediatric-non-small-cell-lung-cancer/">Pediatric Non-Small Cell Lung Cancer</a>, <span> ...</span> </span> </div> <a href="https://rarediseases.org/organizations/oncolink-the-university-of-pennsylvania-cancer-center-resource/" class="print-only">https://rarediseases.org/organizations/oncolink-the-university-of-pennsylvania-cancer-center-resource/</a> <div class="xs-mt rdd-profile-link"> <a href="https://rarediseases.org/organizations/oncolink-the-university-of-pennsylvania-cancer-center-resource/">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/international-patient-organization-for-primary-immunodeficiencies/">International Patient Organization for Primary Immunodeficiencies</a> </h5> </div> <span class="rare-diseases w-100"> <div class="resource-contact-details"> <span class="email no-mb"> <span>Email:</span> <a href="/cdn-cgi/l/email-protection#d9b0b7bfb699b0a9b6a9b0f7b6abbe"> <span class="__cf_email__" data-cfemail="533a3d353c133a233c233a7d3c2134">[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/complete-digeorge-syndrome/">Complete DiGeorge Syndrome</a>, <a href="https://rarediseases.org/rare-diseases/card9-deficiency/">CARD9 Deficiency</a>, <a href="https://rarediseases.org/rare-diseases/whim-syndrome/">WHIM Syndrome</a>, <span> ...</span> </span> </div> <a href="https://rarediseases.org/organizations/international-patient-organization-for-primary-immunodeficiencies/" class="print-only">https://rarediseases.org/organizations/international-patient-organization-for-primary-immunodeficiencies/</a> <div class="xs-mt rdd-profile-link"> <a href="https://rarediseases.org/organizations/international-patient-organization-for-primary-immunodeficiencies/">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/jeffrey-modell-foundation/">Jeffrey Modell Foundation</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:212-819-0200"> 212-819-0200 </a> </span> <span class="email no-mb"> <span>Email:</span> <a href="/cdn-cgi/l/email-protection#ef86818980af85828998809d838bc1809d88"> <span class="__cf_email__" data-cfemail="7910171f163913141f0e160b151d57160b1e">[email protected]</span> </a> </span> <span class="fax no-mb"> <span>Fax:</span> 212-764-4180 </span> </div> <div class="rd-details"> <span class="rare-diseases w-100"> <span>Related Rare Diseases:</span> <a href="https://rarediseases.org/rare-diseases/complete-digeorge-syndrome/">Complete DiGeorge Syndrome</a>, <a href="https://rarediseases.org/rare-diseases/card9-deficiency/">CARD9 Deficiency</a>, <a href="https://rarediseases.org/rare-diseases/whim-syndrome/">WHIM Syndrome</a>, <span> ...</span> </span> </div> <a href="https://rarediseases.org/organizations/jeffrey-modell-foundation/" class="print-only">https://rarediseases.org/organizations/jeffrey-modell-foundation/</a> <div class="xs-mt rdd-profile-link"> <a href="https://rarediseases.org/organizations/jeffrey-modell-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#144d7b617a735a475479757d783a7a7d7c3a737b62"> <span class="__cf_email__" data-cfemail="8ed7e1fbe0e9c0ddcee3efe7e2a0e0e7e6a0e9e1f8">[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 class="single-rd-resource"> <div class="single-rd-resource-headline"> <h5 class="body-font"> <a href="https://rarediseases.org/organizations/xlp-research-trust/">XLP Research Trust</a> </h5> </div> <span class="rare-diseases w-100"> <div class="resource-contact-details"> <span class="email no-mb"> <span>Email:</span> <a href="/cdn-cgi/l/email-protection#0f666169604f77637f7d6a7c6a6e7d6c677b7d7a7c7b21607d68"> <span class="__cf_email__" data-cfemail="7910171f16390115090b1c0a1c180b1a110d0b0c0a0d57160b1e">[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/x-linked-lymphoproliferative-syndrome/">X linked Lymphoproliferative Syndrome</a> </span> </div> <a href="https://rarediseases.org/organizations/xlp-research-trust/" class="print-only">https://rarediseases.org/organizations/xlp-research-trust/</a> <div class="xs-mt rdd-profile-link"> <a href="https://rarediseases.org/organizations/xlp-research-trust/">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/european-society-for-immunodeficiencies/">European Society for Immunodeficiencies</a> </h5> </div> <span class="rare-diseases w-100"> <div class="resource-contact-details"> <span class="email no-mb"> <span>Email:</span> <a href="/cdn-cgi/l/email-protection#c9a0a7afa689acbaa0ade7a6bbae"> <span class="__cf_email__" data-cfemail="3851565e57785d4b515c16574a5f">[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/complete-digeorge-syndrome/">Complete DiGeorge Syndrome</a>, <a href="https://rarediseases.org/rare-diseases/card9-deficiency/">CARD9 Deficiency</a>, <a href="https://rarediseases.org/rare-diseases/whim-syndrome/">WHIM Syndrome</a>, <span> ...</span> </span> </div> <a href="https://rarediseases.org/organizations/european-society-for-immunodeficiencies/" class="print-only">https://rarediseases.org/organizations/european-society-for-immunodeficiencies/</a> <div class="xs-mt rdd-profile-link"> <a href="https://rarediseases.org/organizations/european-society-for-immunodeficiencies/">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/10915/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/2442" 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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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> <!-- Leave <ul> empty to support CSS :empty selector. --></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. 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data-settings='{"runtimes":"html5,flash,html4","browse_button":"gform_browse_button_35_4","container":"gform_multifile_upload_35_4","drop_element":"gform_drag_drop_area_35_4","filelist":"gform_preview_35_4","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":"jpeg,png,jpg"}],"max_file_size":"3145728b"},"multipart":true,"urlstream_upload":false,"multipart_params":{"form_id":35,"field_id":4},"gf_vars":{"max_files":0,"message_id":"gform_multifile_messages_35_4","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_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> <!-- Leave <ul> empty to support CSS :empty selector. --></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. Have a question for us? Ask away.</div><div class='ginput_container ginput_container_textarea'><textarea name='input_3' id='input_35_3' class='textarea medium' aria-describedby="gfield_description_35_3" maxlength='600' aria-required="true" aria-invalid="false" rows='10' cols='50'></textarea></div></div><div id="field_35_5" class="gfield gfield--type-honeypot gform_validation_container field_sublabel_above gfield--has-description field_description_above field_validation_below gfield_visibility_visible" data-js-reload="field_35_5" ><label class='gfield_label gform-field-label' for='input_35_5'>Comments</label><div class='gfield_description' id='gfield_description_35_5'>This field is for validation purposes and should be left unchanged.</div><div class='ginput_container'><input name='input_5' id='input_35_5' type='text' value='' autocomplete='new-password'/></div></div></div></div> <div class='gform-footer gform_footer top_label'> <input type='submit' id='gform_submit_button_35' class='gform_button button' onclick='gform.submission.handleButtonClick(this)' value='Submit' /> <input type='hidden' name='gform_ajax' value='form_id=35&title=&description=&tabindex=0&theme=gravity-theme' /> <input type='hidden' class='gform_hidden' name='gform_submission_method' data-js='gform_submission_method_35' value='iframe' /> <input type='hidden' class='gform_hidden' name='is_submit_35' value='1' /> <input type='hidden' class='gform_hidden' name='gform_submit' value='35' /> <input type='hidden' class='gform_hidden' name='gform_unique_id' value='' /> <input type='hidden' class='gform_hidden' name='state_35' value='WyJbXSIsImRhODZkOTEyM2FhMDJkZTQxODJmNzc4MDBlYmM3NWVkIl0=' /> <input type='hidden' autocomplete='off' class='gform_hidden' name='gform_target_page_number_35' id='gform_target_page_number_35' value='0' /> <input type='hidden' autocomplete='off' class='gform_hidden' name='gform_source_page_number_35' id='gform_source_page_number_35' value='1' /> <input type='hidden' name='gform_field_values' value='' /> <input type='hidden' name='gform_uploaded_files' id='gform_uploaded_files_35' value='' /> </div> </form> </div> <iframe style='display:none;width:0px;height:0px;' src='about:blank' name='gform_ajax_frame_35' id='gform_ajax_frame_35' title='This iframe contains the logic required to handle Ajax powered Gravity Forms.'></iframe> <script type="text/javascript"> /* <![CDATA[ */ gform.initializeOnLoaded( function() {gformInitSpinner( 35, 'https://rarediseases.org/wp-content/plugins/gravityforms/images/spinner.svg', true );jQuery('#gform_ajax_frame_35').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_35');var is_confirmation = jQuery(this).contents().find('#gform_confirmation_wrapper_35').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_35').html(form_content.html());if(form_content.hasClass('gform_validation_error')){jQuery('#gform_wrapper_35').addClass('gform_validation_error');} else {jQuery('#gform_wrapper_35').removeClass('gform_validation_error');}setTimeout( function() { /* delay the scroll by 50 milliseconds to fix a bug in chrome */ jQuery(document).scrollTop(jQuery('#gform_wrapper_35').offset().top - mt); }, 50 );if(window['gformInitDatepicker']) {gformInitDatepicker();}if(window['gformInitPriceFields']) {gformInitPriceFields();}var current_page = jQuery('#gform_source_page_number_35').val();gformInitSpinner( 35, 'https://rarediseases.org/wp-content/plugins/gravityforms/images/spinner.svg', true );jQuery(document).trigger('gform_page_loaded', [35, current_page]);window['gf_submitting_35'] = false;}else if(!is_redirect){var confirmation_content = jQuery(this).contents().find('.GF_AJAX_POSTBACK').html();if(!confirmation_content){confirmation_content = contents;}jQuery('#gform_wrapper_35').replaceWith(confirmation_content);jQuery(document).scrollTop(jQuery('#gf_35').offset().top - mt);jQuery(document).trigger('gform_confirmation_loaded', [35]);window['gf_submitting_35'] = false;wp.a11y.speak(jQuery('#gform_confirmation_message_35').text());}else{jQuery('#gform_35').append(contents);if(window['gformRedirect']) {gformRedirect();}}jQuery(document).trigger("gform_pre_post_render", [{ formId: "35", currentPage: "current_page", abort: function() { this.preventDefault(); } }]); if (event && event.defaultPrevented) { return; } const gformWrapperDiv = document.getElementById( "gform_wrapper_35" ); if ( gformWrapperDiv ) { const visibilitySpan = document.createElement( "span" ); visibilitySpan.id = "gform_visibility_test_35"; gformWrapperDiv.insertAdjacentElement( "afterend", visibilitySpan ); } const visibilityTestDiv = document.getElementById( "gform_visibility_test_35" ); let postRenderFired = false; function triggerPostRender() { if ( postRenderFired ) { return; } postRenderFired = true; jQuery( document ).trigger( 'gform_post_render', [35, current_page] ); gform.utils.trigger( { event: 'gform/postRender', native: false, data: { formId: 35, currentPage: current_page } } ); gform.utils.trigger( { event: 'gform/post_render', native: false, data: { formId: 35, 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 = setTimeout( later, wait ); if ( callNow ) func.apply( context, args ); }; } const debouncedTriggerPostRender = debounce( function() { triggerPostRender(); }, 200 ); if ( visibilityTestDiv && visibilityTestDiv.offsetParent === null ) { const observer = new MutationObserver( ( mutations ) => { mutations.forEach( ( mutation ) => { if ( mutation.type === 'attributes' && visibilityTestDiv.offsetParent !== null ) { debouncedTriggerPostRender(); observer.disconnect(); } }); }); observer.observe( document.body, { attributes: true, childList: false, subtree: true, attributeFilter: [ 'style', 'class' ], }); } else { triggerPostRender(); } } );} ); /* ]]> */ </script> </div> <button type="button" class="pum-close popmake-close" aria-label="Close"> × </button> </div> </div> <div id="pum-257856" role="dialog" aria-modal="false" class="pum pum-overlay pum-theme-11442 pum-theme-content-only popmake-overlay click_open" data-popmake="{"id":257856,"slug":"rdd-sponsorship-inquiries","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":"100%","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-257856" 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_33' ><div id='gf_33' class='gform_anchor' tabindex='-1'></div><form method='post' enctype='multipart/form-data' target='gform_ajax_frame_33' id='gform_33' action='/rare-diseases/x-linked-lymphoproliferative-syndrome/#gf_33' data-formid='33' 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_33' class='gform_fields top_label form_sublabel_above description_above validation_below'><fieldset id="field_33_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_33_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_33_1'> <span id='input_33_1_3_container' class='name_first gform-grid-col gform-grid-col--size-auto' > <label for='input_33_1_3' class='gform-field-label gform-field-label--type-sub '>First</label> <input type='text' name='input_1.3' id='input_33_1_3' value='' aria-required='true' autocomplete="given-name" /> </span> <span id='input_33_1_6_container' class='name_last gform-grid-col gform-grid-col--size-auto' > <label for='input_33_1_6' class='gform-field-label gform-field-label--type-sub '>Last</label> <input type='text' name='input_1.6' id='input_33_1_6' value='' aria-required='true' autocomplete="family-name" /> </span> </div></fieldset><fieldset id="field_33_2" class="gfield gfield--type-email gfield--input-type-email gfield_contains_required field_sublabel_above gfield--no-description field_description_above field_validation_below gfield_visibility_visible" data-js-reload="field_33_2" ><legend class='gfield_label gform-field-label gfield_label_before_complex' >Email<span class="gfield_required"><span class="gfield_required gfield_required_text">(Required)</span></span></legend><div class='ginput_complex ginput_container ginput_container_email gform-grid-row' id='input_33_2_container'> <span id='input_33_2_1_container' class='ginput_left gform-grid-col gform-grid-col--size-auto'> <label for='input_33_2' class='gform-field-label gform-field-label--type-sub '>Enter Email</label> <input class='' type='email' name='input_2' id='input_33_2' value='' aria-required="true" aria-invalid="false" autocomplete="email"/> </span> <span id='input_33_2_2_container' class='ginput_right gform-grid-col gform-grid-col--size-auto'> <label for='input_33_2_2' class='gform-field-label gform-field-label--type-sub '>Confirm Email</label> <input class='' type='email' name='input_2_2' id='input_33_2_2' value='' aria-required="true" aria-invalid="false" autocomplete="email"/> </span> <div class='gf_clear gf_clear_complex'></div> </div></fieldset><div id="field_33_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_33_3" ><label class='gfield_label gform-field-label' for='input_33_3'>Comments<span class="gfield_required"><span class="gfield_required gfield_required_text">(Required)</span></span></label><div class='gfield_description' id='gfield_description_33_3'>Please let us know what's on your mind. 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Ask away.</div><div class='ginput_container ginput_container_textarea'><textarea name='input_3' id='input_33_3' class='textarea medium' aria-describedby="gfield_description_33_3" maxlength='600' aria-required="true" aria-invalid="false" rows='10' cols='50'></textarea></div></div><div id="field_33_4" class="gfield gfield--type-honeypot gform_validation_container field_sublabel_above gfield--has-description field_description_above field_validation_below gfield_visibility_visible" data-js-reload="field_33_4" ><label class='gfield_label gform-field-label' for='input_33_4'>Phone</label><div class='gfield_description' id='gfield_description_33_4'>This field is for validation purposes and should be left unchanged.</div><div class='ginput_container'><input name='input_4' id='input_33_4' type='text' value='' autocomplete='new-password'/></div></div></div></div> <div class='gform-footer gform_footer top_label'> <input type='submit' id='gform_submit_button_33' class='gform_button button' onclick='gform.submission.handleButtonClick(this)' value='Submit' /> <input type='hidden' name='gform_ajax' value='form_id=33&title=&description=&tabindex=0&theme=gravity-theme' /> <input type='hidden' class='gform_hidden' name='gform_submission_method' data-js='gform_submission_method_33' value='iframe' /> <input type='hidden' class='gform_hidden' name='is_submit_33' value='1' /> <input type='hidden' class='gform_hidden' name='gform_submit' value='33' /> <input type='hidden' class='gform_hidden' name='gform_unique_id' value='' /> <input type='hidden' class='gform_hidden' name='state_33' value='WyJbXSIsImRhODZkOTEyM2FhMDJkZTQxODJmNzc4MDBlYmM3NWVkIl0=' /> <input type='hidden' autocomplete='off' class='gform_hidden' name='gform_target_page_number_33' id='gform_target_page_number_33' value='0' /> <input type='hidden' autocomplete='off' class='gform_hidden' name='gform_source_page_number_33' id='gform_source_page_number_33' value='1' /> <input type='hidden' name='gform_field_values' value='' /> </div> </form> </div> <iframe style='display:none;width:0px;height:0px;' src='about:blank' name='gform_ajax_frame_33' id='gform_ajax_frame_33' title='This iframe contains the logic required to handle Ajax powered Gravity Forms.'></iframe> <script type="text/javascript"> /* <![CDATA[ */ gform.initializeOnLoaded( function() {gformInitSpinner( 33, 'https://rarediseases.org/wp-content/plugins/gravityforms/images/spinner.svg', true );jQuery('#gform_ajax_frame_33').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_33');var is_confirmation = jQuery(this).contents().find('#gform_confirmation_wrapper_33').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_33').html(form_content.html());if(form_content.hasClass('gform_validation_error')){jQuery('#gform_wrapper_33').addClass('gform_validation_error');} else {jQuery('#gform_wrapper_33').removeClass('gform_validation_error');}setTimeout( function() { /* delay the scroll by 50 milliseconds to fix a bug in chrome */ jQuery(document).scrollTop(jQuery('#gform_wrapper_33').offset().top - mt); 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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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metilmal\u00f3nica","MMA"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/acidemia-methylmalonic\/"},{"id":"714","title":"Propionic Acidemia *","synonyms":["propionyl-CoA carboxylase deficiency","PCC deficiency","PA","PCCA-related propionic acidemia","PCCB-related propionic acidemia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/propionic-acidemia\/"},{"id":"715","title":"Acoustic Neuroma *","synonyms":["acoustic neurilemoma","acoustic neurinoma","fibroblastoma, perineural","neurinoma of the acoustic nerve","neurofibroma of the acoustic nerve","schwannoma of the acoustic nerve","vestibular schwannoma"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/acoustic-neuroma\/"},{"id":"716","title":"Acquired Aplastic Anemia *","synonyms":["idiopathic aplastic anemia","immune aplastic 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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 *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/acromegaly\/"},{"id":"724","title":"Acromesomelic Dysplasia *","synonyms":["acromesomelic dwarfism"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/acromesomelic-dysplasia\/"},{"id":"725","title":"Acromicric Dysplasia *","synonyms":["Acromicric Skeletal Dysplasia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/acromicric-dysplasia\/"},{"id":"726","title":"ACTH Deficiency *","synonyms":["adrenocorticotropic hormone deficiency, isolated"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/acth-deficiency\/"},{"id":"727","title":"Acute Disseminated Encephalomyelitis *","synonyms":["ADEM","ADE"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/acute-disseminated-encephalomyelitis\/"},{"id":"254389","title":"Encefalomielitis aguda diseminada *","synonyms":["EDA","Encefalomielitis aguda diseminada"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/acute-disseminated-encephalomyelitis\/"},{"id":"728","title":"Acute Eosinophilic Pneumonia *","synonyms":["AEP","IAEP","idiopathic acute eosinophilic pneumonia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/acute-eosinophilic-pneumonia\/"},{"id":"729","title":"Acute Intermittent Porphyria *","synonyms":["AIP","Swedish Porphyria"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/acute-intermittent-porphyria\/"},{"id":"730","title":"Acute Respiratory Distress Syndrome *","synonyms":["acute lung injury","adult respiratory distress syndrome","ARDS","noncardiogenic pulmonary edema","increased-permeability pulmonary 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 carcinoma","cylindroma"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/adenoid-cystic-carcinoma\/"},{"id":"152392","title":"Carcinoma qu\u00edstico adenoide *","synonyms":["CAC ","Carcinoma adenoqu\u00edstico ","Carcinoma cribiforme","Cilindroma"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/adenoid-cystic-carcinoma\/"},{"id":"734","title":"Adenylosuccinate Lyase Deficiency *","synonyms":["adenylosuccinase deficiency","succinylpurinemic autism","ADSL deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/adenylosuccinate-lyase-deficiency\/"},{"id":"735","title":"Adie Syndrome *","synonyms":["Adie's Pupil","Adie's Syndrome","Adie's Tonic Pupil","Holmes-Adie Syndrome","tonic pupil syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/adie-syndrome\/"},{"id":"736","title":"X-Linked Adrenoleukodystrophy *","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 hendido","S\u00edndrome de Hay-Wells"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/aec-syndrome\/"},{"id":"739","title":"Congenital Afibrinogenemia *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/afibrinogenemia-congenital\/"},{"id":"155449","title":"Afibrinogenemia cong\u00e9nita *","synonyms":["Deficiencia cong\u00e9nita de fibrin\u00f3geno"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/afibrinogenemia-congenital\/"},{"id":"740","title":"African Iron Overload *","synonyms":["African siderosis","Bantu siderosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/african-iron-overload\/"},{"id":"741","title":"Agammaglobulinemia *","synonyms":["hypogammaglobulinemia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/agammaglobulinemia\/"},{"id":"742","title":"Agenesis of Corpus 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 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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 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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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*","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 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*","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 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*","synonyms":["Dichuchwa","Endemic Syphilis","Frenga","Njovera","Nonvenereal Syphilis","Siti","Treponematosis, Bejel Type"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/bejel\/"},{"id":"848","title":"Bell's Palsy *","synonyms":["Antoni's Palsy","facial nerve palsy","facial paralysis","idiopathic facial palsy","refrigeration palsy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/bells-palsy\/"},{"id":"849","title":"Benign Essential Blepharospasm *","synonyms":["BEB","blepharospasm"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/benign-essential-blepharospasm\/"},{"id":"255706","title":"Blefaroespasmo esencial benigno *","synonyms":["BEB","Blefaroespasmo"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/benign-essential-blepharospasm\/"},{"id":"850","title":"Benign Paroxysmal Positional Vertigo 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polymorphic vitelline","vitelliform macular dystrophy, early-onset","vitelliform macular dystrophy, juvenile-onset","vitelliform macular dystrophy, type 2"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/best-vitelliform-macular-dystrophy\/"},{"id":"854","title":"Bile Acid Synthesis Disorders *","synonyms":["BASD","bile acid synthesis defects"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/bile-acid-synthesis-disorders\/"},{"id":"855","title":"Binder Type Nasomaxillary Dysplasia *","synonyms":["Binder syndrome","maxillonasal dysplasia","nasomaxillary hypoplasia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/binder-type-maxillonasal-dysplasia\/"},{"id":"271271","title":"S\u00edndrome de Binder *","synonyms":["Displasia maxilonasal tipo Binder ","Hipoplasia nasomaxilar tipo 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 Albinism","Natural Killer Lymphocytes, Defect in","Oculocutaneous Albinism, Chediak-Higashi Type"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chediak-higashi-syndrome\/"},{"id":"922","title":"Chiari Frommel Syndrome *","synonyms":["Frommel-Chiari Syndrome","Lactation-Uterus Atrophy","Postpartum Galactorrhea-Amenorrhea Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chiari-frommel-syndrome\/"},{"id":"923","title":"Chiari Malformations *","synonyms":["Arnold-Chiari Malformation (ACM)","CM","Hindbrain Herniation","Tonsillar Ectopia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chiari-malformations\/"},{"id":"924","title":"Chikungunya *","synonyms":["Arbovirus A Chikungunya Type","CHIK","CK"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/chikungunya\/"},{"id":"925","title":"Chilaiditi's Syndrome *","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 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*","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 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*","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 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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 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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 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*","synonyms":["CMV","Cytomegalic Inclusion Disease","Giant Cell Inclusion Disease (CID)","Human Cytomegalovirus Infection","Salivary Gland Disease, CMV Type"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cytomegalovirus-infection\/"},{"id":"1032","title":"Dandy Walker Malformation *","synonyms":["Dandy-Walker Cyst","Dandy-Walker Deformity","Dandy-Walker Syndrome","DWM","Hydrocephalus, Internal, Dandy-Walker Type","Hydrocephalus, Noncommunicating, Dandy-Walker Type","Luschka-Magendie Foramina Atresia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/dandy-walker-malformation\/"},{"id":"142827","title":"Malformaci\u00f3n de Dandy Walker *","synonyms":["Quiste de Dandy-Walker","Deformidad de dandy-walker","S\u00edndrome de Dandy-Walker","Hidrocefalia Interna Tipo Dandy-Walker","Hidrocefalia, no comunicante, tipo Dandy-Walker","Atresia del foramen de 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 III","Charcot-Marie-Tooth disease, type 3","CMT3","DSS","hypertrophic neuropathy of Dejerine-Sottas"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/dejerine-sottas-disease\/"},{"id":"1038","title":"Dengue Fever *","synonyms":["dengue","dengue virus","breakbone fever","dandy fever"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/dengue-fever\/"},{"id":"1039","title":"C3 Glomerulopathy: Dense Deposit Disease and C3 Glomerulonephritis *","synonyms":["C3G"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/c3-glomerulopathy-dense-deposit-disease-and-c3-glomerulonephritis\/"},{"id":"1040","title":"Dent Disease *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/dent-disease\/"},{"id":"1041","title":"Dentin Dysplasia Type I *","synonyms":["Dentin Dysplasia, Radicular","Opalescent Dentin","Pulpless Teeth","Radicular Dentin 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*","synonyms":["Depersonalization Neurosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/depersonalization-disorder\/"},{"id":"1046","title":"Dercum's Disease *","synonyms":["adiposis dolorosa","fatty tissue rheumatism","juxta-articular adiposis dolorosa","lipomatosis dolorosa","morbus Dercum's"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/dercums-disease\/"},{"id":"1047","title":"Dermatitis Herpetiformis *","synonyms":["Duhring-Brocq disease","Brocq-Duhring disease","Duhring disease","dermatitis multiformis","DH"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/dermatitis-herpetiformis\/"},{"id":"1048","title":"Dermatomyositis *","synonyms":["ADM","childhood dermatomyositis","idiopathic inflammatory myopathy","IIM","polymyositis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/dermatomyositis\/"},{"id":"1049","title":"Desmoid Tumor *","synonyms":["aggressive fibromatosis","deep fibromatosis","musculoaponeurotic fibromatosis","nonmetastasizing fibrosarcoma"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/desmoid-tumor\/"},{"id":"214552","title":"Tumor desmoide *","synonyms":["Fibromatosis agresiva ","Fibromatosis profunda ","Fibromatosis musculoaponeur\u00f3tica","Fibrosarcoma no metast\u00e1sico"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/desmoid-tumor\/"},{"id":"1050","title":"Dextrocardia with Situs Inversus *","synonyms":["Mirror-Image Dextrocardia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/dextrocardia-with-situs-inversus\/"},{"id":"1051","title":"Diastrophic Dysplasia *","synonyms":["DD","Diastrophic Dwarfism","Diastrophic Nanism 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retraction syndrome","eye retraction syndrome","retraction syndrome","Stilling-Turk-Duane syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/duane-syndrome\/"},{"id":"273405","title":"S\u00edndrome de Duane *","synonyms":["S\u00edndrome de retracci\u00f3n de Duane ","S\u00edndrome de retracci\u00f3n ocular ","S\u00edndrome de Stilling-Turk-Duane ","DRS","DURS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/duane-syndrome\/"},{"id":"1063","title":"Dubin Johnson Syndrome *","synonyms":["chronic idiopathic jaundice","conjugated hyperbilirubinemia","DJS","hyperbilirubinemia II","black liver-jaundice syndrome","Dubin-Sprinz syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/dubin-johnson-syndrome\/"},{"id":"260028","title":"S\u00edndrome de Dubin Johnson *","synonyms":["Ictericia idiop\u00e1tica cr\u00f3nica ","Hiperbilirrubinemia conjugada ","DJS ","Hiperbilirrubinemia II ","S\u00edndrome de ictericia del h\u00edgado negro","S\u00edndrome de Dubin-Sprinz"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/dubin-johnson-syndrome\/"},{"id":"1064","title":"Dubowitz Syndrome *","synonyms":["Intrauterine Dwarfism","dwarfism-eczema-peculiar facies syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/dubowitz-syndrome\/"},{"id":"1065","title":"Duchenne Muscular Dystrophy *","synonyms":["DMD","dystrophinopathy","pseudohypertrophic myopathy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/duchenne-muscular-dystrophy\/"},{"id":"142858","title":"Distrofia muscular de Duchenne *","synonyms":["DMD","Distrofinopat\u00eda","Miopat\u00eda pseudohipertr\u00f3fica "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/distrofia-muscular-de-duchenne\/"},{"id":"1066","title":"Duodenal Atresia or Stenosis *","synonyms":["Duodenal Atresia","Duodenal Stenosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/duodenal-atresia-or-stenosis\/"},{"id":"1068","title":"Dyggve Melchior Clausen syndrome *","synonyms":["DMC disease","pseudo-Morquio disease type I"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/dyggve-melchior-clausen-syndrome\/"},{"id":"1069","title":"Dysautonomia, Familial *","synonyms":["FD","Hereditary Sensory and Autonomic Neuropathy, Type III (HSAN, Type III)","Hereditary Sensory Neuropathy Type III","HSAN-III","HSN-III","Riley-Day Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/dysautonomia-familial\/"},{"id":"1070","title":"Leri-Weill Dyschondrosteosis *","synonyms":["Leri-Weill disease","Leri-Weill 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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 Periphlebitis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/eales-disease\/"},{"id":"1077","title":"Meier-Gorlin Syndrome *","synonyms":["MGS","ear, patella, short stature syndrome","microtia, absent patellae, micrognathia syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ear-patella-short-stature-syndrome\/"},{"id":"1078","title":"Ectodermal Dysplasias *","synonyms":["ED"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ectodermal-dysplasias\/"},{"id":"1079","title":"Ectrodactyly Ectodermal Dysplasia Cleft Lip\/Palate *","synonyms":["ectrodactyly-ectodermal dysplasia-clefting syndrome","ectrodactyly-ectodermal dysplasia-orofacial clefts","EEC syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ectrodactyly-ectodermal-dysplasia-cleft-lippalate\/"},{"id":"1080","title":"Ehlers Danlos Syndrome *","synonyms":["EDS","E-D 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dysplasia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ellis-van-creveld-syndrome\/"},{"id":"260380","title":"S\u00edndrome de Ellis-Van Creveld *","synonyms":["Displasia condroectod\u00e9rmica","EVC","Displasia mesoectod\u00e9rmica"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/ellis-van-creveld-syndrome\/"},{"id":"1084","title":"Emery Dreifuss Muscular Dystrophy *","synonyms":["EDMD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/emery-dreifuss-muscular-dystrophy\/"},{"id":"1085","title":"Emphysema, Congenital Lobar *","synonyms":["CLE","Congenital Pulmonary Emphysema","Emphysema, Localized Congenital","Lobar Emphysema, Infantile","Lobar Tension Emphysema in Infancy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/emphysema-congenital-lobar\/"},{"id":"1086","title":"Empty Sella Syndrome *","synonyms":["empty sella 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sclerosis","Fetal Endomyocardial Fibrosis","Subendocardial Sclerosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/endocardial-fibroelastosis\/"},{"id":"1091","title":"Infective Endocarditis *","synonyms":["bacterial endocarditis","IE"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/endocarditis-infective\/"},{"id":"256921","title":"Endocarditis infecciosa *","synonyms":["Endocarditis bacteriana"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/endocarditis-infective\/"},{"id":"1092","title":"Endomyocardial Fibrosis *","synonyms":["Davies' disease","EMF","fibroelastic endocarditis","Loeffler endomyocardial fibrosis with eosinophilia","Loeffler fibroplastic parietal endocarditis","Loeffler's disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/endomyocardial-fibrosis\/"},{"id":"1093","title":"Enterobiasis *","synonyms":["Oxyuriasis","Pinworm Infection","Seatworm Infection"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/enterobiasis\/"},{"id":"1094","title":"Eosinophilia-Myalgia Syndrome *","synonyms":["EMS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/eosinophilia-myalgia-syndrome\/"},{"id":"1095","title":"Eosinophilic Esophagitis *","synonyms":["allergic esophagitis","EoE"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/eosinophilic-esophagitis\/"},{"id":"258954","title":"Esofagitis eosinof\u00edlica *","synonyms":["Esofagitis al\u00e9rgica EEo","EEo"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/eosinophilic-esophagitis\/"},{"id":"1096","title":"Eosinophilic Fasciitis *","synonyms":["diffuse eosinophilic fasciitis","Shulman syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/eosinophilic-fasciitis\/"},{"id":"1097","title":"Eosinophilic Gastroenteritis *","synonyms":["EG","EGE","EGID","eosinophilic gastritis","eosinophilic gastroenteropathy","eosinophilic gastrointestinal disorders"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/eosinophilic-gastroenteritis\/"},{"id":"1098","title":"Epidermal Nevus Syndromes *","synonyms":["ENSs"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/epidermal-nevus-syndromes\/"},{"id":"1099","title":"Epidermolysis Bullosa *","synonyms":["EB"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/epidermolysis-bullosa\/"},{"id":"1100","title":"Epidermolytic Ichthyosis *","synonyms":["bullous congenital ichthyosiform erythroderma (of Brocq)","epidermolytic hyperkeratosis (EHK)","congenital bullous ichthyosiform erythroderma (BCIE)","bullous ichthyosiform erythroderma congenita","bullous ichthyosiform erythroderma","bullous erythroderma ichthyosiformis congenita of Brocq","EI"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/epidermolytic-ichthyosis\/"},{"id":"254298","title":"Ictiosis epidermol\u00edtica *","synonyms":["Ictiosis epidermol\u00edtica autos\u00f3mica dominante ","Eritrodermia ictiosiforme cong\u00e9nita ampollosa (de Brocq) ","Hiperqueratosis epidermol\u00edtica (EHK) ","Eritrodermia ictiosiforme ampollosa cong\u00e9nita (BCIE) ","Eritrodermia cong\u00e9nita ictiosiforme ampollosa ","Eritrodermia ictiosiforme ampollosa ","Eritrodermia ampollosa ictiosiforme cong\u00e9nita de Brocq ","IE"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/epidermolytic-ichthyosis\/"},{"id":"1101","title":"Epitheliopathy, Acute Posterior Multifocal Placoid Pigment *","synonyms":["Acute multifocal placoid pigment epitheliopathy","Acute 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 Type"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/erythema-multiforme\/"},{"id":"1106","title":"Erythromelalgia *","synonyms":["erythermalgia","Gerhardt disease","Mitchell disease","Weir-Mitchell disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/erythromelalgia\/"},{"id":"150753","title":"Eritromelalgia *","synonyms":["Eritermalgia ","Enfermedad de Gerhardt ","Enfermedad de Mitchell ","Enfermedad de Weir-Mitchel"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/erythromelalgia\/"},{"id":"1107","title":"Erythropoietic Protoporphyria and X-Linked Protoporphyria *","synonyms":["EPP","erythrohepatic protoporphyria","protoporphyria"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/erythropoietic-protoporphyria\/"},{"id":"1108","title":"Esophageal Atresia and\/or Tracheoesophageal Fistula *","synonyms":["atresia of esophagus with or 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 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*","synonyms":["autoimmune thrombocytopenic purpura","ITP","idiopathic immune thrombocytopenia","primary immune thrombocytopenia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/immune-thrombocytopenia\/"},{"id":"153064","title":"Trombocitopenia inmune *","synonyms":["PTI ","ITP","Trombocitopenia inmune idiop\u00e1tica ","Trombocitopenia inmune primaria","P\u00farpura trombocitop\u00e9nica inmune ","P\u00farpura trombocitop\u00e9nica autoinmune"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/immune-thrombocytopenia\/"},{"id":"1298","title":"IgA Nephropathy *","synonyms":["Berger's disease","IgAN"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/iga-nephropathy\/"},{"id":"1299","title":"Imperforate Anus *","synonyms":["Anal Atresia","Anal Membrane","Anal Stenosis","Anorectal Malformations","Ectopic Anus","High Imperforate Anus","Low Imperforate Anus","Perineal Anus","Rectoperineal Fistula"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/imperforate-anus\/"},{"id":"1300","title":"Incontinentia Pigmenti *","synonyms":["Bloch-Siemens incontinentia pigmenti melanoblastosis cutis linearis","Bloch-Sulzberger syndrome","IP","pigmented dermatosis, Siemens-Bloch type"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/incontinentia-pigmenti\/"},{"id":"1301","title":"Infantile Myofibromatosis *","synonyms":["congenital generalized fibromatosis","IM","juvenile myofibromatosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/infantile-myofibromatosis\/"},{"id":"271317","title":"Miofibromatosis infantil *","synonyms":["Fibromatosis generalizada cong\u00e9nita ","Miofibromatosis juvenil"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/infantile-myofibromatosis\/"},{"id":"1302","title":"PLA2G6-Associated Neurodegeneration *","synonyms":["PLAN","neurodegeneration with brain iron accumulation 2A (NBIA2A)","infantile neuroanonal dystrophy (INAD), formerly","Seitelberger disease","Karak syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/infantile-neuroaxonal-dystrophy\/"},{"id":"1303","title":"IRF6-Related Disorders *","synonyms":["lip pits syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/irf6-related-disorders\/"},{"id":"1305","title":"Ivemark Syndrome *","synonyms":["asplenia syndrome","asplenia with cardiovascular anomalies","bilateral right-sidedness sequence","right isomerism sequence"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/ivemark-syndrome\/"},{"id":"1306","title":"Jackson-Weiss Syndrome *","synonyms":["craniosynostosis, midfacial hypoplasia and foot abnormalities","Jackson-Weiss 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 dysostosis","SCD","SCDO"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/jarcho-levin-syndrome\/"},{"id":"1309","title":"Jejunal Atresia *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/jejunal-atresia\/"},{"id":"256893","title":"Atresia yeyunal *","synonyms":["Atresia de intestino delgado ","Atresia yeyunoileal"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/jejunal-atresia\/"},{"id":"1310","title":"Jervell and Lange-Nielsen Syndrome *","synonyms":["autosomal recessive long QT syndrome (LQTS)","cardioauditory syndrome","cardioauditory syndrome of Jervell and Lange-Nielsen","deafness, congenital, and functional heart disease","Jervell and Lange-Nielsen (JLNS)","surdocardiac syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/jervell-and-lange-nielsen-syndrome\/"},{"id":"1311","title":"Johanson-Blizzard Syndrome *","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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*","synonyms":["malignant mesothelioma","MM"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/mesothelioma\/"},{"id":"1444","title":"Metaphyseal Chondrodysplasia, Schmid Type *","synonyms":["Japanese type spondylometaphyseal dysplasia","MCDS","Schmid metaphyseal dysostosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/metaphyseal-chondrodysplasia-schmid-type\/"},{"id":"1445","title":"Metatropic Dysplasia I *","synonyms":["Chondrodystrophy, Hyperplastic Form","Dwarfism, Metatropic","Metatropic Dwarfism","Metatropic Dwarfism Syndrome","Metatropic Dysplasia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/metatropic-dysplasia-i\/"},{"id":"1446","title":"Microvillus Inclusion Disease *","synonyms":["congenital familial protracted diarrhea","congenital microvillus atrophy","Davidson's disease","familial enteropathy, microvillus","MVID","intractable diarrhea of 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myopathy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/nemaline-myopathy\/"},{"id":"273865","title":"Miopat\u00eda nemal\u00ednica *","synonyms":["MN ","Miopat\u00eda nemal\u00ednica de bastoncillos ","NEM ","NM"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/nemaline-myopathy\/"},{"id":"1494","title":"Neonatal Hemochromatosis *","synonyms":["congenital hemochromatosis","neonatal iron storage disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/neonatal-hemochromatosis\/"},{"id":"1495","title":"Neonatal Lupus *","synonyms":["neonatal lupus erythematosus","congenital heart block","neonatal lupus syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/neonatal-lupus\/"},{"id":"1496","title":"Neonatal-Onset Multisystem Inflammatory Disease *","synonyms":["chronic, infantile, neurological, cutaneous and articular syndrome","CINCA 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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 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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 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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 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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 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*","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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*","synonyms":["PMD","hypomyelinating leukodystrophy 1","HLD1","sclerosis, diffuse familial brain"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pelizaeus-merzbacher-disease\/"},{"id":"273502","title":"Enfermedad de Pelizaeus-Merzbacher *","synonyms":["PMD","Leucodistrofia hipomielinizante 1 ","HLD1 ","Esclerosis cerebral familiar difusa"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/pelizaeus-merzbacher-disease\/"},{"id":"1564","title":"Pemphigus and Pemphigoid *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pemphigus\/"},{"id":"250490","title":"P\u00e9nfigo y penfigoide *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/pemphigus\/"},{"id":"1565","title":"Penta X Syndrome *","synonyms":["49, XXXXX chromosome constitution","49, XXXXX karyotype","49, XXXXX syndrome","pentasomy X","XXXXX 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 syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pierre-robin-sequence\/"},{"id":"1580","title":"Pinta *","synonyms":["Azul","Carate","Empeines","Lota","Mal del Pinto","Tina"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pinta\/"},{"id":"1581","title":"Pityriasis Rosea *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pityriasis-rosea\/"},{"id":"1582","title":"Pityriasis Rubra Pilaris *","synonyms":["Devergie disease","lichen ruber acuminatus","PRP","lichen acuminatus","pityriasis rubra pilaire (Fr.)","lichen ruber pilaris"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pityriasis-rubra-pilaris\/"},{"id":"255934","title":"Pitiriasis Rubra Pilaris *","synonyms":["Enfermedad de Devergie ","PPR "],"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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Disease","PMR"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/polymyalgia-rheumatica\/"},{"id":"1594","title":"Polymyositis and Necrotizing Myopathy *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/polymyositis\/"},{"id":"1595","title":"Pompe Disease *","synonyms":["glycogen storage disease type II (GSD II)","acid maltase deficiency (AMD)","acid alpha-glucosidase (GAA) deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/pompe-disease\/"},{"id":"150909","title":"Enfermedad de Pompe *","synonyms":["Enfermedad por almacenamiento de gluc\u00f3geno tipo II (GSD II) ","Deficiencia de alfa-glucosidasa \u00e1cida (GAA)","Deficiencia de maltasa \u00e1cida (AMD) "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/pompe-disease\/"},{"id":"1596","title":"Pontocerebellar Hypoplasia *","synonyms":["arginyl-tRNA synthetase 2 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*","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/porphyria\/"},{"id":"254287","title":"Porfirias *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/porphyria\/"},{"id":"1598","title":"Porphyria Cutanea Tarda *","synonyms":["UROD deficiency","uroporphyrinogen decarboxylase deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/porphyria-cutanea-tarda\/"},{"id":"1599","title":"Congenital Erythropoietic Porphyria *","synonyms":["CEP","Gunther disease","uroporphyrinogen III synthase deficiency","UROS deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/congenital-erythropoietic-porphyria\/"},{"id":"1600","title":"Post Polio Syndrome *","synonyms":["Polio, Late Effects","Post-Polio Muscular Atrophy","Postpoliomyelitis syndrome","Post-Polio 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precocity"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/precocious-puberty\/"},{"id":"1604","title":"Primary Biliary Cholangitis *","synonyms":["PBC"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/primary-biliary-cholangitis\/"},{"id":"1605","title":"Primary Ciliary Dyskinesia *","synonyms":["immotile cilia syndrome","PCD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/primary-ciliary-dyskinesia\/"},{"id":"259937","title":"Discinesia ciliar primaria *","synonyms":["S\u00edndrome de cilios inm\u00f3viles ","PCD"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/primary-ciliary-dyskinesia\/"},{"id":"1606","title":"Primary Craniosynostosis *","synonyms":["craniostenosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/primary-craniosynostosis\/"},{"id":"1607","title":"Primary Gastric Lymphoma *","synonyms":["non-Hodgkin gastric lymphoma","primary Hodgkin's lymphoma of the stomach","stomach lymphoma, non-Hodgkins type"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/primary-gastric-lymphoma\/"},{"id":"271147","title":"Linfoma g\u00e1strico primario *","synonyms":["Linfoma g\u00e1strico no Hodgkin ","Linfoma de Hodgkin primario del est\u00f3mago ","Linfoma de est\u00f3mago, tipo no Hodgkins"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/primary-gastric-lymphoma\/"},{"id":"1608","title":"Primary Hyperoxaluria *","synonyms":["oxalosis","PH"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/primary-hyperoxaluria\/"},{"id":"256732","title":"Hiperoxaluria primaria *","synonyms":["Oxalosis ","HP"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/primary-hyperoxaluria\/"},{"id":"1609","title":"Primary Intestinal Lymphangiectasia 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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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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 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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"],"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\/rare-diseases\/sinonasal-undifferentiated-carcinoma\/"},{"id":"1720","title":"Sirenomelia *","synonyms":["mermaid syndrome","sirenomelia sequence","sirenomelia syndrome","sirenomelus"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/sirenomelia\/"},{"id":"1722","title":"Mucopolysaccharidosis Type VII *","synonyms":["beta-glucuronidase deficiency","GUSB deficiency","MPS disorder, type VII","MPS VII","MPS 7","mucopolysaccharidosis 7","Sly syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/sly-syndrome\/"},{"id":"1723","title":"Smallpox *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/smallpox\/"},{"id":"271732","title":"Viruela *","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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*","synonyms":["Convulsions","Seizures"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/status-epilepticus\/"},{"id":"1738","title":"Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis *","synonyms":["epidermal necrolysis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/stevens-johnson-syndrome-and-toxic-epidermal-necrolysis\/"},{"id":"1739","title":"Stickler Syndrome *","synonyms":["hereditary arthro-ophthalmopathy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/stickler-syndrome\/"},{"id":"1740","title":"Stiff Person Syndrome *","synonyms":["Moersch-Woltman syndrome","stiff-man syndrome","SMS","SPS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/stiff-person-syndrome\/"},{"id":"150767","title":"S\u00edndrome de la persona r\u00edgida *","synonyms":["S\u00edndrome de Moersch-Woltman ","S\u00edndrome cl\u00e1sico de la persona 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, Congenital"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/congenital-syphilis\/"},{"id":"1754","title":"Syringobulbia *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/syringobulbia\/"},{"id":"1755","title":"Syringomyelia *","synonyms":["hydromyelia","Morvan disease","syringohydromyelia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/syringomyelia\/"},{"id":"1756","title":"Systemic Capillary Leak Syndrome *","synonyms":["Clarkson Syndrome","MG-CLS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/systemic-capillary-leak-syndrome\/"},{"id":"1757","title":"Tangier Disease *","synonyms":["Familial alpha-lipoprotein deficiency","high density lipoproteindeficiency, type 1 (HDLDT1)","high density lipoproteindeficiency, Tangier 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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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 Syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/urticaria-papular\/"},{"id":"1815","title":"Urticaria, Physical *","synonyms":["Autographism","Physical Allergy Urticaria"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/urticaria-physical\/"},{"id":"1816","title":"Usher Syndrome *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/usher-syndrome\/"},{"id":"255490","title":"S\u00edndrome de Usher *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/usher-syndrome\/"},{"id":"1817","title":"Uterine Leiomyosarcoma *","synonyms":["leiomyosarcoma of the uterus"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/uterine-leiomyosarcoma\/"},{"id":"1818","title":"VACTERL Association *","synonyms":["VATER association","VACTER association","VACTERLS 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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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","S\u00edndrome de Weaver-Smith","WS","Crecimiento excesivo relacionado con EZH2"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/weaver-syndrome\/"},{"id":"1840","title":"Granulomatosis with Polyangiitis *","synonyms":["GPA","midline granulomatosis","necrotizing respiratory granulomatosis","granulomatosis","Wegener\u2019s disease (former)","Wegener granulomatosis (former)","Wegener\u2019s granulomatosis (former)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/granulomatosis-with-polyangiitis\/"},{"id":"1841","title":"Weil Syndrome *","synonyms":["Fiedler Disease","Icteric Leptospirosis","Icterohemorrhagic Leptospirosis","Infectious Jaundice","Lancereaux-Mathieu-Weil Spirochetosis","Leptospiral Jaundice","Spirochetal Jaundice","Weil Disease"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/weil-syndrome\/"},{"id":"1842","title":"Weill Marchesani Syndrome 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Weismann-Netter","S\u00edndrome de Weismann Netter Stuhl"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/weismann-netter-stuhl-syndrome\/"},{"id":"1845","title":"Werner Syndrome *","synonyms":["Werner\u2019s syndrome","progeria of adults","WS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/werner-syndrome\/"},{"id":"150613","title":"S\u00edndrome de Werner *","synonyms":["S\u00edndrome de Werner ","Progeria de adultos","SW"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/werner-syndrome\/"},{"id":"1846","title":"Wernicke-Korsakoff Syndrome *","synonyms":["Gayet-Wernicke syndrome","WKS","alcohol-induced encephalopathy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/wernicke-korsakoff-syndrome\/"},{"id":"1847","title":"West Nile Encephalitis *","synonyms":["Eastern equine encephalitis","EEE","Japanese encephalitis","Kunjin 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*","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/trastornos-raros-asociados-a-zc4h2-zard\/"},{"id":"1852","title":"Wiedemann-Rautenstrauch Syndrome *","synonyms":["neonatal progeroid syndrome","neonatal pseudo-hydrocephalic progeroid syndrome of WRS","Rautenstrauch-Wiedemann syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/wiedemann-rautenstrauch-syndrome\/"},{"id":"271575","title":"S\u00edndrome de Wiedemann-Rautenstrauch *","synonyms":["S\u00edndrome progeroide neonatal","WRS","S\u00edndrome de Wiedemann Rautenstrauch","S\u00edndrome de Rautenstrauch-Wiedemann"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/wiedemann-rautenstrauch-syndrome\/"},{"id":"1853","title":"Wildervanck Syndrome *","synonyms":["cervico-oculo-acoustic syndrome","COA syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/wildervanck-syndrome\/"},{"id":"273396","title":"S\u00edndrome de Wildervanck *","synonyms":["S\u00edndrome cervico-oculo-ac\u00fastico","S\u00edndrome COA"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/wildervanck-syndrome\/"},{"id":"1854","title":"Williams Syndrome *","synonyms":["Beuren Syndrome","Early Hypercalcemia Syndrome with Elfin Facies","Elfin Facies with Hypercalcemia","Hypercalcemia-Supravalvar Aortic Stenosis","WBS","Williams-Beuren Syndrome","WMS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/williams-syndrome\/"},{"id":"255304","title":"S\u00edndrome de Williams *","synonyms":["Deleci\u00f3n 7q11.23 "," Monosom\u00eda 7q11.23","S\u00edndrome de 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progresiva"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/wilson-disease\/"},{"id":"1857","title":"Winchester Syndrome *","synonyms":["MMP14-related multicentric osteolysis, nodulosis, and arthropathy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/winchester-syndrome\/"},{"id":"258023","title":"S\u00edndrome de Winchester *","synonyms":["Oste\u00f3lisis multic\u00e9ntrica-nodulosis-artropat\u00eda relacionadas con MMP14"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/winchester-syndrome\/"},{"id":"1858","title":"WNT4 Deficiency *","synonyms":["Biason-Lauber syndrome","Mullerian aplasia and hyperandrogenism","WNT4 Mullerian aplasia","WNT4 syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/wnt4-deficiency\/"},{"id":"1859","title":"Wolf-Hirschhorn Syndrome *","synonyms":["4p- syndrome","Pitt-Rogers-Danks 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*","synonyms":["Bonnet-Dechaumme-Blanc syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/wyburn-mason-syndrome\/"},{"id":"273364","title":"S\u00edndrome de Wyburn-Mason *","synonyms":["S\u00edndrome de Bonnet-Dechaumme-Blanc "],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/wyburn-mason-syndrome\/"},{"id":"1864","title":"X-linked Retinoschisis *","synonyms":["juvenile retinoschisis","XLRS"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/x-linked-juvenile-retinoschisis\/"},{"id":"1865","title":"X linked Lymphoproliferative Syndrome *","synonyms":["Duncan Disease","EBV Susceptibility (EBVS)","Epstein-Barr Virus-Induced Lymphoproliferative Disease in Males","Immunodeficiency-5 (IMD5)","Purtilo Syndrome","X-Linked Progressive Combined Variable Immunodeficiency","XLP"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/x-linked-lymphoproliferative-syndrome\/"},{"id":"1866","title":"X-Linked Myopathy with Excessive Autophagy *","synonyms":["XMEA","myopathy, X-linked, with excessive autophagy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/x-linked-myopathy-with-excessive-autophagy\/"},{"id":"255582","title":"Miopat\u00eda con autofagia excesiva ligada al cromosoma X *","synonyms":["XMEA","Miopat\u00eda ligada al cromosoma X con autofagia excesiva"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/x-linked-myopathy-with-excessive-autophagy\/"},{"id":"1867","title":"X-Linked Myotubular Myopathy *","synonyms":["MTM","myotubular myopathy","XLCNM","x-linked centronuclear 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 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*","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 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","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 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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 involvement"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/adcy5-related-dyskinesia\/"},{"id":"271600","title":"Discinesia relacionada con ADCY5 *","synonyms":["Discinesia con afectaci\u00f3n orofacial"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/adcy5-related-dyskinesia\/"},{"id":"1983","title":"Follicular Lymphoma *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/follicular-lymphoma\/"},{"id":"1984","title":"Esophageal Cancer *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/esophageal-cancer\/"},{"id":"271618","title":"C\u00e1ncer de es\u00f3fago *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/esophageal-cancer\/"},{"id":"1985","title":"Amniotic Fluid Embolism *","synonyms":["anaphylactoid syndrome of 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 syndrome"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/spastic-paraplegia-51\/"},{"id":"270962","title":"Paraplej\u00eda esp\u00e1stica 51 *","synonyms":["SPG51","Paraplej\u00eda esp\u00e1stica hereditaria asociada a AP4E1"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/spastic-paraplegia-51\/"},{"id":"1991","title":"Spastic Paraplegia 52 *","synonyms":["SPG52","<em>AP4S1<\/em>-associated hereditary spastic paraplegia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/spastic-paraplegia-52\/"},{"id":"270722","title":"Paraplej\u00eda esp\u00e1stica 52 *","synonyms":["SPG52","Paraplej\u00eda esp\u00e1stica hereditaria asociada a AP4S1"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/spastic-paraplegia-52\/"},{"id":"1992","title":"AP-4-Associated Hereditary Spastic Paraplegia (AP-4-HSP) *","synonyms":["AP-4 deficiency 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 AP4B1"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/spastic-paraplegia-47\/"},{"id":"1994","title":"Spinal Muscular Atrophy with Respiratory Distress Type 1 *","synonyms":["autosomal recessive distal spinal muscular atrophy 1s","DHMN6","diaphragmatic spinal muscular atrophy","distal hereditary motor neuronopathy type VI","distal spinal muscular atrophy type 1","DSMA1","HMN6","HMNVI","severe infantile axonal neuropathy with respiratory failure","SIANRF","SMARD1","spinal muscular atrophy with respiratory distress type 1"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/spinal-muscular-atrophy-with-respiratory-distress\/"},{"id":"254109","title":"Atrofia muscular espinal con dificultad respiratoria tipo 1 *","synonyms":["Atrofia muscular espinal autos\u00f3mica recesiva con dificultad respiratoria ","Atrofia muscular espinal diafragm\u00e1tica ","Neuropat\u00eda axonal grave del lactante con insuficiencia 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 deficiency","FOLR1 deficiency","neurodegeneration due to cerebral folate transport deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/cerebral-folate-deficiency\/"},{"id":"270751","title":"Deficiencia de folato cerebral *","synonyms":["S\u00edndrome neurodegenerativo por deficiencia de transporte cerebral de folatos ","Deficiencia de transporte cerebral de folatos ","Deficiencia del receptor alfa de folato"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/cerebral-folate-deficiency\/"},{"id":"1998","title":"Complete DiGeorge Syndrome *","synonyms":["cDGS","DiGeorge syndrome with athymia"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/complete-digeorge-syndrome\/"},{"id":"91164","title":"Congenital Athymia *","synonyms":[],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/congenital-athymia\/"},{"id":"255646","title":"Atimia 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 de Takotsubo *","synonyms":["Miocardiopat\u00eda de Tako-Tsubo ","S\u00edndrome de Takotsubo ","Miocardiopat\u00eda por estr\u00e9s ","Miocardiopat\u00eda con abombamiento","Miocardiopat\u00eda con forma de ampolla","S\u00edndrome de Tako-Tsubo ","S\u00edndrome de abombamiento apical ","S\u00edndrome de abombamiento apical transitorio del ventr\u00edculo izquierdo","S\u00edndrome del coraz\u00f3n roto"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/takotsubo-cardiomyopathy\/"},{"id":"2007","title":"Systemic Scleroderma *","synonyms":["systemic sclerosis","progressive systemic sclerosis"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/systemic-scleroderma\/"},{"id":"2008","title":"Palmoplantar Pustulosis *","synonyms":["pustulosis palmaris et plantaris","PPP","localized pustular psoriasis (LPP)","palmoplantar pustular 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 central"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/superficial-siderosis\/"},{"id":"2010","title":"Aromatic L-Amino Acid Decarboxylase Deficiency *","synonyms":["aromatic amino acid decarboxylase deficiency","AADC deficiency","AADCD","DOPA decarboxylase deficiency","DDC deficiency"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/aromatic-l-amino-acid-decarboxylase-deficiency\/"},{"id":"258122","title":"Deficiencia de L-amino\u00e1cido arom\u00e1tico decarboxilasa *","synonyms":["Deficiencia de AADC ","Deficiencia de DOPA descarboxilasa"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/es\/rare-diseases\/aromatic-l-amino-acid-decarboxylase-deficiency\/"},{"id":"2011","title":"GNE Myopathy *","synonyms":["hereditary Inclusion body myopathy","HIBM","h-IBM","IBM2","inclusion body myopathy, autosomal recessive","inclusion body myopathy, quadriceps-sparing","QSM","hereditary inclusion body myopathy","distal myopathy with rimmed vacuoles","DMRV","Nonaka myopathy","rimmed vacuole myopathy","quadriceps sparing myopathy"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/gne-myopathy\/"},{"id":"2012","title":"MN1 C-Terminal Truncation Syndrome *","synonyms":["MCTT syndrome","CEBALID syndrome (craniofacial defects, dysmorphic ears, structural brain abnormalities, expressive Language delay and impaired intellectual development) (OMIM #618774)"],"post_type":"rare-diseases","permalink":"https:\/\/rarediseases.org\/rare-diseases\/mn1-c-terminal-truncation-syndrome\/"},{"id":"259786","title":"S\u00edndrome de truncamiento C-terminal de MN1 *","synonyms":["S\u00edndrome MCTT ","S\u00edndrome CEBALID (defectos craneofaciales, orejas dism\u00f3rficas, anomal\u00edas estructurales del cerebro, retraso del lenguaje expresivo y deterioro del desarrollo intelectual) "],"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 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