CINXE.COM
Diseases | IUPHAR/BPS Guide to PHARMACOLOGY
<!DOCTYPE html PUBLIC "-//W3C//DTD XHTML 1.0 Strict//EN" "http://www.w3.org/TR/xhtml1/DTD/xhtml1-strict.dtd"> <html xmlns="http://www.w3.org/1999/xhtml" lang="en" xml:lang="en"> <head> <script src="js/jquery.min.js"></script> <script src="js/jquery-ui.min.js"></script> <script src="js/jquery.cookie.js" type="text/javascript"></script> <script src="js/jquery.cookiecuttr.js" type="text/javascript"></script> <script src="js/cookie_tracking.js" type="text/javascript"> <script> // Define dataLayer and the gtag function. window.dataLayer = window.dataLayer || []; function gtag(){dataLayer.push(arguments);} // Default ad_storage to 'denied' as a placeholder // Determine actual values based on your own requirements gtag('consent', 'default', { 'ad_storage': 'denied', 'analytics_storage': 'denied', 'ad_user_data': 'denied', 'ad_personalization': 'denied' }); </script> <!-- Global site tag (gtag.js) - Google Analytics --> <script async src="https://www.googletagmanager.com/gtag/js?id=G-2BNY8HSKW5"></script> <script> window.dataLayer = window.dataLayer || []; function gtag(){dataLayer.push(arguments);} gtag('js', new Date()); gtag('config', 'G-2BNY8HSKW5'); // gtag('event', eventName, eventParameters); </script> <script> if (jQuery.cookie('cc_cookie_decline') == "cc_cookie_decline") { // do nothing } else { gtag('consent', 'update', { 'analytics_storage': 'granted' }); } </script> <!-- Google Tag Manager --> <script>(function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start': new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0], j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src= 'https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f); })(window,document,'script','dataLayer','GTM-W2MLL4P');</script> <!-- End Google Tag Manager --> <meta http-equiv="Content-Type" content="text/html; charset=UTF-8"/> <title>Diseases | IUPHAR/BPS Guide to PHARMACOLOGY</title> <meta name="description" content="IUPHAR Guide to PHARMACOLOGY Disease List."/> <link rel="stylesheet" type="text/css" href="css/iuphar.css" /> <link rel="stylesheet" type="text/css" href="css/grac.css" /> <link rel="stylesheet" media="screen" href="superfish/css/superfish.css" /> <link rel="stylesheet" href="css/font-awesome-4.7.0/css/font-awesome.min.css"> <link rel="stylesheet" href="css/cookiecuttr.css"/> <link rel="stylesheet" href="css/text.css" /> <link rel="stylesheet" href="css/960.css" /> <link rel="stylesheet" href="css/graceq.css" /> <link rel="stylesheet" href="css/jquery-ui.min.css"/> <link rel="shortcut icon" href="images/GTP_favicon_lg.ico"/> <script type="text/javascript" src="js/common.js"></script> <script src="js/jquery.min.js"></script> <script src="js/jquery-ui.min.js"></script> <script type="text/javascript" src="js/hideEmptyCols.js"></script> <script src="js/autocomplete.categories.js"></script> <script src="superfish/js/hoverIntent.js"></script> <script src="superfish/js/superfish.js"></script> <script src="superfish/js/supersubs.js"></script> <script> $(document).ready(function(){ $("ul.sf-menu").supersubs({ minWidth: 12, // minimum width of sub-menus in em units maxWidth: 27, // maximum width of sub-menus in em units extraWidth: 1 // extra width can ensure lines don't sometimes turn over // due to slight rounding differences and font-family }).superfish(); // call supersubs first, then superfish, so that subs are // not display:none when measuring. Call before initialising // containing tabs for same reason. }); </script> <script src="js/toggleLayer.js" type="text/javascript"></script> </head> <body> <!-- Global site tag (gtag.js) - Google Analytics --> <!-- Google Tag Manager (noscript) --> <noscript><iframe src="https://www.googletagmanager.com/ns.html?id=GTM-W2MLL4P" height="0" width="0" style="display:none;visibility:hidden"></iframe></noscript> <!-- End Google Tag Manager (noscript) --> <!-- code to display return to top button on scroll down --> <a href="javascript:" id="return-to-top"><p>Top ▲</p></a> <!-- end --> <!-- ========== HEAD SECTION START - DO NOT ADD ANY CONTENT HERE ===================== --> <div class="header"> <div id="header"> <div class="brandandsearchtest"> <!-- <div class="brandandsearch"> --> <div class="newsearchright"> <form class="newmainsearch" method="get" action="/GRAC/DatabaseSearchForward"> <input type="text" id="quick_search" size="14" maxlength="200" name="searchString"/> <input type="hidden" name="searchCategories" value="all"/> <input type="hidden" name="species" value="none"/> <input type="hidden" name="type" value="all"/> <input type="hidden" name="comments" value="includeComments"/> <input type="hidden" name="order" value="rank"/> <!-- <input type="submit" name="submit" value="Search Database" /> --> <button type="submit" aria-label="Search button"><i class="fa fa-search"></i></button> </form> </div> <img alt="gtopdb_logo_and_banner_image" width="720" style="margin-top:15px;margin-bottom:15px;" src="images/gtopdb_banner_2020.png"> </div> <script> $("#quick_search").catcomplete({delay: 300, minLength: 2, source: "/GRAC/autocompleteAll.jsp", focus: function( event, ui ) { // $( "#ligand_text" ).val( ui.item.label ); // do nothing on mouse over return false; }, select: function( event, ui ) { //window.open(ui.item.value); self.location.href = ui.item.value; return false; } }); </script> </div> <!-- =========== END OF HEAD SECTION =================================================== --> <!-- ========== SUPERFISH NAV START ============================================================ --> <div class="mainnavcont"> <div class="mainnavtext"> <ul id="sample-menu-1" class="sf-menu"> <li class="current"> <a href="/">Home</a> </li> <li> <a href="/about.jsp">About</a> <ul> <li><a href="/about.jsp">About The Guide to PHARMACOLOGY</a></li> <li><a href="/nciuphar.jsp">About NC-IUPHAR</a></li> <li><a href="/databaseContent.jsp">Database Content</a></li> <li><a href="/GRAC/ContributorListForward">Contributors</a></li> <li><a href="/sponsors.jsp">Sponsors</a></li> <li><a href="/citing.jsp">Citing</a></li> <li><a href="/linking.jsp">Linking to us</a></li> <!--<li><a href="/faq.jsp">FAQ</a></li>--> <li><a href="/disclaimer.jsp">Disclaimer</a></li> <li><a href="/privacyPolicy.jsp">Privacy and Cookie Policy</a></li> </ul> </li> <li> <a href="/targets.jsp">Targets </a> <ul> <li> <a href="/GRAC/ReceptorFamiliesForward?type=GPCR">GPCRs</a> </li> <li> <a href="/GRAC/ReceptorFamiliesForward?type=IC">Ion channels</a> <ul> <li><a href="/GRAC/ReceptorFamiliesForward?type=IC">LGICs</a></li> <li><a href="/GRAC/ReceptorFamiliesForward?type=IC">VGICs</a></li> <li><a href="/GRAC/ReceptorFamiliesForward?type=IC">Other channels</a></li> </ul> </li> <li> <a href="/GRAC/ReceptorFamiliesForward?type=NHR">Nuclear receptors</a> </li> <li> <a href="/GRAC/FamilyDisplayForward?familyId=698&familyType=ENZYME">Kinases</a> </li> <li> <a href="/GRAC/ReceptorFamiliesForward?type=CATALYTICRECEPTOR">Catalytic receptors</a> </li> <li> <a href="/GRAC/ReceptorFamiliesForward?type=TRANSPORTER">Transporters</a> </li> <li> <a href="/GRAC/ReceptorFamiliesForward?type=ENZYME">Enzymes</a> </li> <li> <a href="/GRAC/ReceptorFamiliesForward?type=OTHER">Other protein targets</a> </li> <li><a href="/GRAC/searchPage.jsp">Target search</a> <ul> <li><a href="/GRAC/searchPage.jsp">Target search tools</a></li> <li><a href="/blast">BLAST</a></li> </ul> </li> </ul> </li> <li> <a href="/GRAC/LigandListForward?type=Approved">Ligands</a> <ul> <li><a href="/GRAC/LigandListForward?type=Approved">Ligand list</a></li> <li><a href="/GRAC/LigandFamiliesForward">Ligand families</a></li> <li><a href="/GRAC/chemSearch.jsp">Ligand search</a></li> </ul> </li> <li> <a href="/GRAC/DiseaseListForward">Diseases</a> </li> <li> <a href="/helpPage.jsp">Resources</a> <ul> <li><a href="/helpPage.jsp">Help</a></li> <li><a href="/GuidetoPHARMACOLOGY_Tutorial.pdf" target="_blank" onClick="recordEvent(this, 'Other files', 'View PDF', 'Tutorial');return false;">Tutorial</a></li> <li><a href="/faq.jsp">FAQ</a></li> <li><a href="/pdfs/termsAndSymbols.pdf" target="_blank" onClick="recordEvent(this, 'Other files', 'View PDF', 'Terms and Symbols');return false;">Terms and symbols</a></li> <li><a href="/nomenclature.jsp">Nomenclature guidelines</a></li> <li><a href="/nciupharPublications.jsp">Publications</a></li> <li><a href="/download.jsp">Downloads</a> <ul> <li><a href="/download.jsp">Download data and reports</a></li> <li><a href="/webServices.jsp">Web services</a></li> <li><a href="/slides.jsp">Slides and posters</a></li> </ul> </li> <li><a href="/news.jsp">News</a> <ul> <li><a href="/immuno/immuphar2018.jsp">Immunopharmacology Meeting 2018</a></li> <li><a href="/news.jsp">Latest news</a></li> <li><a href="/GRAC/HotTopicsForward">Hot topics</a></li> <li><a href="/latestPairings.jsp">Latest pairings</a></li> </ul> </li> <li><a href="https://bpspubs.onlinelibrary.wiley.com/toc/14765381/2023/180/S2" target="_blank" onClick="recordEvent(this, 'BJP links', 'https://bpspubs.onlinelibrary.wiley.com/toc/14765381/2023/180/S2', 'CGTP table of contents');return false;">Concise Guide to PHARMACOLOGY</a></li> <li><a href="/links.jsp">Useful links</a></li> </ul> </li> <li> <a href="/GRAC/searchPage.jsp">Advanced search</a> <ul> <li><a href="/GRAC/searchPage.jsp">Target search</a> <ul> <li><a href="/GRAC/searchPage.jsp">Target search tools</a></li> <li><a href="/blast">BLAST</a></li> </ul> </li> <li><a href="/GRAC/chemSearch.jsp">Ligand search</a></li> <li><a href="/GRAC/pharmacologySearch.jsp">Pharmacology search</a></li> </ul> </li> <li class="immuno_portal"> <a href="/immuno/index.jsp" onClick="recordEvent(this, 'index', 'Menu Link to GtoImmuPdb', 'Link to GtoImmuPdb');return false;">Immuno Portal</a> </li> <li class="gtmp_portal"> <a href="/malaria/index.jsp" onClick="recordEvent(this, 'index', 'Menu Link to GtoMPdb', 'Link to GtoMPdb');return false;">Malaria Portal</a> </li> <!-- <li class="immuno_portal"> <a href="http://www.guidetoimmunopharmacology.org/immuno/index.jsp">Guide to IMMUNOPHARMACOLOGY Portal</a> </li> --> </ul> </div> </div> <div id="dropbar" class="navbar"> <a href="/"> <i class="fa fa-home fa-sm"></i> Home</a> <a href="/about.jsp">About</a> <a href="/helpPage.jsp">Help</a> <div class="navbar-search-container"> <form method="get" action="/GRAC/DatabaseSearchForward" class="search_box_dropbar"> <input type="text" title="Quick Search Box" id="quick_search_dropnav" size="14" maxlength="200" name="searchString" placeholder="Search GtoPdb..."/> <input type="hidden" name="searchCategories" value="all"/> <input type="hidden" name="species" value="none"/> <input type="hidden" name="type" value="all"/> <input type="hidden" name="comments" value="includeComments"/> <input type="hidden" name="order" value="rank"/> <button type="submit" aria-label="Search button"><i class="fa fa-search"></i></button> </form> <script> $("#quick_search_dropnav").catcomplete({delay: 300, minLength: 2, source: "/GRAC/autocompleteAll.jsp", focus: function( event, ui ) { // $( "#ligand_text" ).val( ui.item.label ); // do nothing on mouse over return false; }, select: function( event, ui ) { //window.open(ui.item.value); self.location.href = ui.item.value; return false; } }); </script> </div> </div> </div> <!-- ========== SUPERFISH NAV END ============================================================ --> <div class="container_16"> <!-- ==================== BREADCRUMBS START - NEEDS TO BE UPDATED MANUALLY ==================== --> <div class="breadcrumbscont"> <ul class="crumbtext"> <li><a href="/index.jsp">Home</a></li> <li>Diseases</li> </ul> </div> <!-- ==================== BREADCRUMBS END ======================================== --> <!-- ==================== CONTENT START ==================== --> <div class="grid_12"> <!-- ==================== GRID 16 START ==================== --> <div class="grid_16 alpha"> <a name="top"></a> <h4>The IUPHAR/BPS Guide to PHARMACOLOGY complete disease list</h4> <div class="contentboxfullhelp"> <div id='cssmenu'> <ul> <li class='active'><a href="DiseaseListForward">All Diseases</a></li> <li ><a href="DiseaseListForward?type=Immuno">Immuno Disease</a></li> </ul> </div> <div class="data_tables_container" style="padding-top:20px;"><!-- === DATA TABLES START - this div is only needed to give some space around the tables === --> <!-- Small table to layout help, title and toggle buttons --> <div class="ligcontainer"> <div class="ligleft"> <a class="popup-trigger" rel="nofollow" title="View disease list help"><img id="logo" style="vertical-align:baseline; " src="../images/help_blue_small.png" alt="Click here for help" onmouseover="this.src='../images/help_blue_small.png';" onmouseout="this.src='../images/help_blue_small.png';")"/></a> <div class="popup" style="text-align:left;"> <h3>GtoPdb Disease List</h3> <p>The Guide to PHARMACOLOGY disease list provides a directory of diseases described in the database. Currently two lists are available:<ul><li>All Diseases - all disease with curated information in GtoPdb</li><li>Immuno Diseases - disease of immunological relevance. These are disease that are relevant to immunology or are associated to targets and/or ligands of immunological relevance.</li></ul></p> <p>Click on a disease name to view its summary page</p> <p>The total number of targets and ligands associated with each disease is shown in the lat two columns</p> <p>More information can be found in the <a href="helpPage.jsp#diseasePages">help pages</a>.</p> <span class="popup-btn-close">✖</span> <!-- add wee help video <p><video align="center" width="380" controls="true" autoplay="false" > <source src="videos/gtoimmupdb_processes_v1.mp4" type="video/mp4"> </video></p> --> </div> </div> <div class="ligcentre"> All diseases described in GtoPdb. </div> </div> <p style="text-align:center;"> <a style="font-weight:bold;font-size:110%" href="#A">A</a> <a style="font-weight:bold;font-size:110%" href="#B">B</a> <a style="font-weight:bold;font-size:110%" href="#C">C</a> <a style="font-weight:bold;font-size:110%" href="#D">D</a> <a style="font-weight:bold;font-size:110%" href="#E">E</a> <a style="font-weight:bold;font-size:110%" href="#F">F</a> <a style="font-weight:bold;font-size:110%" href="#G">G</a> <a style="font-weight:bold;font-size:110%" href="#H">H</a> <a style="font-weight:bold;font-size:110%" href="#I">I</a> <a style="font-weight:bold;font-size:110%" href="#J">J</a> <a style="font-weight:bold;font-size:110%" href="#K">K</a> <a style="font-weight:bold;font-size:110%" href="#L">L</a> <a style="font-weight:bold;font-size:110%" href="#M">M</a> <a style="font-weight:bold;font-size:110%" href="#N">N</a> <a style="font-weight:bold;font-size:110%" href="#O">O</a> <a style="font-weight:bold;font-size:110%" href="#P">P</a> <a style="font-weight:bold;font-size:110%" href="#Q">Q</a> <a style="font-weight:bold;font-size:110%" href="#R">R</a> <a style="font-weight:bold;font-size:110%" href="#S">S</a> <a style="font-weight:bold;font-size:110%" href="#T">T</a> <a style="font-weight:bold;font-size:110%" href="#U">U</a> <a style="font-weight:bold;font-size:110%" href="#V">V</a> <a style="font-weight:bold;font-size:110%" href="#W">W</a> <a style="font-weight:bold;font-size:110%" href="#X">X</a> <a style="font-weight:bold;font-size:110%" href="#Y">Y</a> </p> <table class="receptor_data_tables" style="table-layout: fixed;width:100%;margin:0px;padding:0px;"> <colgroup> <col style="min-width:250px;width:360px;"> <!-- <col style="min-width:50px;width:200px;"> --> <col style="min-width:360px;"> <col style="min-width:60px;width:60px;"> <col style="min-width:60px;width:60px;"> </colgroup> <thead> <tr> <td class="heading">Disease name</td> <!-- <td class="heading">ID</td> --> <td class="heading">Synonyms</td> <td class="heading" title="Number of targets associated to disease">Targets</td> <td class="heading" title="Number of ligands associated to disease">Ligands</td> </tr> </thead> <tbody> <tr> <td class="info" style="border-right:none;" colspan="2"><a style="font-size:110%;font-weight:bold;color:black;" name="A">A</a></td> <td class="info" style="text-align:right; border-left:none;" colspan="2"><a style="font-weight:normal;font-size:95%;" href="#top">Back to top</a></td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=17">ABCD syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=18">Abdominal obesity-metabolic syndrome 1; AOMS1</a> </td> <td class="info" > Metabolic syndrome X </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1118">Abdominal obesity-metabolic syndrome 3; AOMS3</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1020">Abnormal pregnancies</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=19">Absence epilepsy</a> </td> <td class="info" > early onset absence epilepsy </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1249">Acatalasemia</a> </td> <td class="info" > acatalasia <b>|</b> catalase deficiency <b>|</b> Takahara disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=20">Acetyl-CoA acetyltransferase-2 deficiency; ACAT2D</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=21">Achondroplasia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=22">Achromatopsia 2; ACHM2</a> </td> <td class="info" > Achromatopsia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=23">Achromatopsia 3; ACHM3</a> </td> <td class="info" > Achromatopsia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=24">Acne inversa, familial, 3; ACNINV3</a> </td> <td class="info" > Hidradenitis suppurativa </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1255">Acne vulgaris</a> </td> <td class="info" > adult acne </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1259">Acrodermatitis enteropathica</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=26">Acrodysostosis 1 with or without hormone resistance; ACRDYS1</a> </td> <td class="info" > Acrodysostosis <b>|</b> Acrodysostosis with multiple hormone resistance </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=27">Acromegaly</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=28">Acromesomelia and painful neuropathy</a> </td> <td class="info" > acromesomelic dysplasia <b>|</b> neuropathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1199">Activated PI3K delta syndrome</a> </td> <td class="info" > APDS/PASLI <b>|</b> Immunodeficiency 14 <b>|</b> p110 delta activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency </td> <td class="info" > 1 </td> <td class="info" > 3 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=29">Acute biphenotypic leukemia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=31">Acute encephalopathy with biphasic seizures and late reduced diffusion</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1172">Acute lymphocytic leukemia (ALL)</a> </td> <td class="info" > Acute lymphoblastic leukemia </td> <td class="info" > 3 </td> <td class="info" > 2 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=32">Acute myeloblastic leukemia with maturation</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=33">Acute myeloblastic leukemia without maturation</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=34">Acute myeloid leukemia</a> </td> <td class="info" > Acute myelogenous leukemia </td> <td class="info" > 6 </td> <td class="info" > 5 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=35">Acute myeloid leukemia with abnormal bone marrow eosinophils</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=36">Acute myeloid leukemia with t(8;16)(p11;p13) translocation</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=37">Acute myeloid leukemia with t(8;21)(q22;q22) translocation</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=38">Acute myelomonocytic leukemia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1261">Acute pancreatitis</a> </td> <td class="info" > </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=39">Acute promyelocytic leukemia; APL</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1035">Addison disease</a> </td> <td class="info" > Hypoadrenocorticism, familial </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=40">Adolescent idiopathic scoliosis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=41">Adrenal hypoplasia, congenital; AHC</a> </td> <td class="info" > Addison's disease <b>|</b> Adrenal hypoplasia, cytomegalic type <b>|</b> Cytomegalic congenital adrenal hypoplasia <b>|</b> hypoadrenalism <b>|</b> primary/chronic adrenal insufficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=42">Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete</a> </td> <td class="info" > 46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency <b>|</b> Congenital adrenal insufficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=43">Adrenocortical insufficiency</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1225">Adult T-cell leukemia</a> </td> <td class="info" > Adult T-cell leukemia/lymphoma <b>|</b> ATLL </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=44">Advanced sleep-phase syndrome, familial, 2; FASPS2</a> </td> <td class="info" > Advanced sleep phase syndrome <b>|</b> Familial advanced sleep-phase syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1250">Agammaglobulinemia, autosomal recessive</a> </td> <td class="info" > agammaglobulinemia 7 <b>|</b> agammaglobulinemia, non-Bruton type <b>|</b> AGM7 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1144">Agammaglobulinemia 6, Autosomal recessive; AGM6</a> </td> <td class="info" > Agammaglobulinemia <b>|</b> Autosomal agammaglobulinemia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=45">Agammaglobulinemia, X-linked</a> </td> <td class="info" > Bruton-type agammaglobulinemia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1153">Alagille syndrome 2; ALGS2</a> </td> <td class="info" > Alagille syndrome <b>|</b> Alagille syndrome due to a NOTCH2 point mutation </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=47">Aland Island eye disease; AIED</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=48">Alcohol dependence</a> </td> <td class="info" > </td> <td class="info" > 6 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1159">Alcoholic liver disease</a> </td> <td class="info" > alcoholic hepatosteatosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=49">Alcohol sensitivity</a> </td> <td class="info" > acetaldehyde dehydrogenase deficiency <b>|</b> alcohol flush reaction </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=50">Aldosterone-producing adenoma</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=51">Aleukemic mast cell leukemia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=52">ALK-positive anaplastic large cell lymphoma</a> </td> <td class="info" > Anaplastic large cell lymphoma </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=53">ALK-positive large B-cell lymphoma</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1193">Allergic conjunctivitis</a> </td> <td class="info" > </td> <td class="info" > 0 </td> <td class="info" > 8 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1190">Allergic rhinitis</a> </td> <td class="info" > atopic rhinitis <b>|</b> hay fever <b>|</b> Non-seasonal allergic rhinitis <b>|</b> Perenial allergic rhinitis <b>|</b> pollenosis <b>|</b> seasonal allergic rhinitis </td> <td class="info" > 0 </td> <td class="info" > 13 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1191">Allergic urticaria</a> </td> <td class="info" > hives </td> <td class="info" > 0 </td> <td class="info" > 10 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1260">Allograft rejection</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 4 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1200">Alopecia areata</a> </td> <td class="info" > circumscribed alopecia </td> <td class="info" > 0 </td> <td class="info" > 3 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1174">Alpha-1 antitrypsin deficiency (A1ATD)</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=54">Alpha-methylacetoacetic aciduria</a> </td> <td class="info" > Beta-ketothiolase deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=55">Alternating hemiplegia of childhood 1; AHC1</a> </td> <td class="info" > Alternating hemiplegia of childhood </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=56">Alzheimer disease</a> </td> <td class="info" > Alzheimer's disease </td> <td class="info" > 8 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=57">Alzheimer disease 3</a> </td> <td class="info" > Alzheimer's disease <b>|</b> Early-onset autosomal dominant Alzheimer disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=58">Alzheimer disease 4</a> </td> <td class="info" > Alzheimer's disease <b>|</b> Early-onset autosomal dominant Alzheimer disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=60">Amelogenesis imperfecta, hypomaturation type, IIA1; AI2A1</a> </td> <td class="info" > Amelogenesis imperfecta <b>|</b> Hypomaturation amelogenesis imperfecta </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=59">Amelogenesis imperfecta, hypomaturation type, IIA2; AI2A2</a> </td> <td class="info" > Amelogenesis imperfecta <b>|</b> Hypomaturation amelogenesis imperfecta </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=976">Amelogenesis imperfecta, hypomaturation type, IIA5; AI2A5</a> </td> <td class="info" > Amelogenesis imperfecta <b>|</b> Hypomaturation amelogenesis imperfecta </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=61">Amyotrophic lateral sclerosis</a> </td> <td class="info" > </td> <td class="info" > 3 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=63">Amyotrophic lateral sclerosis 19; ALS19</a> </td> <td class="info" > Amyotrophic lateral sclerosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=62">Amyotrophic lateral sclerosis 16, juvenile; ALS16</a> </td> <td class="info" > Juvenile amyotrophic lateral sclerosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=65">Amyotrophic lateral sclerosis-parkinsonism-dementia complex</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=64">Amyotrophic lateral sclerosis with frontotemporal dementia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1003">Amyotrophic lateral sclerosis 22 with or without frontotemoral dementia; ALS22</a> </td> <td class="info" > Amyotrophic lateral sclerosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1188">Anaphylactic shock</a> </td> <td class="info" > hypersensitivity reaction disease </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1215">Anaplastic large cell lymphoma</a> </td> <td class="info" > </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=67">Andersen-Tawil syndrome</a> </td> <td class="info" > Andersen cardiodysrhythmic periodic paralysis <b>|</b> Andersen's syndrome <b>|</b> Andersen syndrome <b>|</b> Cardiodysrhythmic potassium-sensitive periodic paralysis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=68">Androgen insensitivity syndrome; AIS</a> </td> <td class="info" > Complete androgen insensitivity syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=69">Angelman syndrome</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=70">Angina pectoris</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=423">Angioedema, hereditary, type III; HAE3</a> </td> <td class="info" > Hereditary angioedema <b>|</b> Hereditary angioedema type 3 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=71">Angioedema induced by ACE inhibitors, susceptibility to; AEACEI</a> </td> <td class="info" > Renin-angiotensin-aldosterone system-blocker-induced angioedema </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1196">Ankylosing spondylitis</a> </td> <td class="info" > Bekhterev syndrome <b>|</b> Marie-Strumpell disease </td> <td class="info" > 0 </td> <td class="info" > 14 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=72">Anosmia, isolated congenital; ANIC</a> </td> <td class="info" > Congenital anosmia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=73">Antiphospholipid syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=74">Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1127">Anxiety</a> </td> <td class="info" > </td> <td class="info" > 3 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=75">Aortic aneurysm, familial abdominal, 1; AAA1</a> </td> <td class="info" > Familial abdominal aortic aneurysm <b>|</b> Familial thoracic aortic aneurysm and aortic dissection </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=76">Aortic aneurysm, familial thoracic 7; AAT7</a> </td> <td class="info" > Familial thoracic aortic aneurysm and aortic dissection <b>|</b> thoracic aortic aneurysm </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=77">Aortic aneurysm, familial thoracic 8; AAT8</a> </td> <td class="info" > Familial thoracic aortic aneurysm and aortic dissection <b>|</b> thoracic aortic aneurysm </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=78">Apert syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=79">Aromatase deficiency</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=80">Aromatase excess syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=81">Aromatic L-amino acid decarboxylase deficiency</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1268">Arrhythmogenic cardiomyopathy</a> </td> <td class="info" > </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=82">Arterial hypertension</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=83">Arteriosclerosis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1274">Arthrogryposis multiplex congenita</a> </td> <td class="info" > lethal congenital contracture syndrome-9 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1078">Aspergillosis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=84">Aspirin exacerbated respiratory diseases</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1184">Asthma</a> </td> <td class="info" > </td> <td class="info" > 7 </td> <td class="info" > 78 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=89">Asthma-related traits, susceptibility to, 5</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=86">Asthma, susceptibility to</a> </td> <td class="info" > </td> <td class="info" > 12 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=87">Asthma, susceptibility to, 1</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=88">Asthma, susceptibility to, 2</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=90">Ataxia-telangiectasia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=91">Ataxia-telangiectasia variant</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=92">Atherosclerosis susceptibility</a> </td> <td class="info" > </td> <td class="info" > 7 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=93">Athyreosis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=94">Atopic dermatitis</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 17 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1180">Atrial Fibrillation</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=97">Atrial fibrillation, familial, 10; ATFB10</a> </td> <td class="info" > Familial atrial fibrillation </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=999">Atrial fibrillation, familial, 12; ATFB12</a> </td> <td class="info" > Familial atrial fibrillation </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=98">Atrial fibrillation, familial, 3; ATFB3</a> </td> <td class="info" > Familial atrial fibrillation </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=99">Atrial fibrillation, familial, 7; ATFB7</a> </td> <td class="info" > Familial atrial fibrillation </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=100">Atrial fibrillation, familial, 9; ATFB9</a> </td> <td class="info" > Familial atrial fibrillation </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=96">Atrial stand still</a> </td> <td class="info" > Atrial cardiomyopathy with heart block </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=101">Atypical chronic myeloid leukemia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=102">Atypical Rett syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=104">Autism</a> </td> <td class="info" > Autism spectrum disorder </td> <td class="info" > 4 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=105">Autoimmune disease</a> </td> <td class="info" > hypersensitivity reaction disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=977">Autoimmune lymphoproliferative syndrome; ALPS</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=108">Autoimmune lymphoproliferative syndrome, type IIA; ALPS2A</a> </td> <td class="info" > Autoimmune lymphoproliferative syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=106">Autoimmune lymphoproliferative syndrome, type III; ALPS3</a> </td> <td class="info" > Autoimmune lymphoproliferative syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1145">Autoimmune lymphoproliferative syndrome, type V; ALPS5</a> </td> <td class="info" > Autoimmune lymphoproliferative syndrome <b>|</b> CTLA4 haploinsuffiency with autoimmune infiltration; CHAI </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=107">Autoimmune lymphoproliferative syndrome with recurrent viral infections</a> </td> <td class="info" > Autoimmune lymphoproliferative syndrome <b>|</b> Autoimmune lymphoproliferative syndrome, type IIB; ALPS2B <b>|</b> Caspase 8 deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1024">Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia; APS1</a> </td> <td class="info" > Autoimmune polyendocrine syndrome type 1 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1211">Autoimmune thrombocytopenic purpura</a> </td> <td class="info" > idiopathic thrombocytopenic purpura <b>|</b> Immune thrombocytopenia <b>|</b> Immune thrombocytopenic purpura <b>|</b> ITP <b>|</b> primary immune thrombocytopenia <b>|</b> primary thrombocytopenic purpura </td> <td class="info" > 0 </td> <td class="info" > 5 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1038">Autoimmune thyroid disorders</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1050">Autoinflammation with infantile enterocolitis; AIFEC</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=115">Autosomal dominant hyperinsulinism due to Kir6.2 deficiency</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=451">Autosomal dominant hyperinsulinism due to SUR1 deficiency</a> </td> <td class="info" > Hyperinsulinemic hypoglycemia <b>|</b> Hyperinsulinemic hypoglycemia, familial, 1; HHF1 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=117">Autosomal recessive centronuclear myopathy</a> </td> <td class="info" > Centronuclear myopathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=120">Autosomal recessive hyperinsulinism due to Kir6.2 deficiency</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=452">Autosomal recessive hyperinsulinism due to SUR1 deficiency</a> </td> <td class="info" > Hyperinsulinemic hypoglycemia <b>|</b> Hyperinsulinemic hypoglycemia, familial, 1; HHF1 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=124">Autosomal recessive systemic lupus erythematosus</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1256">Axial spondyloarthritis</a> </td> <td class="info" > Axial SpA </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1216">Azoospermia</a> </td> <td class="info" > </td> <td class="info" > 0 </td> <td class="info" > 0 </td> </tr> <tr> <td colspan="3"> </td> </tr> <tr> <td class="info" style="border-right:none;" colspan="2"><a style="font-size:110%;font-weight:bold;color:black;" name="B">B</a></td> <td class="info" style="text-align:right; border-left:none;" colspan="2"><a style="font-weight:normal;font-size:95%;" href="#top">Back to top</a></td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1045">Bare lymphocyte syndrome, type II</a> </td> <td class="info" > Immunodeficiency by defective expression of HLA class 2 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=126">Bartter syndrome, antenatal, type 1</a> </td> <td class="info" > Antenatal Bartter syndrome <b>|</b> Bartter disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=127">Bartter syndrome, antenatal, type 2</a> </td> <td class="info" > Antenatal Bartter syndrome <b>|</b> Bartter disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1131">Basal cell carcinoma</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=128">Basal ganglia calcification, idiopathic, 4; IBGC4</a> </td> <td class="info" > Basal ganglia calcification <b>|</b> Bilateral striopallidodentate calcinosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1134">B-cell chronic lymphocytic leukemia</a> </td> <td class="info" > B-CLL <b>|</b> lymphoplasmacytic leukemia <b>|</b> small lymphocytic lymphoma </td> <td class="info" > 2 </td> <td class="info" > 5 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1048">B-cell lymphoma</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 3 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=130">B-cell non-hodgkin lymphoma</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=131">Beare-Stevenson cutis gyrata syndrome</a> </td> <td class="info" > Cutis gyrata - acanthosis nigricans - craniosynostosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1030">Beckwith-Wiedemann syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=132">Behavioral variant of frontotemporal dementia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1052">Behcet syndrome</a> </td> <td class="info" > Behçet disease <b>|</b> Behcet's disease </td> <td class="info" > 3 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=133">Benign Adult Familial Myoclonic Epilepsy</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=134">Benign essential blepharospasm</a> </td> <td class="info" > Blepharospasm </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=136">Benign familial infantile epilepsy</a> </td> <td class="info" > Benign familial infantile convulsions <b>|</b> Benign familial infantile seizures </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=141">Benign paroxysmal torticollis of infancy</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=142">Benign Samaritan congenital myopathy</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=143">Bent bone dysplasia syndrome</a> </td> <td class="info" > FGFR2-related bent bone dysplasia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=144">Bilateral frontoparietal polymicrogyria</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=145">Bilateral renal dysplasia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=148">Birk-Barel mental retardation dysmorphism syndrome</a> </td> <td class="info" > Birk-Barel syndrome <b>|</b> Intellectual disability, Birk-Barel type </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=149">Bladder cancer</a> </td> <td class="info" > </td> <td class="info" > 3 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1015">Blau syndrome; BLAUS</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=760">Bleeding disorder, platelet-type, 8; BDPLT8</a> </td> <td class="info" > P2Y12 defect </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=150">Bleeding disorder, platelet-type, 13, susceptibility to</a> </td> <td class="info" > Bleeding diathesis due to thromboxane synthesis deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=151">Body mass index quantitative trait locus 10; BMIQ10</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1046">Bone density defects</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=152">Bone mineral density, low, susceptibility to</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=153">Bone resorption</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1151">Bosch-Boonstra-Schaaf optic atrophy syndrome; BBSOAS</a> </td> <td class="info" > Optic atrophy-intellectual disability syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1089">Brachydactyly-mental retardation syndrome; BDMR</a> </td> <td class="info" > 2q37 microdeletion syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=155">Brachydactyly, type A2; BDA2</a> </td> <td class="info" > Brachydactyly </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=156">Brachydactyly, type B1; BDB1</a> </td> <td class="info" > Brachydactyly <b>|</b> Brachydactyly type B </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=154">Brachydactyly, type C; BDC</a> </td> <td class="info" > Brachydactyly </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=157">Brachyolmia type 3</a> </td> <td class="info" > Autosomal dominant brachyolmia <b>|</b> Brachyolmia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1160">Bradyopsia</a> </td> <td class="info" > PERRS <b>|</b> prolonged electroretinal response suppression </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=158">Brain dopamine-serotonin vesicular transport disease</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=159">Branched-chain ketoacid dehydrogenase kinase deficiency</a> </td> <td class="info" > Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=160">Breast cancer</a> </td> <td class="info" > </td> <td class="info" > 18 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=164">Bronchial asthma</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=165">Bronchiectasis with or without elevated sweat chloride 1, BESC1</a> </td> <td class="info" > Bronchiectasis <b>|</b> Idiopathic bronchiectasis </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1139">Bronchiectasis with or without elevated sweat chloride 2; BESC2</a> </td> <td class="info" > Bronchiectasis <b>|</b> Idiopathic bronchiectasis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1142">Bronchiectasis with or without elevated sweat chloride 3; BESC3</a> </td> <td class="info" > Bronchiectasis <b>|</b> Idiopathic bronchiectasis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1189">Bronchospasm</a> </td> <td class="info" > bronchial disease </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=166">Brugada syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=167">Brugada syndrome 1; BRGDA1</a> </td> <td class="info" > Brugada syndrome </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=168">Brugada syndrome 3; BRGDA3</a> </td> <td class="info" > Brugada syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=169">Brugada syndrome 8; BRGDA8</a> </td> <td class="info" > Brugada syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1163">Brugada syndrome 9; BRGDA9</a> </td> <td class="info" > Brugada syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1097">Brunner syndrome</a> </td> <td class="info" > Monoamine oxidase A deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=170">Budd-Chiari syndrome</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=171">Bullous diffuse cutaneous mastocytosis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1246">Bullous pemphigoid</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=172">Butyrylcholinesterase deficiency</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td colspan="3"> </td> </tr> <tr> <td class="info" style="border-right:none;" colspan="2"><a style="font-size:110%;font-weight:bold;color:black;" name="C">C</a></td> <td class="info" style="text-align:right; border-left:none;" colspan="2"><a style="font-weight:normal;font-size:95%;" href="#top">Back to top</a></td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=173">Camptodactyly, tall stature, and hearing loss syndrome</a> </td> <td class="info" > Camptodactyly - tall stature - scoliosis - hearing loss </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=174">Cancer</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1058">Candidemia</a> </td> <td class="info" > Candidiasis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=109">CANDLE syndrome</a> </td> <td class="info" > Autoinflammation, lipodystrophy, and dermatosis syndrome <b>|</b> Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=175">Cantu Syndrome</a> </td> <td class="info" > Hypertrichotic osteochondrodysplasia, Cantu type </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=176">Carboxypeptidase N deficiency</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=177">Cardiac arrhythmia</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1119">Cardiac conduction disease with or without dilated cardiomyopathy; CCDD</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=179">Cardiac hypertrophy</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=180">Cardiofaciocutaneous syndrome 1; CFC1</a> </td> <td class="info" > Cardiofaciocutaneous syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=978">Cardiofaciocutaneous syndrome 2; CFC2</a> </td> <td class="info" > Cardiofaciocutaneous syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=181">Cardiofaciocutaneous syndrome 3; CFC3</a> </td> <td class="info" > Cardiofaciocutaneous syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=182">Cardiofaciocutaneous syndrome 4; CFC4</a> </td> <td class="info" > Cardiofaciocutaneous syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=183">Cardiomyopathy, dilated, 1E; CMD1E</a> </td> <td class="info" > Dilated cardiomyopathy <b>|</b> Familial isolated dilated cardiomyopathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=184">Cardiomyopathy, dilated, 1G; CMD1G</a> </td> <td class="info" > Dilated cardiomyopathy <b>|</b> Familial isolated dilated cardiomyopathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1000">Cardiomyopathy, dilated, 1O; CMD1O</a> </td> <td class="info" > Dilated cardiomyopathy <b>|</b> Familial isolated dilated cardiomyopathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=185">Cardiomyopathy, dilated, 1U; CMD1U</a> </td> <td class="info" > Dilated cardiomyopathy <b>|</b> Familial isolated dilated cardiomyopathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=186">Cardiomyopathy, dilated, 1V; CMD1V</a> </td> <td class="info" > Dilated cardiomyopathy <b>|</b> Familial isolated dilated cardiomyopathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=360">Cardiomyopathy, familial hypertrophic, 1; CMH1</a> </td> <td class="info" > Familial hypertrophic cardiomyopathy <b>|</b> Familial isolated hypertrophic cardiomyopathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=187">Cardiomyopathy, familial hypertrophic 6; CMH6</a> </td> <td class="info" > Familial hypertrophic cardiomyopathy <b>|</b> Familial isolated hypertrophic cardiomyopathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=188">Cardiomyopathy, familial hypertrophic, 9; CMH9</a> </td> <td class="info" > Familial hypertrophic cardiomyopathy <b>|</b> Familial isolated hypertrophic cardiomyopathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=189">Cardiovascular disease</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=190">Carney complex, type 1; CNC1</a> </td> <td class="info" > Carney complex </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=191">Carotid intimal medial thickness 1</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=192">Cataract 26, multiple types; CTRCT26</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=195">Caudal agenesis type II</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1031">Celiac disease</a> </td> <td class="info" > </td> <td class="info" > 3 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1146">Celiac disease, susceptibility to, 3; CELIAC3</a> </td> <td class="info" > Celiac disease <b>|</b> Gluten-sensitive enteropathy, susceptibility to, 3 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=196">Central areolar choroidal dystrophy</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=197">Central core disease of muscle</a> </td> <td class="info" > Central core disease <b>|</b> Central core myopathy <b>|</b> Moderate multiminicore disease with hand involvement </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=198">Central hypoventilation syndrome, congenital; CCHS</a> </td> <td class="info" > Haddad syndrome <b>|</b> Ondine-Hirschsprung disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=199">Cerebellar ataxia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=200">Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant; ADCADN</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1157">Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy; CADASIL</a> </td> <td class="info" > Hereditary multi-infarct dementia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=584">Cerebral malaria</a> </td> <td class="info" > Malaria, susceptibility to </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=201">Cerebral sinovenous thrombosis</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=202">Cerebrovascular disease</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=203">Ceroid lipofuscinosis, neuronal, 10</a> </td> <td class="info" > Cathepsin D deficiency <b>|</b> CLN10 disease <b>|</b> Neuronal ceroid lipofuscinosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=204">Ceroid lipofuscinosis, neuronal, 13</a> </td> <td class="info" > CLN13 disease <b>|</b> Neuronal ceroid lipofuscinosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=205">Cervical cancer</a> </td> <td class="info" > </td> <td class="info" > 4 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=206">Cervical dystonia</a> </td> <td class="info" > Autosomal dominant cervical dystonia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=207">Channelopathy-associated congenital insensitivity to pain</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1289">CHAPLE disorder; CD55 deficiency with hyper-activation of complement, angiopathic thrombosis, and severe protein-losing enteropathy (PLE)</a> </td> <td class="info" > </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1271">Charcot-Marie-Tooth disease type 2A</a> </td> <td class="info" > CMT2A2B </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=208">Charcot-Marie-Tooth disease, X-linked dominant, 6</a> </td> <td class="info" > X-linked Charcot-Marie-Tooth disease type 6 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=209">Chiari II malformation</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=969">Childhood absence epilepsy</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=30">Childhood acute lymphoblastic leukemia</a> </td> <td class="info" > acute lymphocytic leukemia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=212">Chondrodysplasia, acromesomelic, with genital anomalies</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=213">Chondrodysplasia, Blomstrand type; BOCD</a> </td> <td class="info" > Blomstrand lethal chondrodysplasia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=211">Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia</a> </td> <td class="info" > X-linked dominant chondrodysplasia, Chassaing-Lacombe type </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=216">Chromosome 16p13.3 deletion syndrome</a> </td> <td class="info" > Rubinstein-Taybi syndrome due to 16p13.3 microdeletion </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=217">Chromosome 1p36 deletion syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=526">Chromosome 10q23 deletion syndrome</a> </td> <td class="info" > Juvenile polyposis of infancy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=215">Chromosome 15q13.3 deletion syndrome</a> </td> <td class="info" > 15q13.3 microdeletion syndrome <b>|</b> Chromosome 15q13.3 microdeletion syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=289">Chromosome 22q11.2 deletion syndrome, distal</a> </td> <td class="info" > Distal 22q11.2 microdeletion syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=214">Chromosome 15q11-q13 duplication syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1223">Chronic granulomatous disease</a> </td> <td class="info" > Bridges-Good syndrome <b>|</b> CGD <b>|</b> Congenital dysphagocytosis <b>|</b> Quie syndrome </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1232">Chronic idiopathic urticaria</a> </td> <td class="info" > </td> <td class="info" > 0 </td> <td class="info" > 2 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=218">Chronic lymphocytic leukemia</a> </td> <td class="info" > B-cell chronic lymphocytic leukemia <b>|</b> Chronic lymphatic leukemia <b>|</b> Chronic lymphoid leukemia </td> <td class="info" > 4 </td> <td class="info" > 11 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1224">Chronic myelogenous leukemia</a> </td> <td class="info" > chronic granulocytic leukemia <b>|</b> CML <b>|</b> myeloid leukemia, chronic </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=220">Chronic myeloid leukemia</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=221">Chronic myelomonocytic leukemia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=222">Chronic neuropathic pain</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=223">Chronic neutrophilic leukemia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1187">Chronic obstructive pulmonary disease</a> </td> <td class="info" > </td> <td class="info" > 0 </td> <td class="info" > 42 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1026">CINCA syndrome</a> </td> <td class="info" > Chronic infantile neurological cutaneous articular syndrome </td> <td class="info" > 1 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=226">Classical phenylketonuria</a> </td> <td class="info" > Phenylketonuria </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=225">Classic mast cell leukemia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=227">Cocoon syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=228">Coenzyme Q10 deficiency, primary, 4</a> </td> <td class="info" > Autosomal recessive ataxia due to ubiquinone deficiency <b>|</b> Coenzyme Q10 deficiency disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=229">Coffin-Lowry syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=230">Coffin-Siris syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=231">Cognitive impairment with or without cerebellar ataxia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1253">Cold agglutinin disease</a> </td> <td class="info" > autoimmune hemolytic anemia <b>|</b> chronic cold agglutinin disease <b>|</b> cold agglutinin syndrome </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=232">Colitis</a> </td> <td class="info" > </td> <td class="info" > 3 </td> <td class="info" > 5 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=233">Colorectal cancer</a> </td> <td class="info" > </td> <td class="info" > 18 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=234">Colorectal cancer, hereditary nonpolyposis, type 6; HNPCC6</a> </td> <td class="info" > Hereditary nonpolyposis colon cancer </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=235">Combined cervical dystonia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1178">Combined immunodeficiency</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=488">Common variable immunodeficiency</a> </td> <td class="info" > </td> <td class="info" > 3 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=237">Complement component C1r/C1s deficiency</a> </td> <td class="info" > Immunodeficiency due to an early component of complement deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=238">Complement component C1s deficiency</a> </td> <td class="info" > Immunodeficiency due to an early component of complement deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1101">Complement factor B deficiency; CFBD</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1149">Complement factor D deficiency; CFDD</a> </td> <td class="info" > Factor D deficiency <b>|</b> Recurrent Neisseria infections due to factor D deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1021">Complete hydatidiform mole</a> </td> <td class="info" > Hydatidiform mole, recurrent, 1; HYDM1 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=239">Cone-rod dystrophy 6; CORD6</a> </td> <td class="info" > Cone rod dystrophy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=240">Cone-rod dystrophy 9; CORD9</a> </td> <td class="info" > Cone rod dystrophy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=241">Cone-rod dystrophy, X-linked, 3; CORDX3</a> </td> <td class="info" > Cone rod dystrophy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=243">Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency</a> </td> <td class="info" > Congenital adrenal hyperplasia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=242">Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency</a> </td> <td class="info" > Congenital adrenal hyperplasia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=244">Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase type II deficiency</a> </td> <td class="info" > Congenital adrenal hyperplasia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=245">Congenital amegakaryocytic thrombocytopenia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1121">Congenital anomalies of kidney and urinary tract, susceptibility to; CAKUT</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=246">Congenital bilateral absence of vas deferens</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1273">Congenital bilateral aplasia of the vas deferens</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1152">Congenital heart defects, multiple types, 4; CHTD4</a> </td> <td class="info" > Complete atrioventricular canal <b>|</b> Partial atrioventricular canal </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=248">Congenital hyperaldosteronism</a> </td> <td class="info" > </td> <td class="info" > 0 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1279">Congenital hyperinsulinemic hypoglycemia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=249">Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi</a> </td> <td class="info" > CLOVE syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=250">Congenital mesoblastic nephroma</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=252">Congenital non-bullous ichthyosiform erythroderma</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1212">Congenital stationary night blindness</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1040">Congenital toxoplasmosis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1130">Corneal dystrophy, Fleck</a> </td> <td class="info" > CFD <b>|</b> corneal dystrophy, Francois-Neetens speckled ro flecked </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1001">Corneal dystrophy, gelatinous drop-like; GDLD</a> </td> <td class="info" > Gelatinous drop-like corneal dystrophy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1034">Corneal intraepithelial dyskeratosis and ectodermal dysplasia; CIDED</a> </td> <td class="info" > Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=254">Cornelia de Lange syndrome 5</a> </td> <td class="info" > Cornelia de Lange syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=255">Coronary artery disease</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=256">Coronary heart disease, susceptibility to, 5</a> </td> <td class="info" > Coronary heart disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=257">Coronary heart disease, susceptibility to, 6</a> </td> <td class="info" > Coronary heart disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1065">Coronary restenosis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1006">Cortical dysplasia, complex, with other brain malformations 1; CDCBM1</a> </td> <td class="info" > Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1004">Cortical dysplasia, complex, with other brain malformations 6; CDCBM6</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=258">Cortisone reductase deficiency 2</a> </td> <td class="info" > Hyperandrogenism due to cortisone reductase deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=991">Costello syndrome; CSTLO</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=259">Cowden syndrome 5; CWS5</a> </td> <td class="info" > Cowden disease <b>|</b> Cowden syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=260">Cowden syndrome 6; CWS6</a> </td> <td class="info" > Cowden disease <b>|</b> Cowden syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=975">Craniopharyngioma</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=261">Craniorachischisis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=262">Craniosynostosis and dental anomalies</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1056">Crimean-Congo hemorrhagic fever</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1016">Crohn's disease</a> </td> <td class="info" > Crohn disease <b>|</b> Inflammatory bowel disease 1; IBD1 </td> <td class="info" > 4 </td> <td class="info" > 27 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=263">Crouzon syndrome</a> </td> <td class="info" > Crouzon disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=264">Crouzon syndrome with acanthosis nigricans</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=265">Cryptorchidism</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=267">Cutaneous mastocytoma</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1229">Cutaneous T cell lymphoma</a> </td> <td class="info" > CTCL <b>|</b> cutaneous T-cell lymphoma </td> <td class="info" > 0 </td> <td class="info" > 2 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=268">Cutaneous telangiectasia and cancer syndrome, familial</a> </td> <td class="info" > Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=269">Cyclic neutropenia</a> </td> <td class="info" > Cyclic hematopoiesis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=270">Cystic fibrosis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td colspan="3"> </td> </tr> <tr> <td class="info" style="border-right:none;" colspan="2"><a style="font-size:110%;font-weight:bold;color:black;" name="D">D</a></td> <td class="info" style="text-align:right; border-left:none;" colspan="2"><a style="font-weight:normal;font-size:95%;" href="#top">Back to top</a></td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=271">Deafness, autosomal dominant 2A; DFNA2A</a> </td> <td class="info" > Autosomal dominant nonsyndromic deafness <b>|</b> Autosomal dominant non-syndromic sensorineural deafness type DFNA </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=272">Deafness, autosomal dominant 41; DFNA41</a> </td> <td class="info" > Autosomal dominant nonsyndromic deafness <b>|</b> Autosomal dominant non-syndromic sensorineural deafness type DFNA </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=273">Deafness, autosomal recessive 30; DFNB30</a> </td> <td class="info" > Autosomal recessive nonsyndromic deafness <b>|</b> Autosomal recessive non-syndromic sensorineural deafness type DFNB </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=119">Deafness, autosomal recessive 35; DFNB35</a> </td> <td class="info" > Autosomal recessive nonsyndromic deafness <b>|</b> Autosomal recessive non-syndromic sensorineural deafness type DFNB </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=274">Deafness-infertility syndrome</a> </td> <td class="info" > Deafness, sensineural, and male infertility </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=275">Dedifferentiated liposarcoma</a> </td> <td class="info" > Liposarcoma </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1242">Deficiency of IL-36R antagonist</a> </td> <td class="info" > DITRA </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1243">Deficiency of IL-1 receptor antagonist</a> </td> <td class="info" > DIRA <b>|</b> Interleukin-1 receptor antagonist deficiency <b>|</b> OMPP <b>|</b> sterile multifocal osteomyelitis with periostitis and pustulosis </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1181">Dehydrated hereditary stomatocytosis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=996">Dental ankylosis</a> </td> <td class="info" > Tooth ankylosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1018">Dermatitis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 14 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1147">Diabetes mellitus, insulin-dependent, 12; IDDM12</a> </td> <td class="info" > Insulin-dependent diabetes mellitus 12 <b>|</b> type 1 diabetes mellitus </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=278">Diabetes mellitus, insulin-dependent, 22; IDDM22</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1032">Diabetes mellitus, insulin-dependent; IDDM</a> </td> <td class="info" > Type 1 diabetes mellitus </td> <td class="info" > 3 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=279">Diabetes mellitus, insulin-resistant, with acanthosis nigricans, type A</a> </td> <td class="info" > Insulin-resistance syndrome type A </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=280">Diabetes mellitus, noninsulin-dependent; NIDDM</a> </td> <td class="info" > Diabetes mellitus, Type II; T2D <b>|</b> Maturity onset diabetes <b>|</b> Type 2 diabetes mellitus </td> <td class="info" > 15 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=281">Diabetes mellitus, permanent neonatal; PNDM</a> </td> <td class="info" > DEND syndrome <b>|</b> Developmental delay-epilepsy-neonatal diabetes syndrome <b>|</b> Permanent neonatal diabetes mellitus </td> <td class="info" > 3 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=282">Diabetes mellitus, transient neonatal, 2</a> </td> <td class="info" > Transient neonatal diabetes mellitus </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=283">Diabetes mellitus, transient neonatal, 3</a> </td> <td class="info" > Transient neonatal diabetes mellitus </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=997">Diamond-Blackfan anemia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=284">Diarrhea 6; DIAR6</a> </td> <td class="info" > Chronic diarrhea due to guanylate cyclase 2C overactivity </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1090">Diarrhea 7; DIAR7</a> </td> <td class="info" > Congenital chronic diarrhea with protein-losing enteropathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=453">Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency</a> </td> <td class="info" > Hyperinsulinemic hypoglycemia, familial, 1; HHF1 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=285">Diffuse cutaneous systemic sclerosis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1254">Diffuse large B-cell lymphoma</a> </td> <td class="info" > DLBCL <b>|</b> DLBL </td> <td class="info" > 1 </td> <td class="info" > 2 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=286">DiGeorge syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=349">Digital arthropathy-brachydactyly; familial; FDAB</a> </td> <td class="info" > Familial digital arthropathy-brachydactyly </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=542">Donohue syndrome</a> </td> <td class="info" > Leprechaunism </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=290">Dravet syndrome</a> </td> <td class="info" > Epileptic encephalopathy, early infantile, 6; EIEE6 <b>|</b> Severe myoclonic epilepsy of infancy; SMEI </td> <td class="info" > 4 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1210">Duchenne muscular dystrophy</a> </td> <td class="info" > </td> <td class="info" > 0 </td> <td class="info" > 2 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=967">Dystonia 9; DYT9</a> </td> <td class="info" > Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=291">Dystonia 3, torsion, X-linked; DYT3</a> </td> <td class="info" > X-linked dystonia-parkinsonism </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td colspan="3"> </td> </tr> <tr> <td class="info" style="border-right:none;" colspan="2"><a style="font-size:110%;font-weight:bold;color:black;" name="E">E</a></td> <td class="info" style="text-align:right; border-left:none;" colspan="2"><a style="font-weight:normal;font-size:95%;" href="#top">Back to top</a></td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1280">Early Infantile Epileptic Encephalopathy 42 (EIEE42)</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1282">Early infantile epileptic encephalopathy-69; EIEE69</a> </td> <td class="info" > EIEE69; Developmental and Epileptic Encephalopathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1166">Early Onset Cerebellar Ataxia, Intellectual Disability and Epilepsy</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=293">Early repolarization syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1270">Ectodermal dysplasia-syndactyly syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=294">Eiken syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=295">Emesis</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=716">Enchondromatosis, multiple, Ollier type</a> </td> <td class="info" > Dyschondroplasia <b>|</b> Enchondromatosis <b>|</b> Ollier disease <b>|</b> Osteochondromatosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=297">Endocrine-cerebroosteodysplasia</a> </td> <td class="info" > Endocrine-cerebro-osteodysplasia syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=296">Endocrine tumors</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=298">Endometrial cancer</a> </td> <td class="info" > </td> <td class="info" > 5 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=299">Endometriosis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1069">Endotoxin hyporesponsiveness</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=300">Enhanced S-cone syndrome; ESCS</a> </td> <td class="info" > Goldmann-Favre syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1195">Eosinophilic esophagitis</a> </td> <td class="info" > </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=301">Epidermolysis bullosa dystrophica, autosomal recessive</a> </td> <td class="info" > Epidermolysis bullosa dystrophica <b>|</b> Severe generalized recessive dystrophic epidermolysis bullosa </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=302">Epilepsy</a> </td> <td class="info" > </td> <td class="info" > 5 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1167">Epilepsy and Autism</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1285">Epilepsy and Intellectual Disability</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=305">Epilepsy, childhood absence, susceptibility to, 2; ECA2</a> </td> <td class="info" > Childhood absence epilepsy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=306">Epilepsy, childhood absence, susceptibility to, 5; ECA5</a> </td> <td class="info" > Childhood absence epilepsy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=307">Epilepsy, childhood absence, susceptibility to, 6; ECA6</a> </td> <td class="info" > Childhood absence epilepsy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=308">Epilepsy, focal, with speech disorder and with or without mental retardation; FESD</a> </td> <td class="info" > Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=312">Epilepsy, idiopathic generalized, susceptibility to, 6; ECA6</a> </td> <td class="info" > Idiopathic generalized epilepsy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=310">Epilepsy, idiopathic generalized, susceptibility to, 10; EIG10</a> </td> <td class="info" > Generalized epilepsy with febrile seizures-plus <b>|</b> Idiopathic generalized epilepsy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=311">Epilepsy, idiopathic generalized, susceptibility to, 11; EIG11</a> </td> <td class="info" > Idiopathic generalized epilepsy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=968">Epilepsy, idiopathic generalized, susceptibility to, 12; EIG12</a> </td> <td class="info" > Idiopathic generalized epilepsy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=210">Epilepsy, idiopathic generalized, susceptibility to, 13; EIG13</a> </td> <td class="info" > Childhood absence epilepsy <b>|</b> Idiopathic generalized epilepsy <b>|</b> Juvenile myoclonic epilepsy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=303">Epilepsy, idiopathic generalized, susceptibility to, 8; EIG8</a> </td> <td class="info" > Idiopathic generalized epilepsy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=313">Epilepsy, juvenile myoclonic, susceptibility to, 7; EJM7</a> </td> <td class="info" > Juvenile myoclonic epilepsy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=314">Epilepsy, juvenile myoclonic, susceptibility to, 8; EJM8</a> </td> <td class="info" > Juvenile myoclonic epilepsy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=316">Epilepsy, nocturnal frontal lobe, 1; ENFL1</a> </td> <td class="info" > Autosomal dominant nocturnal frontal lobe epilepsy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=317">Epilepsy, nocturnal frontal lobe, 3; ENFL3</a> </td> <td class="info" > Autosomal dominant nocturnal frontal lobe epilepsy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=315">Epilepsy, nocturnal frontal lobe 4, ENFL4</a> </td> <td class="info" > Autosomal dominant nocturnal frontal lobe epilepsy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=318">Epilepsy, nocturnal frontal lobe, 5; ENFL5</a> </td> <td class="info" > Autosomal dominant nocturnal frontal lobe epilepsy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1162">Epilepsy, progressive myoclonic 7; EPM7</a> </td> <td class="info" > Progressive myoclonus epilepsy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=319">Epileptic encephalopathy</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=321">Epileptic encephalopathy, early infantile, 11; EIEE11</a> </td> <td class="info" > Early infantile epileptic encephalopathy <b>|</b> Infantile epileptic encephalopathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=322">Epileptic encephalopathy, early infantile, 13; EIEE13</a> </td> <td class="info" > Early infantile epileptic encephalopathy <b>|</b> Infantile epileptic encephalopathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=323">Epileptic encephalopathy, early infantile, 14; EIEE14</a> </td> <td class="info" > Infantile epileptic encephalopathy <b>|</b> Malignant migrating partial seizures of infancy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=325">Epileptic encephalopathy, early infantile, 24; EIEE24</a> </td> <td class="info" > Early infantile epileptic encephalopathy <b>|</b> Infantile epileptic encephalopathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=324">Epileptic encephalopathy, early infantile, 2; EIEE2</a> </td> <td class="info" > Early infantile epileptic encephalopathy <b>|</b> Infantile epileptic encephalopathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=326">Epileptic encephalopathy, early infantile, 7; EIEE7</a> </td> <td class="info" > Early infantile epileptic encephalopathy <b>|</b> Infantile epileptic encephalopathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=320">Epileptic encephalopathy with continuous spike-and-wave during sleep</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=327">Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus</a> </td> <td class="info" > Wolcott-Rallison syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=328">Episodic ataxia, type 1; EA1</a> </td> <td class="info" > Episodic ataxia <b>|</b> Hereditary continuous muscle fiber activity </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=329">Episodic ataxia, type 2; EA2</a> </td> <td class="info" > Episodic ataxia <b>|</b> Familial paroxysmal ataxia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=330">Episodic pain syndrome, familial, 1; FEPS1</a> </td> <td class="info" > Familial episodic pain syndrome <b>|</b> Familial episodic pain syndrome with predominantly upper body involvement </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=331">Episodic pain syndrome, familial, 2; FEPS2</a> </td> <td class="info" > Sodium channelopathy-related small fiber neuropathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=332">Episodic pain syndrome, familial, 3; FEPS3</a> </td> <td class="info" > Familial episodic pain syndrome <b>|</b> Familial episodic pain syndrome with predominantly lower limb involvement </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=333">Erythermalgia</a> </td> <td class="info" > Primary erythermalgia <b>|</b> Sodium channelopathy-related small fiber neuropathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=334">Erythrocytosis, familial, 1; ECYT1</a> </td> <td class="info" > Primary familial polycythemia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1082">Erythrocytosis, familial, 3; ECYT3</a> </td> <td class="info" > Autosomal dominant secondary polycythemia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=336">Esophageal cancer</a> </td> <td class="info" > </td> <td class="info" > 4 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=338">Estrogen resistance; ESTRR</a> </td> <td class="info" > Estrogen resistance syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=340">Extraskeletal myxoid chondrosarcoma</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=350">Exudative vitreoretinopathy 1; EVR1</a> </td> <td class="info" > Exudative vitreoretinopathy <b>|</b> Familial exudative vitreoretinopathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td colspan="3"> </td> </tr> <tr> <td class="info" style="border-right:none;" colspan="2"><a style="font-size:110%;font-weight:bold;color:black;" name="F">F</a></td> <td class="info" style="text-align:right; border-left:none;" colspan="2"><a style="font-weight:normal;font-size:95%;" href="#top">Back to top</a></td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=341">Factor V deficiency</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=342">Factor VII deficiency</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=343">Factor VIII deficiency</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=344">Factor X deficiency</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=345">Factor XI deficiency</a> </td> <td class="info" > hemophilia C <b>|</b> plasma thromboplastin antecedent (PTA) deficiency <b>|</b> Rosenthal syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=346">Factor XII deficiency</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=781">Failure of tooth eruption, primary; PFE</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1129">Familial amyloid cardiomyopathy</a> </td> <td class="info" > Transthyretin amyloid cardiopathy <b>|</b> Transthyretin amyloidosis <b>|</b> Transthyretin-related familial amyloid cardiomyopathy <b>|</b> TTR-related cardiac amyloidosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=347">Familial cerebral saccular aneurysm</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1025">Familial cold autoinflammatory syndrome 1; FCAS1</a> </td> <td class="info" > Familial cold urticaria </td> <td class="info" > 1 </td> <td class="info" > 2 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1017">Familial cold autoinflammatory syndrome 2; FCAS2</a> </td> <td class="info" > NLRP12-associated hereditary periodic fever syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1051">Familial cold autoinflammatory syndrome 4; FCAS4</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=348">Familial combined hyperlipidemia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=351">Familial gestational hyperthyroidism</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=353">Familial hyperaldosteronism type I</a> </td> <td class="info" > Glucocorticoid-remediable aldosteronism; GRA </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=354">Familial hyperaldosteronism type III</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1284">Familial Hyperaldosteronism Type IV</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=355">Familial hypocalciuric hypercalcemia type 1</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1012">Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=356">Familial isolated arrhythmogenic ventricular dysplasia, biventricular form</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=357">Familial isolated arrhythmogenic ventricular dysplasia, left dominant form</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=358">Familial isolated arrhythmogenic ventricular dysplasia, right dominant form</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=361">Familial isolated hypoparathyroidism due to impaired PTH secretion</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=980">Familial pancreatic carcinoma</a> </td> <td class="info" > Pancreatic cancer <b>|</b> Pancreatic carcinoma </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=362">Familial partial lipodystrophy associated with PPARG mutations</a> </td> <td class="info" > Familial partial lipodystrophy <b>|</b> Lipodystrophy, familial partial, type 3; FPLD3 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=363">Familial partial lipodystrophy due to AKT2 mutations</a> </td> <td class="info" > Familial partial lipodystrophy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=364">Familial prostate cancer</a> </td> <td class="info" > Prostate cancer </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=367">Familial thrombocytosis</a> </td> <td class="info" > essential thrombocythaemia <b>|</b> hemorrhagic thrombocythemia <b>|</b> hereditary thrombocythemia <b>|</b> primary thrombocytosis </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1023">Fatty liver disease, nonalcoholic, susceptibility to, 1; NAFLD1</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=369">Febrile and afebrile seizures</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=370">Febrile Convulsions, Familial 8, FEB8</a> </td> <td class="info" > Generalized epilepsy with febrile seizures-plus </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=372">Febrile seizures, familial, 1; FEB1</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=373">Febrile seizures, familial, 4; FEB4</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=374">Fertile eunuch syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=375">FG syndrome 4</a> </td> <td class="info" > FG syndrome <b>|</b> Keller syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=376">Fibrodysplasia ossificans progressiva</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=377">Fibrosarcoma</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1080">Fibrosis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1005">Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement; CFEOM3A</a> </td> <td class="info" > Congenital fibrosis of extraocular muscles </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1272">focal dermal hypoplasia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=378">Focal segmental glomerulosclerosis 2; FSGS2</a> </td> <td class="info" > Focal segmental glomerulosclerosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1228">Follicular lymphoma</a> </td> <td class="info" > </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=379">Frontotemporal dementia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=380">Functional dyspepsia</a> </td> <td class="info" > Dyspepsia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td colspan="3"> </td> </tr> <tr> <td class="info" style="border-right:none;" colspan="2"><a style="font-size:110%;font-weight:bold;color:black;" name="G">G</a></td> <td class="info" style="text-align:right; border-left:none;" colspan="2"><a style="font-weight:normal;font-size:95%;" href="#top">Back to top</a></td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=381">GABA-transaminase deficiency</a> </td> <td class="info" > GABA aminotransferase deficiency <b>|</b> Gamma-aminobutyric acid transaminase deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=382">Galactosialidosis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=383">Gastric cancer</a> </td> <td class="info" > Stomach cancer </td> <td class="info" > 8 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=384">Gastric cancer, hereditary diffuse; HDGC</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1071">Gastritis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=622">Gastrointestinal neuroendocrine tumor</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=385">Gastrointestinal stromal tumor</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=386">Generalized epilepsy and paroxysmal dyskinesia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=387">Generalized epilepsy with febrile seizures-plus</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=388">Generalized epilepsy with febrile seizures plus, type 1; GEFSP1</a> </td> <td class="info" > Generalized epilepsy with febrile seizures-plus </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=389">Generalized epilepsy with febrile seizures plus, type 2; GEFSP2</a> </td> <td class="info" > Generalized epilepsy with febrile seizures-plus </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=390">Generalized epilepsy with febrile seizures plus; type 3; GEFSP3</a> </td> <td class="info" > Generalized epilepsy with febrile seizures-plus </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=309">Generalized epilepsy with febrile seizures plus, type 7; GEFSP7</a> </td> <td class="info" > Generalized epilepsy with febrile seizures-plus </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=391">Generalized juvenile polyposis/juvenile polyposis coli</a> </td> <td class="info" > Juvenile polypolis syndrome; JPS </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=816">Generalized resistance to thyroid hormone</a> </td> <td class="info" > Thyroid hormone resistance, generalized, autosomal dominant; GRTH <b>|</b> Thyroid hormone resistance, generalized, autosomal recessive; GRTH <b>|</b> Thyroid hormone resistance syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=572">Giant cell glioblastoma</a> </td> <td class="info" > Glioma susceptibility 1; GLM1 </td> <td class="info" > 4 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=393">Gitelman syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=394">Glioblastoma</a> </td> <td class="info" > Glioblastoma multiforme <b>|</b> Glioma susceptibility 1; GLM1 </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=395">Gliosarcoma</a> </td> <td class="info" > </td> <td class="info" > 4 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=352">Glucocorticoid deficiency 1; GCCD1</a> </td> <td class="info" > Familial glucocorticoid deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=396">Glucocorticoid resistance, generalized; GCCR</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=397">Glucocorticoid sensitivity</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1124">Glucose/galactose malabsorption; GGM</a> </td> <td class="info" > Glucose-galactose malabsorption </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=970">GLUT1 deficiency syndrome 1; GLUT1DS1</a> </td> <td class="info" > Encephalopathy due to GLUT1 deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=971">GLUT1 deficiency syndrome 2; GLUT1DS2</a> </td> <td class="info" > Paroxysmal exertion-induced dyskinesia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=401">Glycogen storage disease due to muscle phosphorylase kinase deficiency</a> </td> <td class="info" > Glycogen storage disease IX </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=398">Glycogen storage disease II; GSD2</a> </td> <td class="info" > Glycogen storage disease due to acid maltase deficiency <b>|</b> Glycogen storage disease due to acid maltase deficiency, adult onset <b>|</b> Glycogen storage disease due to acid maltase deficiency, infantile onset <b>|</b> Glycogen storage disease due to acid maltase deficiency, juvenile onset <b>|</b> Pompe disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=402">Glycogen storage disease IXc</a> </td> <td class="info" > Glycogen storage disease due to liver phosphorylase kinase deficiency <b>|</b> Glycogen storage disease IX </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=403">Glycogen storage disease of heart, lethal congenital</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1027">Gout</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 3 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1220">Graft versus host disease</a> </td> <td class="info" > graft-versus-host disease <b>|</b> GvHD </td> <td class="info" > 1 </td> <td class="info" > 7 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1072">Gram negative infection</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=405">Graves' disease</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 2 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1186">Griscelli syndrome, type 2</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=858">Growth hormone deficiency, isolated partial; GHDP</a> </td> <td class="info" > Short stature due to GHSR deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=857">Growth hormone insensitivity, partial; GHIP</a> </td> <td class="info" > Short stature due to partial GHR deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td colspan="3"> </td> </tr> <tr> <td class="info" style="border-right:none;" colspan="2"><a style="font-size:110%;font-weight:bold;color:black;" name="H">H</a></td> <td class="info" style="text-align:right; border-left:none;" colspan="2"><a style="font-weight:normal;font-size:95%;" href="#top">Back to top</a></td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=406">Haim-Munk syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=407">Hairy cell leukemia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1154">Hajdu-Cheney syndrome; HJCYS</a> </td> <td class="info" > Acroosteolysis dominant type </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=408">Hartsfield syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=409">Hashimoto-Pritzker syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1148">Hashimoto thyroiditis</a> </td> <td class="info" > Autoimmune thyroiditis <b>|</b> Hashimoto struma </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=410">Hawkinsinuria</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=411">Heart failure</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=412">Hemangioma, capillary infantile</a> </td> <td class="info" > Familial capillary hemangioma </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1173">Hematological malignancies</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=413">Hemimegalencephaly</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=414">Hemolytic anemia due to glutathione reductase deficiency</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=415">Hemolytic uremic syndrome, atypical, susceptibility to, 4</a> </td> <td class="info" > Atypical hemolytic-uremic syndrome with B factor anomaly <b>|</b> Hemolytic-uremic syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=416">Hemophagocytic lymphohistiocytosis</a> </td> <td class="info" > Hemophagocytic syndrome </td> <td class="info" > 1 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1079">Hepatitis C infection</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=422">Hepatocellular carcinoma</a> </td> <td class="info" > </td> <td class="info" > 4 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1218">Hereditary angioedema</a> </td> <td class="info" > HAE </td> <td class="info" > 0 </td> <td class="info" > 2 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=424">Hereditary breast and ovarian cancer syndrome</a> </td> <td class="info" > Hereditary breast ovarian cancer </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1170">Hereditary hemorrhagic telangiectasia type 1 (HHT1)</a> </td> <td class="info" > hemorrhagic telangiectasia type 1 <b>|</b> Osler hemorrhagic telangiectasia syndrome <b>|</b> Osler-Rendu-Weber disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=428">Hereditary motor and sensory neuropathy, type IIC, HMSN2C</a> </td> <td class="info" > Autosomal dominant Charcot-Marie-Tooth disease type 2C <b>|</b> Charcot-Marie-Tooth disease type 2 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=429">Hereditary myopathy with early respiratory failure</a> </td> <td class="info" > Hereditary proximal myopathy with early respiratory failure </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=430">Hereditary nonpolyposis colon cancer</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=431">Hereditary pancreatitis</a> </td> <td class="info" > Hereditary chronic pancreatitis </td> <td class="info" > 4 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=432">Hereditary sensory and autonomic neuropathy type 2</a> </td> <td class="info" > Hereditary sensory and autonomic neuropathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=433">Hereditary sensory and autonomic neuropathy type 5</a> </td> <td class="info" > Hereditary sensory and autonomic neuropathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=434">Heritable pulmonary arterial hypertension</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1066">Herpes simplex encephalitis, susceptibility to, 2</a> </td> <td class="info" > Herpes simplex virus encephalitis <b>|</b> Herpetic encephalitis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=435">Herpetic encephalitis</a> </td> <td class="info" > Herpes simplex encephalitis <b>|</b> Herpes simplex virus encephalitis <b>|</b> HSV encephalitis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=436">Heterotaxy, visceral, 4, autosomal; HTX4</a> </td> <td class="info" > Situs ambiguus <b>|</b> Visceral heterotaxy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=437">Hirschsprung disease</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=438">Hirschsprung disease, cardiac defects, and autonomic dysfunction</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=439">Hirschsprung disease, susceptibility to, 1; HSCR1</a> </td> <td class="info" > Hirschsprung disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=440">Hirschsprung disease, susceptibility to, 2; HSCR2</a> </td> <td class="info" > Hirschsprung disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1002">Honey-droplet corneal dystrophy</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=441">Human immunodeficiency virus type 1, susceptibility to</a> </td> <td class="info" > Human immunodeficiency virus infectious disease </td> <td class="info" > 8 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=442">Huntington disease</a> </td> <td class="info" > Huntington's disease </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=443">Hydrocephalus</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=444">Hydromyelia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=7">3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=445">Hyperalgesia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1267">Hyperammonemia due to carbonic anhydrase VA deficiency</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1092">Hyperchlorhidrosis, isolated</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1104">Hypercholesterolemia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=447">Hypercholesterolemia; autosomal dominant, 3</a> </td> <td class="info" > Familial hypercholesterolemia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=446">Hypercholesterolemia, familial</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=427">Hyperekplexia, hereditary 1; HKPX1</a> </td> <td class="info" > Hereditary hyperekplexia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=448">Hyperekplexia 2; HKPX2</a> </td> <td class="info" > Hereditary hyperekplexia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=449">Hypereosinophilic syndrome, idiopathic; HES</a> </td> <td class="info" > Hypereosinophilic syndrome of undetermined significance </td> <td class="info" > 1 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1100">Hyperfibrinolysis, familial, due to increased release of tissue plasminogen activator</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=450">Hyper-IgD syndrome</a> </td> <td class="info" > Hyperimmunoglobulinemia D with periodic fever </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=454">Hyperinsulinemic hypoglycemia, familial, 2; HHF2</a> </td> <td class="info" > Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency <b>|</b> Hyperinsulinemic hypoglycemia <b>|</b> Persistent hyperinsulinemic hypoglycemia of infancy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1084">Hyperinsulinemic hypoglycemia, familial, 3; HHF3</a> </td> <td class="info" > Hyperinsulinemic hypoglycemia <b>|</b> Hyperinsulinism due to glucokinase deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=455">Hyperinsulinemic hypoglycemia, familial, 5; HHF5</a> </td> <td class="info" > Hyperinsulinemic hypoglycemia <b>|</b> Hyperinsulinism due to INSR deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=456">Hyperinsulinism due to HNF4A deficiency</a> </td> <td class="info" > Hyperinsulinism </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=457">Hyperkalemic Periodic Paralysis; HYPP</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=458">Hypertension, essential</a> </td> <td class="info" > </td> <td class="info" > 3 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=459">Hyperuricemic nephropathy, familial juvenile 2; HNFJ2</a> </td> <td class="info" > Familial juvenile hyperuricemic nephropathy <b>|</b> Hyperuricemia - anemia - renal failure </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=460">Hypocalcemia, autosomal dominant, with Bartter syndrome</a> </td> <td class="info" > Autosomal dominant hypocalcemia <b>|</b> Bartter syndrome with hypocalcemia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=461">Hypochondroplasia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=462">Hypoglycemia, Leucine-Induced; LIH</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=464">Hypogonadotropic hypogonadism 11 with or without anosmia; HH11</a> </td> <td class="info" > Kallmann syndrome <b>|</b> Normosmic congenital hypogonadotropic hypogonadism </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=465">Hypogonadotropic hypogonadism 2 with or without anosmia; HH2</a> </td> <td class="info" > Kallmann syndrome <b>|</b> Normosmic congenital hypogonadotropic hypogonadism </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=466">Hypogonadotropic hypogonadism 3 with or without anosmia; HH3</a> </td> <td class="info" > Kallmann syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=467">Hypogonadotropic hypogonadism 7 with or without anosmia; HH7</a> </td> <td class="info" > Idiopathic hypogonadotropic hypogonadism <b>|</b> Isolated hypogonadotropic hypogonadism </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=468">Hypogonadotropic hypogonadism 8 with or without anosmia; HH8</a> </td> <td class="info" > Kallmann syndrome <b>|</b> Normosmic congenital hypogonadotropic hypogonadism </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=469">Hypoinsulinemic hypoglycemia with hemihypertrophy</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=470">Hypokalemic periodic paralysis, type 1; HOKPP1</a> </td> <td class="info" > Hypokalemic periodic paralysis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=471">Hypokalemic periodic paralysis, type 2; HOKPP2</a> </td> <td class="info" > Hypokalemic periodic paralysis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=472">Hypomagnesemia 2, renal; HOMG2</a> </td> <td class="info" > Autosomal dominant primary hypomagnesemia with hypocalciuria </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=473">Hyponatremia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=474">Hypopituitarism with pituitary stalk interruption</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=475">Hypoplasminogenemia</a> </td> <td class="info" > Plasminogen deficiency type 1 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=476">Hypospadias 1, X-linked; HYSP1</a> </td> <td class="info" > Familial hypospadia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=477">Hypothalamic amenorrhea</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=253">Hypothyroidism, congenital, nongoitrous, 1; CHNG1</a> </td> <td class="info" > Congenital hypothyroidism <b>|</b> Hypothyroidism due to TSH receptor mutations </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=744">Hypothyroidism, congenital, nongoitrous, 3; CHNG3</a> </td> <td class="info" > Congenital hypothyroidism <b>|</b> Peripheral resistance to thyroid hormones </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=478">Hypothyroidism, congenital, nongoitrous, 6; CHNG6</a> </td> <td class="info" > Congenital hypothyroidism <b>|</b> Peripheral resistance to thyroid hormones </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=479">Hypotrichosis 8; HYPT8</a> </td> <td class="info" > Hypotrichosis <b>|</b> Hypotrichosis simplex <b>|</b> Woolly hair </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td colspan="3"> </td> </tr> <tr> <td class="info" style="border-right:none;" colspan="2"><a style="font-size:110%;font-weight:bold;color:black;" name="I">I</a></td> <td class="info" style="text-align:right; border-left:none;" colspan="2"><a style="font-weight:normal;font-size:95%;" href="#top">Back to top</a></td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=482">Ichthyosis, congenital, autosomal recessive 4A; ARCI4A</a> </td> <td class="info" > Lamellar ichthyosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=480">Ichthyosis, congenital, autosomal recessive 11; ARCI11</a> </td> <td class="info" > Ichthyosis-hypotrichosis syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=481">Ichthyosis, congenital, autosomal recessive 4B; ARCI4B</a> </td> <td class="info" > Harlequin ichthyosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=484">Idiopathic hypogonadotropic hypogonadism</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=486">Idiopathic pulmonary fibrosis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 6 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=487">Idiopathic ventricular fibrillation</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=95">IgE responsiveness, atopic; IGER</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1257">Immunodeficiency 9</a> </td> <td class="info" > Immune dysfunction with T-cell inactivation due to calcium entry defect 1 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1009">Immunodeficiency, common variable, 3; CVID3</a> </td> <td class="info" > Common variable immunodeficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1264">Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH)</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1117">Immunodeficiency 15; IMD15</a> </td> <td class="info" > Severe combined immunodeficiency due to IKK2 deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1143">Immunodeficiency 18; IMD18</a> </td> <td class="info" > CD3epsilon deficiency <b>|</b> Immunodeficiency 18, SCID variant <b>|</b> Immunodeficiency 18, Severe combined immunodeficiency variant <b>|</b> Severe combined immunodeficiency <b>|</b> T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=937">Immunodeficiency 35; IMD35</a> </td> <td class="info" > Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency <b>|</b> Tyrosine kinase 2 deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1122">Immunodeficiency 26 with or without neurologic abnormalities; IMD26</a> </td> <td class="info" > Severe combined immunodeficiency due to DNA-PKcs deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=490">Immunoglobulin A vasculitis</a> </td> <td class="info" > Henoch-Schönlein Purpura </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=66">Increased analgesia from kappa-opioid receptor agonist, female-specific</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=491">Indifference to pain, congenital, autosomal recessive; CIP</a> </td> <td class="info" > Channelopathy-associated congenital insensitivity to pain </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=492">Infantile nephronophthisis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=494">Inflammation</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1028">Inflammatory bowel disease</a> </td> <td class="info" > Inflammatory bowel disease </td> <td class="info" > 1 </td> <td class="info" > 7 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=495">Inflammatory myofibroblastic tumor</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=497">Inflammatory skin and bowel disease, neonatal, 1; NISBD1</a> </td> <td class="info" > Neonatal inflammatory skin and bowel disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=984">Inflammatory skin and bowel disease, neonatal, 2; NISBD2</a> </td> <td class="info" > Neonatal inflammatory skin and bowel disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=498">Inherited isolated adrenal insufficiency due to CYP11A1 deficiency</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=499">Injury aggravation in neurotrauma</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=500">Insensitivity to pain, congenital, with anhidrosis; CIPA</a> </td> <td class="info" > Hereditary sensory and autonomic neuropathy <b>|</b> Hereditary sensory and autonomic neuropathy type 4 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=501">Insomnia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=503">Insulin-like growth factor I, resistance to</a> </td> <td class="info" > Growth delay due to insulin-like growth factor I resistance </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=504">Insulinoma</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=505">Intermittent hypoxia-induced atherogenesis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=506">Interstitial cystitis</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=507">Intervertebral disc disease; IDD</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=508">Intrahepatic cholestasis of pregnancy</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=509">Invasive pneumococcal disease, recurrent isolated, 1; IPD1</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=510">IRAK4 deficiency</a> </td> <td class="info" > Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=511">Iron-refractory iron deficiency anemia; IRIDA</a> </td> <td class="info" > IRIDA syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=512">Irritable bowel syndrome</a> </td> <td class="info" > </td> <td class="info" > 4 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=514">Ischemia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=513">Ischemia-reperfusion injury</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=966">Isolated autosomal dominant hypomagnesemia, Glaudemans type</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=515">Isolated bone marrow mastocytosis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=516">Isolated brachycephaly</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=517">Isolated cloverleaf skull syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=518">Isolated growth hormone deficiency type IB</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=519">Isolated growth hormone deficiency, Type III</a> </td> <td class="info" > Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=520">Isolated plagiocephaly</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td colspan="3"> </td> </tr> <tr> <td class="info" style="border-right:none;" colspan="2"><a style="font-size:110%;font-weight:bold;color:black;" name="J">J</a></td> <td class="info" style="text-align:right; border-left:none;" colspan="2"><a style="font-weight:normal;font-size:95%;" href="#top">Back to top</a></td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=521">Jackson-Weiss syndrome</a> </td> <td class="info" > Craniosynostosis - midfacial hypoplasia - foot abnormalities </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=523">Jervell and Lange-Nielsen syndrome 1; JLNS1</a> </td> <td class="info" > Jervell and Lange-Nielsen syndrome <b>|</b> Jervell-Lange Nielsen syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=110">JMP syndrome</a> </td> <td class="info" > Autoinflammation, lipodystrophy, and dermatosis syndrome <b>|</b> Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1222">Juvenile idiopathic arthritis</a> </td> <td class="info" > JIA <b>|</b> juvenile Still's disease </td> <td class="info" > 0 </td> <td class="info" > 3 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1175">Juvenile idiopathic arthritis- polyarticular</a> </td> <td class="info" > </td> <td class="info" > 0 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1176">Juvenile idiopathic arthritis- systemic</a> </td> <td class="info" > systemic juvenile rheumatoid arthritis </td> <td class="info" > 0 </td> <td class="info" > 4 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=990">Juvenile myelomonocytic leukemia; JMML</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=524">Juvenile myoclonic epilepsy</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=527">Juvenile rheumatoid factor-negative polyarthritis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td colspan="3"> </td> </tr> <tr> <td class="info" style="border-right:none;" colspan="2"><a style="font-size:110%;font-weight:bold;color:black;" name="K">K</a></td> <td class="info" style="text-align:right; border-left:none;" colspan="2"><a style="font-weight:normal;font-size:95%;" href="#top">Back to top</a></td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1236">Kawasaki disease</a> </td> <td class="info" > infantile polyarteritis <b>|</b> mucocutaneous lymph node syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1203">keratoconjunctivitis sicca</a> </td> <td class="info" > dry eye disease <b>|</b> KCS <b>|</b> keratitis sicca </td> <td class="info" > 0 </td> <td class="info" > 2 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=528">Keratosis, seborrheic</a> </td> <td class="info" > Seborrheic keratosis </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=529">King-Denborough syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=530">Kleefstra syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=531">Klinefelter syndrome</a> </td> <td class="info" > Klinefelter's syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td colspan="3"> </td> </tr> <tr> <td class="info" style="border-right:none;" colspan="2"><a style="font-size:110%;font-weight:bold;color:black;" name="L">L</a></td> <td class="info" style="text-align:right; border-left:none;" colspan="2"><a style="font-weight:normal;font-size:95%;" href="#top">Back to top</a></td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=532">Lacrimoauriculodentodigital syndrome</a> </td> <td class="info" > LADD syndrome </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=533">Landau-Kleffner syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=534">Large congenital melanocytic nevus</a> </td> <td class="info" > Congenital melanocytic nevus </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=535">Laron syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1155">Lateral meningocele syndrome; LMNS</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=537">Leber congenital amaurosis 11; LCA11</a> </td> <td class="info" > Amaurosis congenita of Leber <b>|</b> Leber congenital amaurosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=538">Leber congenital amaurosis 16; LCA16</a> </td> <td class="info" > Amaurosis congenita of Leber <b>|</b> Leber congenital amaurosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=536">Leber congenital amaurosis 1; LCA1</a> </td> <td class="info" > Amaurosis congenita of Leber <b>|</b> Leber congenital amaurosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1073">Legionnaire disease, susceptibility to</a> </td> <td class="info" > Legionnaires' disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=539">Lennox-Gastaut syndrome</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=540">LEOPARD syndrome 2; LPRD2</a> </td> <td class="info" > LEOPARD syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=541">LEOPARD syndrome 3; LPRD3</a> </td> <td class="info" > LEOPARD syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1060">Leprosy, susceptibility to, 3; LPRS3</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1014">Leprosy, susceptibility to, 5; LPRS5</a> </td> <td class="info" > Leprosy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=543">Lethal congenital contractural syndrome 2; LCCS2</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=544">Lethal congenital contractural syndrome 3; LCCS3</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1182">leukocyte adhesion deficiency type 1</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=548">Leukoencephalopathy, diffuse hereditary, with spheroids</a> </td> <td class="info" > Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=547">Leukoencephalopathy with mild cerebellar ataxia and white matter edema</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=549">Leydig cell hypoplasia due to complete LH resistance</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=550">Leydig cell hypoplasia due to partial LH resistance</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=551">Leydig cell hypoplasia, type 1</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1141">Liddle syndrome; LIDLS</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=552">Li-Fraumeni syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=553">Ligneous conjunctivitis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=554">Limited cutaneous systemic sclerosis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1095">Lipodystrophy, familial partial, type 6; FPLD6</a> </td> <td class="info" > Familial partial lipodystrophy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=555">Lipoma</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=556">Lipomyelocele</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=557">Lipomyelomeningocele</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=558">Lissencephaly 3</a> </td> <td class="info" > Lissencephaly due to TUBA1A mutation </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1241">Localized scleroderma</a> </td> <td class="info" > circumscribed scleroderma <b>|</b> localised morphea <b>|</b> morphea </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=559">Loeys-Dietz syndrome 1; LDS1</a> </td> <td class="info" > Loeys-Dietz syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=560">Loeys-Dietz syndrome 2; LDS2</a> </td> <td class="info" > Aortic aneurysm, familial thoratic 3; AAT3 <b>|</b> Familial thoracic aortic aneurysm and aortic dissection <b>|</b> Loeys-Dietz syndrome <b>|</b> Marfan syndrome type 2 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1165">Lone Atrial Fibrillation</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=563">Long QT syndrome</a> </td> <td class="info" > </td> <td class="info" > 0 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=565">Long QT syndrome 13; LQT13</a> </td> <td class="info" > Long QT syndrome <b>|</b> Romano-Ward syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=564">Long QT syndrome 1; LQT1</a> </td> <td class="info" > Long QT syndrome <b>|</b> Romano-Ward syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=935">Long QT syndrome 2; LQT2</a> </td> <td class="info" > Long QT syndrome <b>|</b> Romano-Ward syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=566">Long QT syndrome 3; LQT3</a> </td> <td class="info" > Long QT syndrome <b>|</b> Romano-Ward syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=567">Lung cancer</a> </td> <td class="info" > </td> <td class="info" > 13 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=574">Lupus erythematosus</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 5 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1055">Lupus nephritis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1062">Lyme disease</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=575">Lymphedema, hereditary IA</a> </td> <td class="info" > Hereditary lymphedema <b>|</b> Milroy disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=576">Lymphoadenopathic mastocytosis with eosinophilia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1047">Lymphoma, Hodgkin, Classic; CHL</a> </td> <td class="info" > Hodgkin lymphoma <b>|</b> Hodgkin's lymphoma </td> <td class="info" > 1 </td> <td class="info" > 3 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=578">Lymphoma, non-hodgkin, familial</a> </td> <td class="info" > Non-Hodgkin lymphoma </td> <td class="info" > 4 </td> <td class="info" > 2 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=579">Lymphoproliferative syndrome 1</a> </td> <td class="info" > Autosomal recessive lymphoproliferative disease <b>|</b> Lymphoproliferative disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1008">Lymphoproliferative syndrome, X-linked, 2; XLP2</a> </td> <td class="info" > Duncan disease <b>|</b> Duncan's syndrome <b>|</b> Lymphoproliferative disease <b>|</b> X-linked lymphoproliferative disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td colspan="3"> </td> </tr> <tr> <td class="info" style="border-right:none;" colspan="2"><a style="font-size:110%;font-weight:bold;color:black;" name="M">M</a></td> <td class="info" style="text-align:right; border-left:none;" colspan="2"><a style="font-weight:normal;font-size:95%;" href="#top">Back to top</a></td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=580">Macrodactyly of fingers, unilateral</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1068">Macular degeneration, age-related, 10; ARMD10</a> </td> <td class="info" > Age related macular degeneration </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=46">Macular degeneration, age-related, 12; ARMD12</a> </td> <td class="info" > Age-related macular degeneration </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=581">Macular degeneration, age-related, 14; ARMD14</a> </td> <td class="info" > Age-related macular degeneration </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1067">Macular degeneration, age-related, 1; ARMD1</a> </td> <td class="info" > Age-related macular degeneration </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=582">Maffucci syndrome</a> </td> <td class="info" > </td> <td class="info" > 0 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=147">Major affective disorder 1; MAFD1</a> </td> <td class="info" > Bipolar affective disorder <b>|</b> Manic depressive-psychosis </td> <td class="info" > 5 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=608">Major affective disorder 2; MAFD2</a> </td> <td class="info" > Bipolar affective disorder </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=583">Major depressive disorder; MDD</a> </td> <td class="info" > </td> <td class="info" > 4 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=586">Male infertility with normal virilization due to meiosis defect</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=588">Malignant hyperthermia, susceptibility to, 5</a> </td> <td class="info" > Malignant hyperthermia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=587">Malignant hyperthermia, susceptibility to, 1; MHS1</a> </td> <td class="info" > Malignant hyperthermia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=589">Malignant mesothelioma</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=590">Malignant migrating partial seizures of infancy</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=591">Mantle cell lymphoma</a> </td> <td class="info" > </td> <td class="info" > 3 </td> <td class="info" > 3 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=993">Mast cell disease</a> </td> <td class="info" > Maculopapular cutaneous mastocytosis <b>|</b> Typical urticaria pigmentosa <b>|</b> Urticaria pigmentosa </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1194">Mastocytosis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 4 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=592">Maternal hyperphenylalaninemia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=596">Maturity-onset diabetes of the young; MODY</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=595">Maturity-onset diabetes of the young, type 11; MODY11</a> </td> <td class="info" > Maturity-onset diabetes of the young <b>|</b> MODY </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=594">Maturity-onset diabetes of the young, type 1; MODY1</a> </td> <td class="info" > Maturity-onset diabetes of the young <b>|</b> MODY </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1083">Maturity-onset diabetes of the young, type 2; MODY2</a> </td> <td class="info" > Maturity-onset diabetes of the young <b>|</b> MODY </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=597">Meconium ileus</a> </td> <td class="info" > Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=599">Medulloblastoma</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=600">Megalencephaly-capillary malformation-polymicrogyria syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=601">Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1; MPPH1</a> </td> <td class="info" > Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=602">Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2; MPPH2</a> </td> <td class="info" > Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=603">Megaloblastic anemia due to dihydrofolate reductase deficiency</a> </td> <td class="info" > Constitutional megaloblastic anemia with severe neurologic disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=987">Melanocytic nevus syndrome, congenital; CMNS</a> </td> <td class="info" > Congenital melanocytic nevus <b>|</b> Large congenital melanocytic nevus </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=604">Melanoma</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=983">Melanoma, cutaneous malignant, susceptibility to, 1; CMM1</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=606">Melanoma, cutaneous malignant, susceptibility to, 3; CMM3</a> </td> <td class="info" > Familial melanoma </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=605">Melanoma, cutaneous malignant, susceptibility to, 5; CMM5</a> </td> <td class="info" > Familial melanoma </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=607">Melanoma, cutaneous malignant, susceptibility to, 8; CMM8</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=989">Melanosis, neurocutaneous; NCMS</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1074">Melioidosis, susceptibility to</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1102">Membranous nephropathy, susceptibility to; MBNP</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=609">Mental retardation and microcephaly with pontine and cerebellar hypoplasia</a> </td> <td class="info" > X-linked intellectual disability, Najm type </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=611">Mental retardation, autosomal dominant 16; MRD16</a> </td> <td class="info" > Autosomal dominant non-syndromic intellectual disability </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1011">Mental retardation, autosomal dominant 30; MRD30</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=116">Mental retardation, autosomal dominant 6; MRD6</a> </td> <td class="info" > Autosomal dominant non-syndromic intellectual disability </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=612">Mental retardation, autosomal dominant 7; MRD7</a> </td> <td class="info" > Autosomal dominant non-syndromic intellectual disability </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=613">Mental retardation, autosomal dominant 8; MRD8</a> </td> <td class="info" > Autosomal dominant non-syndromic intellectual disability </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=121">Mental retardation, autosomal recessive, 6; MRT6</a> </td> <td class="info" > Autosomal recessive non-syndromic intellectual disability </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=614">Mental retardation, hearing impairment, cranial malformations, hyperactivity</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=615">Mental retardation, language delay, hyperactivity, aggression, hearing impairment, cranial malformation, seizures</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=610">Mental retardation syndrome, X-linked, Siderius type</a> </td> <td class="info" > X-linked intellectual disability, Siderius type </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=616">Mental retardation, X-linked 19; MRX19</a> </td> <td class="info" > Non-specific X-linked mental retardation <b>|</b> X-linked non-syndromic intellectual disability </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=617">Mental retardation, X-linked 30; MRX30</a> </td> <td class="info" > Non-specific X-linked mental retardation <b>|</b> X-linked non-syndromic intellectual disability </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=961">Mental retardation, X-linked 88; MRX88</a> </td> <td class="info" > Non-specific X-linked mental retardation <b>|</b> X-linked non-syndromic intellectual disability </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=618">Mental retardation, X-linked, syndromic, Claes-Jensen type</a> </td> <td class="info" > Syndromic X-linked intellectual disability due to JARID1C mutation </td> <td class="info" > 0 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=963">Mental retardation, X-linked, syndromic, Wu type; MRXSW</a> </td> <td class="info" > X-linked intellectual disability due to GRIA3 anomalies </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1076">Metabolic syndrome</a> </td> <td class="info" > Metabolic syndrome X </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=620">Metaphyseal anadysplasia 2; MANDP2</a> </td> <td class="info" > Metaphyseal anadysplasia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=522">Metaphyseal chondrodysplasia, Jansen type</a> </td> <td class="info" > Jansen's metaphyseal chondrodysplasia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=621">Metastatic melanoma</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=623">Metatropic dysplasia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=624">Mevalonic aciduria</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1123">Microcephaly and chorioretinopathy, autosomal recessive, 2; MCCRP2</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=123">Microcephaly 12, primary, autosomal recessive; MCPH12</a> </td> <td class="info" > Autosomal recessive primary microcephaly </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1007">Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation; MCLMR</a> </td> <td class="info" > Microcephaly - lymphedema - chorioretinopathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=593">Microphthalmia, syndromic 12; MCOPS12</a> </td> <td class="info" > Matthew-Wood syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=625">Microvascular complications of diabetes, susceptibility to, 1; MVCD1</a> </td> <td class="info" > </td> <td class="info" > 0 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=626">Microvascular complications of diabetes, susceptibility to, 3; MVCD3</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=627">Migraine, familial hemiplegic, 1; FHM1</a> </td> <td class="info" > Familial hemiplegic migraine <b>|</b> Familial or sporadic hemiplegic migraine </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=628">Migraine, familial hemiplegic, 3; FHM3</a> </td> <td class="info" > Familial hemiplegic migraine <b>|</b> Familial or sporadic hemiplegic migraine </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=629">Migraine, with or without aura, susceptibility to, 13</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=417">Mild hemophilia A</a> </td> <td class="info" > Hemophilia A; HEMA </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=630">Mild hemophilia B</a> </td> <td class="info" > Hemophilia B; HEMB </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=631">Mild hyperphenylalaninemia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=632">Mild phenylketonuria</a> </td> <td class="info" > Phenylketonuria </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=633">Minicore myopathy with external ophthalmoplegia</a> </td> <td class="info" > Congenital multicore myopathy with external ophthalmoplegia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=635">Minimally differentiated acute myeloblastic leukemia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=634">Minimal pigment oculocutaneous albinism type 1</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1085">Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy); MTDPS8A</a> </td> <td class="info" > Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1086">Mitochondrial neurogastrointestinal encephalomyopathy</a> </td> <td class="info" > Mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1277">Mitochondrial pyruvate carrier deficiency</a> </td> <td class="info" > Familial atrial fibrillation </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=418">Moderately severe hemophilia A</a> </td> <td class="info" > Hemophilia A; HEMA </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=636">Moderately severe hemophilia B</a> </td> <td class="info" > Hemophilia B; HEMB </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=637">Mosaic variegated aneuploidy syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=638">Mosaic variegated aneuploidy syndrome 1; MVA1</a> </td> <td class="info" > Mosaic variegated aneuploidy syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=974">Muckle-Wells syndrome</a> </td> <td class="info" > CAPS2 <b>|</b> cryopyrin-associated periodic syndrome 2 <b>|</b> MWS <b>|</b> urticaria-deafness-amyloidosis syndrome </td> <td class="info" > 1 </td> <td class="info" > 2 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=640">Mucolipidosis IV</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=641">Mucopolysaccharidosis type IVA</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=642">Muenke syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1233">Multicentric Castleman disease</a> </td> <td class="info" > Multicentric giant lymph node hyperplasia </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=643">Multicentric osteolysis, nodulosis, and arthropathy</a> </td> <td class="info" > Nodulosis-arthropathy-osteolysis syndrome </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=644">Multiple endocrine neoplasia IIA</a> </td> <td class="info" > Multiple endocrine neoplasia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=645">Multiple endocrine neoplasia IIB</a> </td> <td class="info" > Multiple endocrine neoplasia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1204">Multiple myeloma</a> </td> <td class="info" > plasma cell myeloma </td> <td class="info" > 1 </td> <td class="info" > 4 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=335">Multiple pterygium syndrome, escobar variant; EVMPS</a> </td> <td class="info" > Autosomal recessive multiple pterygium syndrome <b>|</b> Autosomal recessive non-lethal multiple pterygium <b>|</b> Escobar syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=647">Multiple pterygium syndrome, lethal type; LMPS</a> </td> <td class="info" > Lethal multiple pterygium syndrome </td> <td class="info" > 3 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=648">Multiple sclerosis</a> </td> <td class="info" > </td> <td class="info" > 10 </td> <td class="info" > 6 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=649">Multiple self-healing squamous epithelioma, susceptibility to; MSSE</a> </td> <td class="info" > Multiple keratoacanthoma, Ferguson-Smith type </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=650">Muscular dystrophy, limb-girdle, type 2</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=651">Myasthenia gravis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 4 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1105">Myasthenic syndrome, congenital, 1A, slow-channel; CMS1A</a> </td> <td class="info" > Congenital myasthenic syndrome <b>|</b> Postsynaptic congenital myasthenic syndromes </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1106">Myasthenic syndrome, congenital, 2A, slow-channel; CMS2A</a> </td> <td class="info" > Congenital myasthenic syndrome <b>|</b> Postsynaptic congenital myasthenic syndromes </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1107">Myasthenic syndrome, congenital, 3A, slow-channel; CMS3A</a> </td> <td class="info" > Congenital myasthenic syndrome <b>|</b> Postsynaptic congenital myasthenic syndromes </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1108">Myasthenic syndrome, congenital, 4A, slow-channel; CMS4A</a> </td> <td class="info" > Congenital myasthenic syndrome <b>|</b> Postsynaptic congenital myasthenic syndromes </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1115">Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; CMS9</a> </td> <td class="info" > Congenital myasthenic syndrome <b>|</b> Postsynaptic congenital myasthenic syndromes </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1109">Myasthenic syndrome, congenital, 1B, fast-channel; CMS1B</a> </td> <td class="info" > Congenital myasthenic syndrome <b>|</b> Postsynaptic congenital myasthenic syndromes </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1110">Myasthenic syndrome, congenital, 3B, fast-channel; CMS3B</a> </td> <td class="info" > Congenital myasthenic syndrome <b>|</b> Postsynaptic congenital myasthenic syndromes </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1111">Myasthenic syndrome, congenital, 4B, fast-channel; CMS4B</a> </td> <td class="info" > Congenital myasthenic syndrome <b>|</b> Postsynaptic congenital myasthenic syndromes </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1112">Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency; CMS2C</a> </td> <td class="info" > Congenital myasthenic syndrome <b>|</b> Postsynaptic congenital myasthenic syndromes </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1113">Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency; CMS3C</a> </td> <td class="info" > Congenital myasthenic syndrome <b>|</b> Postsynaptic congenital myasthenic syndromes </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1114">Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency; CMS4C</a> </td> <td class="info" > Congenital myasthenic syndrome <b>|</b> Postsynaptic congenital myasthenic syndromes </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=652">Myasthenic syndrome, congenital, 16; CMS16</a> </td> <td class="info" > Congenital myasthenic syndrome <b>|</b> Myasthenic syndrome, congenital, acetazolamide-responsive <b>|</b> Postsynaptic congenital myasthenic syndromes </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1116">Myasthenic syndrome, congenital, 6, presynaptic; CMS6</a> </td> <td class="info" > Congenital myasthenic syndrome <b>|</b> Presynaptic congenital myasthenic syndromes </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=654">Mycobacterium tuberculosis, susceptibility to</a> </td> <td class="info" > </td> <td class="info" > 3 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1248">Mycosis fungoides</a> </td> <td class="info" > Alibert-Bazin syndrome <b>|</b> granuloma fungoides </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1201">Myelodysplastic syndrome</a> </td> <td class="info" > </td> <td class="info" > 0 </td> <td class="info" > 2 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=655">Myelofibrosis</a> </td> <td class="info" > Myelofibrosis with myeloid metaplasia </td> <td class="info" > 3 </td> <td class="info" > 2 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=657">Myeloid neoplasm associated with FGFR1 rearrangement</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=658">Myeloid neoplasm associated with PDGFRA rearrangement</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=659">Myeloid neoplasm associated with PDGFRB rearrangement</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=660">Myeloma, multiple</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=661">Myelomeningocele</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1093">Myeloperoxidase deficiency; MPOD</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=662">Myeloproliferative disorder, chronic, with eosinophilia</a> </td> <td class="info" > Unclassified chronic myeloproliferative disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1291">myocarditis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=304">Myoclonic-astastic epilepsy</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=663">Myoclonic dystonia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=664">Myofibromatosis, infantile, 1; IMF1</a> </td> <td class="info" > Infantile myofibromatosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1156">Myofibromatosis, infantile, 2; IMF2</a> </td> <td class="info" > Infantile myofibromatosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=112">Myopathy, centronuclear, 1; CNM1</a> </td> <td class="info" > Autosomal dominant centronuclear myopathy <b>|</b> Centronuclear myopathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1103">Myopathy, centronuclear, 5; CNM5</a> </td> <td class="info" > Autosomal recessive centronuclear myopathy <b>|</b> Centronuclear myopathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=666">Myopathy, early-onset, with fatal cardiomyopathy</a> </td> <td class="info" > Early-onset myopathy with fatal cardiomyopathy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1227">Myositis</a> </td> <td class="info" > </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=770">Myotonia, Potassium-Aggravated</a> </td> <td class="info" > Acetazolamide-responsive myotonia <b>|</b> Myotonia fluctuans <b>|</b> Myotonia permanens </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=667">Myotonic dystrophy 1</a> </td> <td class="info" > Steinert myotonic dystrophy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=668">Myxoma, intracardiac</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td colspan="3"> </td> </tr> <tr> <td class="info" style="border-right:none;" colspan="2"><a style="font-size:110%;font-weight:bold;color:black;" name="N">N</a></td> <td class="info" style="text-align:right; border-left:none;" colspan="2"><a style="font-weight:normal;font-size:95%;" href="#top">Back to top</a></td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=125">Nail disorder, nonsyndromic congenital, 10; NDNC10</a> </td> <td class="info" > Autosomal-recessive nail dysplasia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=111">Nakajo-Nishimura syndrome</a> </td> <td class="info" > Amyotrophy - fat tissue anomaly <b>|</b> Autoinflammation, lipodystrophy, and dermatosis syndrome <b>|</b> Secondary hypertrophic osteoperiostosis with pernio </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=669">Narcolepsy-cataplexy</a> </td> <td class="info" > Cataplexy and narcolepsy </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=670">Nasopharyngeal carcinoma</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=671">Neonatal severe primary hyperparathyroidism</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=672">Nephrogenic diabetes insipidus</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=673">Nephrogenic syndrome of inappropriate antidiuresis</a> </td> <td class="info" > Inappropriate antidiuretic hormone secretion syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=493">Nephronophthisis 2; NPHP2</a> </td> <td class="info" > Nephronophthisis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=674">Nephronophthisis 9; NPHP9</a> </td> <td class="info" > Nephronophthisis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=675">Nephrotic syndrome, type 9; NPHS9</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1290">Netherton syndrome</a> </td> <td class="info" > Bamboo hair syndrome <b>|</b> Com猫l-Netherton syndrome </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=676">Neuroblastoma</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=677">Neuroblastoma, susceptibility to, 3; NBLST3</a> </td> <td class="info" > Neuroblastoma </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=678">Neurodegeneration with optic atrophy, childhood onset</a> </td> <td class="info" > Early-onset progressive neurodegeneration - blindness - ataxia - spasticity </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1278">Neurodevelopmental disorder with autism</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1281">Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements; NEDNEH</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1266">Neuromyelitis optica</a> </td> <td class="info" > Devic's disease/syndrome <b>|</b> Neuromyelitis optica spectrum disorder <b>|</b> NMOSD </td> <td class="info" > 1 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=679">Neuropathic pain</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=995">Neuropathy, hereditary sensory and autonomic, type IA; HSAN1A</a> </td> <td class="info" > Hereditary sensory and autonomic neuropathy <b>|</b> Hereditary sensory and autonomic neuropathy type 1 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=680">Neuropathy, hereditary sensory and autonomic, type IIA; HSAN2A</a> </td> <td class="info" > Hereditary sensory and autonomic neuropathy <b>|</b> Hereditary sensory and autonomic neuropathy type 2 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=681">Neuropathy, hereditary sensory and autonomic, type VII; HSAN7</a> </td> <td class="info" > Hereditary sensory and autonomic neuropathy <b>|</b> Hereditary sensory and autonomic neuropathy type 7 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=682">Neuropathy, hereditary sensory, type IE; HSN1E</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=683">Neurosensory nonsyndromic recessive deafness 4; NSRD4</a> </td> <td class="info" > Autosomal recessive non-syndromic sensorineural deafness type DFNB <b>|</b> Dilated vestibular aquaduct <b>|</b> Enlarged vestibular aqueduct </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=684">Neutropenia, severe congenital 1, autosomal dominant</a> </td> <td class="info" > Autosomal dominant severe congenital neutropenia <b>|</b> Severe congenital neutropenia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=685">Neutrophilia, hereditary</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=686">Nevus, epidermal</a> </td> <td class="info" > </td> <td class="info" > 3 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=687">Nicolaides-Baraitser syndrome</a> </td> <td class="info" > Intellectual disability - sparse hair - brachydactyly </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=688">Nicotine dependence, susceptibility to</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=689">Niemann-Pick disease</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1213">Night blindness</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=973">Night blindness, congenital stationary, autosomal dominant 2; CSNBAD2</a> </td> <td class="info" > Congenital stationary night blindness </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=693">Night blindness, congenital stationary, type 2A ; CSNB2A</a> </td> <td class="info" > Congenital stationary night blindness </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=691">Night blindness, congenital stationary, type 1B; CSNB1B</a> </td> <td class="info" > Congenital stationary night blindness </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=692">Night blindness, congenital stationary, type 1C; CSNB1C</a> </td> <td class="info" > Congenital stationary night blindness </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=690">Night blindness, congenital stationary, type 1E; CSNB1E</a> </td> <td class="info" > Congenital stationary night blindness </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=694">Nodular urticaria pigmentosa</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1161">Non-allergic (intrinsic) asthma</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=696">Nonautoimmune hyperthyroidism</a> </td> <td class="info" > Familial hyperthyroidism due to mutations in TSH receptor </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1219">non-Hodgkin lymphoma</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 7 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=695">Non syndromic autosomal dominant long QT-syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=122">Non-syndromic hereditary deafness</a> </td> <td class="info" > nonsyndromic deafness </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=979">Noonan syndrome 3; NS3</a> </td> <td class="info" > Noonan syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=698">Noonan syndrome 5; NS5</a> </td> <td class="info" > Noonan syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=986">Noonan syndrome 6; NS6</a> </td> <td class="info" > Noonan syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=699">Noonan syndrome 7; NS7</a> </td> <td class="info" > Noonan syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=700">Normokalemic periodic paralysis</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=701">Normosmic congenital hypogonadotropic hypogonadism</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=702">Nystagmus 6, congenital, X-linked; NYS6</a> </td> <td class="info" > Congenital nystagmus <b>|</b> Idiopathic infantile nystagmus </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td colspan="3"> </td> </tr> <tr> <td class="info" style="border-right:none;" colspan="2"><a style="font-size:110%;font-weight:bold;color:black;" name="O">O</a></td> <td class="info" style="text-align:right; border-left:none;" colspan="2"><a style="font-weight:normal;font-size:95%;" href="#top">Back to top</a></td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=703">Obesity</a> </td> <td class="info" > </td> <td class="info" > 4 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=704">Obesity due to MC3R deficiency</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=705">Obesity due to melanocortin 4 receptor deficiency</a> </td> <td class="info" > Obesity </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=706">Obesity due to prohormone convertase I deficiency</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=707">Obesity, hyperphagia, and developmental delay; OBHD</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1128">Obsessive-compulsive disorder; OCD</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=962">Ocular albinism, type I; OA1</a> </td> <td class="info" > Ocular albinism <b>|</b> X-linked recessive ocular albinism </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=709">Ocular albinism with congenital sensorineural deafness</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=712">Oculocutaneous albinism type 2</a> </td> <td class="info" > Oculocutaneous albinism </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=710">Oculocutaneous albinism type 1A</a> </td> <td class="info" > Oculocutaneous albinism </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=711">Oculocutaneous albinism type 1B</a> </td> <td class="info" > Oculocutaneous albinism </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=713">Oguchi disease 2</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1179">Ohtahara syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=714">Oligoarticular juvenile arthritis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=715">Oligodontia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=718">Omenn syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1137">Opsoclonus-myoclonus syndrome</a> </td> <td class="info" > dancing eye syndrome <b>|</b> Kinsbourne syndrome <b>|</b> OMA syndrome <b>|</b> paraneoplastic opsoclonus-myoclonus <b>|</b> paraneoplastic opsoclonus-myoclonus-ataxia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1125">Orthostatic intolerance</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=719">Osteoarthritis</a> </td> <td class="info" > </td> <td class="info" > 6 </td> <td class="info" > 25 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=720">Osteogenesis imperfecta, type XIII</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=721">Osteogenic sarcoma</a> </td> <td class="info" > Osteosarcoma </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=722">Osteoglophonic dysplasia</a> </td> <td class="info" > Osteoglophonic dwarfism </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=723">Osteoporosis</a> </td> <td class="info" > </td> <td class="info" > 3 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1234">Otitis externa</a> </td> <td class="info" > swimmer's ear </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1177">OTULIN-related autoinflammatory syndrome (ORAS)</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=724">Ovarian cancer</a> </td> <td class="info" > </td> <td class="info" > 7 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=725">Ovarian dysgenesis 1; ODG1</a> </td> <td class="info" > 46,XX gonadal dysgenesis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=726">Ovarian hyperstimulation syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td colspan="3"> </td> </tr> <tr> <td class="info" style="border-right:none;" colspan="2"><a style="font-size:110%;font-weight:bold;color:black;" name="P">P</a></td> <td class="info" style="text-align:right; border-left:none;" colspan="2"><a style="font-weight:normal;font-size:95%;" href="#top">Back to top</a></td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=717">Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques</a> </td> <td class="info" > Olmsted syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1059">Pancolitis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=982">Pancreatic cancer</a> </td> <td class="info" > </td> <td class="info" > 3 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=727">Panic disorder 1; PAND1</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=729">Papillon-Lefevre syndrome</a> </td> <td class="info" > Papillon-Lefevre disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=730">Paramyotonia Congenita of Von Eulenburg</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=731">Parastremmatic dwarfism</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=732">Parkinson Disease</a> </td> <td class="info" > Parkinson's disease </td> <td class="info" > 5 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=733">Parkinson disease 5, autosomal dominant; PARK5</a> </td> <td class="info" > Parkinson's disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=735">Parkinson disease 8, autosomal dominant; PARK8</a> </td> <td class="info" > Hereditary Parkinson disease with late-onset <b>|</b> Parkinson's disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=734">Parkinson disease 6, autosomal recessive early-onset; PARK6</a> </td> <td class="info" > Parkinson's disease <b>|</b> Young adult-onset Parkinsonism </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1126">Parkinsonism-dystonia, infantile; PKDYS</a> </td> <td class="info" > Infantile dystonia-parkinsonism </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=736">Paroxysmal Extreme Pain Disorder</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=737">Partial androgen insensitivity syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1022">Partial hydatidiform mole</a> </td> <td class="info" > Hydatidiform mole, recurrent, 1; HYDM1 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=738">Pediatric hepatocellular carcinoma</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=739">Pediatric systemic lupus erythematosus</a> </td> <td class="info" > Systemic lupus erythematosus </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1237">Pemphigus</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 2 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=740">Pendred syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=741">Periodic fever, menstrual cycle dependent</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=742">Periodic paralysis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1275">Periodontal disease</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=743">Periodontitis, aggressive, 1</a> </td> <td class="info" > Aggressive periodontitis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=747">Persistent hyperplastic primary vitreous</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=748">Persistent Mullerian duct syndrome, types I and II</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=749">Peters anomaly</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=750">Peutz-Jeghers syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=751">Pfeiffer syndrome type 1</a> </td> <td class="info" > Pfeiffer syndrome </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=752">Pfeiffer syndrome type 2</a> </td> <td class="info" > Pfeiffer syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=753">Pfeiffer syndrome type 3</a> </td> <td class="info" > Pfeiffer syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=992">Phakomatosis pigmentokeratotica</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=754">Pheochromocytoma</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=755">Piebaldism</a> </td> <td class="info" > Piebald trait </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=756">Pigmented nodular adrenocortical disease, primary, 1; PPNAD1</a> </td> <td class="info" > Primary pigmented nodular adrenocortical disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=757">Pilocytic astrocytoma</a> </td> <td class="info" > </td> <td class="info" > 4 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=266">Pituitary adenoma, growth hormone-secreting, 1; PAGH1</a> </td> <td class="info" > Growth hormone secreting pituitary adenoma </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=758">Plaque-form urticaria pigmentosa</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=585">Plasmodium vivax malaria</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=759">Platelet-activating factor acetylhydrolase deficiency</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=761">Pneumocystis pneumonia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1077">Pneumonia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=762">Polycystic kidney disease 2</a> </td> <td class="info" > Autosomal dominant polycystic kidney disease <b>|</b> Polycystic kidney disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=763">Polycythemia vera</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=764">Polyhydramnios, megalencephaly, and symptomatic epilepsy; PMSE</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1239">Polymyalgia rheumatica</a> </td> <td class="info" > </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1265">Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC)</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1247">polyostotic sclerosing histiocytosis</a> </td> <td class="info" > Erdheim鈥揅hester disease <b>|</b> Erdheim鈥揅hester syndrome </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=765">Polyposis syndrome, hereditary mixed, 2; HMPS2</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1094">Polysubstance abuse, susceptibility to; PSAB</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=766">Pontocerebellar hypoplasia type 1A; PCH1A</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=767">Popliteal pterygium syndrome 2, lethal type</a> </td> <td class="info" > Bartsocas-Papas syndrome <b>|</b> Popliteal pterygium syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=288">Porokeratosis 3, disseminated superficial actinic type; POROK3</a> </td> <td class="info" > Disseminated superficial actinic porokeratosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=768">Postaxial acrofacial dysostosis</a> </td> <td class="info" > Miller syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=193">Posterior polar cataract</a> </td> <td class="info" > Cataract 6, multiple types; CTRCT6 <b>|</b> Posterior subcapsular cataract </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=769">Post-traumatic stress disorder</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=771">Prader-Willi syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=772">Precocious puberty, central, 1</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=906">Precocious puberty, male-limited</a> </td> <td class="info" > Familial male-limited precocious puberty </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=773">Precursor B-cell acute lymphoblastic leukemia</a> </td> <td class="info" > Acute lymphocytic leukemia <b>|</b> Leukemia, acute lymphoblastic; ALL <b>|</b> Leukemia, B-cell acute lymphoblastic, susceptibility to </td> <td class="info" > 4 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=774">Precursor T-cell acute lymphoblastic leukemia</a> </td> <td class="info" > Acute lymphocytic leukemia <b>|</b> Leukemia, acute lymphoblastic; ALL <b>|</b> Leukemia, T-cell acute lymphoblastic, susceptibility to </td> <td class="info" > 3 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1158">Preeclampsia</a> </td> <td class="info" > eclampsia 1 <b>|</b> PEE1 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=775">Pregnancy loss, recurrent, susceptibility to, 1</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=776">Pregnancy loss, recurrent, susceptibility to, 2</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=777">Prekallikrein deficiency</a> </td> <td class="info" > Fletcher factor deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=778">Premature chromatid separation trait</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=779">Premature ovarian failure 7; POF7</a> </td> <td class="info" > Primary ovarian failure </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1061">Preterm birth</a> </td> <td class="info" > Premature labor </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1049">Primary adrenal insufficiency</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=780">Primary aldosteronism, seizures, and neurologic abnormalities; PASNA</a> </td> <td class="info" > Aldosterone-producing adenoma with seizures and neurological abnormalities </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1214">Primary cutaneous amyloidosis</a> </td> <td class="info" > familial primary localized cutaneous amyloidosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=782">Primary hypomagnesemia with secondary hypocalcemia</a> </td> <td class="info" > Hypomagnesemia 1, intestinal </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=783">Primary ovarian failure</a> </td> <td class="info" > Premature ovarian failure </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1235">Primary progressive multiple sclerosis</a> </td> <td class="info" > PPMS <b>|</b> Primary-progressive MS </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=784">Primary sclerosing cholangitis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=785">Progressive cone dystrophy</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1087">Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5</a> </td> <td class="info" > Autosomal dominant progressive external ophthalmoplegia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=786">Progressive familial heart block, type IA; PFHB1A</a> </td> <td class="info" > Familial progressive cardiac conduction defect </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=787">Progressive familial heart block, type IB, PFHB1B</a> </td> <td class="info" > Familial progressive cardiac conduction defect </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=788">Progressive non-fluent aphasia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=789">Prolidase deficiency</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=790">Prostate cancer</a> </td> <td class="info" > </td> <td class="info" > 9 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=791">Prostate cancer/brain cancer susceptibility</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=792">Proteus syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=793">Prothrombin deficiency, congenital</a> </td> <td class="info" > Congenital factor II deficiency <b>|</b> Prothrombin deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=292">Prune belly syndrome</a> </td> <td class="info" > Abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism <b>|</b> Eagle-Barrett syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1231">Pruritus</a> </td> <td class="info" > </td> <td class="info" > 0 </td> <td class="info" > 4 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=794">Pseudocorpus luteum insufficiency</a> </td> <td class="info" > Progesterone resistance </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=795">Pseudohyperaldosteronism type 2</a> </td> <td class="info" > Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1140">Pseudohypoaldosteronism, type I, autosomal recessive; PHA1B</a> </td> <td class="info" > Autosomal recessive pseudohypoaldosteronism type 1 <b>|</b> Generalized pseudohypoaldosteronism type 1 <b>|</b> Pseudohypoaldosteronism </td> <td class="info" > 3 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=797">Pseudohypoaldosteronism, type IIB; PHA2B</a> </td> <td class="info" > Pseudohypoaldosteronism <b>|</b> Pseudohypoaldosteronism type 2B </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=798">Pseudohypoaldosteronism, type IIC; PHA2C</a> </td> <td class="info" > Pseudohypoaldosteronism <b>|</b> Pseudohypoaldosteronism type 2C </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=799">Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency</a> </td> <td class="info" > Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=800">Pseudoxanthomatous diffuse cutaneous mastocytosis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=801">Psoriasis</a> </td> <td class="info" > </td> <td class="info" > 4 </td> <td class="info" > 58 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1192">Psoriatic arthritis</a> </td> <td class="info" > arthritis psoriatica <b>|</b> arthropathic psoriasis </td> <td class="info" > 0 </td> <td class="info" > 17 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=802">Psychomotor delay</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=804">Pulmonary hypertension, primary, 1; PPH1</a> </td> <td class="info" > Heritable pulmonary arterial hypertension <b>|</b> Idiopathic pulmonary arterial hypertension <b>|</b> Primary pulmonary hypertension </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=803">Pulmonary hypertension, primary 4; PPH4</a> </td> <td class="info" > Heritable pulmonary arterial hypertension <b>|</b> Idiopathic pulmonary arterial hypertension <b>|</b> Primary pulmonary hypertension </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=805">Pulmonary venoocclusive disease 1, autosomal dominant; PVOD1</a> </td> <td class="info" > Pulmonary venoocclusive disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1120">Pulmonary venoocclusive disease 2, autosomal recessive; PVOD2</a> </td> <td class="info" > Pulmonary venoocclusive disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1150">Purine nucleoside phosphorylase deficiency</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=806">Pycnodysostosis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1240">Pyoderma gangrenosum</a> </td> <td class="info" > </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td colspan="3"> </td> </tr> <tr> <td class="info" style="border-right:none;" colspan="2"><a style="font-size:110%;font-weight:bold;color:black;" name="Q">Q</a></td> <td class="info" style="text-align:right; border-left:none;" colspan="2"><a style="font-weight:normal;font-size:95%;" href="#top">Back to top</a></td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=807">Quebec platelet disorder</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td colspan="3"> </td> </tr> <tr> <td class="info" style="border-right:none;" colspan="2"><a style="font-size:110%;font-weight:bold;color:black;" name="R">R</a></td> <td class="info" style="text-align:right; border-left:none;" colspan="2"><a style="font-weight:normal;font-size:95%;" href="#top">Back to top</a></td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=808">Rabson-Mendenhall syndrome</a> </td> <td class="info" > Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=988">RAS-associated autoimmune leukoproliferative disorder; RALD</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=809">Recombinant chromosome 8 syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1133">Rectum cancer</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1029">Recurrent miscarriage</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1197">Relapsing-remitting multiple sclerosis</a> </td> <td class="info" > Relapsing-remitting MS <b>|</b> RRMS </td> <td class="info" > 1 </td> <td class="info" > 12 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=810">Renal agenesis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1132">Renal carcinoma</a> </td> <td class="info" > Kidney carcinoma </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=811">Renal cell carcinoma</a> </td> <td class="info" > </td> <td class="info" > 3 </td> <td class="info" > 3 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=812">Renal cell carcinoma, papillary, 1; RCCP1</a> </td> <td class="info" > Hereditary papillary renal cell carcinoma <b>|</b> Papillary renal cell carcinoma </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=813">Renal glucosuria</a> </td> <td class="info" > Renal glycosuria </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=815">Renal-hepatic-pancreatic dysplasia 2; RHPD2</a> </td> <td class="info" > Renal-hepatic-pancreatic dysplasia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=796">Renal pseudohypoaldosteronism type 1</a> </td> <td class="info" > Pseudohypoaldosteronism, type 1, autosomal dominant; PHA1A </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=814">Renal tubular dysgenesis</a> </td> <td class="info" > </td> <td class="info" > 3 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=817">Resistance to thyrotropin-releasing hormone syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=818">Restenosis and angiogenesis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=819">Reticulate acropigmentation of Kitamura; RAK</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=820">Retinal cone dystrophy 3B; RCD3B</a> </td> <td class="info" > Cone dystrophy with supernormal rod response </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=821">Retinitis pigmentosa 10; RP10</a> </td> <td class="info" > Retinitis pigmentosa </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=822">Retinitis pigmentosa 17; RP17</a> </td> <td class="info" > Retinitis pigmentosa </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=823">Retinitis pigmentosa 37; RP37</a> </td> <td class="info" > Retinitis pigmentosa </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=824">Retinitis pigmentosa 38; RP38</a> </td> <td class="info" > Retinitis pigmentosa </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=972">Retinitis pigmentosa 40; RP40</a> </td> <td class="info" > Retinitis pigmentosa </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=825">Retinitis pigmentosa 45; RP45</a> </td> <td class="info" > Retinitis pigmentosa </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=826">Retinitis pigmentosa 49; RP49</a> </td> <td class="info" > Retinitis pigmentosa </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=827">Retinitis pigmentosa 62; RP62</a> </td> <td class="info" > Retinitis pigmentosa </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=828">Retinitis pigmentosa 67; RP67</a> </td> <td class="info" > Retinitis pigmentosa </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=829">Retinopathy of prematurity</a> </td> <td class="info" > Exudative vitreoretinopathy 1; EVR1 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=830">Rhabdoid tumor predisposition syndrome 2</a> </td> <td class="info" > Familial rhabdoid tumor </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=831">Rheumatoid arthritis</a> </td> <td class="info" > </td> <td class="info" > 19 </td> <td class="info" > 129 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=832">Robinow syndrome, autosomal recessive</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=135">Rolandic epilepsy</a> </td> <td class="info" > Benign familial epilepsy of childhood with rolandic spikes </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=833">Rolandic epilepsy - speech dyspraxia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=834">Rubinstein-Taybi syndrome 1; RSTS1</a> </td> <td class="info" > Rubinstein-Taybi syndrome <b>|</b> Rubinstein-Taybi syndrome due to CREBBP mutations </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=835">Rubinstein-Taybi syndrome 2; RSTS2</a> </td> <td class="info" > Rubinstein-Taybi syndrome <b>|</b> Rubinstein-Taybi syndrome due to EP300 haploinsufficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td colspan="3"> </td> </tr> <tr> <td class="info" style="border-right:none;" colspan="2"><a style="font-size:110%;font-weight:bold;color:black;" name="S">S</a></td> <td class="info" style="text-align:right; border-left:none;" colspan="2"><a style="font-weight:normal;font-size:95%;" href="#top">Back to top</a></td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=836">Saethre-Chotzen syndrome</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1202">Sarcoidosis</a> </td> <td class="info" > Boeck sarcoid <b>|</b> lymphogranulomatosis </td> <td class="info" > 0 </td> <td class="info" > 2 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1053">Sarcoidosis, early-onset</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=837">Scaphocephaly, maxillary retrusion, and mental retardation</a> </td> <td class="info" > Familial scaphocephaly syndrome, McGillivray type </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=838">Scapuloperoneal spinal muscular atrophy; SPSMA</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=981">Schimmelpenning-Feuerstein-Mims syndrome; SFM</a> </td> <td class="info" > Linear nevus sebaceus syndrome </td> <td class="info" > 3 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=839">Schizophrenia</a> </td> <td class="info" > </td> <td class="info" > 8 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=840">Schizophrenia 13; SCZD13</a> </td> <td class="info" > Schizophrenia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=841">Schizophrenia 16; SCZD16</a> </td> <td class="info" > Schizophrenia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1258">Schnitzler syndrome</a> </td> <td class="info" > Chronic urticaria with gammopathy <b>|</b> Chronic urticaria with macroglobulinemia </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1221">Scleroderma</a> </td> <td class="info" > systemic sclerosis </td> <td class="info" > 0 </td> <td class="info" > 4 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=842">Seckel syndrome 1</a> </td> <td class="info" > Seckel syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=843">Segawa syndrome, autosomal recessive</a> </td> <td class="info" > Autosomal recessive dopa-responsive dystonia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=844">Segmental progressive overgrowth syndrome with fibroadipose hyperplasia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=140">Seizures, benign familial infantile, 3; BFIS3</a> </td> <td class="info" > Benign familial infantile epilepsy <b>|</b> Benign familial neonatal-infantile seizures </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=137">Seizures, benign familial neonatal, 1; BFNS1</a> </td> <td class="info" > Benign familial neonatal-infantile seizures <b>|</b> Benign familial neonatal seizures <b>|</b> Benign neonatal seizures </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=138">Seizures, benign familial neonatal, 2; BFNS2</a> </td> <td class="info" > Benign familial neonatal seizures <b>|</b> Benign neonatal seizures </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=846">Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance; SESAMES</a> </td> <td class="info" > EAST syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=845">Seizure susceptibility</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=847">Selective pituitary resistance to thyroid hormone</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=848">Selective T-cell defect</a> </td> <td class="info" > Combined immunodeficiency due to ZAP70 deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=994">Semantic dementia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1057">Sepsis</a> </td> <td class="info" > Septicemia </td> <td class="info" > 2 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=849">Septo-optic dysplasia</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=965">Severe achondroplasia - developmental delay - acanthosis nigricans</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1244">severe combined immunodeficiency, autosomal recessive, due to FOXN1 deficiency.</a> </td> <td class="info" > T-cell immunodeficiency, congenital alopecia, and nail dystrophy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=852">Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative</a> </td> <td class="info" > T-B+ severe combined immunodeficiency due to JAK3 deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=850">Severe combined immunodeficiency due to adenosine deaminase deficiency</a> </td> <td class="info" > ADA-SCID <b>|</b> Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=851">Severe combined immunodeficiency due to LCK deficiency</a> </td> <td class="info" > Immunodeficiency 22; IMD22 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1263">Severe congenital neutropenia</a> </td> <td class="info" > Kostmann syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=419">Severe hemophilia A</a> </td> <td class="info" > Hemophilia A; HEMA </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=853">Severe hemophilia B</a> </td> <td class="info" > Hemophilia B; HEMB </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1013">Severe progressive cardiac conduction disorder</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=855">Short QT syndrome-1; SQT1</a> </td> <td class="info" > Familial short QT syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=854">Short QT syndrome 2; SQT2</a> </td> <td class="info" > Familial short QT syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=856">Short QT syndrome-3; SQT3</a> </td> <td class="info" > Familial short QT syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=859">Short-rib thoracic dysplasia 6 with or without polydactyly</a> </td> <td class="info" > Majewski syndrome <b>|</b> Short rib-polydactyly syndrome, Majewski type </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=862">Sickle cell anemia</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=861">Sick sinus syndrome 2, autosomal dominant; SSS2</a> </td> <td class="info" > Atrial fibrillation with bradyarrhythmia <b>|</b> Familial sick sinus syndrome <b>|</b> Sick sinus syndrome <b>|</b> Sinus bradycardia syndrome, familial, autosomal dominant <b>|</b> Sinus node disease, familial, autosomal dominant </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=860">Sick sinus syndrome 1, autosomal recessive; SSS1</a> </td> <td class="info" > Familial sick sinus syndrome <b>|</b> Sick sinus syndrome <b>|</b> Sick sinus syndrome, congenital <b>|</b> Sinus bradycardia syndrome, familial <b>|</b> Sinus node disease, familial, autosomal recessive <b>|</b> Sinus rhythm, congenital absence of </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1245">Simpson-Golabi-Behmel syndrome</a> </td> <td class="info" > Golabi-Rosen syndrome <b>|</b> SGBS1 <b>|</b> Simpson-Golabi-Behmel syndrome type 1 <b>|</b> X-linked dysplasia gigantism syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=863">Sinoatrial node dysfunction and deafness; SANDD</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1136">Sjögren's syndrome</a> </td> <td class="info" > Sicca syndrome <b>|</b> Sjögren-Gougerot syndrome </td> <td class="info" > 2 </td> <td class="info" > 9 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=865">Skin/hair/eye pigmentation, variation in, 2; SHEP2</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=868">Smouldering systemic mastocytosis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=869">Snowflake vitreoretinal degeneration; SVD</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=867">Sodium channelopathy-related small fiber neuropathy</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=870">Speech and neuromotor retardation, hyperactivity, cranial malformation, seizures</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1217">Spermatogenic failure</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=871">Spermatogenic failure 5; SPGF5</a> </td> <td class="info" > Male infertility due to large-headed multiflagellar polyploid spermatozoa </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=872">Spermatogenic failure 7; SPGF7</a> </td> <td class="info" > Non-syndromic male infertility due to sperm motility disorder </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=873">Spermatogenic failure 8; SPGF8</a> </td> <td class="info" > Male infertility with azoospermia or oligozoospermia due to single gene mutation </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=874">Spinal and bulbar muscular atrophy, X-linked 1; SMAX1</a> </td> <td class="info" > Kennedy disease <b>|</b> Kennedy's disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=875">Spinal cord injury</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=113">Spinal muscular atrophy, distal, congenital nonprogressive</a> </td> <td class="info" > Autosomal dominant congenital benign spinal muscular atrophy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1044">Spinal muscular atrophy, type III; SMA3</a> </td> <td class="info" > Kugelberg-Welander disease <b>|</b> Proximal spinal muscular atrophy type 3 <b>|</b> Spinal muscular atrophy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1043">Spinal muscular atrophy, type II; SMA2</a> </td> <td class="info" > Proximal spinal muscular atrophy type 2 <b>|</b> Spinal muscular atrophy </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1041">Spinal muscular atrophy, type I; SMA1</a> </td> <td class="info" > Proximal spinal muscular atrophy type 1 <b>|</b> Spinal muscular atrophy <b>|</b> Werdnig-Hoffmann disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1283">Spinocerebellar Ataxia 42</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=247">Spinocerebellar ataxia, autosomal recessive 13; SCAR13</a> </td> <td class="info" > Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1288">Spinocerebellar ataxia, autosomal recessive 16; SCAR16</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=118">Spinocerebellar ataxia, autosomal recessive 18; SCAR18</a> </td> <td class="info" > Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=876">Spinocerebellar ataxia 11; SCA11</a> </td> <td class="info" > Spinocerebellar ataxia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=877">Spinocerebellar ataxia 13; SCA13</a> </td> <td class="info" > Spinocerebellar ataxia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=878">Spinocerebellar ataxia 14; SCA14</a> </td> <td class="info" > Spinocerebellar ataxia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=879">Spinocerebellar ataxia 19; SCA19</a> </td> <td class="info" > Spinocerebellar ataxia 22; SCA22 <b>|</b> Spinocerebellar ataxia type 19/22 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=880">Spinocerebellar ataxia 20; SCA20</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=881">Spinocerebellar ataxia 26; SCA26</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=882">Spinocerebellar ataxia 6; SCA6</a> </td> <td class="info" > Spinocerebellar ataxia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1287">Spinocerebellar ataxia 48: SCA48, autosomal dominant</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=883">Spondyloepimetaphyseal dysplasia, Missouri type</a> </td> <td class="info" > Metaphyseal anadysplasia <b>|</b> Metaphyseal anadysplasia 1 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=884">Spondyloepiphyseal dysplasia, Maroteaux type</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=885">Spondylometaepiphyseal dysplasia, short limb-hand type</a> </td> <td class="info" > Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=886">Spondylometaphyseal dysplasia, Kozlowski type; SMDK</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=887">Sporadic amyotrophic lateral sclerosis</a> </td> <td class="info" > SALS </td> <td class="info" > 3 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=888">Sporadic nocturnal frontal lobe epilepsy</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1138">Squamous cell carcinoma, head and neck</a> </td> <td class="info" > HNSCC </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1063">Staphylococcal infection</a> </td> <td class="info" > Staphylococcal infectious disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=889">Stargardt disease 1</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=890">Stevens-Johnson syndrome</a> </td> <td class="info" > Severe cutaneous adverse reaction, susceptibility to </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1262">Still's disease, adult onset</a> </td> <td class="info" > </td> <td class="info" > 0 </td> <td class="info" > 2 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1171">STING-associated vasculopathy with onset in infancy</a> </td> <td class="info" > SAVI <b>|</b> STING-associated vasculopathy, infantile-onset </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=891">Stroke, hemorrhagic</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=892">Stroke, ischemic</a> </td> <td class="info" > Cerebral infarction <b>|</b> Cerebrovascular accident </td> <td class="info" > 4 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1098">Succinic semialdehyde dehydrogenase deficiency; SSADHD</a> </td> <td class="info" > 4-hydroxybutyric aciduria </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=894">Sudden infant death syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=895">Sudden unexpected death in epilepsy</a> </td> <td class="info" > SUDEP </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1164">Sudden unexplained death</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1081">Surfactant metabolism dysfunction, pulmonary, 4; SMDP4</a> </td> <td class="info" > Congenital pulmonary alveolar proteinosis <b>|</b> Pulmonary alveolar proteinosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=420">Symptomatic form of hemophilia A in female carriers</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=896">Symptomatic form of hemophilia B in female carriers</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1169">Syndromic X-linked mental retardation due to JARID1C mutation</a> </td> <td class="info" > Mental retardation, X-linked, syndromic, Claes-Jensen type </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1037">Systemic lupus erythematosus</a> </td> <td class="info" > </td> <td class="info" > 6 </td> <td class="info" > 28 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=897">Systemic lupus erythematosus, susceptibility to, 12; SLEB12</a> </td> <td class="info" > Systemic lupus erythematosus </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1075">Systemic lupus erythematosus, susceptibility to, 1; SLEB1</a> </td> <td class="info" > Systemic lupus erythematosus </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1010">Systemic lupus erythematosus, susceptibility to, 2; SLEB2</a> </td> <td class="info" > Systemic lupus erythematosus </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=898">Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1036">Systemic scleroderma</a> </td> <td class="info" > Scleroderma, familial progressive <b>|</b> Systemic sclerosis </td> <td class="info" > 1 </td> <td class="info" > 2 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1135">Sézary syndrome</a> </td> <td class="info" > Sézary lymphoma </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td colspan="3"> </td> </tr> <tr> <td class="info" style="border-right:none;" colspan="2"><a style="font-size:110%;font-weight:bold;color:black;" name="T">T</a></td> <td class="info" style="text-align:right; border-left:none;" colspan="2"><a style="font-weight:normal;font-size:95%;" href="#top">Back to top</a></td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1091">Tatton-Brown-Rahman syndrome; TBRS</a> </td> <td class="info" > Tall stature-intellectual disability-facial dysmorphism syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=900">T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations</a> </td> <td class="info" > Combined immunodeficiency due to STK4 deficiency </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=902">Telangiectasia, hereditary hemorrhagic, type 2</a> </td> <td class="info" > Hereditary hemorrhagic telangiectasia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=901">Telangiectasia macularis eruptiva perstans</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=903">Temperature-sensitive oculocutaneous albinism type 1</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1039">Temporal arteritis</a> </td> <td class="info" > Giant cell arteritis </td> <td class="info" > 1 </td> <td class="info" > 4 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=904">Temporal lobe epilepsy</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1183">Test Disease</a> </td> <td class="info" > </td> <td class="info" > 0 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1019">Testicular cancer</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=905">Testicular germ cell tumor</a> </td> <td class="info" > Seminoma <b>|</b> Testicular pure germ cell tumor </td> <td class="info" > 3 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=907">Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=908">Thanatophoric dysplasia, type I</a> </td> <td class="info" > Thanatophoric dysplasia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=909">Thanatophoric dysplasia, type II</a> </td> <td class="info" > Thanatophoric dysplasia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=910">Thrombocythemia 2; THCYT2</a> </td> <td class="info" > Essential thrombocythemia <b>|</b> Essential thrombocytosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=911">Thrombocythemia 3; THCYT3</a> </td> <td class="info" > Essential thrombocythemia <b>|</b> Essential thrombocytosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=913">Thrombocytopenia 2; THC2</a> </td> <td class="info" > Autosomal thrombocytopenia with normal platelets <b>|</b> Thrombocytopenia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=914">Thrombophilia due to activated protein C resistance</a> </td> <td class="info" > Thrombophilia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=915">Thrombophilia due to antithrombin III deficiency</a> </td> <td class="info" > Thrombophilia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=916">Thrombophilia due to protein C deficiency, autosomal dominant</a> </td> <td class="info" > Hereditary thrombophilia due to congenital protein C deficiency <b>|</b> Thrombophilia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=917">Thrombophilia due to protein C deficiency, autosomal recessive</a> </td> <td class="info" > Hereditary thrombophilia due to congenital protein C deficiency <b>|</b> Thrombophilia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=918">Thrombophilia due to thrombin defect</a> </td> <td class="info" > Thrombophilia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=919">Thrombophilia, X-linked, due to factor IX defect</a> </td> <td class="info" > Thrombophilia </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=920">Thyroid carcinoma, familial medullary</a> </td> <td class="info" > Familial medullary thyroid carcinoma </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=924">Thyroid carcinoma, follicular; FTC</a> </td> <td class="info" > Differentiated thyroid carcinoma <b>|</b> Follicular thyroid carcinoma </td> <td class="info" > 3 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=921">Thyroid carcinoma, papillary</a> </td> <td class="info" > Differentiated thyroid carcinoma <b>|</b> Papillary thyroid carcinoma </td> <td class="info" > 4 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=922">Thyroid dyshormonogenesis 2A; TDH2A</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=923">Thyroid hypoplasia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=925">Thyrotoxic periodic paralysis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=926">Thyrotoxic periodic paralysis, susceptibility to, 1; TTPP1</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=927">Tibial muscular dystrophy, tardive</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=928">Timothy syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=929">Tobacco addiction, susceptibility to</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=194">Total congenital cataract</a> </td> <td class="info" > Cataract 6, multiple types; CTRCT6 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=930">Traumatic and possibly ischemic brain injury</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=426">Tremor, hereditary essential, 1; ETM1</a> </td> <td class="info" > Essential tremor <b>|</b> Hereditary essential tremor </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=931">Trigonocephaly 1; TRIGNO1</a> </td> <td class="info" > Isolated trigonocephaly <b>|</b> Metopic craniosynostosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=933">Tropical pancreatitis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1099">Trypsinogen deficiency</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=934">Tumor predisposition syndrome</a> </td> <td class="info" > BAP1-related tumor predisposition syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=938">Tyrosinemia, type III</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td colspan="3"> </td> </tr> <tr> <td class="info" style="border-right:none;" colspan="2"><a style="font-size:110%;font-weight:bold;color:black;" name="U">U</a></td> <td class="info" style="text-align:right; border-left:none;" colspan="2"><a style="font-weight:normal;font-size:95%;" href="#top">Back to top</a></td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1054">Ulcerative colitis</a> </td> <td class="info" > Inflammatory bowel disease 1; IBD1 </td> <td class="info" > 3 </td> <td class="info" > 24 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=940">Unilateral renal dysplasia</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1064">Urinary tract infection</a> </td> <td class="info" > Acute cystitis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=941">Usher syndrome, type IIC; USH2C</a> </td> <td class="info" > Usher syndrome <b>|</b> Usher syndrome type 2 </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1286">Uveal melanoma</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1198">Uveitis</a> </td> <td class="info" > </td> <td class="info" > 0 </td> <td class="info" > 6 </td> </tr> <tr> <td colspan="3"> </td> </tr> <tr> <td class="info" style="border-right:none;" colspan="2"><a style="font-size:110%;font-weight:bold;color:black;" name="V">V</a></td> <td class="info" style="text-align:right; border-left:none;" colspan="2"><a style="font-weight:normal;font-size:95%;" href="#top">Back to top</a></td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=942">Variation in resting heart rate</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1276">Vascular injury</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1226">Vasculitis</a> </td> <td class="info" > Angiitis </td> <td class="info" > 0 </td> <td class="info" > 3 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=943">Velocardiofacial syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=944">Venous malformations, multiple cutaneous and mucosal</a> </td> <td class="info" > Mucocutaneous venous malformations </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=945">Ventricular fibrillation during myocardial infarction, susceptibility to</a> </td> <td class="info" > Idiopathic ventricular fibrillation, not Brugada type </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=946">Vitamin D-dependent rickets, type 2A</a> </td> <td class="info" > Hypocalcemic vitamin D-resistant rickets <b>|</b> Rickets </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=236">Vitamin K-dependent clotting factors, combined deficiency of, 1; VKCFD1</a> </td> <td class="info" > Hereditary combined deficiency of vitamin K-dependent clotting factors </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=425">Vitamin K-dependent clotting factors, combined deficiency of, 2; VKCFD2</a> </td> <td class="info" > Hereditary combined deficiency of vitamin K-dependent clotting factors </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1251">Vitiligo</a> </td> <td class="info" > </td> <td class="info" > 0 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1033">Vitiligo-associated multiple autoimmune disease susceptibility 1; VAMAS1</a> </td> <td class="info" > Vitiligo-associated autoimmune disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td colspan="3"> </td> </tr> <tr> <td class="info" style="border-right:none;" colspan="2"><a style="font-size:110%;font-weight:bold;color:black;" name="W">W</a></td> <td class="info" style="text-align:right; border-left:none;" colspan="2"><a style="font-weight:normal;font-size:95%;" href="#top">Back to top</a></td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=947">Waardenburg syndrome, type 4A; WS4A</a> </td> <td class="info" > Waardenburg-Shah syndrome <b>|</b> Waardenburg's syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1168">Waldenstrom macroglobulinemia</a> </td> <td class="info" > lymphoplasmacytic lymphoma <b>|</b> Macroglobulinemia, Waldenstrom, somatic included <b>|</b> Macroglobulinemia, Waldenstrom, susceptibility to, 1 <b>|</b> WM </td> <td class="info" > 1 </td> <td class="info" > 2 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=948">Warfarin resistance</a> </td> <td class="info" > Coumarin resistance </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=1088">Weaver syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=949">Wegener granulomatosis</a> </td> <td class="info" > Wegener's granulomatosis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=950">Well-differentiated liposarcoma</a> </td> <td class="info" > Liposarcoma </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=951">West nile virus, susceptibility to</a> </td> <td class="info" > West Nile virus infectious disease </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=952">West syndrome</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=953">WHIM syndrome</a> </td> <td class="info" > Warts, Hypogammaglobulinemia, Infections, and Myelokathexis (WHIM) <b>|</b> Warts-Infections-Leukopenia-Myelokatexis (WILM) </td> <td class="info" > 1 </td> <td class="info" > 1 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=954">Williams-Beuren syndrome</a> </td> <td class="info" > Williams syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=955">Wilm's tumor</a> </td> <td class="info" > Nephroblastoma </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=956">Wilson-Turner X-linked mental retardation syndrome</a> </td> <td class="info" > Wilson-Turner syndrome </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=957">Winchester syndrome</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=958">Wolff-Parkinson-White syndrome</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td colspan="3"> </td> </tr> <tr> <td class="info" style="border-right:none;" colspan="2"><a style="font-size:110%;font-weight:bold;color:black;" name="X">X</a></td> <td class="info" style="text-align:right; border-left:none;" colspan="2"><a style="font-weight:normal;font-size:95%;" href="#top">Back to top</a></td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=960">Xanthinuria type I</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=11">46,XX gonadal dysgenesis</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=12">46,XX sex reversal 1; SRXX1</a> </td> <td class="info" > </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=13">46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency</a> </td> <td class="info" > Pseudovaginal perineoscrotal hypospadias; PPSH </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=14">46,XY disorder of sex development due to isolated 17, 20 lyase deficiency</a> </td> <td class="info" > 46 XY gonadal dysgenesis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=16">46,XY sex reversal 2; SRXY2</a> </td> <td class="info" > 46,XY complete gonadal dysgenesis <b>|</b> 46 XY gonadal dysgenesis <b>|</b> 46,XY partial gonadal dysgenesis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=8">46, XY sex reversal 3; SRXY3</a> </td> <td class="info" > 46,XY complete gonadal dysgenesis <b>|</b> 46 XY gonadal dysgenesis <b>|</b> 46,XY partial gonadal dysgenesis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=9">46, XY sex reversal 6; SRXY6</a> </td> <td class="info" > 46,XY complete gonadal dysgenesis <b>|</b> 46 XY gonadal dysgenesis <b>|</b> 46,XY partial gonadal dysgenesis </td> <td class="info" > 1 </td> <td class="info" > 0 </td> </tr> <tr> <td colspan="3"> </td> </tr> <tr> <td class="info" style="border-right:none;" colspan="2"><a style="font-size:110%;font-weight:bold;color:black;" name="Y">Y</a></td> <td class="info" style="text-align:right; border-left:none;" colspan="2"><a style="font-weight:normal;font-size:95%;" href="#top">Back to top</a></td> </tr> <tr> <td class="info" style="font-size:100%; text-wrap:normal; overflow-wrap:break-word; word-break: break-all;" valign="baseline"> <a href="DiseaseDisplayForward?diseaseId=964">Young adult-onset Parkinsonism</a> </td> <td class="info" > </td> <td class="info" > 2 </td> <td class="info" > 0 </td> </tr> <tr> <td colspan="3"> </td> </tr> </tbody> </table> </div> </div> </div> </div> <!-- ==================== GRID 16 END ==================== --> </div> <script> // Popup Window var scrollTop = ''; var newHeight = '100'; /* $(window).bind('scroll', function() { scrollTop = $( window ).scrollTop(); newHeight = scrollTop + 100; }); */ $('.popup-trigger').click(function(e) { e.stopPropagation(); if(jQuery(window).width() < 767) { $(this).after( $(this).nextAll('.popup:first') ); $(this).nextAll('.popup:first').show().addClass('popup-mobile').css('top', 0); $('html, body').animate({ scrollTop: $(this).nextAll('.popup:first').offset().top }, 500); } else { $('.popup').hide(); $(this).nextAll('.popup:first').removeClass('popup-mobile').css('top', newHeight).toggle(); }; }); $('html').click(function() { $('.popup').hide(); }); $('.popup-btn-close').click(function(e){ $(this).parent().hide(); }); $('.popup').click(function(e){ e.stopPropagation(); }); </script> <!-- ==================== CONTENT END ============================================ --> <!-- ====== Script to handle return to top ====== --> <script>$(window).scroll(function() { if ($(this).scrollTop() >= 50) { // If page is scrolled more than 50px $('#return-to-top').fadeIn(200); // Fade in the arrow } else { $('#return-to-top').fadeOut(200); // Else fade out the arrow } }); $('#return-to-top').click(function() { // When arrow is clicked $('body,html').animate({ scrollTop : 0 // Scroll to top of body }, 500); });</script> <script> // When the user scrolls down 20px from the top of the document, slide down the navbar window.onscroll = function() {scrollFunction()}; function scrollFunction() { if (document.body.scrollTop > 150 || document.documentElement.scrollTop > 150) { document.getElementById("dropbar").style.top = "0"; } else { document.getElementById("dropbar").style.top = "-66px"; } } </script> <!-- ============== FOOTER START ========================================================--> <div class="clear"></div> <div id="footer"> <div> <div style="display:table-cell; vertical-align:middle; width:250px; float:left; display:inline;"> <p style="text-align:left;margin: 5px 0px 0px 10px;"><a href="/revealEmail.jsp" onclick="window.open('/revealEmail.jsp', '', 'toolbar=0,scrollbars=0,location=0,statusbar=0,menubar=0,resizable=0,width=550,height=300'); return false;" title="Reveal this e-mail address">Contact us</a></p> <p style="text-align:left;margin: 5px 0px 5px 10px;"> <span class="invisible_link"><a href="https://twitter.com/#!/GuidetoPHARM" target="_blank" title="Follow us on Twitter"><img class="logo" style="vertical-align:middle;" src="/images/twitter.png" alt="Link to Guide to Pharmacology on Twitter"/></a><a href="https://www.facebook.com/pages/Guide-to-PHARMACOLOGY/231393780304076" target="_blank" title="Like us on Facebook"><img class="logo" style="vertical-align:middle;margin-left:5px;" src="/images/facebook.png" alt="Link to Guide to Pharmacology on Facebook"/></a><a href="http://www.linkedin.com/company/guide-to-pharmacology" target="_blank" title="Follow us on LinkedIn"><img class="logo" style="vertical-align:middle;margin-left:5px;" src="/images/LinkedIn.png" alt="Link to Guide to Pharmacology on LinkedIn"/></a><a href="http://blog.guidetopharmacology.org/" target="_blank" title="Visit our blog"><img class="logo" style="vertical-align:middle;margin-left:5px;" src="/images/wpmini-blue.png" alt="Wordpress Logo link to Guide to Pharmacology blog"/></a><a href="http://www.slideshare.net/GuidetoPHARM" target="_blank" title="View slide sets and posters on SlideShare"><img class="logo" style="vertical-align:middle;margin-left:5px;" src="/images/slideshare_no_name.png" alt="Link to Guide to Pharmacology on Slideshare"/></a></span></p> <p style="text-align:left;margin: 8px 0px 0px 10px;"><small><a href="/privacyPolicy.jsp">Privacy and Cookie Policy</a></small></p> </div> <div style="vertical-align:middle; display:table-cell; float:left; display:inline;"> <p style="margin: 10px 30px 0px 0px;"><a href="https://globalbiodata.org/what-we-do/global-core-biodata-resources/" target="_blank" title="GCBR Global Core Biodata Resource"><img class="logo" style="vertical-align:middle; width:140px;" src="/images/GCBR-Logo.jpg" alt="Link to GCBR"/></a></p> </div> <div style="vertical-align:middle; display:table-cell; float:left; display:inline;"> <p style="margin: 5px 10px 0px 10px;"><a href="https://elixiruknode.org/" target="_blank" title="Elixir UK Resource"><img class="logo" style="vertical-align:middle; width:70px;" src="/images/ELIXIR-UK_Logo.png" alt="Link to Elixir-UK"/></a></p> </div> <div style="vertical-align:middle; display:table-cell; float:right; display:inline; width:340px;"> <p style="text-align:right; margin: 5px 10px 0px 0px; font-weight:bold; font-size:12pt;"><a href="/sponsors.jsp">Sponsors list</a></p> <p style="text-align:right; margin: 5px 10px 0px 0px; "><a rel="license" href="http://creativecommons.org/licenses/by-sa/4.0/"><img alt="Creative Commons Licence" style="border-width:0; float: left;" src="https://i.creativecommons.org/l/by-sa/4.0/88x31.png" /></a><small>This work is licensed under a <a rel="license" href="http://creativecommons.org/licenses/by-sa/4.0/">Creative Commons Attribution-ShareAlike 4.0 International License</a></small></p> </div> </div> </div> <!-- ============== FOOTER END ======================================================== --> </div> </div> </body> </html>