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<!--
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UID=354119
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ConceptID=C1709838
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Rare Non-Neoplastic Disorder</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354119</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1709838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet_content ln">A non-neoplastic disorder that is uncommon. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Rare Non-Neoplastic Disorder</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/311052" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder">Non-Neoplastic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/317955" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder by Special Category">Non-Neoplastic Disorder by Special Category</a></span><ul><li><span class="matched_ds">Rare Non-Neoplastic Disorder</span><ul><li><span class="TLline"><a href="/medgen/162878" ref="tree=MeSH" title="MedGen record for 11q partial monosomy syndrome">11q partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/397359" ref="tree=MeSH" title="MedGen record for 17q21 Microdeletion Syndrome">17q21 Microdeletion Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/397089" ref="tree=MeSH" title="MedGen record for 22q Telomere Deletion Syndrome">22q Telomere Deletion Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75667" ref="tree=MeSH" title="MedGen record for 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency">3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/82824" ref="tree=MeSH" title="MedGen record for 5,10-Methylenetetrahydrofolate reductase deficiency">5,10-Methylenetetrahydrofolate reductase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1253" ref="tree=MeSH" title="MedGen record for Abetalipoproteinaemia">Abetalipoproteinaemia</a></span></li><li><span class="TLline"><a href="/medgen/75679" ref="tree=MeSH" title="MedGen record for Acatalasia">Acatalasia</a></span></li><li><span class="TLline"><a href="/medgen/272277" ref="tree=MeSH" title="MedGen record for Achard syndrome">Achard syndrome</a></span></li><li><span class="TLline"><a href="/medgen/99176" ref="tree=MeSH" title="MedGen record for Achenbach syndrome">Achenbach syndrome</a></span></li><li><span class="TLline"><a href="/medgen/84" ref="tree=MeSH" title="MedGen record for Achondrogenesis">Achondrogenesis</a></span><ul><li><span class="TLline"><a href="/medgen/66315" ref="tree=MeSH" title="MedGen record for Achondrogenesis type II">Achondrogenesis type II</a></span></li><li><span class="TLline"><a 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autism spectrum disorder">ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder</a></span></li><li><span class="TLline"><a href="/medgen/174" ref="tree=MeSH" title="MedGen record for Agnosia">Agnosia</a></span><ul><li><span class="TLline"><a href="/medgen/42208" ref="tree=MeSH" title="MedGen record for Gerstmann syndrome">Gerstmann syndrome</a></span></li><li><span class="TLline"><a href="/medgen/65884" ref="tree=MeSH" title="MedGen record for Prosopagnosia">Prosopagnosia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/61236" ref="tree=MeSH" title="MedGen record for Aicardi syndrome">Aicardi syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1381" ref="tree=MeSH" title="MedGen record for Ainhum">Ainhum</a></span></li><li><span class="TLline"><a href="/medgen/182" ref="tree=MeSH" title="MedGen record for Albinism">Albinism</a></span><ul><li><span class="TLline"><a href="/medgen/3347" ref="tree=MeSH" title="MedGen record for Chédiak-Higashi syndrome">Chédiak-Higashi syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/193" ref="tree=MeSH" title="MedGen record for Aleutian disease">Aleutian disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/38147" ref="tree=MeSH" title="MedGen record for Ocular albinism">Ocular albinism</a></span><ul><li><span class="TLline"><a href="/medgen/337149" ref="tree=MeSH" title="MedGen record for Ocular albinism with late-onset sensorineural deafness">Ocular albinism with late-onset sensorineural deafness</a></span></li><li><span class="TLline"><a href="/medgen/90991" ref="tree=MeSH" title="MedGen record for Ocular albinism, type I">Ocular albinism, type I</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/36250" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism">Oculocutaneous albinism</a></span><ul><li><span class="TLline"><a href="/medgen/36313" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome">Hermansky-Pudlak syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82809" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism type 1">Oculocutaneous albinism type 1</a></span></li><li><span class="TLline"><a href="/medgen/87450" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism type 3">Oculocutaneous albinism type 3</a></span></li><li><span class="TLline"><a href="/medgen/338324" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism type 4">Oculocutaneous albinism type 4</a></span></li><li><span class="TLline"><a href="/medgen/854888" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism type 5">Oculocutaneous albinism type 5</a></span></li><li><span class="TLline"><a href="/medgen/811705" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism type 6">Oculocutaneous albinism type 6</a></span></li><li><span class="TLline"><a href="/medgen/815116" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism type 7">Oculocutaneous albinism type 7</a></span></li><li><span class="TLline"><a href="/medgen/1754121" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism type 8">Oculocutaneous albinism type 8</a></span></li><li><span class="TLline"><a href="/medgen/1643910" ref="tree=MeSH" title="MedGen record for Tyrosinase-negative oculocutaneous albinism">Tyrosinase-negative oculocutaneous albinism</a></span></li><li><span class="TLline"><a href="/medgen/82810" ref="tree=MeSH" title="MedGen record for Tyrosinase-positive oculocutaneous albinism">Tyrosinase-positive oculocutaneous albinism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/36361" ref="tree=MeSH" title="MedGen record for Piebaldism">Piebaldism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1413" ref="tree=MeSH" title="MedGen record for Alkaptonuria">Alkaptonuria</a></span></li><li><span class="TLline"><a href="/medgen/208645" ref="tree=MeSH" title="MedGen record for Allan-Herndon-Dudley syndrome">Allan-Herndon-Dudley syndrome</a></span></li><li><span class="TLline"><a href="/medgen/337145" ref="tree=MeSH" title="MedGen record for Alpha thalassemia-X-linked intellectual disability syndrome">Alpha thalassemia-X-linked intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/482058" ref="tree=MeSH" title="MedGen record for Alpha-methylacyl-CoA racemase deficiency">Alpha-methylacyl-CoA racemase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/78675" ref="tree=MeSH" title="MedGen record for Alstrom syndrome">Alstrom syndrome</a></span></li><li><span class="TLline"><a href="/medgen/57702" ref="tree=MeSH" title="MedGen record for Amaurosis fugax">Amaurosis fugax</a></span></li><li><span class="TLline"><a href="/medgen/164210" ref="tree=MeSH" title="MedGen record for Analbuminemia">Analbuminemia</a></span></li><li><span class="TLline"><a href="/medgen/98312" ref="tree=MeSH" title="MedGen record for Anaphylotoxin inactivator deficiency">Anaphylotoxin inactivator deficiency</a></span></li><li><span class="TLline"><a href="/medgen/327586" ref="tree=MeSH" title="MedGen record for Andersen Tawil syndrome">Andersen Tawil syndrome</a></span></li><li><span class="TLline"><a href="/medgen/8068" ref="tree=MeSH" title="MedGen record for Anencephaly">Anencephaly</a></span><ul><li><span class="TLline"><a href="/medgen/6937" ref="tree=MeSH" title="MedGen record for Hydranencephaly">Hydranencephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/9646" ref="tree=MeSH" title="MedGen record for Angioosteohypertrophic syndrome">Angioosteohypertrophic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1648501" ref="tree=MeSH" title="MedGen record for Capillary malformation-arteriovenous malformation 1">Capillary malformation-arteriovenous malformation 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/98032" ref="tree=MeSH" title="MedGen record for Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome">Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/400148" ref="tree=MeSH" title="MedGen record for Ankyloblepharon filiforme adnatum-cleft palate syndrome">Ankyloblepharon filiforme adnatum-cleft palate syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1666000" ref="tree=MeSH" title="MedGen record for Ankyloblepharon filiforme-imperforate anus syndrome">Ankyloblepharon filiforme-imperforate anus syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/140788" ref="tree=MeSH" title="MedGen record for Anti-glomerular basement membrane disease">Anti-glomerular basement membrane disease</a></span></li><li><span class="TLline"><a href="/medgen/461449" ref="tree=MeSH" title="MedGen record for Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis">Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis</a></span></li><li><span class="TLline"><a href="/medgen/140908" ref="tree=MeSH" title="MedGen record for Aprosencephaly">Aprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/78688" ref="tree=MeSH" title="MedGen record for Arginase deficiency">Arginase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/78687" ref="tree=MeSH" title="MedGen record for Argininosuccinate lyase deficiency">Argininosuccinate lyase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/87618" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular cardiomyopathy">Arrhythmogenic right ventricular cardiomyopathy</a></span><ul><li><span class="TLline"><a href="/medgen/349530" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 1">Arrhythmogenic right ventricular dysplasia 1</a></span></li><li><span class="TLline"><a href="/medgen/318748" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 2">Arrhythmogenic right ventricular dysplasia 2</a></span></li><li><span class="TLline"><a href="/medgen/356108" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 3">Arrhythmogenic right ventricular dysplasia 3</a></span></li><li><span class="TLline"><a href="/medgen/356107" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 4">Arrhythmogenic right ventricular dysplasia 4</a></span></li><li><span class="TLline"><a href="/medgen/346805" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 5">Arrhythmogenic right ventricular dysplasia 5</a></span></li><li><span class="TLline"><a href="/medgen/346892" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 6">Arrhythmogenic right ventricular dysplasia 6</a></span></li><li><span class="TLline"><a href="/medgen/336069" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 8">Arrhythmogenic right ventricular dysplasia 8</a></span></li><li><span class="TLline"><a href="/medgen/373205" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 9">Arrhythmogenic right ventricular dysplasia 9</a></span></li><li><span class="TLline"><a href="/medgen/347543" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 10">Arrhythmogenic right ventricular dysplasia 10</a></span></li><li><span class="TLline"><a href="/medgen/351237" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 11">Arrhythmogenic right ventricular dysplasia 11</a></span></li><li><span class="TLline"><a href="/medgen/409749" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 12">Arrhythmogenic right ventricular dysplasia 12</a></span></li><li><span class="TLline"><a href="/medgen/816468" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 13">Arrhythmogenic right ventricular dysplasia 13</a></span></li><li><span class="TLline"><a href="/medgen/373153" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia, familial, 7">Arrhythmogenic right ventricular dysplasia, familial, 7</a></span></li><li><span class="TLline"><a href="/medgen/901869" ref="tree=MeSH" title="MedGen record for Familial isolated arrhythmogenic right ventricular dysplasia">Familial isolated arrhythmogenic right ventricular dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/1864265" ref="tree=MeSH" title="MedGen record for Familial isolated arrhythmogenic ventricular dysplasia, biventricular form">Familial isolated arrhythmogenic ventricular dysplasia, biventricular form</a></span></li><li><span class="TLline"><a href="/medgen/1863454" ref="tree=MeSH" title="MedGen record for Familial isolated arrhythmogenic ventricular dysplasia, left dominant form">Familial isolated arrhythmogenic ventricular dysplasia, left dominant form</a></span></li><li><span class="TLline"><a href="/medgen/1864032" ref="tree=MeSH" title="MedGen record for Familial isolated arrhythmogenic ventricular dysplasia, right dominant form">Familial isolated arrhythmogenic ventricular dysplasia, right dominant form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/321991" ref="tree=MeSH" title="MedGen record for Naxos disease">Naxos disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1631685" ref="tree=MeSH" title="MedGen record for Arterial calcification, generalized, of infancy, 1">Arterial calcification, generalized, of infancy, 1</a></span></li><li><span class="TLline"><a href="/medgen/2455" ref="tree=MeSH" title="MedGen record for Arthrogryposis">Arthrogryposis</a></span><ul><li><span class="TLline"><a href="/medgen/67391" ref="tree=MeSH" title="MedGen record for Congenital contractural arachnodactyly">Congenital contractural arachnodactyly</a></span></li><li><span class="TLline"><a href="/medgen/120516" ref="tree=MeSH" title="MedGen record for Freeman-Sheldon syndrome">Freeman-Sheldon syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/861227" ref="tree=MeSH" title="MedGen record for Ataxia-telangiectasia-like disorder 1">Ataxia-telangiectasia-like disorder 1</a></span></li><li><span class="TLline"><a href="/medgen/105489" ref="tree=MeSH" title="MedGen record for Atransferrinemia">Atransferrinemia</a></span></li><li><span class="TLline"><a href="/medgen/75615" ref="tree=MeSH" title="MedGen record for Atrophia bulborum hereditaria">Atrophia bulborum hereditaria</a></span></li><li><span class="TLline"><a href="/medgen/156267" ref="tree=MeSH" title="MedGen record for Atrophic muscular disease">Atrophic muscular disease</a></span><ul><li><span class="TLline"><a href="/medgen/44527" ref="tree=MeSH" title="MedGen record for Muscular dystrophy">Muscular dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/339580" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2I">Autosomal recessive limb-girdle muscular dystrophy type 2I</a></span></li><li><span class="TLline"><a href="/medgen/332193" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2K">Autosomal recessive limb-girdle muscular dystrophy type 2K</a></span></li><li><span class="TLline"><a href="/medgen/182959" ref="tree=MeSH" title="MedGen record for Becker muscular dystrophy">Becker muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/413043" ref="tree=MeSH" title="MedGen record for Congenital muscular dystrophy due to LMNA mutation">Congenital muscular dystrophy due to LMNA mutation</a></span></li><li><span class="TLline"><a href="/medgen/155541" ref="tree=MeSH" title="MedGen record for Distal myopathy">Distal myopathy</a></span></li><li><span class="TLline"><a href="/medgen/3925" ref="tree=MeSH" title="MedGen record for Duchenne muscular dystrophy">Duchenne muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/98047" ref="tree=MeSH" title="MedGen record for Eichsfeld type congenital muscular dystrophy">Eichsfeld type congenital muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/96078" ref="tree=MeSH" title="MedGen record for Emery-Dreifuss muscular dystrophy">Emery-Dreifuss muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/65956" ref="tree=MeSH" title="MedGen record for Facioscapulohumeral muscular dystrophy">Facioscapulohumeral muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/5342" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type VII">Glycogen storage disease, type VII</a></span></li><li><span class="TLline"><a href="/medgen/151940" ref="tree=MeSH" title="MedGen record for Limb-girdle muscular dystrophy">Limb-girdle muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/224728" ref="tree=MeSH" title="MedGen record for Merosin deficient congenital muscular dystrophy">Merosin deficient congenital muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1640757" ref="tree=MeSH" title="MedGen record for Miyoshi muscular dystrophy 1">Miyoshi muscular dystrophy 1</a></span></li><li><span class="TLline"><a href="/medgen/1715069" ref="tree=MeSH" title="MedGen record for Muscular Dystrophy Secondary to Mitochondrial Disorder">Muscular Dystrophy Secondary to Mitochondrial Disorder</a></span></li><li><span class="TLline"><a href="/medgen/1711158" ref="tree=MeSH" title="MedGen record for Muscular Dystrophy Secondary to Oxidative Phosphorylation Disorder">Muscular Dystrophy Secondary to Oxidative Phosphorylation Disorder</a></span></li><li><span class="TLline"><a href="/medgen/140820" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4</a></span></li><li><span class="TLline"><a href="/medgen/924974" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1</a></span></li><li><span class="TLline"><a href="/medgen/461761" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2</a></span></li><li><span class="TLline"><a href="/medgen/462869" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3</a></span></li><li><span class="TLline"><a href="/medgen/461764" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6</a></span></li><li><span class="TLline"><a href="/medgen/461766" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2">Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2</a></span></li><li><span class="TLline"><a href="/medgen/10239" ref="tree=MeSH" title="MedGen record for Myotonic dystrophy">Myotonic dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/75730" ref="tree=MeSH" title="MedGen record for Oculopharyngeal muscular dystrophy">Oculopharyngeal muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/98373" ref="tree=MeSH" title="MedGen record for Scapulohumeral muscular dystrophy">Scapulohumeral muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/98046" ref="tree=MeSH" title="MedGen record for Ullrich congenital muscular dystrophy 1A">Ullrich congenital muscular dystrophy 1A</a></span></li><li><span class="TLline"><a href="/medgen/75553" ref="tree=MeSH" title="MedGen record for Walker-Warburg congenital muscular dystrophy">Walker-Warburg congenital muscular dystrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/36363" ref="tree=MeSH" title="MedGen record for Post poliomyelitis syndrome">Post poliomyelitis syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2129" ref="tree=MeSH" title="MedGen record for Auditory processing disorder">Auditory processing disorder</a></span><ul><li><span class="TLline"><a href="/medgen/20497" ref="tree=MeSH" title="MedGen record for Hyperacusis">Hyperacusis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/39042" ref="tree=MeSH" title="MedGen record for Autoimmune polyendocrinopathy">Autoimmune polyendocrinopathy</a></span><ul><li><span class="TLline"><a href="/medgen/453060" ref="tree=MeSH" title="MedGen record for Autoimmune polyendocrinopathy type 3">Autoimmune polyendocrinopathy type 3</a></span></li><li><span class="TLline"><a href="/medgen/757804" ref="tree=MeSH" title="MedGen record for Autoimmune polyendocrinopathy type 4">Autoimmune polyendocrinopathy type 4</a></span></li><li><span class="TLline"><a href="/medgen/39125" ref="tree=MeSH" title="MedGen record for Polyglandular autoimmune syndrome, type 1">Polyglandular autoimmune syndrome, type 1</a></span></li><li><span class="TLline"><a href="/medgen/39126" ref="tree=MeSH" title="MedGen record for Polyglandular autoimmune syndrome, type 2">Polyglandular autoimmune syndrome, type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/382676" ref="tree=MeSH" title="MedGen record for Autosomal dominant deafness - onychodystrophy syndrome">Autosomal dominant deafness - onychodystrophy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/325000" ref="tree=MeSH" title="MedGen record for Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis">Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/382128" ref="tree=MeSH" title="MedGen record for Autosomal recessive DOPA responsive dystonia">Autosomal recessive DOPA responsive dystonia</a></span></li><li><span class="TLline"><a href="/medgen/96067" ref="tree=MeSH" title="MedGen record for Autosomal recessive hypohidrotic ectodermal dysplasia syndrome">Autosomal recessive hypohidrotic ectodermal dysplasia syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/854356" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive">Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/761671" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive">Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/1680605" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia 15, hypohidrotic/hair type">Ectodermal dysplasia 15, hypohidrotic/hair type</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/761234" ref="tree=MeSH" title="MedGen record for Autosomal recessive nonsyndromic hearing loss 4">Autosomal recessive nonsyndromic hearing loss 4</a></span></li><li><span class="TLline"><a href="/medgen/342839" ref="tree=MeSH" title="MedGen record for Autosomal recessive nonsyndromic hearing loss 28">Autosomal recessive nonsyndromic hearing loss 28</a></span></li><li><span class="TLline"><a href="/medgen/374909" ref="tree=MeSH" title="MedGen record for Autosomal recessive nonsyndromic hearing loss 39">Autosomal recessive nonsyndromic hearing loss 39</a></span></li><li><span class="TLline"><a href="/medgen/346670" ref="tree=MeSH" title="MedGen record for Autosomal recessive nonsyndromic hearing loss 49">Autosomal recessive nonsyndromic hearing loss 49</a></span></li><li><span class="TLline"><a href="/medgen/811487" ref="tree=MeSH" title="MedGen record for Axenfeld-Rieger syndrome type 1">Axenfeld-Rieger syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/9841" ref="tree=MeSH" title="MedGen record for Azorean disease">Azorean disease</a></span><ul><li><span class="TLline"><a href="/medgen/155610" ref="tree=MeSH" title="MedGen record for Machado-Joseph disease type 1">Machado-Joseph disease type 1</a></span></li><li><span class="TLline"><a href="/medgen/199707" ref="tree=MeSH" title="MedGen record for Machado-Joseph disease type 2">Machado-Joseph disease type 2</a></span></li><li><span class="TLline"><a href="/medgen/155611" ref="tree=MeSH" title="MedGen record for Machado-Joseph disease type 3">Machado-Joseph disease type 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2172" ref="tree=MeSH" title="MedGen record for Bartter syndrome">Bartter syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/893350" ref="tree=MeSH" title="MedGen record for Antenatal Bartter syndrome">Antenatal Bartter syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/355727" ref="tree=MeSH" title="MedGen record for Bartter disease type 1">Bartter disease type 1</a></span></li><li><span class="TLline"><a href="/medgen/343428" ref="tree=MeSH" title="MedGen record for Bartter disease type 2">Bartter disease type 2</a></span></li><li><span class="TLline"><a href="/medgen/934787" ref="tree=MeSH" title="MedGen record for Bartter disease type 5">Bartter disease type 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/335399" ref="tree=MeSH" title="MedGen record for Bartter disease type 3">Bartter disease type 3</a></span></li><li><span class="TLline"><a href="/medgen/355430" ref="tree=MeSH" title="MedGen record for Bartter disease type 4A">Bartter disease type 4A</a></span></li><li><span class="TLline"><a href="/medgen/934772" ref="tree=MeSH" title="MedGen record for Bartter disease type 4B">Bartter disease type 4B</a></span></li><li><span class="TLline"><a href="/medgen/824706" ref="tree=MeSH" title="MedGen record for Bartter syndrome type 4">Bartter syndrome type 4</a></span></li><li><span class="TLline"><a href="/medgen/811594" ref="tree=MeSH" title="MedGen record for Bartter syndrome with hypocalcemia">Bartter syndrome with hypocalcemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/108185" ref="tree=MeSH" title="MedGen record for Beaded hair">Beaded hair</a></span></li><li><span class="TLline"><a href="/medgen/377668" ref="tree=MeSH" title="MedGen record for Beare-Stevenson cutis gyrata syndrome">Beare-Stevenson cutis gyrata syndrome</a></span></li><li><span class="TLline"><a href="/medgen/18732" ref="tree=MeSH" title="MedGen record for Benign intracranial hypertension">Benign intracranial hypertension</a></span></li><li><span class="TLline"><a href="/medgen/10619" ref="tree=MeSH" title="MedGen record for Benign mucous membrane pemphigoid">Benign mucous membrane pemphigoid</a></span><ul><li><span class="TLline"><a href="/medgen/266181" ref="tree=MeSH" title="MedGen record for Ocular cicatricial pemphigoid">Ocular cicatricial pemphigoid</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2212" ref="tree=MeSH" title="MedGen record for Bernard Soulier syndrome">Bernard Soulier syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/344735" ref="tree=MeSH" title="MedGen record for Bernard-Soulier syndrome type C">Bernard-Soulier syndrome type C</a></span></li><li><span class="TLline"><a href="/medgen/479778" ref="tree=MeSH" title="MedGen record for Bernard-Soulier syndrome, type A1">Bernard-Soulier syndrome, type A1</a></span></li><li><span class="TLline"><a href="/medgen/942003" ref="tree=MeSH" title="MedGen record for Bernard-Soulier syndrome, type A1 (recessive)">Bernard-Soulier syndrome, type A1 (recessive)</a></span></li><li><span class="TLline"><a href="/medgen/341556" ref="tree=MeSH" title="MedGen record for Bernard-Soulier syndrome, type B">Bernard-Soulier syndrome, type B</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/417702" ref="tree=MeSH" title="MedGen record for Beta-Methylcrotonylglycinuria">Beta-Methylcrotonylglycinuria</a></span></li><li><span class="TLline"><a href="/medgen/137982" ref="tree=MeSH" title="MedGen record for Bifunctional peroxisomal enzyme deficiency">Bifunctional peroxisomal enzyme deficiency</a></span></li><li><span class="TLline"><a href="/medgen/44018" ref="tree=MeSH" title="MedGen record for Bilirubin encephalopathy">Bilirubin encephalopathy</a></span><ul><li><span class="TLline"><a href="/medgen/1808922" ref="tree=MeSH" title="MedGen record for Acute bilirubin encephalopathy">Acute bilirubin encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/1806573" ref="tree=MeSH" title="MedGen record for Chronic bilirubin encephalopathy">Chronic bilirubin encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/542597" ref="tree=MeSH" title="MedGen record for Kernicterus due to isoimmunization">Kernicterus due to isoimmunization</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66323" ref="tree=MeSH" title="MedGen record for Biotinidase deficiency">Biotinidase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/78557" ref="tree=MeSH" title="MedGen record for Borjeson-Forssman-Lehmann syndrome">Borjeson-Forssman-Lehmann syndrome</a></span></li><li><span class="TLline"><a href="/medgen/69225" ref="tree=MeSH" title="MedGen record for Brown-Séquard syndrome">Brown-Séquard syndrome</a></span></li><li><span class="TLline"><a href="/medgen/2404" ref="tree=MeSH" title="MedGen record for Calciphylaxis">Calciphylaxis</a></span><ul><li><span class="TLline"><a href="/medgen/900547" ref="tree=MeSH" title="MedGen record for Calciphylaxis cutis">Calciphylaxis cutis</a></span></li><li><span class="TLline"><a href="/medgen/1664968" ref="tree=MeSH" title="MedGen record for Visceral calciphylaxis">Visceral calciphylaxis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/354620" ref="tree=MeSH" title="MedGen record for Camptomelic dysplasia">Camptomelic dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/396251" ref="tree=MeSH" title="MedGen record for Acampomelic campomelic dysplasia">Acampomelic campomelic dysplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10366" ref="tree=MeSH" title="MedGen record for Cancrum oris">Cancrum oris</a></span></li><li><span class="TLline"><a href="/medgen/864369" ref="tree=MeSH" title="MedGen record for Carbonic anhydrase I deficiency">Carbonic anhydrase I deficiency</a></span></li><li><span class="TLline"><a href="/medgen/266149" ref="tree=MeSH" title="MedGen record for Cardio-facio-cutaneous syndrome">Cardio-facio-cutaneous syndrome</a></span></li><li><span class="TLline"><a href="/medgen/91000" ref="tree=MeSH" title="MedGen record for Carnitine acylcarnitine translocase deficiency">Carnitine acylcarnitine translocase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/316820" ref="tree=MeSH" title="MedGen record for Carnitine palmitoyl transferase 1A deficiency">Carnitine palmitoyl transferase 1A deficiency</a></span></li><li><span class="TLline"><a href="/medgen/137978" ref="tree=MeSH" title="MedGen record for Carnitine palmitoyltransferase II deficiency">Carnitine palmitoyltransferase II deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/371584" ref="tree=MeSH" title="MedGen record for Carnitine palmitoyl transferase II deficiency, myopathic form">Carnitine palmitoyl transferase II deficiency, myopathic form</a></span></li><li><span class="TLline"><a href="/medgen/318896" ref="tree=MeSH" title="MedGen record for Carnitine palmitoyl transferase II deficiency, neonatal form">Carnitine palmitoyl transferase II deficiency, neonatal form</a></span></li><li><span class="TLline"><a href="/medgen/322211" ref="tree=MeSH" title="MedGen record for Carnitine palmitoyl transferase II deficiency, severe infantile form">Carnitine palmitoyl transferase II deficiency, severe infantile form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/501203" ref="tree=MeSH" title="MedGen record for Carnosinemia">Carnosinemia</a></span></li><li><span class="TLline"><a href="/medgen/57924" ref="tree=MeSH" title="MedGen record for Caroli disease">Caroli disease</a></span></li><li><span class="TLline"><a href="/medgen/120543" ref="tree=MeSH" title="MedGen record for Cat eye syndrome">Cat eye syndrome</a></span></li><li><span class="TLline"><a href="/medgen/2862" ref="tree=MeSH" title="MedGen record for Cataplexy">Cataplexy</a></span></li><li><span class="TLline"><a href="/medgen/199687" ref="tree=MeSH" title="MedGen record for Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy">Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy</a></span><ul><li><span class="TLline"><a href="/medgen/325051" ref="tree=MeSH" title="MedGen record for CARASIL syndrome">CARASIL syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1634330" ref="tree=MeSH" title="MedGen record for Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1">Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1</a></span></li><li><span class="TLline"><a href="/medgen/895965" ref="tree=MeSH" title="MedGen record for Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2">Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/137896" ref="tree=MeSH" title="MedGen record for Cerebral cysticercosis">Cerebral cysticercosis</a></span></li><li><span class="TLline"><a href="/medgen/344563" ref="tree=MeSH" title="MedGen record for Channelopathy-associated congenital insensitivity to pain, autosomal recessive">Channelopathy-associated congenital insensitivity to pain, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/75567" ref="tree=MeSH" title="MedGen record for CHARGE syndrome">CHARGE syndrome</a></span></li><li><span class="TLline"><a href="/medgen/2065" ref="tree=MeSH" title="MedGen record for Chiari malformation">Chiari malformation</a></span><ul><li><span class="TLline"><a href="/medgen/148202" ref="tree=MeSH" title="MedGen record for Chiari malformation type III">Chiari malformation type III</a></span></li><li><span class="TLline"><a href="/medgen/148203" ref="tree=MeSH" title="MedGen record for Chiari malformation type IV">Chiari malformation type IV</a></span></li><li><span class="TLline"><a href="/medgen/196689" ref="tree=MeSH" title="MedGen record for Chiari type I malformation">Chiari type I malformation</a></span></li><li><span class="TLline"><a href="/medgen/108222" ref="tree=MeSH" title="MedGen record for Chiari type II malformation">Chiari type II malformation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/886" ref="tree=MeSH" title="MedGen record for Chilblains">Chilblains</a></span></li><li><span class="TLline"><a href="/medgen/116041" ref="tree=MeSH" title="MedGen record for Cholestanol storage disease">Cholestanol storage disease</a></span></li><li><span class="TLline"><a href="/medgen/78658" ref="tree=MeSH" title="MedGen record for Cholestasis-edema syndrome, Norwegian type">Cholestasis-edema syndrome, Norwegian type</a></span></li><li><span class="TLline"><a href="/medgen/3052" ref="tree=MeSH" title="MedGen record for Chondrodysplasia punctata">Chondrodysplasia punctata</a></span><ul><li><span class="TLline"><a href="/medgen/224886" ref="tree=MeSH" title="MedGen record for Astley-Kendall dysplasia">Astley-Kendall dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/82697" ref="tree=MeSH" title="MedGen record for Child syndrome">Child syndrome</a></span></li><li><span class="TLline"><a href="/medgen/418969" ref="tree=MeSH" title="MedGen record for Greenberg dysplasia">Greenberg dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/383722" ref="tree=MeSH" title="MedGen record for Keutel syndrome">Keutel syndrome</a></span></li><li><span class="TLline"><a href="/medgen/79471" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata">Rhizomelic chondrodysplasia punctata</a></span><ul><li><span class="TLline"><a href="/medgen/347072" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata type 1">Rhizomelic chondrodysplasia punctata type 1</a></span></li><li><span class="TLline"><a href="/medgen/341734" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata type 2">Rhizomelic chondrodysplasia punctata type 2</a></span></li><li><span class="TLline"><a href="/medgen/374012" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata type 3">Rhizomelic chondrodysplasia punctata type 3</a></span></li><li><span class="TLline"><a href="/medgen/900333" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata type 5">Rhizomelic chondrodysplasia punctata type 5</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/3420" ref="tree=MeSH" title="MedGen record for Chorea">Chorea</a></span><ul><li><span class="TLline"><a href="/medgen/75545" ref="tree=MeSH" title="MedGen record for Chorea gravidarum">Chorea gravidarum</a></span></li><li><span class="TLline"><a href="/medgen/98277" ref="tree=MeSH" title="MedGen record for Chorea-acanthocytosis">Chorea-acanthocytosis</a></span></li><li><span class="TLline"><a href="/medgen/5654" ref="tree=MeSH" title="MedGen record for Huntington disease">Huntington disease</a></span><ul><li><span class="TLline"><a href="/medgen/155518" ref="tree=MeSH" title="MedGen record for Juvenile Huntington disease">Juvenile Huntington disease</a></span></li><li><span class="TLline"><a href="/medgen/224821" ref="tree=MeSH" title="MedGen record for Westphal disease">Westphal disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57506" ref="tree=MeSH" title="MedGen record for Sydenham chorea">Sydenham chorea</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/944" ref="tree=MeSH" title="MedGen record for Choroideremia">Choroideremia</a></span></li><li><span class="TLline"><a href="/medgen/334629" ref="tree=MeSH" title="MedGen record for Chromosome 1p36 deletion syndrome">Chromosome 1p36 deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419169" ref="tree=MeSH" title="MedGen record for Chromosome 2q37 deletion syndrome">Chromosome 2q37 deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/3486" ref="tree=MeSH" title="MedGen record for Cleidocranial dysostosis">Cleidocranial dysostosis</a></span></li><li><span class="TLline"><a href="/medgen/1617" ref="tree=MeSH" title="MedGen record for Coarctation of aorta">Coarctation of aorta</a></span><ul><li><span class="TLline"><a href="/medgen/758831" ref="tree=MeSH" title="MedGen record for Atypical coarctation of aorta">Atypical coarctation of aorta</a></span></li><li><span class="TLline"><a href="/medgen/443900" ref="tree=MeSH" title="MedGen record for Autosomal dominant coarctation of aorta">Autosomal dominant coarctation of aorta</a></span></li><li><span class="TLline"><a href="/medgen/1385566" ref="tree=MeSH" title="MedGen record for Coarctation in the transverse aortic arch">Coarctation in the transverse aortic arch</a></span></li><li><span class="TLline"><a href="/medgen/870806" ref="tree=MeSH" title="MedGen record for Coarctation of abdominal aorta">Coarctation of abdominal aorta</a></span></li><li><span class="TLline"><a href="/medgen/1378073" ref="tree=MeSH" title="MedGen record for Long segment coarctation of the aorta">Long segment coarctation of the aorta</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/333031" ref="tree=MeSH" title="MedGen record for CODAS syndrome">CODAS syndrome</a></span></li><li><span class="TLline"><a href="/medgen/334528" ref="tree=MeSH" title="MedGen record for Coenzyme Q10 deficiency">Coenzyme Q10 deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/395301" ref="tree=MeSH" title="MedGen record for Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia">Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia</a></span></li><li><span class="TLline"><a href="/medgen/436985" ref="tree=MeSH" title="MedGen record for Autosomal recessive ataxia due to ubiquinone deficiency">Autosomal recessive ataxia due to ubiquinone deficiency</a></span></li><li><span class="TLline"><a href="/medgen/766268" ref="tree=MeSH" title="MedGen record for Deafness-encephaloneuropathy-obesity-valvulopathy syndrome">Deafness-encephaloneuropathy-obesity-valvulopathy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/766288" ref="tree=MeSH" title="MedGen record for Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome">Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome</a></span></li><li><span class="TLline"><a href="/medgen/766263" ref="tree=MeSH" title="MedGen record for Familial steroid-resistant nephrotic syndrome with sensorineural deafness">Familial steroid-resistant nephrotic syndrome with sensorineural deafness</a></span></li><li><span class="TLline"><a href="/medgen/1678587" ref="tree=MeSH" title="MedGen record for Leigh syndrome with nephrotic syndrome">Leigh syndrome with nephrotic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1799985" ref="tree=MeSH" title="MedGen record for Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome">Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75556" ref="tree=MeSH" title="MedGen record for Coffin-Lowry syndrome">Coffin-Lowry syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1762238" ref="tree=MeSH" title="MedGen record for COFS syndrome">COFS syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/66320" ref="tree=MeSH" title="MedGen record for Cerebrooculofacioskeletal syndrome 1">Cerebrooculofacioskeletal syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/342798" ref="tree=MeSH" title="MedGen record for Cerebrooculofacioskeletal syndrome 4">Cerebrooculofacioskeletal syndrome 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/218910" ref="tree=MeSH" title="MedGen record for Cogan-Reese syndrome">Cogan-Reese syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75652" ref="tree=MeSH" title="MedGen record for Combined molybdoflavoprotein enzyme deficiency">Combined molybdoflavoprotein enzyme deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/381530" ref="tree=MeSH" title="MedGen record for Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A">Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A</a></span></li><li><span class="TLline"><a href="/medgen/340760" ref="tree=MeSH" title="MedGen record for Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B">Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B</a></span></li><li><span class="TLline"><a href="/medgen/340761" ref="tree=MeSH" title="MedGen record for Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C">Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/11159" ref="tree=MeSH" title="MedGen record for Complex regional pain syndrome type 1">Complex regional pain syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/2918" ref="tree=MeSH" title="MedGen record for Complex regional pain syndrome type 2">Complex regional pain syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/272171" ref="tree=MeSH" title="MedGen record for Congenital amegakaryocytic thrombocytopenia">Congenital amegakaryocytic thrombocytopenia</a></span><ul><li><span class="TLline"><a href="/medgen/1848998" ref="tree=MeSH" title="MedGen record for Amegakaryocytic thrombocytopenia, congenital, 2">Amegakaryocytic thrombocytopenia, congenital, 2</a></span></li><li><span class="TLline"><a href="/medgen/1845022" ref="tree=MeSH" title="MedGen record for Congenital amegakaryocytic thrombocytopenia 1">Congenital amegakaryocytic thrombocytopenia 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1941" ref="tree=MeSH" title="MedGen record for Congenital aniridia">Congenital aniridia</a></span><ul><li><span class="TLline"><a href="/medgen/64512" ref="tree=MeSH" title="MedGen record for 11p partial monosomy syndrome">11p partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/978406" ref="tree=MeSH" title="MedGen record for Isolated aniridia">Isolated aniridia</a></span><ul><li><span class="TLline"><a href="/medgen/576337" ref="tree=MeSH" title="MedGen record for Aniridia 1">Aniridia 1</a></span></li><li><span class="TLline"><a href="/medgen/138010" ref="tree=MeSH" title="MedGen record for Aniridia 2">Aniridia 2</a></span></li><li><span class="TLline"><a href="/medgen/934662" ref="tree=MeSH" title="MedGen record for Aniridia 3">Aniridia 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1843362" ref="tree=MeSH" title="MedGen record for Syndromic aniridia">Syndromic aniridia</a></span><ul><li><span class="TLline"><a href="/medgen/419752" ref="tree=MeSH" title="MedGen record for Aniridia - intellectual disability syndrome">Aniridia - intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/400149" ref="tree=MeSH" title="MedGen record for Aniridia-absent patella syndrome">Aniridia-absent patella syndrome</a></span></li><li><span class="TLline"><a href="/medgen/929405" ref="tree=MeSH" title="MedGen record for Aniridia-ptosis-intellectual disability-familial obesity syndrome">Aniridia-ptosis-intellectual disability-familial obesity syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347952" ref="tree=MeSH" title="MedGen record for Aniridia-renal agenesis-psychomotor retardation syndrome">Aniridia-renal agenesis-psychomotor retardation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/96563" ref="tree=MeSH" title="MedGen record for Gillespie syndrome">Gillespie syndrome</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/98021" ref="tree=MeSH" title="MedGen record for Congenital bilateral aplasia of vas deferens from CFTR mutation">Congenital bilateral aplasia of vas deferens from CFTR mutation</a></span></li><li><span class="TLline"><a href="/medgen/83348" ref="tree=MeSH" title="MedGen record for Congenital defect of folate absorption">Congenital defect of folate absorption</a></span></li><li><span class="TLline"><a href="/medgen/815321" ref="tree=MeSH" title="MedGen record for Congenital disorder of deglycosylation">Congenital disorder of deglycosylation</a></span><ul><li><span class="TLline"><a href="/medgen/989503" ref="tree=MeSH" title="MedGen record for Congenital disorder of deglycosylation 1">Congenital disorder of deglycosylation 1</a></span></li><li><span class="TLline"><a href="/medgen/1809253" ref="tree=MeSH" title="MedGen record for Congenital disorder of deglycosylation 2">Congenital disorder of deglycosylation 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/76469" ref="tree=MeSH" title="MedGen record for Congenital disorder of glycosylation">Congenital disorder of glycosylation</a></span><ul><li><span class="TLline"><a href="/medgen/419308" ref="tree=MeSH" title="MedGen record for ALG1-congenital disorder of glycosylation">ALG1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/462263" ref="tree=MeSH" title="MedGen record for ALG11-congenital disorder of glycosylation">ALG11-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/443954" ref="tree=MeSH" title="MedGen record for ALG12-congenital disorder of glycosylation">ALG12-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/334618" ref="tree=MeSH" title="MedGen record for ALG2-congenital disorder of glycosylation">ALG2-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/322026" ref="tree=MeSH" title="MedGen record for ALG3-congenital disorder of glycosylation">ALG3-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/443952" ref="tree=MeSH" title="MedGen record for ALG6-congenital disorder of glycosylation 1C">ALG6-congenital disorder of glycosylation 1C</a></span></li><li><span class="TLline"><a href="/medgen/419692" ref="tree=MeSH" title="MedGen record for ALG8 congenital disorder of glycosylation">ALG8 congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/443955" ref="tree=MeSH" title="MedGen record for ALG9 congenital disorder of glycosylation">ALG9 congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/419310" ref="tree=MeSH" title="MedGen record for B4GALT1-congenital disorder of glycosylation">B4GALT1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/443957" ref="tree=MeSH" title="MedGen record for COG1 congenital disorder of glycosylation">COG1 congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/929221" ref="tree=MeSH" title="MedGen record for COG4-congenital disorder of glycosylation">COG4-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/462226" ref="tree=MeSH" title="MedGen record for COG5-congenital disorder of glycosylation">COG5-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/766144" ref="tree=MeSH" title="MedGen record for COG6-congenital disorder of glycosylation">COG6-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/419311" ref="tree=MeSH" title="MedGen record for COG7 congenital disorder of glycosylation">COG7 congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/409971" ref="tree=MeSH" title="MedGen record for COG8-congenital disorder of glycosylation">COG8-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/324784" ref="tree=MeSH" title="MedGen record for Congenital disorder of glycosylation type 1E">Congenital disorder of glycosylation type 1E</a></span></li><li><span class="TLline"><a href="/medgen/1682844" ref="tree=MeSH" title="MedGen record for Congenital muscular dystrophy with intellectual disability and severe epilepsy">Congenital muscular dystrophy with intellectual disability and severe epilepsy</a></span></li><li><span class="TLline"><a href="/medgen/1382656" ref="tree=MeSH" title="MedGen record for Developmental and epileptic encephalopathy, 36">Developmental and epileptic encephalopathy, 36</a></span></li><li><span class="TLline"><a href="/medgen/332072" ref="tree=MeSH" title="MedGen record for DK1-congenital disorder of glycosylation">DK1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/419694" ref="tree=MeSH" title="MedGen record for DPAGT1-congenital disorder of glycosylation">DPAGT1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/414534" ref="tree=MeSH" title="MedGen record for DPM3-congenital disorder of glycosylation">DPM3-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/96022" ref="tree=MeSH" title="MedGen record for Leukocyte adhesion deficiency type II">Leukocyte adhesion deficiency type II</a></span></li><li><span class="TLline"><a href="/medgen/443956" ref="tree=MeSH" title="MedGen record for MGAT2-congenital disorder of glycosylation">MGAT2-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/342954" ref="tree=MeSH" title="MedGen record for MOGS-congenital disorder of glycosylation">MOGS-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/322968" ref="tree=MeSH" title="MedGen record for MPDU1-congenital disorder of glycosylation">MPDU1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/400692" ref="tree=MeSH" title="MedGen record for MPI-congenital disorder of glycosylation">MPI-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/414536" ref="tree=MeSH" title="MedGen record for PGM1-congenital disorder of glycosylation">PGM1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/138111" ref="tree=MeSH" title="MedGen record for PMM2-congenital disorder of glycosylation">PMM2-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/383145" ref="tree=MeSH" title="MedGen record for RFT1-congenital disorder of glycosylation">RFT1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/370234" ref="tree=MeSH" title="MedGen record for SLC35A1-congenital disorder of glycosylation">SLC35A1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/1392124" ref="tree=MeSH" title="MedGen record for SRD5A3-congenital disorder of glycosylation">SRD5A3-congenital disorder of glycosylation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8064" ref="tree=MeSH" title="MedGen record for Congenital dyserythropoietic anemia">Congenital dyserythropoietic anemia</a></span><ul><li><span class="TLline"><a href="/medgen/462276" ref="tree=MeSH" title="MedGen record for Congenital dyserythropoietic anemia type 4">Congenital dyserythropoietic anemia type 4</a></span></li><li><span class="TLline"><a href="/medgen/82891" ref="tree=MeSH" title="MedGen record for Congenital dyserythropoietic anemia, type I">Congenital dyserythropoietic anemia, type I</a></span><ul><li><span class="TLline"><a href="/medgen/1807106" ref="tree=MeSH" title="MedGen record for Anemia, congenital dyserythropoietic, type 1a">Anemia, congenital dyserythropoietic, type 1a</a></span></li><li><span class="TLline"><a href="/medgen/816515" ref="tree=MeSH" title="MedGen record for Congenital dyserythropoietic anemia type type 1B">Congenital dyserythropoietic anemia type type 1B</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/266296" ref="tree=MeSH" title="MedGen record for Congenital dyserythropoietic anemia, type II">Congenital dyserythropoietic anemia, type II</a></span></li><li><span class="TLline"><a href="/medgen/1801596" ref="tree=MeSH" title="MedGen record for Congenital dyserythropoietic anemia, type III">Congenital dyserythropoietic anemia, type III</a></span></li><li><span class="TLline"><a href="/medgen/928177" ref="tree=MeSH" title="MedGen record for Thrombocytopenia with congenital dyserythropoietic anemia">Thrombocytopenia with congenital dyserythropoietic anemia</a></span></li><li><span class="TLline"><a href="/medgen/763703" ref="tree=MeSH" title="MedGen record for Thrombocytopenia, X-linked, with or without dyserythropoietic anemia">Thrombocytopenia, X-linked, with or without dyserythropoietic anemia</a></span></li><li><span class="TLline"><a href="/medgen/763770" ref="tree=MeSH" title="MedGen record for X-linked dyserythropoetic anemia with abnormal platelets and neutropenia">X-linked dyserythropoetic anemia with abnormal platelets and neutropenia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/67438" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy">Congenital generalized lipodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/318592" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy type 1">Congenital generalized lipodystrophy type 1</a></span></li><li><span class="TLline"><a href="/medgen/318593" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy type 2">Congenital generalized lipodystrophy type 2</a></span></li><li><span class="TLline"><a href="/medgen/436541" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy type 3">Congenital generalized lipodystrophy type 3</a></span></li><li><span class="TLline"><a href="/medgen/412871" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy type 4">Congenital generalized lipodystrophy type 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/816301" ref="tree=MeSH" title="MedGen record for Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome">Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340597" ref="tree=MeSH" title="MedGen record for Congenital multicore myopathy with external ophthalmoplegia">Congenital multicore myopathy with external ophthalmoplegia</a></span><ul><li><span class="TLline"><a href="/medgen/871103" ref="tree=MeSH" title="MedGen record for Type 1 and type 2 muscle fiber minicore regions">Type 1 and type 2 muscle fiber minicore regions</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/155650" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndrome">Congenital myasthenic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/468519" ref="tree=MeSH" title="MedGen record for CHRNA1-Related Congenital Myasthenic Syndrome">CHRNA1-Related Congenital Myasthenic Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/419336" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndrome 1A">Congenital myasthenic syndrome 1A</a></span></li><li><span class="TLline"><a href="/medgen/909200" ref="tree=MeSH" title="MedGen record for Myasthenic syndrome, congenital, 1B, fast-channel">Myasthenic syndrome, congenital, 1B, fast-channel</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/400481" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndrome 5">Congenital myasthenic syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/376880" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndrome 10">Congenital myasthenic syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/902189" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndrome 11">Congenital myasthenic syndrome 11</a></span></li><li><span class="TLline"><a href="/medgen/765249" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndrome 12">Congenital myasthenic syndrome 12</a></span></li><li><span class="TLline"><a href="/medgen/481742" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndrome 16">Congenital myasthenic syndrome 16</a></span></li><li><span class="TLline"><a href="/medgen/373251" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndrome 4C">Congenital myasthenic syndrome 4C</a></span></li><li><span class="TLline"><a href="/medgen/1842196" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndromes with glycosylation defect">Congenital myasthenic syndromes with glycosylation defect</a></span></li><li><span class="TLline"><a href="/medgen/140751" ref="tree=MeSH" title="MedGen record for Familial infantile myasthenia">Familial infantile myasthenia</a></span></li><li><span class="TLline"><a href="/medgen/199759" ref="tree=MeSH" title="MedGen record for Myasthenic syndrome, slow-channel congenital">Myasthenic syndrome, slow-channel congenital</a></span></li><li><span class="TLline"><a href="/medgen/199758" ref="tree=MeSH" title="MedGen record for Postsynaptic congenital myasthenic syndrome">Postsynaptic congenital myasthenic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/155651" ref="tree=MeSH" title="MedGen record for Presynaptic congenital myasthenic syndrome">Presynaptic congenital myasthenic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1843272" ref="tree=MeSH" title="MedGen record for Synaptic congenital myasthenic syndromes">Synaptic congenital myasthenic syndromes</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/108177" ref="tree=MeSH" title="MedGen record for Congenital myopathy with fiber type disproportion">Congenital myopathy with fiber type disproportion</a></span></li><li><span class="TLline"><a href="/medgen/539398" ref="tree=MeSH" title="MedGen record for Congenital pseudoarthrosis of the tibia">Congenital pseudoarthrosis of the tibia</a></span></li><li><span class="TLline"><a href="/medgen/6916" ref="tree=MeSH" title="MedGen record for Congenital sensory neuropathy with selective loss of small myelinated fibers">Congenital sensory neuropathy with selective loss of small myelinated fibers</a></span></li><li><span class="TLline"><a href="/medgen/156050" ref="tree=MeSH" title="MedGen record for Congenital structural myopathy">Congenital structural myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/1645741" ref="tree=MeSH" title="MedGen record for Autosomal dominant centronuclear myopathy">Autosomal dominant centronuclear myopathy</a></span></li><li><span class="TLline"><a href="/medgen/199773" ref="tree=MeSH" title="MedGen record for Central core disease">Central core disease</a></span></li><li><span class="TLline"><a href="/medgen/56484" ref="tree=MeSH" title="MedGen record for Inborn mitochondrial myopathy">Inborn mitochondrial myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/107893" ref="tree=MeSH" title="MedGen record for 3-Methylglutaconic aciduria type 2">3-Methylglutaconic aciduria type 2</a></span></li><li><span class="TLline"><a href="/medgen/444140" ref="tree=MeSH" title="MedGen record for Adenosine monophosphate deaminase deficiency">Adenosine monophosphate deaminase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1393682" ref="tree=MeSH" title="MedGen record for Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy">Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy</a></span></li><li><span class="TLline"><a href="/medgen/863950" ref="tree=MeSH" title="MedGen record for Autosomal dominant mitochondrial myopathy with exercise intolerance">Autosomal dominant mitochondrial myopathy with exercise intolerance</a></span></li><li><span class="TLline"><a href="/medgen/416525" ref="tree=MeSH" title="MedGen record for Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome">Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome</a></span></li><li><span class="TLline"><a href="/medgen/9618" ref="tree=MeSH" title="MedGen record for Kearns-Sayre syndrome">Kearns-Sayre syndrome</a></span></li><li><span class="TLline"><a href="/medgen/374077" ref="tree=MeSH" title="MedGen record for Lethal infantile mitochondrial myopathy">Lethal infantile mitochondrial myopathy</a></span></li><li><span class="TLline"><a href="/medgen/1565381" ref="tree=MeSH" title="MedGen record for Maternally-inherited progressive external ophthalmoplegia">Maternally-inherited progressive external ophthalmoplegia</a></span></li><li><span class="TLline"><a href="/medgen/56485" ref="tree=MeSH" title="MedGen record for MELAS syndrome">MELAS syndrome</a></span></li><li><span class="TLline"><a href="/medgen/56486" ref="tree=MeSH" title="MedGen record for MERRF syndrome">MERRF syndrome</a></span></li><li><span class="TLline"><a href="/medgen/374101" ref="tree=MeSH" title="MedGen record for Mitochondrial complex I deficiency">Mitochondrial complex I deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1814582" ref="tree=MeSH" title="MedGen record for Mitochondrial complex II deficiency, nuclear type 1">Mitochondrial complex II deficiency, nuclear type 1</a></span></li><li><span class="TLline"><a href="/medgen/767513" ref="tree=MeSH" title="MedGen record for Mitochondrial DNA deletion syndrome with progressive myopathy">Mitochondrial DNA deletion syndrome with progressive myopathy</a></span></li><li><span class="TLline"><a href="/medgen/767376" ref="tree=MeSH" title="MedGen record for Mitochondrial DNA depletion syndrome 11">Mitochondrial DNA depletion syndrome 11</a></span></li><li><span class="TLline"><a href="/medgen/461100" ref="tree=MeSH" title="MedGen record for Mitochondrial DNA depletion syndrome, myopathic form">Mitochondrial DNA depletion syndrome, myopathic form</a></span></li><li><span class="TLline"><a href="/medgen/57960" ref="tree=MeSH" title="MedGen record for Mitochondrial encephalomyopathy">Mitochondrial encephalomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/1620960" ref="tree=MeSH" title="MedGen record for Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome">Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/343245" ref="tree=MeSH" title="MedGen record for Mitochondrial myopathy-lactic acidosis-deafness syndrome">Mitochondrial myopathy-lactic acidosis-deafness syndrome</a></span></li><li><span class="TLline"><a href="/medgen/167876" ref="tree=MeSH" title="MedGen record for Mitochondrial neurogastrointestinal encephalomyopathy">Mitochondrial neurogastrointestinal encephalomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/370665" ref="tree=MeSH" title="MedGen record for Mitochondrial trifunctional protein deficiency">Mitochondrial trifunctional protein deficiency</a></span></li><li><span class="TLline"><a href="/medgen/373888" ref="tree=MeSH" title="MedGen record for Myopathy, lactic acidosis, and sideroblastic anemia">Myopathy, lactic acidosis, and sideroblastic anemia</a></span></li><li><span class="TLline"><a href="/medgen/102439" ref="tree=MeSH" title="MedGen record for Progressive external ophthalmoplegia">Progressive external ophthalmoplegia</a></span></li><li><span class="TLline"><a href="/medgen/934700" ref="tree=MeSH" title="MedGen record for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4">Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4</a></span></li><li><span class="TLline"><a href="/medgen/375302" ref="tree=MeSH" title="MedGen record for Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis">Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/61528" ref="tree=MeSH" title="MedGen record for Nemaline myopathy">Nemaline myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/777997" ref="tree=MeSH" title="MedGen record for Actin accumulation myopathy">Actin accumulation myopathy</a></span></li><li><span class="TLline"><a href="/medgen/154264" ref="tree=MeSH" title="MedGen record for Adult-onset nemaline myopathy">Adult-onset nemaline myopathy</a></span></li><li><span class="TLline"><a href="/medgen/154265" ref="tree=MeSH" title="MedGen record for Childhood-onset nemaline myopathy">Childhood-onset nemaline myopathy</a></span></li><li><span class="TLline"><a href="/medgen/324513" ref="tree=MeSH" title="MedGen record for Congenital myopathy 23">Congenital myopathy 23</a></span></li><li><span class="TLline"><a href="/medgen/1840525" ref="tree=MeSH" title="MedGen record for Congenital myopathy 4B, autosomal recessive">Congenital myopathy 4B, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/1803914" ref="tree=MeSH" title="MedGen record for Intermediate nemaline myopathy">Intermediate nemaline myopathy</a></span></li><li><span class="TLline"><a href="/medgen/342534" ref="tree=MeSH" title="MedGen record for Nemaline myopathy 2">Nemaline myopathy 2</a></span></li><li><span class="TLline"><a href="/medgen/344273" ref="tree=MeSH" title="MedGen record for Nemaline myopathy 5">Nemaline myopathy 5</a></span></li><li><span class="TLline"><a href="/medgen/373095" ref="tree=MeSH" title="MedGen record for Nemaline myopathy 6">Nemaline myopathy 6</a></span></li><li><span class="TLline"><a href="/medgen/343979" ref="tree=MeSH" title="MedGen record for Nemaline myopathy 7">Nemaline myopathy 7</a></span></li><li><span class="TLline"><a href="/medgen/815539" ref="tree=MeSH" title="MedGen record for Nemaline myopathy 8">Nemaline myopathy 8</a></span></li><li><span class="TLline"><a href="/medgen/1805110" ref="tree=MeSH" title="MedGen record for Severe congenital nemaline myopathy">Severe congenital nemaline myopathy</a></span></li><li><span class="TLline"><a href="/medgen/1806265" ref="tree=MeSH" title="MedGen record for Typical nemaline myopathy">Typical nemaline myopathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/98374" ref="tree=MeSH" title="MedGen record for Severe X-linked myotubular myopathy">Severe X-linked myotubular myopathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/11871" ref="tree=MeSH" title="MedGen record for Congenital tracheobronchomegaly">Congenital tracheobronchomegaly</a></span></li><li><span class="TLline"><a href="/medgen/265" ref="tree=MeSH" title="MedGen record for Constriction ring syndrome">Constriction ring syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1639771" ref="tree=MeSH" title="MedGen record for Cortical Dysplasia-Focal Epilepsy Syndrome">Cortical Dysplasia-Focal Epilepsy Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/6035" ref="tree=MeSH" title="MedGen record for Coxa plana">Coxa plana</a></span></li><li><span class="TLline"><a href="/medgen/1641011" ref="tree=MeSH" title="MedGen record for Cranioectodermal dysplasia">Cranioectodermal dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/96586" ref="tree=MeSH" title="MedGen record for Cranioectodermal dysplasia 1">Cranioectodermal dysplasia 1</a></span></li><li><span class="TLline"><a href="/medgen/462224" ref="tree=MeSH" title="MedGen record for Cranioectodermal dysplasia 2">Cranioectodermal dysplasia 2</a></span></li><li><span class="TLline"><a href="/medgen/481437" ref="tree=MeSH" title="MedGen record for Cranioectodermal dysplasia 3">Cranioectodermal dysplasia 3</a></span></li><li><span class="TLline"><a href="/medgen/482246" ref="tree=MeSH" title="MedGen record for Cranioectodermal dysplasia 4">Cranioectodermal dysplasia 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75554" ref="tree=MeSH" title="MedGen record for Craniofacial microsomia">Craniofacial microsomia</a></span><ul><li><span class="TLline"><a href="/medgen/501171" ref="tree=MeSH" title="MedGen record for Craniofacial microsomia 1">Craniofacial microsomia 1</a></span></li><li><span class="TLline"><a href="/medgen/1830923" ref="tree=MeSH" title="MedGen record for Craniofacial microsomia 2">Craniofacial microsomia 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1163" ref="tree=MeSH" title="MedGen record for Craniosynostosis syndrome">Craniosynostosis syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/344694" ref="tree=MeSH" title="MedGen record for Coronal craniosynostosis">Coronal craniosynostosis</a></span><ul><li><span class="TLline"><a href="/medgen/866810" ref="tree=MeSH" title="MedGen record for Bicoronal synostosis">Bicoronal synostosis</a></span></li><li><span class="TLline"><a href="/medgen/892477" ref="tree=MeSH" title="MedGen record for Unicoronal synostosis">Unicoronal synostosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/346753" ref="tree=MeSH" title="MedGen record for Craniosynostosis 2">Craniosynostosis 2</a></span></li><li><span class="TLline"><a href="/medgen/322167" ref="tree=MeSH" title="MedGen record for Craniosynostosis 4">Craniosynostosis 4</a></span><ul><li><span class="TLline"><a href="/medgen/866809" ref="tree=MeSH" title="MedGen record for Bilambdoid synostosis">Bilambdoid synostosis</a></span></li><li><span class="TLline"><a href="/medgen/866808" ref="tree=MeSH" title="MedGen record for Unilambdoid synostosis">Unilambdoid synostosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866807" ref="tree=MeSH" title="MedGen record for Multiple suture craniosynostosis">Multiple suture craniosynostosis</a></span><ul><li><span class="TLline"><a href="/medgen/867450" ref="tree=MeSH" title="MedGen record for Pansynostosis">Pansynostosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/140921" ref="tree=MeSH" title="MedGen record for Sagittal craniosynostosis">Sagittal craniosynostosis</a></span></li><li><span class="TLline"><a href="/medgen/1863703" ref="tree=MeSH" title="MedGen record for Squamosal suture synostosis">Squamosal suture synostosis</a></span></li><li><span class="TLline"><a href="/medgen/811568" ref="tree=MeSH" title="MedGen record for TCF12-related craniosynostosis">TCF12-related craniosynostosis</a></span></li><li><span class="TLline"><a href="/medgen/1646646" ref="tree=MeSH" title="MedGen record for TWIST1-related craniosynostosis">TWIST1-related craniosynostosis</a></span><ul><li><span class="TLline"><a href="/medgen/1162" ref="tree=MeSH" title="MedGen record for Crouzon syndrome">Crouzon syndrome</a></span></li><li><span class="TLline"><a href="/medgen/394201" ref="tree=MeSH" title="MedGen record for Crouzon syndrome-acanthosis nigricans syndrome">Crouzon syndrome-acanthosis nigricans syndrome</a></span></li><li><span class="TLline"><a href="/medgen/431600" ref="tree=MeSH" title="MedGen record for Isolated Coronal Synostosis">Isolated Coronal Synostosis</a></span></li><li><span class="TLline"><a href="/medgen/208653" ref="tree=MeSH" title="MedGen record for Jackson-Weiss syndrome">Jackson-Weiss syndrome</a></span></li><li><span class="TLline"><a href="/medgen/355217" ref="tree=MeSH" title="MedGen record for Muenke syndrome">Muenke syndrome</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/412215" ref="tree=MeSH" title="MedGen record for Cryopyrin associated periodic syndrome">Cryopyrin associated periodic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/98370" ref="tree=MeSH" title="MedGen record for Chronic infantile neurological, cutaneous and articular syndrome">Chronic infantile neurological, cutaneous and articular syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1843368" ref="tree=MeSH" title="MedGen record for F12-associated cold autoinflammatory syndrome">F12-associated cold autoinflammatory syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120634" ref="tree=MeSH" title="MedGen record for Familial amyloid nephropathy with urticaria AND deafness">Familial amyloid nephropathy with urticaria AND deafness</a></span></li><li><span class="TLline"><a href="/medgen/137986" ref="tree=MeSH" title="MedGen record for Familial cold autoinflammatory syndrome">Familial cold autoinflammatory syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1647324" ref="tree=MeSH" title="MedGen record for Familial cold autoinflammatory syndrome 1">Familial cold autoinflammatory syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/435869" ref="tree=MeSH" title="MedGen record for Familial cold autoinflammatory syndrome 2">Familial cold autoinflammatory syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/482544" ref="tree=MeSH" title="MedGen record for Familial cold autoinflammatory syndrome 3">Familial cold autoinflammatory syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/863713" ref="tree=MeSH" title="MedGen record for Familial cold autoinflammatory syndrome 4">Familial cold autoinflammatory syndrome 4</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/82692" ref="tree=MeSH" title="MedGen record for Cryptophthalmos syndrome">Cryptophthalmos syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1693375" ref="tree=MeSH" title="MedGen record for Crystal-Storing Histiocytosis">Crystal-Storing Histiocytosis</a></span></li><li><span class="TLline"><a href="/medgen/66353" ref="tree=MeSH" title="MedGen record for Cystathioninuria">Cystathioninuria</a></span></li><li><span class="TLline"><a href="/medgen/8226" ref="tree=MeSH" title="MedGen record for Cystinuria">Cystinuria</a></span><ul><li><span class="TLline"><a href="/medgen/347441" ref="tree=MeSH" title="MedGen record for Cystinuria type A">Cystinuria type A</a></span></li><li><span class="TLline"><a href="/medgen/347442" ref="tree=MeSH" title="MedGen record for Cystinuria type B">Cystinuria type B</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75662" ref="tree=MeSH" title="MedGen record for Cytochrome-c oxidase deficiency">Cytochrome-c oxidase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/452447" ref="tree=MeSH" title="MedGen record for D-Glyceric aciduria">D-Glyceric aciduria</a></span></li><li><span class="TLline"><a href="/medgen/4150" ref="tree=MeSH" title="MedGen record for Dandy-Walker syndrome">Dandy-Walker syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1842616" ref="tree=MeSH" title="MedGen record for Isolated Dandy-Walker malformation with hydrocephalus">Isolated Dandy-Walker malformation with hydrocephalus</a></span></li><li><span class="TLline"><a href="/medgen/1842486" ref="tree=MeSH" title="MedGen record for Isolated Dandy-Walker malformation without hydrocephalus">Isolated Dandy-Walker malformation without hydrocephalus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78752" ref="tree=MeSH" title="MedGen record for De Lange syndrome">De Lange syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/315658" ref="tree=MeSH" title="MedGen record for Congenital muscular hypertrophy-cerebral syndrome">Congenital muscular hypertrophy-cerebral syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1645760" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 1">Cornelia de Lange syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/339902" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 3">Cornelia de Lange syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/766431" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 4">Cornelia de Lange syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/763817" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 5">Cornelia de Lange syndrome 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75550" ref="tree=MeSH" title="MedGen record for DE SANCTIS-CACCHIONE SYNDROME">DE SANCTIS-CACCHIONE SYNDROME</a></span></li><li><span class="TLline"><a href="/medgen/1793876" ref="tree=MeSH" title="MedGen record for Deafness due to Connexin 26 Gene Anomaly">Deafness due to Connexin 26 Gene Anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/388720" ref="tree=MeSH" title="MedGen record for Autosomal recessive nonsyndromic hearing loss 1A">Autosomal recessive nonsyndromic hearing loss 1A</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/220945" ref="tree=MeSH" title="MedGen record for Deficiency of aromatic-L-amino-acid decarboxylase">Deficiency of aromatic-L-amino-acid decarboxylase</a></span></li><li><span class="TLline"><a href="/medgen/90998" ref="tree=MeSH" title="MedGen record for Deficiency of butyryl-CoA dehydrogenase">Deficiency of butyryl-CoA dehydrogenase</a></span></li><li><span class="TLline"><a href="/medgen/78692" ref="tree=MeSH" title="MedGen record for Deficiency of hydroxymethylglutaryl-CoA lyase">Deficiency of hydroxymethylglutaryl-CoA lyase</a></span></li><li><span class="TLline"><a href="/medgen/370754" ref="tree=MeSH" title="MedGen record for Deficiency of isobutyryl-CoA dehydrogenase">Deficiency of isobutyryl-CoA dehydrogenase</a></span></li><li><span class="TLline"><a href="/medgen/87453" ref="tree=MeSH" title="MedGen record for Deficiency of mevalonate kinase">Deficiency of mevalonate kinase</a></span><ul><li><span class="TLline"><a href="/medgen/140768" ref="tree=MeSH" title="MedGen record for Hyperimmunoglobulin D with periodic fever">Hyperimmunoglobulin D with periodic fever</a></span></li><li><span class="TLline"><a href="/medgen/368373" ref="tree=MeSH" title="MedGen record for Mevalonic aciduria">Mevalonic aciduria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/96605" ref="tree=MeSH" title="MedGen record for Deletion of long arm of chromosome 18">Deletion of long arm of chromosome 18</a></span></li><li><span class="TLline"><a href="/medgen/96604" ref="tree=MeSH" title="MedGen record for Deletion of short arm of chromosome 18">Deletion of short arm of chromosome 18</a></span></li><li><span class="TLline"><a href="/medgen/155630" ref="tree=MeSH" title="MedGen record for Dentatorubral-pallidoluysian atrophy">Dentatorubral-pallidoluysian atrophy</a></span></li><li><span class="TLline"><a href="/medgen/8313" ref="tree=MeSH" title="MedGen record for Dentinogenesis imperfecta">Dentinogenesis imperfecta</a></span><ul><li><span class="TLline"><a href="/medgen/892338" ref="tree=MeSH" title="MedGen record for Dentinogenesis imperfecta limited to primary teeth">Dentinogenesis imperfecta limited to primary teeth</a></span></li><li><span class="TLline"><a href="/medgen/869121" ref="tree=MeSH" title="MedGen record for Dentinogenesis imperfecta of primary and permanent teeth">Dentinogenesis imperfecta of primary and permanent teeth</a></span></li><li><span class="TLline"><a href="/medgen/424922" ref="tree=MeSH" title="MedGen record for Dentinogenesis imperfecta type 2">Dentinogenesis imperfecta type 2</a></span></li><li><span class="TLline"><a href="/medgen/97995" ref="tree=MeSH" title="MedGen record for Dentinogenesis imperfecta type 3">Dentinogenesis imperfecta type 3</a></span></li><li><span class="TLline"><a href="/medgen/104891" ref="tree=MeSH" title="MedGen record for Regional odontodysplasia">Regional odontodysplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/4255" ref="tree=MeSH" title="MedGen record for Dextrocardia">Dextrocardia</a></span></li><li><span class="TLline"><a href="/medgen/4268" ref="tree=MeSH" title="MedGen record for Diaphyseal dysplasia">Diaphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/113103" ref="tree=MeSH" title="MedGen record for Diastrophic dysplasia">Diastrophic dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/5695" ref="tree=MeSH" title="MedGen record for Diffuse idiopathic skeletal hyperostosis">Diffuse idiopathic skeletal hyperostosis</a></span></li><li><span class="TLline"><a href="/medgen/57634" ref="tree=MeSH" title="MedGen record for Digital flexor tenosynovitis">Digital flexor tenosynovitis</a></span></li><li><span class="TLline"><a href="/medgen/409522" ref="tree=MeSH" title="MedGen record for Dihydropyrimidine dehydrogenase deficiency">Dihydropyrimidine dehydrogenase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/776457" ref="tree=MeSH" title="MedGen record for Fluoropyrimidine response">Fluoropyrimidine response</a></span><ul><li><span class="TLline"><a href="/medgen/450435" ref="tree=MeSH" title="MedGen record for Capecitabine response">Capecitabine response</a></span></li><li><span class="TLline"><a href="/medgen/450455" ref="tree=MeSH" title="MedGen record for Fluorouracil response">Fluorouracil response</a></span></li><li><span class="TLline"><a href="/medgen/338948" ref="tree=MeSH" title="MedGen record for Tegafur response">Tegafur response</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/57586" ref="tree=MeSH" title="MedGen record for Disorder of the urea cycle metabolism">Disorder of the urea cycle metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/199727" ref="tree=MeSH" title="MedGen record for Carbamoyl-phosphate synthetase 1 deficiency">Carbamoyl-phosphate synthetase 1 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/104491" ref="tree=MeSH" title="MedGen record for Citrullinemia">Citrullinemia</a></span><ul><li><span class="TLline"><a href="/medgen/1648491" ref="tree=MeSH" title="MedGen record for Citrullinemia type I">Citrullinemia type I</a></span></li><li><span class="TLline"><a href="/medgen/350276" ref="tree=MeSH" title="MedGen record for Citrullinemia type II">Citrullinemia type II</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/907954" ref="tree=MeSH" title="MedGen record for Congenital hyperammonemia, type I">Congenital hyperammonemia, type I</a></span></li><li><span class="TLline"><a href="/medgen/120649" ref="tree=MeSH" title="MedGen record for Hyperammonemia, type III">Hyperammonemia, type III</a></span></li><li><span class="TLline"><a href="/medgen/816734" ref="tree=MeSH" title="MedGen record for Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency">Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency</a></span></li><li><span class="TLline"><a href="/medgen/376153" ref="tree=MeSH" title="MedGen record for Hyperinsulinism-hyperammonemia syndrome">Hyperinsulinism-hyperammonemia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82815" ref="tree=MeSH" title="MedGen record for Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome">Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75692" ref="tree=MeSH" title="MedGen record for Ornithine carbamoyltransferase deficiency">Ornithine carbamoyltransferase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/339855" ref="tree=MeSH" title="MedGen record for DNA ligase IV deficiency">DNA ligase IV deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1647918" ref="tree=MeSH" title="MedGen record for Dominant hereditary optic atrophy">Dominant hereditary optic atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/895207" ref="tree=MeSH" title="MedGen record for Autosomal dominant optic atrophy and peripheral neuropathy">Autosomal dominant optic atrophy and peripheral neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/137902" ref="tree=MeSH" title="MedGen record for Autosomal dominant optic atrophy classic form">Autosomal dominant optic atrophy classic form</a></span></li><li><span class="TLline"><a href="/medgen/976364" ref="tree=MeSH" title="MedGen record for Autosomal dominant optic atrophy plus syndrome">Autosomal dominant optic atrophy plus syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/318633" ref="tree=MeSH" title="MedGen record for Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome">Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome</a></span></li><li><span class="TLline"><a href="/medgen/898923" ref="tree=MeSH" title="MedGen record for Optic atrophy 8">Optic atrophy 8</a></span></li><li><span class="TLline"><a href="/medgen/478179" ref="tree=MeSH" title="MedGen record for Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy">Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/331597" ref="tree=MeSH" title="MedGen record for Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant">Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/371657" ref="tree=MeSH" title="MedGen record for Optic atrophy 3">Optic atrophy 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/473794" ref="tree=MeSH" title="MedGen record for Double Y syndrome">Double Y syndrome</a></span></li><li><span class="TLline"><a href="/medgen/886101" ref="tree=MeSH" title="MedGen record for Drug- and Toxin-Induced Pulmonary Arterial Hypertension">Drug- and Toxin-Induced Pulmonary Arterial Hypertension</a></span></li><li><span class="TLline"><a href="/medgen/4413" ref="tree=MeSH" title="MedGen record for Duane retraction syndrome">Duane retraction syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/196721" ref="tree=MeSH" title="MedGen record for Duane retraction syndrome 2">Duane retraction syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/201329" ref="tree=MeSH" title="MedGen record for Duane syndrome type 1">Duane syndrome type 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/59797" ref="tree=MeSH" title="MedGen record for Dubowitz syndrome">Dubowitz syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120527" ref="tree=MeSH" title="MedGen record for Dyggve-Melchior-Clausen syndrome">Dyggve-Melchior-Clausen syndrome</a></span></li><li><span class="TLline"><a href="/medgen/4435" ref="tree=MeSH" title="MedGen record for Ebstein anomaly">Ebstein anomaly</a></span></li><li><span class="TLline"><a href="/medgen/375786" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia and immune deficiency">Ectodermal dysplasia and immune deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/375787" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia and immunodeficiency 1">Ectodermal dysplasia and immunodeficiency 1</a></span></li><li><span class="TLline"><a href="/medgen/394295" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia and immunodeficiency 2">Ectodermal dysplasia and immunodeficiency 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78566" ref="tree=MeSH" title="MedGen record for Ectrodactyly">Ectrodactyly</a></span><ul><li><span class="TLline"><a href="/medgen/140919" ref="tree=MeSH" title="MedGen record for Split foot">Split foot</a></span></li><li><span class="TLline"><a href="/medgen/397570" ref="tree=MeSH" title="MedGen record for Split hand">Split hand</a></span></li><li><span class="TLline"><a href="/medgen/419314" ref="tree=MeSH" title="MedGen record for Split hand-foot malformation 1">Split hand-foot malformation 1</a></span></li><li><span class="TLline"><a href="/medgen/325070" ref="tree=MeSH" title="MedGen record for Split hand-foot malformation 3">Split hand-foot malformation 3</a></span></li><li><span class="TLline"><a href="/medgen/338277" ref="tree=MeSH" title="MedGen record for Split hand-foot malformation 5">Split hand-foot malformation 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3966" ref="tree=MeSH" title="MedGen record for Ectromelia">Ectromelia</a></span><ul><li><span class="TLline"><a href="/medgen/8014" ref="tree=MeSH" title="MedGen record for Amelia">Amelia</a></span><ul><li><span class="TLline"><a href="/medgen/539370" ref="tree=MeSH" title="MedGen record for Amelia of lower limb">Amelia of lower limb</a></span></li><li><span class="TLline"><a href="/medgen/539335" ref="tree=MeSH" title="MedGen record for Amelia of upper limb">Amelia of upper limb</a></span></li><li><span class="TLline"><a href="/medgen/444004" ref="tree=MeSH" title="MedGen record for Tetraamelia">Tetraamelia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/9194" ref="tree=MeSH" title="MedGen record for Hemimelia">Hemimelia</a></span><ul><li><span class="TLline"><a href="/medgen/539380" ref="tree=MeSH" title="MedGen record for Fibular hemimelia">Fibular hemimelia</a></span></li><li><span class="TLline"><a href="/medgen/539344" ref="tree=MeSH" title="MedGen record for Radial hemimelia">Radial hemimelia</a></span></li><li><span class="TLline"><a href="/medgen/120551" ref="tree=MeSH" title="MedGen record for Tibial hemimelia">Tibial hemimelia</a></span></li><li><span class="TLline"><a href="/medgen/539346" ref="tree=MeSH" title="MedGen record for Ulnar hemimelia">Ulnar hemimelia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10721" ref="tree=MeSH" title="MedGen record for Phocomelia">Phocomelia</a></span><ul><li><span class="TLline"><a href="/medgen/82718" ref="tree=MeSH" title="MedGen record for Lower limb phocomelia">Lower limb phocomelia</a></span></li><li><span class="TLline"><a href="/medgen/376571" ref="tree=MeSH" title="MedGen record for Tetraphocomelia">Tetraphocomelia</a></span></li><li><span class="TLline"><a href="/medgen/82715" ref="tree=MeSH" title="MedGen record for Upper limb phocomelia">Upper limb phocomelia</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1385012" ref="tree=MeSH" title="MedGen record for Eiken Type Chondrodysplasia">Eiken Type Chondrodysplasia</a></span></li><li><span class="TLline"><a href="/medgen/8584" ref="tree=MeSH" title="MedGen record for Ellis-van Creveld syndrome">Ellis-van Creveld syndrome</a></span></li><li><span class="TLline"><a href="/medgen/41766" ref="tree=MeSH" title="MedGen record for Empty sella syndrome">Empty sella syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1646412" ref="tree=MeSH" title="MedGen record for Encephalocele">Encephalocele</a></span><ul><li><span class="TLline"><a href="/medgen/1853830" ref="tree=MeSH" title="MedGen record for Anterior encephalocele">Anterior encephalocele</a></span><ul><li><span class="TLline"><a href="/medgen/342632" ref="tree=MeSH" title="MedGen record for Anterior basal encephalocele">Anterior basal encephalocele</a></span></li><li><span class="TLline"><a href="/medgen/608903" ref="tree=MeSH" title="MedGen record for Frontoethmoidal encephalocele">Frontoethmoidal encephalocele</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868771" ref="tree=MeSH" title="MedGen record for Basal encephalocele">Basal encephalocele</a></span></li><li><span class="TLline"><a href="/medgen/358250" ref="tree=MeSH" title="MedGen record for Cranium bifidum occultum">Cranium bifidum occultum</a></span><ul><li><span class="TLline"><a href="/medgen/401480" ref="tree=MeSH" title="MedGen record for Parietal foramina 1">Parietal foramina 1</a></span></li><li><span class="TLline"><a href="/medgen/355358" ref="tree=MeSH" title="MedGen record for Parietal foramina 2">Parietal foramina 2</a></span></li><li><span class="TLline"><a href="/medgen/322792" ref="tree=MeSH" title="MedGen record for Parietal foramina 3">Parietal foramina 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82743" ref="tree=MeSH" title="MedGen record for Meningoencephalocele">Meningoencephalocele</a></span></li><li><span class="TLline"><a href="/medgen/4935" ref="tree=MeSH" title="MedGen record for Occipital encephalocele">Occipital encephalocele</a></span></li><li><span class="TLline"><a href="/medgen/488903" ref="tree=MeSH" title="MedGen record for Parietal encephalocele">Parietal encephalocele</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/41832" ref="tree=MeSH" title="MedGen record for Epidermolysis bullosa">Epidermolysis bullosa</a></span><ul><li><span class="TLline"><a href="/medgen/37178" ref="tree=MeSH" title="MedGen record for Acquired epidermolysis bullosa">Acquired epidermolysis bullosa</a></span></li><li><span class="TLline"><a href="/medgen/37179" ref="tree=MeSH" title="MedGen record for Epidermolysis bullosa dystrophica">Epidermolysis bullosa dystrophica</a></span><ul><li><span class="TLline"><a href="/medgen/266151" ref="tree=MeSH" title="MedGen record for Epidermolysis bullosa pruriginosa">Epidermolysis bullosa pruriginosa</a></span></li><li><span class="TLline"><a href="/medgen/140935" ref="tree=MeSH" title="MedGen record for Generalized dominant dystrophic epidermolysis bullosa">Generalized dominant dystrophic epidermolysis bullosa</a></span></li><li><span class="TLline"><a href="/medgen/634276" ref="tree=MeSH" title="MedGen record for Localized dystrophic epidermolysis bullosa">Localized dystrophic epidermolysis bullosa</a></span></li><li><span class="TLline"><a href="/medgen/36311" ref="tree=MeSH" title="MedGen record for Recessive dystrophic epidermolysis bullosa">Recessive dystrophic epidermolysis bullosa</a></span></li><li><span class="TLline"><a href="/medgen/698413" ref="tree=MeSH" title="MedGen record for Recessive dystrophic epidermolysis bullosa inversa">Recessive dystrophic epidermolysis bullosa inversa</a></span></li><li><span class="TLline"><a href="/medgen/1392226" ref="tree=MeSH" title="MedGen record for Recessive dystrophic epidermolysis bullosa-generalized other">Recessive dystrophic epidermolysis bullosa-generalized other</a></span></li><li><span class="TLline"><a href="/medgen/343607" ref="tree=MeSH" title="MedGen record for Transient bullous dermolysis of the newborn">Transient bullous dermolysis of the newborn</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/86896" ref="tree=MeSH" title="MedGen record for Epidermolysis bullosa simplex">Epidermolysis bullosa simplex</a></span><ul><li><span class="TLline"><a href="/medgen/38194" ref="tree=MeSH" title="MedGen record for Epidermolysis bullosa simplex 1A, generalized severe">Epidermolysis bullosa simplex 1A, generalized severe</a></span></li><li><span class="TLline"><a href="/medgen/87016" ref="tree=MeSH" title="MedGen record for Epidermolysis bullosa simplex 1C, localized">Epidermolysis bullosa simplex 1C, localized</a></span></li><li><span class="TLline"><a href="/medgen/140934" ref="tree=MeSH" title="MedGen record for Epidermolysis bullosa simplex with mottled pigmentation">Epidermolysis bullosa simplex with mottled pigmentation</a></span></li><li><span class="TLline"><a href="/medgen/1794134" ref="tree=MeSH" title="MedGen record for Epidermolysis bullosa simplex, Koebner type">Epidermolysis bullosa simplex, Koebner type</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/86898" ref="tree=MeSH" title="MedGen record for Junctional epidermolysis bullosa">Junctional epidermolysis bullosa</a></span><ul><li><span class="TLline"><a href="/medgen/1388385" ref="tree=MeSH" title="MedGen record for Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome">Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/384018" ref="tree=MeSH" title="MedGen record for Epidermolysis Bullosa, Junctional, with Pyloric Atresia">Epidermolysis Bullosa, Junctional, with Pyloric Atresia</a></span></li><li><span class="TLline"><a href="/medgen/609458" ref="tree=MeSH" title="MedGen record for Generalized junctional epidermolysis bullosa non-Herlitz type">Generalized junctional epidermolysis bullosa non-Herlitz type</a></span></li><li><span class="TLline"><a href="/medgen/36328" ref="tree=MeSH" title="MedGen record for Junctional epidermolysis bullosa gravis of Herlitz">Junctional epidermolysis bullosa gravis of Herlitz</a></span></li><li><span class="TLline"><a href="/medgen/382142" ref="tree=MeSH" title="MedGen record for Junctional epidermolysis bullosa inversa">Junctional epidermolysis bullosa inversa</a></span></li><li><span class="TLline"><a href="/medgen/1810975" ref="tree=MeSH" title="MedGen record for Junctional epidermolysis bullosa with pyloric atresia">Junctional epidermolysis bullosa with pyloric atresia</a></span></li><li><span class="TLline"><a href="/medgen/82798" ref="tree=MeSH" title="MedGen record for Junctional epidermolysis bullosa, non-Herlitz type">Junctional epidermolysis bullosa, non-Herlitz type</a></span></li><li><span class="TLline"><a href="/medgen/272227" ref="tree=MeSH" title="MedGen record for Laryngo-onycho-cutaneous syndrome">Laryngo-onycho-cutaneous syndrome</a></span></li><li><span class="TLline"><a href="/medgen/930393" ref="tree=MeSH" title="MedGen record for Late-onset junctional epidermolysis bullosa">Late-onset junctional epidermolysis bullosa</a></span></li><li><span class="TLline"><a href="/medgen/341663" ref="tree=MeSH" title="MedGen record for Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome">Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1814511" ref="tree=MeSH" title="MedGen record for Localized junctional epidermolysis bullosa, non-Herlitz type">Localized junctional epidermolysis bullosa, non-Herlitz type</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1641798" ref="tree=MeSH" title="MedGen record for Epilepsy, familial focal, with variable foci 1">Epilepsy, familial focal, with variable foci 1</a></span></li><li><span class="TLline"><a href="/medgen/75587" ref="tree=MeSH" title="MedGen record for Erythrokeratodermia variabilis">Erythrokeratodermia variabilis</a></span></li><li><span class="TLline"><a href="/medgen/8687" ref="tree=MeSH" title="MedGen record for Erythromelalgia">Erythromelalgia</a></span><ul><li><span class="TLline"><a href="/medgen/8688" ref="tree=MeSH" title="MedGen record for Primary erythromelalgia">Primary erythromelalgia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/102408" ref="tree=MeSH" title="MedGen record for Erythropoietic porphyria">Erythropoietic porphyria</a></span></li><li><span class="TLline"><a href="/medgen/56455" ref="tree=MeSH" title="MedGen record for Erythropoietic protoporphyria">Erythropoietic protoporphyria</a></span></li><li><span class="TLline"><a href="/medgen/338020" ref="tree=MeSH" title="MedGen record for Exstrophy-epispadias complex">Exstrophy-epispadias complex</a></span><ul><li><span class="TLline"><a href="/medgen/2661" ref="tree=MeSH" title="MedGen record for Bladder exstrophy">Bladder exstrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1740753" ref="tree=MeSH" title="MedGen record for Supravesical Fissure of Urinary Bladder">Supravesical Fissure of Urinary Bladder</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/83377" ref="tree=MeSH" title="MedGen record for Cloacal exstrophy">Cloacal exstrophy</a></span></li><li><span class="TLline"><a href="/medgen/41839" ref="tree=MeSH" title="MedGen record for Epispadias">Epispadias</a></span><ul><li><span class="TLline"><a href="/medgen/889299" ref="tree=MeSH" title="MedGen record for Continent Epispadias">Continent Epispadias</a></span></li><li><span class="TLline"><a href="/medgen/647750" ref="tree=MeSH" title="MedGen record for Epispadias, male">Epispadias, male</a></span></li><li><span class="TLline"><a href="/medgen/881685" ref="tree=MeSH" title="MedGen record for Incontinent Epispadias">Incontinent Epispadias</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/473218" ref="tree=MeSH" title="MedGen record for Factor V Leiden mutation">Factor V Leiden mutation</a></span></li><li><span class="TLline"><a href="/medgen/98464" ref="tree=MeSH" title="MedGen record for Familial aplasia of the vermis">Familial aplasia of the vermis</a></span><ul><li><span class="TLline"><a href="/medgen/1644883" ref="tree=MeSH" title="MedGen record for Joubert syndrome 1">Joubert syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/334114" ref="tree=MeSH" title="MedGen record for Joubert syndrome 2">Joubert syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/332931" ref="tree=MeSH" title="MedGen record for Joubert syndrome 3">Joubert syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/347545" ref="tree=MeSH" title="MedGen record for Joubert syndrome 5">Joubert syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/342805" ref="tree=MeSH" title="MedGen record for Joubert syndrome 6">Joubert syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/369401" ref="tree=MeSH" title="MedGen record for Joubert syndrome 7">Joubert syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/436772" ref="tree=MeSH" title="MedGen record for Joubert syndrome 8">Joubert syndrome 8</a></span></li><li><span class="TLline"><a href="/medgen/382940" ref="tree=MeSH" title="MedGen record for Joubert syndrome 9">Joubert syndrome 9</a></span></li><li><span class="TLline"><a href="/medgen/440688" ref="tree=MeSH" title="MedGen record for Joubert syndrome 10">Joubert syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/481661" ref="tree=MeSH" title="MedGen record for Joubert syndrome 13">Joubert syndrome 13</a></span></li><li><span class="TLline"><a href="/medgen/482396" ref="tree=MeSH" title="MedGen record for Joubert syndrome 14">Joubert syndrome 14</a></span></li><li><span class="TLline"><a href="/medgen/766178" ref="tree=MeSH" title="MedGen record for Joubert syndrome 17">Joubert syndrome 17</a></span></li><li><span class="TLline"><a href="/medgen/335526" ref="tree=MeSH" title="MedGen record for Joubert syndrome with renal defect">Joubert syndrome with renal defect</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/335678" ref="tree=MeSH" title="MedGen record for Familial digital arthropathy-brachydactyly">Familial digital arthropathy-brachydactyly</a></span></li><li><span class="TLline"><a href="/medgen/41678" ref="tree=MeSH" title="MedGen record for Familial dysautonomia">Familial dysautonomia</a></span></li><li><span class="TLline"><a href="/medgen/816229" ref="tree=MeSH" title="MedGen record for Familial episodic pain syndrome with predominantly lower limb involvement">Familial episodic pain syndrome with predominantly lower limb involvement</a></span></li><li><span class="TLline"><a href="/medgen/75681" ref="tree=MeSH" title="MedGen record for Familial hypokalemia-hypomagnesemia">Familial hypokalemia-hypomagnesemia</a></span></li><li><span class="TLline"><a href="/medgen/45811" ref="tree=MeSH" title="MedGen record for Familial Mediterranean fever">Familial Mediterranean fever</a></span><ul><li><span class="TLline"><a href="/medgen/976601" ref="tree=MeSH" title="MedGen record for Autosomal recessive familial Mediterranean fever">Autosomal recessive familial Mediterranean fever</a></span></li><li><span class="TLline"><a href="/medgen/341987" ref="tree=MeSH" title="MedGen record for Familial Mediterranean fever, autosomal dominant">Familial Mediterranean fever, autosomal dominant</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/124408" ref="tree=MeSH" title="MedGen record for Familial partial lipodystrophy">Familial partial lipodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1810936" ref="tree=MeSH" title="MedGen record for AKT2-related familial partial lipodystrophy">AKT2-related familial partial lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1808090" ref="tree=MeSH" title="MedGen record for Autosomal semi-dominant severe lipodystrophic laminopathy">Autosomal semi-dominant severe lipodystrophic laminopathy</a></span></li><li><span class="TLline"><a href="/medgen/815270" ref="tree=MeSH" title="MedGen record for CIDEC-related familial partial lipodystrophy">CIDEC-related familial partial lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/354526" ref="tree=MeSH" title="MedGen record for Familial partial lipodystrophy, Dunnigan type">Familial partial lipodystrophy, Dunnigan type</a></span></li><li><span class="TLline"><a href="/medgen/318591" ref="tree=MeSH" title="MedGen record for Familial partial lipodystrophy, Kobberling type">Familial partial lipodystrophy, Kobberling type</a></span></li><li><span class="TLline"><a href="/medgen/863306" ref="tree=MeSH" title="MedGen record for LIPE-related familial partial lipodystrophy">LIPE-related familial partial lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1675945" ref="tree=MeSH" title="MedGen record for PLIN1-related familial partial lipodystrophy">PLIN1-related familial partial lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/328393" ref="tree=MeSH" title="MedGen record for PPARG-related familial partial lipodystrophy">PPARG-related familial partial lipodystrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/18291" ref="tree=MeSH" title="MedGen record for Familial periodic paralysis">Familial periodic paralysis</a></span><ul><li><span class="TLline"><a href="/medgen/68665" ref="tree=MeSH" title="MedGen record for Hyperkalemic periodic paralysis">Hyperkalemic periodic paralysis</a></span></li><li><span class="TLline"><a href="/medgen/116058" ref="tree=MeSH" title="MedGen record for Hypokalemic periodic paralysis">Hypokalemic periodic paralysis</a></span><ul><li><span class="TLline"><a href="/medgen/811387" ref="tree=MeSH" title="MedGen record for Hypokalemic periodic paralysis, type 1">Hypokalemic periodic paralysis, type 1</a></span></li><li><span class="TLline"><a href="/medgen/413748" ref="tree=MeSH" title="MedGen record for Hypokalemic periodic paralysis, type 2">Hypokalemic periodic paralysis, type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1670241" ref="tree=MeSH" title="MedGen record for Periodic paralysis with later-onset distal motor neuropathy">Periodic paralysis with later-onset distal motor neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/1668303" ref="tree=MeSH" title="MedGen record for Periodic paralysis with transient compartment-like syndrome">Periodic paralysis with transient compartment-like syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78654" ref="tree=MeSH" title="MedGen record for Farber lipogranulomatosis">Farber lipogranulomatosis</a></span></li><li><span class="TLline"><a href="/medgen/104768" ref="tree=MeSH" title="MedGen record for Fatal familial insomnia">Fatal familial insomnia</a></span></li><li><span class="TLline"><a href="/medgen/163209" ref="tree=MeSH" title="MedGen record for Feingold syndrome">Feingold syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1637716" ref="tree=MeSH" title="MedGen record for Feingold syndrome type 1">Feingold syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/482119" ref="tree=MeSH" title="MedGen record for Feingold syndrome type 2">Feingold syndrome type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/4674" ref="tree=MeSH" title="MedGen record for Felty syndrome">Felty syndrome</a></span></li><li><span class="TLline"><a href="/medgen/220903" ref="tree=MeSH" title="MedGen record for Fetal akinesia deformation sequence 1">Fetal akinesia deformation sequence 1</a></span></li><li><span class="TLline"><a href="/medgen/4700" ref="tree=MeSH" title="MedGen record for Fibromuscular dysplasia">Fibromuscular dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/152667" ref="tree=MeSH" title="MedGen record for Floating-Harbor syndrome">Floating-Harbor syndrome</a></span></li><li><span class="TLline"><a href="/medgen/42055" ref="tree=MeSH" title="MedGen record for Focal dermal hypoplasia">Focal dermal hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/42092" ref="tree=MeSH" title="MedGen record for Fox-Fordyce disease">Fox-Fordyce disease</a></span></li><li><span class="TLline"><a href="/medgen/8912" ref="tree=MeSH" title="MedGen record for Fragile X syndrome">Fragile X syndrome</a></span></li><li><span class="TLline"><a href="/medgen/5276" ref="tree=MeSH" title="MedGen record for Friedreich ataxia">Friedreich ataxia</a></span><ul><li><span class="TLline"><a href="/medgen/383962" ref="tree=MeSH" title="MedGen record for Friedreich ataxia 1">Friedreich ataxia 1</a></span></li><li><span class="TLline"><a href="/medgen/356134" ref="tree=MeSH" title="MedGen record for Friedreich ataxia 2">Friedreich ataxia 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/406292" ref="tree=MeSH" title="MedGen record for Frontonasal dysplasia">Frontonasal dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/350933" ref="tree=MeSH" title="MedGen record for Acromelic frontonasal dysostosis">Acromelic frontonasal dysostosis</a></span></li><li><span class="TLline"><a href="/medgen/929528" ref="tree=MeSH" title="MedGen record for Craniofrontonasal dysplasia-Poland anomaly syndrome">Craniofrontonasal dysplasia-Poland anomaly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/65095" ref="tree=MeSH" title="MedGen record for Craniofrontonasal syndrome">Craniofrontonasal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/338944" ref="tree=MeSH" title="MedGen record for Craniorhiny">Craniorhiny</a></span></li><li><span class="TLline"><a href="/medgen/462056" ref="tree=MeSH" title="MedGen record for Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome">Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome</a></span></li><li><span class="TLline"><a href="/medgen/462053" ref="tree=MeSH" title="MedGen record for Frontonasal dysplasia with alopecia and genital anomaly">Frontonasal dysplasia with alopecia and genital anomaly</a></span></li><li><span class="TLline"><a href="/medgen/1799315" ref="tree=MeSH" title="MedGen record for Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome">Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1803615" ref="tree=MeSH" title="MedGen record for Frontorhiny">Frontorhiny</a></span></li><li><span class="TLline"><a href="/medgen/444125" ref="tree=MeSH" title="MedGen record for Gollop syndrome">Gollop syndrome</a></span></li><li><span class="TLline"><a href="/medgen/316969" ref="tree=MeSH" title="MedGen record for Oculoauriculofrontonasal syndrome">Oculoauriculofrontonasal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/371972" ref="tree=MeSH" title="MedGen record for Pai syndrome">Pai syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1798907" ref="tree=MeSH" title="MedGen record for Six2-related frontonasal dysplasia">Six2-related frontonasal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/989457" ref="tree=MeSH" title="MedGen record for Teebi hypertelorism syndrome 1">Teebi hypertelorism syndrome 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/83266" ref="tree=MeSH" title="MedGen record for Frontotemporal dementia">Frontotemporal dementia</a></span><ul><li><span class="TLline"><a href="/medgen/860225" ref="tree=MeSH" title="MedGen record for Behavioral variant of frontotemporal dementia">Behavioral variant of frontotemporal dementia</a></span></li><li><span class="TLline"><a href="/medgen/116020" ref="tree=MeSH" title="MedGen record for Pick disease">Pick disease</a></span></li><li><span class="TLline"><a href="/medgen/148373" ref="tree=MeSH" title="MedGen record for Primary progressive non fluent aphasia">Primary progressive non fluent aphasia</a></span></li><li><span class="TLline"><a href="/medgen/83268" ref="tree=MeSH" title="MedGen record for Semantic dementia">Semantic dementia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/65088" ref="tree=MeSH" title="MedGen record for Fryns syndrome">Fryns syndrome</a></span></li><li><span class="TLline"><a href="/medgen/4800" ref="tree=MeSH" title="MedGen record for Fuchs endothelial dystrophy">Fuchs endothelial dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/473706" ref="tree=MeSH" title="MedGen record for G6PD deficiency">G6PD deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/4667" ref="tree=MeSH" title="MedGen record for Favism">Favism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/167086" ref="tree=MeSH" title="MedGen record for Galloway-Mowat syndrome">Galloway-Mowat syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1634188" ref="tree=MeSH" title="MedGen record for Galloway-Mowat syndrome 1">Galloway-Mowat syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1627611" ref="tree=MeSH" title="MedGen record for Galloway-Mowat syndrome 3">Galloway-Mowat syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/1613511" ref="tree=MeSH" title="MedGen record for Galloway-Mowat syndrome 4">Galloway-Mowat syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/1617227" ref="tree=MeSH" title="MedGen record for Galloway-Mowat syndrome 5">Galloway-Mowat syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/1625619" ref="tree=MeSH" title="MedGen record for Galloway-Mowat syndrome 2, X-linked">Galloway-Mowat syndrome 2, X-linked</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1708537" ref="tree=MeSH" title="MedGen record for Gastrointestinal defect and immunodeficiency syndrome">Gastrointestinal defect and immunodeficiency syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1806192" ref="tree=MeSH" title="MedGen record for Gastrointestinal defects and immunodeficiency syndrome 1">Gastrointestinal defects and immunodeficiency syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1811526" ref="tree=MeSH" title="MedGen record for Gastrointestinal defects and immunodeficiency syndrome 2">Gastrointestinal defects and immunodeficiency syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82721" ref="tree=MeSH" title="MedGen record for Gastroschisis">Gastroschisis</a></span></li><li><span class="TLline"><a href="/medgen/154257" ref="tree=MeSH" title="MedGen record for Genu varum">Genu varum</a></span><ul><li><span class="TLline"><a href="/medgen/867641" ref="tree=MeSH" title="MedGen record for Wind-swept deformity of the knees">Wind-swept deformity of the knees</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/4886" ref="tree=MeSH" title="MedGen record for Gerstmann-Straussler-Scheinker syndrome">Gerstmann-Straussler-Scheinker syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1684765" ref="tree=MeSH" title="MedGen record for Giant axonal neuropathy">Giant axonal neuropathy</a></span><ul><li><span class="TLline"><a href="/medgen/376775" ref="tree=MeSH" title="MedGen record for Giant axonal neuropathy 1">Giant axonal neuropathy 1</a></span></li><li><span class="TLline"><a href="/medgen/400593" ref="tree=MeSH" title="MedGen record for Giant axonal neuropathy 2">Giant axonal neuropathy 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/52736" ref="tree=MeSH" title="MedGen record for Glanzmann thrombasthenia">Glanzmann thrombasthenia</a></span></li><li><span class="TLline"><a href="/medgen/82889" ref="tree=MeSH" title="MedGen record for Glucocorticoid deficiency with achalasia">Glucocorticoid deficiency with achalasia</a></span></li><li><span class="TLline"><a href="/medgen/124337" ref="tree=MeSH" title="MedGen record for Glutaric aciduria, type 1">Glutaric aciduria, type 1</a></span></li><li><span class="TLline"><a href="/medgen/155625" ref="tree=MeSH" title="MedGen record for Glycine encephalopathy">Glycine encephalopathy</a></span><ul><li><span class="TLline"><a href="/medgen/934910" ref="tree=MeSH" title="MedGen record for Atypical glycine encephalopathy">Atypical glycine encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/1781124" ref="tree=MeSH" title="MedGen record for Infantile glycine encephalopathy">Infantile glycine encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/1785446" ref="tree=MeSH" title="MedGen record for Neonatal glycine encephalopathy">Neonatal glycine encephalopathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6639" ref="tree=MeSH" title="MedGen record for Glycogen storage disease">Glycogen storage disease</a></span><ul><li><span class="TLline"><a href="/medgen/209235" ref="tree=MeSH" title="MedGen record for Danon disease">Danon disease</a></span></li><li><span class="TLline"><a href="/medgen/501176" ref="tree=MeSH" title="MedGen record for Fanconi-Bickel syndrome">Fanconi-Bickel syndrome</a></span></li><li><span class="TLline"><a href="/medgen/468559" ref="tree=MeSH" title="MedGen record for Glycogen phosphorylase kinase deficiency">Glycogen phosphorylase kinase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/453209" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to liver phosphorylase kinase deficiency">Glycogen storage disease due to liver phosphorylase kinase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/854172" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IXa1">Glycogen storage disease IXa1</a></span></li><li><span class="TLline"><a href="/medgen/107772" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IXb">Glycogen storage disease IXb</a></span></li><li><span class="TLline"><a href="/medgen/442778" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IXc">Glycogen storage disease IXc</a></span></li><li><span class="TLline"><a href="/medgen/335112" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IXd">Glycogen storage disease IXd</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1805539" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to lactate dehydrogenase deficiency">Glycogen storage disease due to lactate dehydrogenase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/481534" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency">Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency</a></span></li><li><span class="TLline"><a href="/medgen/419152" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency">Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/442873" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to muscle beta-enolase deficiency">Glycogen storage disease due to muscle beta-enolase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/410166" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to phosphoglycerate kinase 1 deficiency">Glycogen storage disease due to phosphoglycerate kinase 1 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/6641" ref="tree=MeSH" title="MedGen record for Glycogen storage disease type III">Glycogen storage disease type III</a></span><ul><li><span class="TLline"><a href="/medgen/369842" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IIIa">Glycogen storage disease IIIa</a></span></li><li><span class="TLline"><a href="/medgen/369843" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IIIb">Glycogen storage disease IIIb</a></span></li><li><span class="TLline"><a href="/medgen/369844" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IIIc">Glycogen storage disease IIIc</a></span></li><li><span class="TLline"><a href="/medgen/369845" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IIId">Glycogen storage disease IIId</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/42261" ref="tree=MeSH" title="MedGen record for Glycogen storage disease type VIII">Glycogen storage disease type VIII</a></span></li><li><span class="TLline"><a href="/medgen/120613" ref="tree=MeSH" title="MedGen record for Glycogen storage disease type X">Glycogen storage disease type X</a></span></li><li><span class="TLline"><a href="/medgen/462104" ref="tree=MeSH" title="MedGen record for Glycogen storage disease XV">Glycogen storage disease XV</a></span></li><li><span class="TLline"><a href="/medgen/6640" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type I">Glycogen storage disease, type I</a></span><ul><li><span class="TLline"><a href="/medgen/78644" ref="tree=MeSH" title="MedGen record for Glucose-6-phosphate transport defect">Glucose-6-phosphate transport defect</a></span></li><li><span class="TLline"><a href="/medgen/415885" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA">Glycogen storage disease due to glucose-6-phosphatase deficiency type IA</a></span></li><li><span class="TLline"><a href="/medgen/87455" ref="tree=MeSH" title="MedGen record for Phosphate transport defect">Phosphate transport defect</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5340" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type II">Glycogen storage disease, type II</a></span><ul><li><span class="TLline"><a href="/medgen/923868" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to acid maltase deficiency, infantile onset">Glycogen storage disease due to acid maltase deficiency, infantile onset</a></span></li><li><span class="TLline"><a href="/medgen/575206" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to acid maltase deficiency, late-onset">Glycogen storage disease due to acid maltase deficiency, late-onset</a></span></li><li><span class="TLline"><a href="/medgen/148252" ref="tree=MeSH" title="MedGen record for Glycogen storage disease type II, infantile">Glycogen storage disease type II, infantile</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6642" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type IV">Glycogen storage disease, type IV</a></span><ul><li><span class="TLline"><a href="/medgen/342338" ref="tree=MeSH" title="MedGen record for Adult polyglucosan body disease">Adult polyglucosan body disease</a></span></li><li><span class="TLline"><a href="/medgen/343525" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form">Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form</a></span></li><li><span class="TLline"><a href="/medgen/1842442" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form">Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form</a></span></li><li><span class="TLline"><a href="/medgen/343524" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form">Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form</a></span></li><li><span class="TLline"><a href="/medgen/343523" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form">Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form</a></span></li><li><span class="TLline"><a href="/medgen/383883" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form">Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form</a></span></li><li><span class="TLline"><a href="/medgen/344701" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form">Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form</a></span></li><li><span class="TLline"><a href="/medgen/1826169" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form">Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5341" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type V">Glycogen storage disease, type V</a></span></li><li><span class="TLline"><a href="/medgen/6643" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type VI">Glycogen storage disease, type VI</a></span></li><li><span class="TLline"><a href="/medgen/82895" ref="tree=MeSH" title="MedGen record for HNSHA due to aldolase A deficiency">HNSHA due to aldolase A deficiency</a></span></li><li><span class="TLline"><a href="/medgen/337919" ref="tree=MeSH" title="MedGen record for Lethal congenital glycogen storage disease of heart">Lethal congenital glycogen storage disease of heart</a></span></li><li><span class="TLline"><a href="/medgen/863042" ref="tree=MeSH" title="MedGen record for Polyglucosan body myopathy type 1">Polyglucosan body myopathy type 1</a></span><ul><li><span class="TLline"><a href="/medgen/865668" ref="tree=MeSH" title="MedGen record for Polyglucosan body myopathy 1 with immunodeficiency">Polyglucosan body myopathy 1 with immunodeficiency</a></span></li><li><span class="TLline"><a href="/medgen/865669" ref="tree=MeSH" title="MedGen record for Polyglucosan body myopathy 1 without immunodeficiency">Polyglucosan body myopathy 1 without immunodeficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/863889" ref="tree=MeSH" title="MedGen record for Polyglucosan body myopathy type 2">Polyglucosan body myopathy type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/811223" ref="tree=MeSH" title="MedGen record for Granulomatosis with polyangiitis">Granulomatosis with polyangiitis</a></span></li><li><span class="TLline"><a href="/medgen/82900" ref="tree=MeSH" title="MedGen record for Gray platelet syndrome">Gray platelet syndrome</a></span></li><li><span class="TLline"><a href="/medgen/357030" ref="tree=MeSH" title="MedGen record for Griscelli syndrome type 2">Griscelli syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/75683" ref="tree=MeSH" title="MedGen record for GTP cyclohydrolase I deficiency">GTP cyclohydrolase I deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/342121" ref="tree=MeSH" title="MedGen record for Dystonia 5">Dystonia 5</a></span></li><li><span class="TLline"><a href="/medgen/988270" ref="tree=MeSH" title="MedGen record for GTP cyclohydrolase I deficiency with hyperphenylalaninemia">GTP cyclohydrolase I deficiency with hyperphenylalaninemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/42316" ref="tree=MeSH" title="MedGen record for Gynatresia">Gynatresia</a></span></li><li><span class="TLline"><a href="/medgen/182961" ref="tree=MeSH" title="MedGen record for Hajdu-Cheney syndrome">Hajdu-Cheney syndrome</a></span></li><li><span class="TLline"><a href="/medgen/5414" ref="tree=MeSH" title="MedGen record for Hallermann-Streiff syndrome">Hallermann-Streiff syndrome</a></span></li><li><span class="TLline"><a href="/medgen/66205" ref="tree=MeSH" title="MedGen record for Hantavirus pulmonary syndrome">Hantavirus pulmonary syndrome</a></span></li><li><span class="TLline"><a href="/medgen/58162" ref="tree=MeSH" title="MedGen record for HELLP syndrome">HELLP syndrome</a></span></li><li><span class="TLline"><a href="/medgen/6158" ref="tree=MeSH" title="MedGen record for Hemophagocytic lymphohistiocytosis">Hemophagocytic lymphohistiocytosis</a></span><ul><li><span class="TLline"><a href="/medgen/78797" ref="tree=MeSH" title="MedGen record for Familial hemophagocytic lymphohistiocytosis">Familial hemophagocytic lymphohistiocytosis</a></span><ul><li><span class="TLline"><a href="/medgen/400366" ref="tree=MeSH" title="MedGen record for Familial hemophagocytic lymphohistiocytosis 2">Familial hemophagocytic lymphohistiocytosis 2</a></span></li><li><span class="TLline"><a href="/medgen/332383" ref="tree=MeSH" title="MedGen record for Familial hemophagocytic lymphohistiocytosis 3">Familial hemophagocytic lymphohistiocytosis 3</a></span></li><li><span class="TLline"><a href="/medgen/350245" ref="tree=MeSH" title="MedGen record for Familial hemophagocytic lymphohistiocytosis 4">Familial hemophagocytic lymphohistiocytosis 4</a></span></li><li><span class="TLline"><a href="/medgen/416514" ref="tree=MeSH" title="MedGen record for Familial hemophagocytic lymphohistiocytosis 5">Familial hemophagocytic lymphohistiocytosis 5</a></span></li><li><span class="TLline"><a href="/medgen/1642840" ref="tree=MeSH" title="MedGen record for Familial hemophagocytic lymphohistiocytosis type 1">Familial hemophagocytic lymphohistiocytosis type 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1661552" ref="tree=MeSH" title="MedGen record for Recurrent Hemophagocytic Lymphohistiocytosis">Recurrent Hemophagocytic Lymphohistiocytosis</a></span></li><li><span class="TLline"><a href="/medgen/1659150" ref="tree=MeSH" title="MedGen record for Refractory Hemophagocytic Lymphohistiocytosis">Refractory Hemophagocytic Lymphohistiocytosis</a></span></li><li><span class="TLline"><a href="/medgen/883550" ref="tree=MeSH" title="MedGen record for Secondary hemophagocytic lymphohistiocytosis">Secondary hemophagocytic lymphohistiocytosis</a></span><ul><li><span class="TLline"><a href="/medgen/1683300" ref="tree=MeSH" title="MedGen record for Acquired hemophagocytic lymphohistiocytosis associated with malignant disease">Acquired hemophagocytic lymphohistiocytosis associated with malignant disease</a></span></li><li><span class="TLline"><a href="/medgen/42405" ref="tree=MeSH" title="MedGen record for Hemophagocytic syndrome associated with an infection">Hemophagocytic syndrome associated with an infection</a></span></li><li><span class="TLline"><a href="/medgen/242753" ref="tree=MeSH" title="MedGen record for Macrophage activation syndrome">Macrophage activation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1863412" ref="tree=MeSH" title="MedGen record for Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18">Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/42408" ref="tree=MeSH" title="MedGen record for Hemorrhagic fever-renal syndrome">Hemorrhagic fever-renal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75700" ref="tree=MeSH" title="MedGen record for Hepatic methionine adenosyltransferase deficiency">Hepatic methionine adenosyltransferase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/66355" ref="tree=MeSH" title="MedGen record for Hereditary acrodermatitis enteropathica">Hereditary acrodermatitis enteropathica</a></span></li><li><span class="TLline"><a href="/medgen/9229" ref="tree=MeSH" title="MedGen record for Hereditary angioneurotic edema">Hereditary angioneurotic edema</a></span><ul><li><span class="TLline"><a href="/medgen/403466" ref="tree=MeSH" title="MedGen record for Hereditary angioedema type 1">Hereditary angioedema type 1</a></span></li><li><span class="TLline"><a href="/medgen/346653" ref="tree=MeSH" title="MedGen record for Hereditary angioedema type 3">Hereditary angioedema type 3</a></span></li><li><span class="TLline"><a href="/medgen/439305" ref="tree=MeSH" title="MedGen record for Hereditary Angioedema Types I and II">Hereditary Angioedema Types I and II</a></span></li><li><span class="TLline"><a href="/medgen/1812520" ref="tree=MeSH" title="MedGen record for Hereditary angioedema with C1Inh deficiency">Hereditary angioedema with C1Inh deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/585077" ref="tree=MeSH" title="MedGen record for Hereditary C1 esterase inhibitor deficiency - dysfunctional factor">Hereditary C1 esterase inhibitor deficiency - dysfunctional factor</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/743231" ref="tree=MeSH" title="MedGen record for Hereditary angioedema with normal C1Inh">Hereditary angioedema with normal C1Inh</a></span><ul><li><span class="TLline"><a href="/medgen/1843147" ref="tree=MeSH" title="MedGen record for Hereditary angioedema with normal C1inh not related to F12 or PLG variant">Hereditary angioedema with normal C1inh not related to F12 or PLG variant</a></span></li><li><span class="TLline"><a href="/medgen/1843266" ref="tree=MeSH" title="MedGen record for PLG-related hereditary angioedema with normal C1inh">PLG-related hereditary angioedema with normal C1inh</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/75781" ref="tree=MeSH" title="MedGen record for Hereditary antithrombin deficiency">Hereditary antithrombin deficiency</a></span></li><li><span class="TLline"><a href="/medgen/57931" ref="tree=MeSH" title="MedGen record for Hereditary coproporphyria">Hereditary coproporphyria</a></span></li><li><span class="TLline"><a href="/medgen/42105" ref="tree=MeSH" title="MedGen record for Hereditary fructosuria">Hereditary fructosuria</a></span></li><li><span class="TLline"><a href="/medgen/140272" ref="tree=MeSH" title="MedGen record for Hereditary hemochromatosis">Hereditary hemochromatosis</a></span><ul><li><span class="TLline"><a href="/medgen/854011" ref="tree=MeSH" title="MedGen record for Hemochromatosis type 1">Hemochromatosis type 1</a></span></li><li><span class="TLline"><a href="/medgen/388114" ref="tree=MeSH" title="MedGen record for Hemochromatosis type 3">Hemochromatosis type 3</a></span></li><li><span class="TLline"><a href="/medgen/340044" ref="tree=MeSH" title="MedGen record for Hemochromatosis type 4">Hemochromatosis type 4</a></span></li><li><span class="TLline"><a href="/medgen/341982" ref="tree=MeSH" title="MedGen record for Hemochromatosis type 5">Hemochromatosis type 5</a></span></li><li><span class="TLline"><a href="/medgen/417706" ref="tree=MeSH" title="MedGen record for HFE-Associated Hereditary Hemochromatosis">HFE-Associated Hereditary Hemochromatosis</a></span></li><li><span class="TLline"><a href="/medgen/82769" ref="tree=MeSH" title="MedGen record for Juvenile hemochromatosis">Juvenile hemochromatosis</a></span><ul><li><span class="TLline"><a href="/medgen/356321" ref="tree=MeSH" title="MedGen record for Hemochromatosis type 2A">Hemochromatosis type 2A</a></span></li><li><span class="TLline"><a href="/medgen/356040" ref="tree=MeSH" title="MedGen record for Hemochromatosis type 2B">Hemochromatosis type 2B</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/6963" ref="tree=MeSH" title="MedGen record for Hereditary hyperbilirubinemia">Hereditary hyperbilirubinemia</a></span><ul><li><span class="TLline"><a href="/medgen/1789261" ref="tree=MeSH" title="MedGen record for Crigler-Najjar syndrome">Crigler-Najjar syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/41346" ref="tree=MeSH" title="MedGen record for Crigler-Najjar syndrome type 1">Crigler-Najjar syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/419718" ref="tree=MeSH" title="MedGen record for Crigler-Najjar syndrome, type II">Crigler-Najjar syndrome, type II</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/7181" ref="tree=MeSH" title="MedGen record for Dubin-Johnson syndrome">Dubin-Johnson syndrome</a></span></li><li><span class="TLline"><a href="/medgen/4891" ref="tree=MeSH" title="MedGen record for Gilbert syndrome">Gilbert syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6915" ref="tree=MeSH" title="MedGen record for Hereditary insensitivity to pain with anhidrosis">Hereditary insensitivity to pain with anhidrosis</a></span></li><li><span class="TLline"><a href="/medgen/472940" ref="tree=MeSH" title="MedGen record for Hereditary orotic aciduria">Hereditary orotic aciduria</a></span></li><li><span class="TLline"><a href="/medgen/5495" ref="tree=MeSH" title="MedGen record for Hereditary persistence of fetal hemoglobin">Hereditary persistence of fetal hemoglobin</a></span></li><li><span class="TLline"><a href="/medgen/5645" ref="tree=MeSH" title="MedGen record for Hereditary sensory and autonomic neuropathy type 1">Hereditary sensory and autonomic neuropathy type 1</a></span><ul><li><span class="TLline"><a href="/medgen/1716450" ref="tree=MeSH" title="MedGen record for Neuropathy, hereditary sensory and autonomic, type 1A">Neuropathy, hereditary sensory and autonomic, type 1A</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/816212" ref="tree=MeSH" title="MedGen record for Hereditary sensory and autonomic neuropathy type 7">Hereditary sensory and autonomic neuropathy type 7</a></span></li><li><span class="TLline"><a href="/medgen/321945" ref="tree=MeSH" title="MedGen record for Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1">Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1</a></span></li><li><span class="TLline"><a href="/medgen/90953" ref="tree=MeSH" title="MedGen record for Heritable pulmonary arterial hypertension">Heritable pulmonary arterial hypertension</a></span><ul><li><span class="TLline"><a href="/medgen/1643124" ref="tree=MeSH" title="MedGen record for Pulmonary hypertension, primary, 1">Pulmonary hypertension, primary, 1</a></span><ul><li><span class="TLline"><a href="/medgen/942109" ref="tree=MeSH" title="MedGen record for Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated">Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/854709" ref="tree=MeSH" title="MedGen record for Pulmonary hypertension, primary, 2">Pulmonary hypertension, primary, 2</a></span></li><li><span class="TLline"><a href="/medgen/815522" ref="tree=MeSH" title="MedGen record for Pulmonary hypertension, primary, 3">Pulmonary hypertension, primary, 3</a></span></li><li><span class="TLline"><a href="/medgen/815528" ref="tree=MeSH" title="MedGen record for Pulmonary hypertension, primary, 4">Pulmonary hypertension, primary, 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/9233" ref="tree=MeSH" title="MedGen record for Herpes gestationis">Herpes gestationis</a></span></li><li><span class="TLline"><a href="/medgen/75780" ref="tree=MeSH" title="MedGen record for High molecular weight kininogen deficiency">High molecular weight kininogen deficiency</a></span></li><li><span class="TLline"><a href="/medgen/138" ref="tree=MeSH" title="MedGen record for Holmes-Adie syndrome">Holmes-Adie syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120653" ref="tree=MeSH" title="MedGen record for Holocarboxylase synthetase deficiency">Holocarboxylase synthetase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/38214" ref="tree=MeSH" title="MedGen record for Holoprosencephaly sequence">Holoprosencephaly sequence</a></span><ul><li><span class="TLline"><a href="/medgen/78541" ref="tree=MeSH" title="MedGen record for Agnathia-otocephaly complex">Agnathia-otocephaly complex</a></span></li><li><span class="TLline"><a href="/medgen/140909" ref="tree=MeSH" title="MedGen record for Alobar holoprosencephaly">Alobar holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/382704" ref="tree=MeSH" title="MedGen record for Chromosome 1q41-q42 deletion syndrome">Chromosome 1q41-q42 deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/452352" ref="tree=MeSH" title="MedGen record for Ethmocephaly">Ethmocephaly</a></span></li><li><span class="TLline"><a href="/medgen/335111" ref="tree=MeSH" title="MedGen record for Hartsfield-Bixler-Demyer syndrome">Hartsfield-Bixler-Demyer syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78617" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 1">Holoprosencephaly 1</a></span></li><li><span class="TLline"><a href="/medgen/322517" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 2">Holoprosencephaly 2</a></span></li><li><span class="TLline"><a href="/medgen/327125" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 3">Holoprosencephaly 3</a></span></li><li><span class="TLline"><a href="/medgen/374488" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 4">Holoprosencephaly 4</a></span></li><li><span class="TLline"><a href="/medgen/355304" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 5">Holoprosencephaly 5</a></span></li><li><span class="TLline"><a href="/medgen/342979" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 6">Holoprosencephaly 6</a></span></li><li><span class="TLline"><a href="/medgen/372134" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 7">Holoprosencephaly 7</a></span></li><li><span class="TLline"><a href="/medgen/322873" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 8">Holoprosencephaly 8</a></span></li><li><span class="TLline"><a href="/medgen/324369" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 9">Holoprosencephaly 9</a></span></li><li><span class="TLline"><a href="/medgen/441620" ref="tree=MeSH" title="MedGen record for Holoprosencephaly caudal dysgenesis">Holoprosencephaly caudal dysgenesis</a></span></li><li><span class="TLline"><a href="/medgen/441187" ref="tree=MeSH" title="MedGen record for Holoprosencephaly deletion 2p">Holoprosencephaly deletion 2p</a></span></li><li><span class="TLline"><a href="/medgen/441188" ref="tree=MeSH" title="MedGen record for Holoprosencephaly ectrodactyly cleft lip palate">Holoprosencephaly ectrodactyly cleft lip palate</a></span></li><li><span class="TLline"><a href="/medgen/441189" ref="tree=MeSH" title="MedGen record for Holoprosencephaly radial heart renal anomalies">Holoprosencephaly radial heart renal anomalies</a></span></li><li><span class="TLline"><a href="/medgen/343987" ref="tree=MeSH" title="MedGen record for Holoprosencephaly, recurrent infections, and monocytosis">Holoprosencephaly, recurrent infections, and monocytosis</a></span></li><li><span class="TLline"><a href="/medgen/330464" ref="tree=MeSH" title="MedGen record for Holoprosencephaly-craniosynostosis syndrome">Holoprosencephaly-craniosynostosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/336097" ref="tree=MeSH" title="MedGen record for Holoprosencephaly-hypokinesia-congenital contractures syndrome">Holoprosencephaly-hypokinesia-congenital contractures syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340382" ref="tree=MeSH" title="MedGen record for Holoprosencephaly-postaxial polydactyly syndrome">Holoprosencephaly-postaxial polydactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/343380" ref="tree=MeSH" title="MedGen record for Lambotte syndrome">Lambotte syndrome</a></span></li><li><span class="TLline"><a href="/medgen/96559" ref="tree=MeSH" title="MedGen record for Lobar holoprosencephaly">Lobar holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/798407" ref="tree=MeSH" title="MedGen record for Midline interhemispheric variant of holoprosencephaly">Midline interhemispheric variant of holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/468539" ref="tree=MeSH" title="MedGen record for NODAL-Related Holoprosencephaly">NODAL-Related Holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/199694" ref="tree=MeSH" title="MedGen record for Semilobar holoprosencephaly">Semilobar holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1843386" ref="tree=MeSH" title="MedGen record for Septopreoptic holoprosencephaly">Septopreoptic holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1708682" ref="tree=MeSH" title="MedGen record for Syntelencephaly">Syntelencephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/120524" ref="tree=MeSH" title="MedGen record for Holt-Oram syndrome">Holt-Oram syndrome</a></span></li><li><span class="TLline"><a href="/medgen/42485" ref="tree=MeSH" title="MedGen record for Homocystinuria">Homocystinuria</a></span><ul><li><span class="TLline"><a href="/medgen/75697" ref="tree=MeSH" title="MedGen record for Arakawa syndrome 2">Arakawa syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/108623" ref="tree=MeSH" title="MedGen record for Hyperhomocysteinemia">Hyperhomocysteinemia</a></span></li><li><span class="TLline"><a href="/medgen/344640" ref="tree=MeSH" title="MedGen record for Methylcobalamin deficiency type cblE">Methylcobalamin deficiency type cblE</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/46123" ref="tree=MeSH" title="MedGen record for Hutchinson-Gilford syndrome">Hutchinson-Gilford syndrome</a></span></li><li><span class="TLline"><a href="/medgen/235180" ref="tree=MeSH" title="MedGen record for Hyaline Membrane Syndrome">Hyaline Membrane Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/5661" ref="tree=MeSH" title="MedGen record for Hydroa vacciniforme">Hydroa vacciniforme</a></span></li><li><span class="TLline"><a href="/medgen/6947" ref="tree=MeSH" title="MedGen record for Hydrops fetalis">Hydrops fetalis</a></span><ul><li><span class="TLline"><a href="/medgen/105328" ref="tree=MeSH" title="MedGen record for Immune hydrops fetalis">Immune hydrops fetalis</a></span></li><li><span class="TLline"><a href="/medgen/105327" ref="tree=MeSH" title="MedGen record for Non-immune hydrops fetalis">Non-immune hydrops fetalis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/43772" ref="tree=MeSH" title="MedGen record for Hymenolepiasis">Hymenolepiasis</a></span></li><li><span class="TLline"><a href="/medgen/1651776" ref="tree=MeSH" title="MedGen record for HyperCKmia">HyperCKmia</a></span></li><li><span class="TLline"><a href="/medgen/7352" ref="tree=MeSH" title="MedGen record for Hyperlipoproteinemia, type I">Hyperlipoproteinemia, type I</a></span></li><li><span class="TLline"><a href="/medgen/82816" ref="tree=MeSH" title="MedGen record for Hyperlysinemia">Hyperlysinemia</a></span></li><li><span class="TLline"><a href="/medgen/79469" ref="tree=MeSH" title="MedGen record for Hyperpipecolatemia">Hyperpipecolatemia</a></span></li><li><span class="TLline"><a href="/medgen/96877" ref="tree=MeSH" title="MedGen record for Hypoalphalipoproteinemia">Hypoalphalipoproteinemia</a></span><ul><li><span class="TLline"><a href="/medgen/9698" ref="tree=MeSH" title="MedGen record for Norum disease">Norum disease</a></span></li><li><span class="TLline"><a href="/medgen/52644" ref="tree=MeSH" title="MedGen record for Tangier disease">Tangier disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57890" ref="tree=MeSH" title="MedGen record for Hypohidrotic X-linked ectodermal dysplasia">Hypohidrotic X-linked ectodermal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/340984" ref="tree=MeSH" title="MedGen record for Hypoparathyroidism-retardation-dysmorphism syndrome">Hypoparathyroidism-retardation-dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/43799" ref="tree=MeSH" title="MedGen record for Hypophosphatasia">Hypophosphatasia</a></span><ul><li><span class="TLline"><a href="/medgen/120636" ref="tree=MeSH" title="MedGen record for Adult hypophosphatasia">Adult hypophosphatasia</a></span></li><li><span class="TLline"><a href="/medgen/65089" ref="tree=MeSH" title="MedGen record for Childhood hypophosphatasia">Childhood hypophosphatasia</a></span></li><li><span class="TLline"><a href="/medgen/75677" ref="tree=MeSH" title="MedGen record for Infantile hypophosphatasia">Infantile hypophosphatasia</a></span></li><li><span class="TLline"><a href="/medgen/326709" ref="tree=MeSH" title="MedGen record for Odontohypophosphatasia">Odontohypophosphatasia</a></span></li><li><span class="TLline"><a href="/medgen/392928" ref="tree=MeSH" title="MedGen record for Perinatal lethal hypophosphatasia">Perinatal lethal hypophosphatasia</a></span></li><li><span class="TLline"><a href="/medgen/1842672" ref="tree=MeSH" title="MedGen record for Prenatal benign hypophosphatasia">Prenatal benign hypophosphatasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/140809" ref="tree=MeSH" title="MedGen record for Hypoplastic enamel-onycholysis-hypohidrosis syndrome">Hypoplastic enamel-onycholysis-hypohidrosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1792034" ref="tree=MeSH" title="MedGen record for Idiopathic Basal Ganglia Calcification">Idiopathic Basal Ganglia Calcification</a></span></li><li><span class="TLline"><a href="/medgen/1637664" ref="tree=MeSH" title="MedGen record for Idiopathic basal ganglia calcification 1">Idiopathic basal ganglia calcification 1</a></span></li><li><span class="TLline"><a href="/medgen/64647" ref="tree=MeSH" title="MedGen record for Idiopathic CD4-positive T-lymphocytopenia">Idiopathic CD4-positive T-lymphocytopenia</a></span></li><li><span class="TLline"><a href="/medgen/155626" ref="tree=MeSH" title="MedGen record for Idiopathic hypersomnia">Idiopathic hypersomnia</a></span></li><li><span class="TLline"><a href="/medgen/419725" ref="tree=MeSH" title="MedGen record for IgAD1">IgAD1</a></span></li><li><span class="TLline"><a href="/medgen/1636193" ref="tree=MeSH" title="MedGen record for Immunodeficiency-centromeric instability-facial anomalies syndrome 1">Immunodeficiency-centromeric instability-facial anomalies syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1997" ref="tree=MeSH" title="MedGen record for Imperforate anus">Imperforate anus</a></span></li><li><span class="TLline"><a href="/medgen/539901" ref="tree=MeSH" title="MedGen record for Imperforate Vagina">Imperforate Vagina</a></span></li><li><span class="TLline"><a href="/medgen/82803" ref="tree=MeSH" title="MedGen record for Inborn glycerol kinase deficiency">Inborn glycerol kinase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/1373978" ref="tree=MeSH" title="MedGen record for Chromosome Xp21 deletion syndrome">Chromosome Xp21 deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/657821" ref="tree=MeSH" title="MedGen record for Isolated glycerol kinase deficiency">Isolated glycerol kinase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/1842796" ref="tree=MeSH" title="MedGen record for Glycerol kinase deficiency, adult form">Glycerol kinase deficiency, adult form</a></span></li><li><span class="TLline"><a href="/medgen/1842281" ref="tree=MeSH" title="MedGen record for Glycerol kinase deficiency, juvenile form">Glycerol kinase deficiency, juvenile form</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/7049" ref="tree=MeSH" title="MedGen record for Incontinentia pigmenti syndrome">Incontinentia pigmenti syndrome</a></span></li><li><span class="TLline"><a href="/medgen/43781" ref="tree=MeSH" title="MedGen record for Infantile cortical hyperostosis">Infantile cortical hyperostosis</a></span></li><li><span class="TLline"><a href="/medgen/82852" ref="tree=MeSH" title="MedGen record for Infantile neuroaxonal dystrophy">Infantile neuroaxonal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/21645" ref="tree=MeSH" title="MedGen record for Infection by larvae of Trichinella">Infection by larvae of Trichinella</a></span></li><li><span class="TLline"><a href="/medgen/14603" ref="tree=MeSH" title="MedGen record for Infection by Paragonimus">Infection by Paragonimus</a></span></li><li><span class="TLline"><a href="/medgen/452450" ref="tree=MeSH" title="MedGen record for Inosine triphosphatase deficiency">Inosine triphosphatase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/409857" ref="tree=MeSH" title="MedGen record for Intellectual disability, autosomal dominant 1">Intellectual disability, autosomal dominant 1</a></span></li><li><span class="TLline"><a href="/medgen/909304" ref="tree=MeSH" title="MedGen record for Intellectual disability, autosomal dominant 39">Intellectual disability, autosomal dominant 39</a></span></li><li><span class="TLline"><a href="/medgen/482674" ref="tree=MeSH" title="MedGen record for Intellectual disability, autosomal recessive 34">Intellectual disability, autosomal recessive 34</a></span></li><li><span class="TLline"><a href="/medgen/444070" ref="tree=MeSH" title="MedGen record for Intellectual disability, X-linked 1">Intellectual disability, X-linked 1</a></span></li><li><span class="TLline"><a href="/medgen/7129" ref="tree=MeSH" title="MedGen record for Intestinal atresia">Intestinal atresia</a></span><ul><li><span class="TLline"><a href="/medgen/78590" ref="tree=MeSH" title="MedGen record for Atresia of small intestine">Atresia of small intestine</a></span><ul><li><span class="TLline"><a href="/medgen/75602" ref="tree=MeSH" title="MedGen record for Duodenal atresia">Duodenal atresia</a></span></li><li><span class="TLline"><a href="/medgen/451021" ref="tree=MeSH" title="MedGen record for Ileal atresia">Ileal atresia</a></span></li><li><span class="TLline"><a href="/medgen/75603" ref="tree=MeSH" title="MedGen record for Jejunal atresia">Jejunal atresia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75605" ref="tree=MeSH" title="MedGen record for Congenital atresia of colon">Congenital atresia of colon</a></span></li><li><span class="TLline"><a href="/medgen/576815" ref="tree=MeSH" title="MedGen record for Congenital atresia of large intestine">Congenital atresia of large intestine</a></span></li><li><span class="TLline"><a href="/medgen/387830" ref="tree=MeSH" title="MedGen record for Multiple small bowel atresias">Multiple small bowel atresias</a></span></li><li><span class="TLline"><a href="/medgen/473199" ref="tree=MeSH" title="MedGen record for Rectal atresia">Rectal atresia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/242751" ref="tree=MeSH" title="MedGen record for Iridocorneal endothelial syndrome">Iridocorneal endothelial syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/107777" ref="tree=MeSH" title="MedGen record for Chandler syndrome">Chandler syndrome</a></span></li><li><span class="TLline"><a href="/medgen/543177" ref="tree=MeSH" title="MedGen record for Essential iris atrophy">Essential iris atrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/19310" ref="tree=MeSH" title="MedGen record for Isolated Pierre-Robin syndrome">Isolated Pierre-Robin syndrome</a></span></li><li><span class="TLline"><a href="/medgen/5929" ref="tree=MeSH" title="MedGen record for Jervell and Lange-Nielsen syndrome">Jervell and Lange-Nielsen syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78548" ref="tree=MeSH" title="MedGen record for Jeune thoracic dystrophy">Jeune thoracic dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1648057" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 1">Asphyxiating thoracic dystrophy 1</a></span></li><li><span class="TLline"><a href="/medgen/370804" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 2">Asphyxiating thoracic dystrophy 2</a></span></li><li><span class="TLline"><a href="/medgen/19860" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 3">Asphyxiating thoracic dystrophy 3</a></span></li><li><span class="TLline"><a href="/medgen/462535" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 4">Asphyxiating thoracic dystrophy 4</a></span></li><li><span class="TLline"><a href="/medgen/482228" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 5">Asphyxiating thoracic dystrophy 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/162897" ref="tree=MeSH" title="MedGen record for Kabuki syndrome">Kabuki syndrome</a></span></li><li><span class="TLline"><a href="/medgen/333282" ref="tree=MeSH" title="MedGen record for Kennedy disease">Kennedy disease</a></span></li><li><span class="TLline"><a href="/medgen/5956" ref="tree=MeSH" title="MedGen record for Keratosis follicularis">Keratosis follicularis</a></span></li><li><span class="TLline"><a href="/medgen/46183" ref="tree=MeSH" title="MedGen record for Kimura disease">Kimura disease</a></span></li><li><span class="TLline"><a href="/medgen/208639" ref="tree=MeSH" title="MedGen record for Kleefstra syndrome 1">Kleefstra syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/61511" ref="tree=MeSH" title="MedGen record for Kleine-Levin syndrome">Kleine-Levin syndrome</a></span></li><li><span class="TLline"><a href="/medgen/9645" ref="tree=MeSH" title="MedGen record for Klippel-Feil syndrome">Klippel-Feil syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/980916" ref="tree=MeSH" title="MedGen record for Isolated Klippel-Feil syndrome">Isolated Klippel-Feil syndrome</a></span></li><li><span class="TLline"><a href="/medgen/894399" ref="tree=MeSH" title="MedGen record for Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome">Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/396196" ref="tree=MeSH" title="MedGen record for Klippel-Feil syndrome 1, autosomal dominant">Klippel-Feil syndrome 1, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/395201" ref="tree=MeSH" title="MedGen record for Klippel-Feil syndrome 2, autosomal recessive">Klippel-Feil syndrome 2, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/462317" ref="tree=MeSH" title="MedGen record for Klippel-Feil syndrome 3, autosomal dominant">Klippel-Feil syndrome 3, autosomal dominant</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/124361" ref="tree=MeSH" title="MedGen record for Kluver-Bucy syndrome">Kluver-Bucy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75559" ref="tree=MeSH" title="MedGen record for Kniest dysplasia">Kniest dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/901443" ref="tree=MeSH" title="MedGen record for KSHV inflammatory cytokine syndrome">KSHV inflammatory cytokine syndrome</a></span></li><li><span class="TLline"><a href="/medgen/155631" ref="tree=MeSH" title="MedGen record for Lafora disease">Lafora disease</a></span><ul><li><span class="TLline"><a href="/medgen/1844054" ref="tree=MeSH" title="MedGen record for Myoclonic epilepsy of Lafora 1">Myoclonic epilepsy of Lafora 1</a></span></li><li><span class="TLline"><a href="/medgen/340621" ref="tree=MeSH" title="MedGen record for Myoclonic epilepsy of Lafora 2">Myoclonic epilepsy of Lafora 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/79465" ref="tree=MeSH" title="MedGen record for Landau-Kleffner syndrome">Landau-Kleffner syndrome</a></span></li><li><span class="TLline"><a href="/medgen/6009" ref="tree=MeSH" title="MedGen record for Langer-Giedion syndrome">Langer-Giedion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/53057" ref="tree=MeSH" title="MedGen record for Lateral medullary syndrome">Lateral medullary syndrome</a></span></li><li><span class="TLline"><a href="/medgen/137922" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis">Leber congenital amaurosis</a></span><ul><li><span class="TLline"><a href="/medgen/419026" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 1">Leber congenital amaurosis 1</a></span></li><li><span class="TLline"><a href="/medgen/348473" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 2">Leber congenital amaurosis 2</a></span></li><li><span class="TLline"><a href="/medgen/346964" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 3">Leber congenital amaurosis 3</a></span></li><li><span class="TLline"><a href="/medgen/346808" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 4">Leber congenital amaurosis 4</a></span></li><li><span class="TLline"><a href="/medgen/388031" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 5">Leber congenital amaurosis 5</a></span></li><li><span class="TLline"><a href="/medgen/344245" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 6">Leber congenital amaurosis 6</a></span></li><li><span class="TLline"><a href="/medgen/462542" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 7">Leber congenital amaurosis 7</a></span></li><li><span class="TLline"><a href="/medgen/462552" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 8">Leber congenital amaurosis 8</a></span></li><li><span class="TLline"><a href="/medgen/325277" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 9">Leber congenital amaurosis 9</a></span></li><li><span class="TLline"><a href="/medgen/346672" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 10">Leber congenital amaurosis 10</a></span></li><li><span class="TLline"><a href="/medgen/326698" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 11">Leber congenital amaurosis 11</a></span></li><li><span class="TLline"><a href="/medgen/347535" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 12">Leber congenital amaurosis 12</a></span></li><li><span class="TLline"><a href="/medgen/382544" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 13">Leber congenital amaurosis 13</a></span></li><li><span class="TLline"><a href="/medgen/442375" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 14">Leber congenital amaurosis 14</a></span></li><li><span class="TLline"><a href="/medgen/462556" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 15">Leber congenital amaurosis 15</a></span></li><li><span class="TLline"><a href="/medgen/481692" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 16">Leber congenital amaurosis 16</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/182973" ref="tree=MeSH" title="MedGen record for Leber optic atrophy">Leber optic atrophy</a></span></li><li><span class="TLline"><a href="/medgen/44095" ref="tree=MeSH" title="MedGen record for Leigh disease">Leigh disease</a></span></li><li><span class="TLline"><a href="/medgen/116044" ref="tree=MeSH" title="MedGen record for Lennox-Gastaut syndrome">Lennox-Gastaut syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82708" ref="tree=MeSH" title="MedGen record for Leprechaunism syndrome">Leprechaunism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/6049" ref="tree=MeSH" title="MedGen record for Leprosy">Leprosy</a></span><ul><li><span class="TLline"><a href="/medgen/288329" ref="tree=MeSH" title="MedGen record for Multibacillary leprosy">Multibacillary leprosy</a></span><ul><li><span class="TLline"><a href="/medgen/7306" ref="tree=MeSH" title="MedGen record for Lepromatous leprosy">Lepromatous leprosy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/288331" ref="tree=MeSH" title="MedGen record for Paucibacillary leprosy">Paucibacillary leprosy</a></span><ul><li><span class="TLline"><a href="/medgen/7305" ref="tree=MeSH" title="MedGen record for Borderline leprosy">Borderline leprosy</a></span></li><li><span class="TLline"><a href="/medgen/6050" ref="tree=MeSH" title="MedGen record for Tuberculoid leprosy">Tuberculoid leprosy</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/7309" ref="tree=MeSH" title="MedGen record for Leptospirosis">Leptospirosis</a></span><ul><li><span class="TLline"><a href="/medgen/21912" ref="tree=MeSH" title="MedGen record for Weil disease">Weil disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75562" ref="tree=MeSH" title="MedGen record for Leri-Weill dyschondrosteosis">Leri-Weill dyschondrosteosis</a></span></li><li><span class="TLline"><a href="/medgen/9721" ref="tree=MeSH" title="MedGen record for Lesch-Nyhan syndrome">Lesch-Nyhan syndrome</a></span></li><li><span class="TLline"><a href="/medgen/6070" ref="tree=MeSH" title="MedGen record for Leukodystrophy">Leukodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/57667" ref="tree=MeSH" title="MedGen record for Adrenoleukodystrophy">Adrenoleukodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/315918" ref="tree=MeSH" title="MedGen record for Adrenomyeloneuropathy">Adrenomyeloneuropathy</a></span></li><li><span class="TLline"><a href="/medgen/1641046" ref="tree=MeSH" title="MedGen record for Cerebral Adrenoleukodystrophy">Cerebral Adrenoleukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1708324" ref="tree=MeSH" title="MedGen record for X-linked cerebral adrenoleukodystrophy">X-linked cerebral adrenoleukodystrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/356995" ref="tree=MeSH" title="MedGen record for Adult-onset autosomal dominant demyelinating leukodystrophy">Adult-onset autosomal dominant demyelinating leukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/97953" ref="tree=MeSH" title="MedGen record for Aicardi Goutieres syndrome">Aicardi Goutieres syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/162912" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 1">Aicardi-Goutieres syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/483677" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 2">Aicardi-Goutieres syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/324389" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 3">Aicardi-Goutieres syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/332084" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 4">Aicardi-Goutieres syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/413116" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 5">Aicardi-Goutieres syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/761287" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 6">Aicardi-Goutieres syndrome 6</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78724" ref="tree=MeSH" title="MedGen record for Alexander disease">Alexander disease</a></span><ul><li><span class="TLline"><a href="/medgen/1820954" ref="tree=MeSH" title="MedGen record for Alexander disease type I">Alexander disease type I</a></span></li><li><span class="TLline"><a href="/medgen/1842714" ref="tree=MeSH" title="MedGen record for Alexander disease type II">Alexander disease type II</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1622324" ref="tree=MeSH" title="MedGen record for Alkaline ceramidase 3 deficiency">Alkaline ceramidase 3 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1798879" ref="tree=MeSH" title="MedGen record for C11orf73-related autosomal recessive hypomyelinating leukodystrophy">C11orf73-related autosomal recessive hypomyelinating leukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/507284" ref="tree=MeSH" title="MedGen record for CADDS">CADDS</a></span></li><li><span class="TLline"><a href="/medgen/542952" ref="tree=MeSH" title="MedGen record for Cavitating leukodystrophy">Cavitating leukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/416646" ref="tree=MeSH" title="MedGen record for Cystic leukoencephalopathy without megalencephaly">Cystic leukoencephalopathy without megalencephaly</a></span></li><li><span class="TLline"><a href="/medgen/220946" ref="tree=MeSH" title="MedGen record for Deficiency of ribose-5-phosphate isomerase">Deficiency of ribose-5-phosphate isomerase</a></span></li><li><span class="TLline"><a href="/medgen/387794" ref="tree=MeSH" title="MedGen record for Dermatoleukodystrophy">Dermatoleukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/479834" ref="tree=MeSH" title="MedGen record for Dysmyelinating leukodystrophy">Dysmyelinating leukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1805057" ref="tree=MeSH" title="MedGen record for Early-onset calcifying leukoencephalopathy-skeletal dysplasia">Early-onset calcifying leukoencephalopathy-skeletal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/44131" ref="tree=MeSH" title="MedGen record for Galactosylceramide beta-galactosidase deficiency">Galactosylceramide beta-galactosidase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/120623" ref="tree=MeSH" title="MedGen record for Adult Krabbe disease">Adult Krabbe disease</a></span></li><li><span class="TLline"><a href="/medgen/148270" ref="tree=MeSH" title="MedGen record for Infantile Krabbe disease">Infantile Krabbe disease</a></span></li><li><span class="TLline"><a href="/medgen/830969" ref="tree=MeSH" title="MedGen record for Late-infantile/juvenile Krabbe disease">Late-infantile/juvenile Krabbe disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/374177" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia 2">Hereditary spastic paraplegia 2</a></span></li><li><span class="TLline"><a href="/medgen/436642" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 6">Hypomyelinating leukodystrophy 6</a></span></li><li><span class="TLline"><a href="/medgen/863760" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 9">Hypomyelinating leukodystrophy 9</a></span></li><li><span class="TLline"><a href="/medgen/905068" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 12">Hypomyelinating leukodystrophy 12</a></span></li><li><span class="TLline"><a href="/medgen/482274" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism">Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism</a></span></li><li><span class="TLline"><a href="/medgen/501134" ref="tree=MeSH" title="MedGen record for Hypomyelination and Congenital Cataract">Hypomyelination and Congenital Cataract</a></span></li><li><span class="TLline"><a href="/medgen/1667792" ref="tree=MeSH" title="MedGen record for Hypomyelination with brain stem and spinal cord involvement and leg spasticity">Hypomyelination with brain stem and spinal cord involvement and leg spasticity</a></span></li><li><span class="TLline"><a href="/medgen/930413" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with bilateral anterior temporal lobe cysts">Leukoencephalopathy with bilateral anterior temporal lobe cysts</a></span></li><li><span class="TLline"><a href="/medgen/370845" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome">Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1638681" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with mild cerebellar ataxia and white matter edema">Leukoencephalopathy with mild cerebellar ataxia and white matter edema</a></span></li><li><span class="TLline"><a href="/medgen/1794139" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy, diffuse hereditary, with spheroids 1">Leukoencephalopathy, diffuse hereditary, with spheroids 1</a></span></li><li><span class="TLline"><a href="/medgen/1645614" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome">Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347006" ref="tree=MeSH" title="MedGen record for Megalencephalic leukoencephalopathy with subcortical cysts">Megalencephalic leukoencephalopathy with subcortical cysts</a></span><ul><li><span class="TLline"><a href="/medgen/1826136" ref="tree=MeSH" title="MedGen record for Megalencephalic leukoencephalopathy with subcortical cysts 1">Megalencephalic leukoencephalopathy with subcortical cysts 1</a></span></li><li><span class="TLline"><a href="/medgen/462705" ref="tree=MeSH" title="MedGen record for Megalencephalic leukoencephalopathy with subcortical cysts 2A">Megalencephalic leukoencephalopathy with subcortical cysts 2A</a></span></li><li><span class="TLline"><a href="/medgen/462706" ref="tree=MeSH" title="MedGen record for Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability">Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6071" ref="tree=MeSH" title="MedGen record for Metachromatic leukodystrophy">Metachromatic leukodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/199625" ref="tree=MeSH" title="MedGen record for Metachromatic leukodystrophy, adult type">Metachromatic leukodystrophy, adult type</a></span></li><li><span class="TLline"><a href="/medgen/155528" ref="tree=MeSH" title="MedGen record for Metachromatic leukodystrophy, juvenile type">Metachromatic leukodystrophy, juvenile type</a></span></li><li><span class="TLline"><a href="/medgen/155529" ref="tree=MeSH" title="MedGen record for Metachromatic leukodystrophy, late infantile form">Metachromatic leukodystrophy, late infantile form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/899010" ref="tree=MeSH" title="MedGen record for Multiple mitochondrial dysfunctions syndrome 4">Multiple mitochondrial dysfunctions syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/1684142" ref="tree=MeSH" title="MedGen record for Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination">Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination</a></span></li><li><span class="TLline"><a href="/medgen/1806079" ref="tree=MeSH" title="MedGen record for Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy">Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/373160" ref="tree=MeSH" title="MedGen record for PCWH syndrome">PCWH syndrome</a></span></li><li><span class="TLline"><a href="/medgen/894734" ref="tree=MeSH" title="MedGen record for Pelizaeus Merzbacher like disease">Pelizaeus Merzbacher like disease</a></span><ul><li><span class="TLline"><a href="/medgen/325157" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 2">Hypomyelinating leukodystrophy 2</a></span></li><li><span class="TLline"><a href="/medgen/342403" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 3">Hypomyelinating leukodystrophy 3</a></span></li><li><span class="TLline"><a href="/medgen/383026" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 4">Hypomyelinating leukodystrophy 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/61440" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease">Pelizaeus-Merzbacher disease</a></span><ul><li><span class="TLline"><a href="/medgen/1740046" ref="tree=MeSH" title="MedGen record for Null syndrome">Null syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1753109" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease in female carriers">Pelizaeus-Merzbacher disease in female carriers</a></span></li><li><span class="TLline"><a href="/medgen/155959" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease, classic form">Pelizaeus-Merzbacher disease, classic form</a></span></li><li><span class="TLline"><a href="/medgen/1842817" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease, connatal form">Pelizaeus-Merzbacher disease, connatal form</a></span></li><li><span class="TLline"><a href="/medgen/199764" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease, transitional form">Pelizaeus-Merzbacher disease, transitional form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/330407" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder">Peroxisome biogenesis disorder</a></span><ul><li><span class="TLline"><a href="/medgen/1648474" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 1A (Zellweger)">Peroxisome biogenesis disorder 1A (Zellweger)</a></span></li><li><span class="TLline"><a href="/medgen/1653860" ref="tree=MeSH" title="MedGen record for Peroxisome Biogenesis Disorder 1B">Peroxisome Biogenesis Disorder 1B</a></span></li><li><span class="TLline"><a href="/medgen/763187" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 2A (Zellweger)">Peroxisome biogenesis disorder 2A (Zellweger)</a></span></li><li><span class="TLline"><a href="/medgen/763148" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 2B">Peroxisome biogenesis disorder 2B</a></span></li><li><span class="TLline"><a href="/medgen/766843" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 3A (Zellweger)">Peroxisome biogenesis disorder 3A (Zellweger)</a></span></li><li><span class="TLline"><a href="/medgen/766850" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 4A (Zellweger)">Peroxisome biogenesis disorder 4A (Zellweger)</a></span></li><li><span class="TLline"><a href="/medgen/766851" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 4B">Peroxisome biogenesis disorder 4B</a></span></li><li><span class="TLline"><a href="/medgen/766854" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 5A (Zellweger)">Peroxisome biogenesis disorder 5A (Zellweger)</a></span></li><li><span class="TLline"><a href="/medgen/762202" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 5B">Peroxisome biogenesis disorder 5B</a></span></li><li><span class="TLline"><a href="/medgen/766861" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 6A (Zellweger)">Peroxisome biogenesis disorder 6A (Zellweger)</a></span></li><li><span class="TLline"><a href="/medgen/766862" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 6B">Peroxisome biogenesis disorder 6B</a></span></li><li><span class="TLline"><a href="/medgen/854881" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 7A (Zellweger)">Peroxisome biogenesis disorder 7A (Zellweger)</a></span></li><li><span class="TLline"><a href="/medgen/766865" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 7B">Peroxisome biogenesis disorder 7B</a></span></li><li><span class="TLline"><a href="/medgen/766873" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 8A (Zellweger)">Peroxisome biogenesis disorder 8A (Zellweger)</a></span></li><li><span class="TLline"><a href="/medgen/766874" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 8B">Peroxisome biogenesis disorder 8B</a></span></li><li><span class="TLline"><a href="/medgen/763607" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder type 3B">Peroxisome biogenesis disorder type 3B</a></span></li><li><span class="TLline"><a href="/medgen/772498" ref="tree=MeSH" title="MedGen record for Peroxisome Biogenesis Disorders in the Zellweger Spectrum">Peroxisome Biogenesis Disorders in the Zellweger Spectrum</a></span></li><li><span class="TLline"><a href="/medgen/21958" ref="tree=MeSH" title="MedGen record for Zellweger spectrum disorders">Zellweger spectrum disorders</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/11161" ref="tree=MeSH" title="MedGen record for Phytanic acid storage disease">Phytanic acid storage disease</a></span></li><li><span class="TLline"><a href="/medgen/1803536" ref="tree=MeSH" title="MedGen record for POLR3-related leukodystrophy">POLR3-related leukodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/897960" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 11">Hypomyelinating leukodystrophy 11</a></span></li><li><span class="TLline"><a href="/medgen/1842862" ref="tree=MeSH" title="MedGen record for Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome">Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1639554" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome">Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome</a></span></li><li><span class="TLline"><a href="/medgen/502456" ref="tree=MeSH" title="MedGen record for Odontoleukodystrophy">Odontoleukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1842823" ref="tree=MeSH" title="MedGen record for Tremor-ataxia-central hypomyelination syndrome">Tremor-ataxia-central hypomyelination syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/387795" ref="tree=MeSH" title="MedGen record for Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly">Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly</a></span></li><li><span class="TLline"><a href="/medgen/930509" ref="tree=MeSH" title="MedGen record for Progressive cavitating leukoencephalopathy">Progressive cavitating leukoencephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/346552" ref="tree=MeSH" title="MedGen record for Progressive encephalopathy with leukodystrophy due to DECR deficiency">Progressive encephalopathy with leukodystrophy due to DECR deficiency</a></span></li><li><span class="TLline"><a href="/medgen/907744" ref="tree=MeSH" title="MedGen record for Ravine syndrome">Ravine syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1382553" ref="tree=MeSH" title="MedGen record for Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy">Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/335350" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia, Bieganski type">Spondyloepimetaphyseal dysplasia, Bieganski type</a></span></li><li><span class="TLline"><a href="/medgen/1780157" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis">Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis</a></span></li><li><span class="TLline"><a href="/medgen/61565" ref="tree=MeSH" title="MedGen record for Spongy degeneration of central nervous system">Spongy degeneration of central nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/865564" ref="tree=MeSH" title="MedGen record for Mild Canavan disease">Mild Canavan disease</a></span></li><li><span class="TLline"><a href="/medgen/1826002" ref="tree=MeSH" title="MedGen record for Severe Canavan disease">Severe Canavan disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/462340" ref="tree=MeSH" title="MedGen record for Sterol carrier protein 2 deficiency">Sterol carrier protein 2 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/347037" ref="tree=MeSH" title="MedGen record for Vanishing white matter disease">Vanishing white matter disease</a></span><ul><li><span class="TLline"><a href="/medgen/1842419" ref="tree=MeSH" title="MedGen record for Congenital or early infantile CACH syndrome">Congenital or early infantile CACH syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1826173" ref="tree=MeSH" title="MedGen record for Juvenile or adult CACH syndrome">Juvenile or adult CACH syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1826172" ref="tree=MeSH" title="MedGen record for Late infantile CACH syndrome">Late infantile CACH syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1830482" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with vanishing white matter 1">Leukoencephalopathy with vanishing white matter 1</a></span></li><li><span class="TLline"><a href="/medgen/1841040" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with vanishing white matter 2">Leukoencephalopathy with vanishing white matter 2</a></span></li><li><span class="TLline"><a href="/medgen/1841041" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with vanishing white matter 3">Leukoencephalopathy with vanishing white matter 3</a></span></li><li><span class="TLline"><a href="/medgen/1841042" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with vanishing white matter 4">Leukoencephalopathy with vanishing white matter 4</a></span></li><li><span class="TLline"><a href="/medgen/1830483" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with vanishing white matter 5">Leukoencephalopathy with vanishing white matter 5</a></span></li><li><span class="TLline"><a href="/medgen/341114" ref="tree=MeSH" title="MedGen record for Ovarioleukodystrophy">Ovarioleukodystrophy</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/67439" ref="tree=MeSH" title="MedGen record for Liddle syndrome">Liddle syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340886" ref="tree=MeSH" title="MedGen record for Lipase deficiency, combined">Lipase deficiency, combined</a></span></li><li><span class="TLline"><a href="/medgen/6112" ref="tree=MeSH" title="MedGen record for Lipid proteinosis">Lipid proteinosis</a></span></li><li><span class="TLline"><a href="/medgen/1757" ref="tree=MeSH" title="MedGen record for Lipomatosis dolorosa">Lipomatosis dolorosa</a></span></li><li><span class="TLline"><a href="/medgen/78604" ref="tree=MeSH" title="MedGen record for Lissencephaly">Lissencephaly</a></span><ul><li><span class="TLline"><a href="/medgen/1693266" ref="tree=MeSH" title="MedGen record for 2-3-layered lissencephaly">2-3-layered lissencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1696793" ref="tree=MeSH" title="MedGen record for 6-layered lissencephaly">6-layered lissencephaly</a></span></li><li><span class="TLline"><a href="/medgen/361827" ref="tree=MeSH" title="MedGen record for Agyria">Agyria</a></span></li><li><span class="TLline"><a href="/medgen/98463" ref="tree=MeSH" title="MedGen record for Classic lissencephaly">Classic lissencephaly</a></span><ul><li><span class="TLline"><a href="/medgen/895946" ref="tree=MeSH" title="MedGen record for Isolated lissencephaly type 1 without known genetic defect">Isolated lissencephaly type 1 without known genetic defect</a></span></li><li><span class="TLline"><a href="/medgen/1681109" ref="tree=MeSH" title="MedGen record for Lissencephaly 9 with complex brainstem malformation">Lissencephaly 9 with complex brainstem malformation</a></span></li><li><span class="TLline"><a href="/medgen/1657090" ref="tree=MeSH" title="MedGen record for Lissencephaly due to LIS1 mutation">Lissencephaly due to LIS1 mutation</a></span></li><li><span class="TLline"><a href="/medgen/1644310" ref="tree=MeSH" title="MedGen record for Lissencephaly type 1 due to doublecortin gene mutation">Lissencephaly type 1 due to doublecortin gene mutation</a></span></li><li><span class="TLline"><a href="/medgen/78538" ref="tree=MeSH" title="MedGen record for Miller Dieker syndrome">Miller Dieker syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/408200" ref="tree=MeSH" title="MedGen record for Classical Lissencephalies and Subcortical Band Heterotopias">Classical Lissencephalies and Subcortical Band Heterotopias</a></span></li><li><span class="TLline"><a href="/medgen/96562" ref="tree=MeSH" title="MedGen record for Cobblestone lissencephaly">Cobblestone lissencephaly</a></span><ul><li><span class="TLline"><a href="/medgen/767571" ref="tree=MeSH" title="MedGen record for Cobblestone lissencephaly without muscular or ocular involvement">Cobblestone lissencephaly without muscular or ocular involvement</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/344450" ref="tree=MeSH" title="MedGen record for Focal lissencephaly">Focal lissencephaly</a></span></li><li><span class="TLline"><a href="/medgen/930822" ref="tree=MeSH" title="MedGen record for Lissencephaly due to TUBA1A mutation">Lissencephaly due to TUBA1A mutation</a></span></li><li><span class="TLline"><a href="/medgen/369910" ref="tree=MeSH" title="MedGen record for Lissencephaly type 3">Lissencephaly type 3</a></span><ul><li><span class="TLline"><a href="/medgen/930924" ref="tree=MeSH" title="MedGen record for Lissencephaly type 3-familial fetal akinesia sequence syndrome">Lissencephaly type 3-familial fetal akinesia sequence syndrome</a></span></li><li><span class="TLline"><a href="/medgen/371379" ref="tree=MeSH" title="MedGen record for Lissencephaly type 3-metacarpal bone dysplasia syndrome">Lissencephaly type 3-metacarpal bone dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78537" ref="tree=MeSH" title="MedGen record for Neu-Laxova syndrome">Neu-Laxova syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/120579" ref="tree=MeSH" title="MedGen record for Macrogyria">Macrogyria</a></span><ul><li><span class="TLline"><a href="/medgen/1690786" ref="tree=MeSH" title="MedGen record for Pachygyria with 5-10 mm cortical thickness">Pachygyria with 5-10 mm cortical thickness</a></span></li><li><span class="TLline"><a href="/medgen/1689044" ref="tree=MeSH" title="MedGen record for Thick pachygyria">Thick pachygyria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/365439" ref="tree=MeSH" title="MedGen record for Microlissencephaly">Microlissencephaly</a></span><ul><li><span class="TLline"><a href="/medgen/163213" ref="tree=MeSH" title="MedGen record for Norman-Roberts syndrome">Norman-Roberts syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1703812" ref="tree=MeSH" title="MedGen record for Unlayered lissencephaly">Unlayered lissencephaly</a></span></li><li><span class="TLline"><a href="/medgen/375832" ref="tree=MeSH" title="MedGen record for X-linked lissencephaly with abnormal genitalia">X-linked lissencephaly with abnormal genitalia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/395827" ref="tree=MeSH" title="MedGen record for Loeys-Dietz syndrome">Loeys-Dietz syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/462437" ref="tree=MeSH" title="MedGen record for Aneurysm-osteoarthritis syndrome">Aneurysm-osteoarthritis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1646567" ref="tree=MeSH" title="MedGen record for Loeys-Dietz syndrome 1">Loeys-Dietz syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/382398" ref="tree=MeSH" title="MedGen record for Loeys-Dietz syndrome 2">Loeys-Dietz syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/766676" ref="tree=MeSH" title="MedGen record for Loeys-Dietz syndrome 4">Loeys-Dietz syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/395828" ref="tree=MeSH" title="MedGen record for Loeys-Dietz Syndrome Type 1">Loeys-Dietz Syndrome Type 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/778253" ref="tree=MeSH" title="MedGen record for Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency">Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/65087" ref="tree=MeSH" title="MedGen record for Long chain acyl-CoA dehydrogenase deficiency">Long chain acyl-CoA dehydrogenase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/18145" ref="tree=MeSH" title="MedGen record for Lowe syndrome">Lowe syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75704" ref="tree=MeSH" title="MedGen record for Lysinuric protein intolerance">Lysinuric protein intolerance</a></span></li><li><span class="TLline"><a href="/medgen/43098" ref="tree=MeSH" title="MedGen record for Lysosomal storage disease">Lysosomal storage disease</a></span><ul><li><span class="TLline"><a href="/medgen/78674" ref="tree=MeSH" title="MedGen record for Acid phosphatase deficiency">Acid phosphatase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/78649" ref="tree=MeSH" title="MedGen record for Aspartylglucosaminuria">Aspartylglucosaminuria</a></span></li><li><span class="TLline"><a href="/medgen/40266" ref="tree=MeSH" title="MedGen record for Cholesteryl ester storage disease">Cholesteryl ester storage disease</a></span><ul><li><span class="TLline"><a href="/medgen/53088" ref="tree=MeSH" title="MedGen record for Wolman disease">Wolman disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82779" ref="tree=MeSH" title="MedGen record for Combined deficiency of sialidase AND beta galactosidase">Combined deficiency of sialidase AND beta galactosidase</a></span></li><li><span class="TLline"><a href="/medgen/1384792" ref="tree=MeSH" title="MedGen record for Cystinosis">Cystinosis</a></span><ul><li><span class="TLline"><a href="/medgen/760976" ref="tree=MeSH" title="MedGen record for Infantile nephropathic cystinosis">Infantile nephropathic cystinosis</a></span></li><li><span class="TLline"><a href="/medgen/75701" ref="tree=MeSH" title="MedGen record for Juvenile nephropathic cystinosis">Juvenile nephropathic cystinosis</a></span></li><li><span class="TLline"><a href="/medgen/419735" ref="tree=MeSH" title="MedGen record for Nephropathic cystinosis">Nephropathic cystinosis</a></span></li><li><span class="TLline"><a href="/medgen/419313" ref="tree=MeSH" title="MedGen record for Ocular cystinosis">Ocular cystinosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8083" ref="tree=MeSH" title="MedGen record for Fabry disease">Fabry disease</a></span></li><li><span class="TLline"><a href="/medgen/5288" ref="tree=MeSH" title="MedGen record for Fucosidosis">Fucosidosis</a></span></li><li><span class="TLline"><a href="/medgen/42164" ref="tree=MeSH" title="MedGen record for Gaucher disease">Gaucher disease</a></span><ul><li><span class="TLline"><a href="/medgen/350479" ref="tree=MeSH" title="MedGen record for Gaucher disease due to saposin C deficiency">Gaucher disease due to saposin C deficiency</a></span></li><li><span class="TLline"><a href="/medgen/374996" ref="tree=MeSH" title="MedGen record for Gaucher disease perinatal lethal">Gaucher disease perinatal lethal</a></span></li><li><span class="TLline"><a href="/medgen/383926" ref="tree=MeSH" title="MedGen record for Gaucher disease type 3A">Gaucher disease type 3A</a></span></li><li><span class="TLline"><a href="/medgen/344746" ref="tree=MeSH" title="MedGen record for Gaucher disease type 3B">Gaucher disease type 3B</a></span></li><li><span class="TLline"><a href="/medgen/409531" ref="tree=MeSH" title="MedGen record for Gaucher disease type I">Gaucher disease type I</a></span></li><li><span class="TLline"><a href="/medgen/78652" ref="tree=MeSH" title="MedGen record for Gaucher disease type II">Gaucher disease type II</a></span></li><li><span class="TLline"><a href="/medgen/78653" ref="tree=MeSH" title="MedGen record for Gaucher disease type III">Gaucher disease type III</a></span></li><li><span class="TLline"><a href="/medgen/383927" ref="tree=MeSH" title="MedGen record for Gaucher disease, Norrbottnian type">Gaucher disease, Norrbottnian type</a></span></li><li><span class="TLline"><a href="/medgen/341563" ref="tree=MeSH" title="MedGen record for Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome">Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/43107" ref="tree=MeSH" title="MedGen record for GM1 gangliosidosis">GM1 gangliosidosis</a></span><ul><li><span class="TLline"><a href="/medgen/120625" ref="tree=MeSH" title="MedGen record for GM1 gangliosidosis type 2">GM1 gangliosidosis type 2</a></span></li><li><span class="TLline"><a href="/medgen/78655" ref="tree=MeSH" title="MedGen record for GM1 gangliosidosis type 3">GM1 gangliosidosis type 3</a></span></li><li><span class="TLline"><a href="/medgen/75665" ref="tree=MeSH" title="MedGen record for Infantile GM1 gangliosidosis">Infantile GM1 gangliosidosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/462251" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia 48">Hereditary spastic paraplegia 48</a></span></li><li><span class="TLline"><a href="/medgen/148380" ref="tree=MeSH" title="MedGen record for Lysosomal Storage Diseases, Nervous System">Lysosomal Storage Diseases, Nervous System</a></span><ul><li><span class="TLline"><a href="/medgen/7731" ref="tree=MeSH" title="MedGen record for Mucolipidosis">Mucolipidosis</a></span></li><li><span class="TLline"><a href="/medgen/137980" ref="tree=MeSH" title="MedGen record for Sialuria">Sialuria</a></span></li><li><span class="TLline"><a href="/medgen/52453" ref="tree=MeSH" title="MedGen record for Sphingolipidosis">Sphingolipidosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/226231" ref="tree=MeSH" title="MedGen record for Mannosidosis">Mannosidosis</a></span><ul><li><span class="TLline"><a href="/medgen/888408" ref="tree=MeSH" title="MedGen record for Beta-D-mannosidosis">Beta-D-mannosidosis</a></span></li><li><span class="TLline"><a href="/medgen/7467" ref="tree=MeSH" title="MedGen record for Deficiency of alpha-mannosidase">Deficiency of alpha-mannosidase</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/7733" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis">Mucopolysaccharidosis</a></span><ul><li><span class="TLline"><a href="/medgen/226942" ref="tree=MeSH" title="MedGen record for Deficiency of hyaluronoglucosaminidase">Deficiency of hyaluronoglucosaminidase</a></span></li><li><span class="TLline"><a href="/medgen/44513" ref="tree=MeSH" title="MedGen record for Morquio syndrome">Morquio syndrome</a></span></li><li><span class="TLline"><a href="/medgen/44171" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis type 1">Mucopolysaccharidosis type 1</a></span></li><li><span class="TLline"><a href="/medgen/44514" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis type 6">Mucopolysaccharidosis type 6</a></span></li><li><span class="TLline"><a href="/medgen/43108" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis type 7">Mucopolysaccharidosis type 7</a></span></li><li><span class="TLline"><a href="/medgen/7734" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-II">Mucopolysaccharidosis, MPS-II</a></span></li><li><span class="TLline"><a href="/medgen/6452" ref="tree=MeSH" title="MedGen record for Sanfilippo syndrome">Sanfilippo syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75664" ref="tree=MeSH" title="MedGen record for Multiple sulfatase deficiency">Multiple sulfatase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/116061" ref="tree=MeSH" title="MedGen record for Pyknodysostosis">Pyknodysostosis</a></span></li><li><span class="TLline"><a href="/medgen/11313" ref="tree=MeSH" title="MedGen record for Sandhoff disease">Sandhoff disease</a></span><ul><li><span class="TLline"><a href="/medgen/148319" ref="tree=MeSH" title="MedGen record for Sandhoff disease, adult form">Sandhoff disease, adult form</a></span></li><li><span class="TLline"><a href="/medgen/199669" ref="tree=MeSH" title="MedGen record for Sandhoff disease, infantile form">Sandhoff disease, infantile form</a></span></li><li><span class="TLline"><a href="/medgen/148320" ref="tree=MeSH" title="MedGen record for Sandhoff disease, juvenile form">Sandhoff disease, juvenile form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10348" ref="tree=MeSH" title="MedGen record for Sphingomyelin/cholesterol lipidosis">Sphingomyelin/cholesterol lipidosis</a></span><ul><li><span class="TLline"><a href="/medgen/1800807" ref="tree=MeSH" title="MedGen record for Acid sphingomyelinase deficiency">Acid sphingomyelinase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1842316" ref="tree=MeSH" title="MedGen record for Chronic neurovisceral acid sphingomyelinase deficiency">Chronic neurovisceral acid sphingomyelinase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/82781" ref="tree=MeSH" title="MedGen record for Niemann-Pick disease type E">Niemann-Pick disease type E</a></span></li><li><span class="TLline"><a href="/medgen/78650" ref="tree=MeSH" title="MedGen record for Niemann-Pick disease, type A">Niemann-Pick disease, type A</a></span></li><li><span class="TLline"><a href="/medgen/78651" ref="tree=MeSH" title="MedGen record for Niemann-Pick disease, type B">Niemann-Pick disease, type B</a></span></li><li><span class="TLline"><a href="/medgen/67399" ref="tree=MeSH" title="MedGen record for Niemann-Pick disease, type C">Niemann-Pick disease, type C</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78657" ref="tree=MeSH" title="MedGen record for Tay-Sachs disease, variant AB">Tay-Sachs disease, variant AB</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1704278" ref="tree=MeSH" title="MedGen record for Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss">Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss</a></span><ul><li><span class="TLline"><a href="/medgen/97986" ref="tree=MeSH" title="MedGen record for Epstein Syndrome">Epstein Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/96041" ref="tree=MeSH" title="MedGen record for Fechtner Syndrome">Fechtner Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/87410" ref="tree=MeSH" title="MedGen record for May-Hegglin Anomaly">May-Hegglin Anomaly</a></span></li><li><span class="TLline"><a href="/medgen/344306" ref="tree=MeSH" title="MedGen record for MYH9-related disorder">MYH9-related disorder</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/44257" ref="tree=MeSH" title="MedGen record for Malakoplakia">Malakoplakia</a></span></li><li><span class="TLline"><a href="/medgen/364975" ref="tree=MeSH" title="MedGen record for Malformation of cortical development">Malformation of cortical development</a></span><ul><li><span class="TLline"><a href="/medgen/324748" ref="tree=MeSH" title="MedGen record for Abnormality of neuronal migration">Abnormality of neuronal migration</a></span><ul><li><span class="TLline"><a href="/medgen/452349" ref="tree=MeSH" title="MedGen record for Gray matter heterotopia">Gray matter heterotopia</a></span></li><li><span class="TLline"><a href="/medgen/358387" ref="tree=MeSH" title="MedGen record for Periventricular nodular heterotopia">Periventricular nodular heterotopia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/827134" ref="tree=MeSH" title="MedGen record for Malformations of Cortical Development, Group I">Malformations of Cortical Development, Group I</a></span><ul><li><span class="TLline"><a href="/medgen/44422" ref="tree=MeSH" title="MedGen record for Isolated congenital microcephaly">Isolated congenital microcephaly</a></span></li><li><span class="TLline"><a href="/medgen/65141" ref="tree=MeSH" title="MedGen record for Megalencephaly">Megalencephaly</a></span></li><li><span class="TLline"><a href="/medgen/22518" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis syndrome">Tuberous sclerosis syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/827133" ref="tree=MeSH" title="MedGen record for Malformations of Cortical Development, Group III">Malformations of Cortical Development, Group III</a></span><ul><li><span class="TLline"><a href="/medgen/78605" ref="tree=MeSH" title="MedGen record for Polymicrogyria">Polymicrogyria</a></span></li><li><span class="TLline"><a href="/medgen/901502" ref="tree=MeSH" title="MedGen record for Porencephaly">Porencephaly</a></span></li><li><span class="TLline"><a href="/medgen/78606" ref="tree=MeSH" title="MedGen record for Schizencephaly">Schizencephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/336288" ref="tree=MeSH" title="MedGen record for Subcortical band heterotopia">Subcortical band heterotopia</a></span><ul><li><span class="TLline"><a href="/medgen/1703799" ref="tree=MeSH" title="MedGen record for Anterior predominant subcortical band heterotopia">Anterior predominant subcortical band heterotopia</a></span></li><li><span class="TLline"><a href="/medgen/1689721" ref="tree=MeSH" title="MedGen record for Diffuse subcortical band heterotopia">Diffuse subcortical band heterotopia</a></span></li><li><span class="TLline"><a href="/medgen/1691332" ref="tree=MeSH" title="MedGen record for Posterior predominant subcortical band heterotopia">Posterior predominant subcortical band heterotopia</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/113138" ref="tree=MeSH" title="MedGen record for Malignant atrophic papulosis">Malignant atrophic papulosis</a></span></li><li><span class="TLline"><a href="/medgen/9867" ref="tree=MeSH" title="MedGen record for Malignant hyperthermia of anesthesia">Malignant hyperthermia of anesthesia</a></span></li><li><span class="TLline"><a href="/medgen/782160" ref="tree=MeSH" title="MedGen record for Malignant migrating partial seizures of infancy">Malignant migrating partial seizures of infancy</a></span></li><li><span class="TLline"><a href="/medgen/44265" ref="tree=MeSH" title="MedGen record for Mallory-Weiss syndrome">Mallory-Weiss syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1757618" ref="tree=MeSH" title="MedGen record for Mandibuloacral dysplasia with type A lipodystrophy">Mandibuloacral dysplasia with type A lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/6213" ref="tree=MeSH" title="MedGen record for Mansonelliasis">Mansonelliasis</a></span></li><li><span class="TLline"><a href="/medgen/6217" ref="tree=MeSH" title="MedGen record for Maple syrup urine disease">Maple syrup urine disease</a></span><ul><li><span class="TLline"><a href="/medgen/78689" ref="tree=MeSH" title="MedGen record for Classical maple syrup urine disease">Classical maple syrup urine disease</a></span></li><li><span class="TLline"><a href="/medgen/301223" ref="tree=MeSH" title="MedGen record for Intermediate maple syrup urine disease">Intermediate maple syrup urine disease</a></span></li><li><span class="TLline"><a href="/medgen/78690" ref="tree=MeSH" title="MedGen record for Intermittent maple syrup urine disease">Intermittent maple syrup urine disease</a></span></li><li><span class="TLline"><a href="/medgen/343337" ref="tree=MeSH" title="MedGen record for Maple syrup urine disease type 2">Maple syrup urine disease type 2</a></span></li><li><span class="TLline"><a href="/medgen/383668" ref="tree=MeSH" title="MedGen record for Maple syrup urine disease type 1A">Maple syrup urine disease type 1A</a></span></li><li><span class="TLline"><a href="/medgen/443951" ref="tree=MeSH" title="MedGen record for Maple syrup urine disease type 1B">Maple syrup urine disease type 1B</a></span></li><li><span class="TLline"><a href="/medgen/199627" ref="tree=MeSH" title="MedGen record for Thiamine-responsive maple syrup urine disease">Thiamine-responsive maple syrup urine disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/9888" ref="tree=MeSH" title="MedGen record for Marburg virus disease">Marburg virus disease</a></span></li><li><span class="TLline"><a href="/medgen/44287" ref="tree=MeSH" title="MedGen record for Marfan syndrome">Marfan syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/443966" ref="tree=MeSH" title="MedGen record for Loeys-Dietz Syndrome Type 2">Loeys-Dietz Syndrome Type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82694" ref="tree=MeSH" title="MedGen record for Marshall syndrome">Marshall syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162894" ref="tree=MeSH" title="MedGen record for MASA syndrome">MASA syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120513" ref="tree=MeSH" title="MedGen record for Meckel-Gruber syndrome">Meckel-Gruber syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/811346" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 1">Meckel syndrome, type 1</a></span></li><li><span class="TLline"><a href="/medgen/351059" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 2">Meckel syndrome, type 2</a></span></li><li><span class="TLline"><a href="/medgen/335402" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 3">Meckel syndrome, type 3</a></span></li><li><span class="TLline"><a href="/medgen/410003" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 4">Meckel syndrome, type 4</a></span></li><li><span class="TLline"><a href="/medgen/409740" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 5">Meckel syndrome, type 5</a></span></li><li><span class="TLline"><a href="/medgen/382942" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 6">Meckel syndrome, type 6</a></span></li><li><span class="TLline"><a href="/medgen/854220" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 8">Meckel syndrome, type 8</a></span></li><li><span class="TLline"><a href="/medgen/481785" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 9">Meckel syndrome, type 9</a></span></li><li><span class="TLline"><a href="/medgen/481666" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 10">Meckel syndrome, type 10</a></span></li><li><span class="TLline"><a href="/medgen/382217" ref="tree=MeSH" title="MedGen record for NPHP3-related Meckel-like syndrome">NPHP3-related Meckel-like syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/65086" ref="tree=MeSH" title="MedGen record for Medium-chain acyl-coenzyme A dehydrogenase deficiency">Medium-chain acyl-coenzyme A dehydrogenase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/83283" ref="tree=MeSH" title="MedGen record for Meesmann corneal dystrophy">Meesmann corneal dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1684668" ref="tree=MeSH" title="MedGen record for Corneal dystrophy, Meesmann, 1">Corneal dystrophy, Meesmann, 1</a></span></li><li><span class="TLline"><a href="/medgen/1684798" ref="tree=MeSH" title="MedGen record for Corneal dystrophy, Meesmann, 2">Corneal dystrophy, Meesmann, 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/296125" ref="tree=MeSH" title="MedGen record for Megacystis, microcolon, hypoperistalsis syndrome">Megacystis, microcolon, hypoperistalsis syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/120590" ref="tree=MeSH" title="MedGen record for Hereditary hollow viscus myopathy">Hereditary hollow viscus myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/1785391" ref="tree=MeSH" title="MedGen record for Visceral myopathy 1">Visceral myopathy 1</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/6291" ref="tree=MeSH" title="MedGen record for Melkersson-Rosenthal syndrome">Melkersson-Rosenthal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1781109" ref="tree=MeSH" title="MedGen record for Mendelian susceptibility to mycobacterial disease">Mendelian susceptibility to mycobacterial disease</a></span></li><li><span class="TLline"><a href="/medgen/44030" ref="tree=MeSH" title="MedGen record for Menkes kinky-hair syndrome">Menkes kinky-hair syndrome</a></span></li><li><span class="TLline"><a href="/medgen/894460" ref="tree=MeSH" title="MedGen record for Mental Retardation, Autosomal Dominant 40">Mental Retardation, Autosomal Dominant 40</a></span></li><li><span class="TLline"><a href="/medgen/897961" ref="tree=MeSH" title="MedGen record for Mental Retardation, X-linked 102">Mental Retardation, X-linked 102</a></span></li><li><span class="TLline"><a href="/medgen/120529" ref="tree=MeSH" title="MedGen record for Metaphyseal chondrodysplasia, Jansen type">Metaphyseal chondrodysplasia, Jansen type</a></span></li><li><span class="TLline"><a href="/medgen/67398" ref="tree=MeSH" title="MedGen record for Metaphyseal chondrodysplasia, McKusick type">Metaphyseal chondrodysplasia, McKusick type</a></span></li><li><span class="TLline"><a href="/medgen/82699" ref="tree=MeSH" title="MedGen record for Metatropic dysplasia">Metatropic dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/120654" ref="tree=MeSH" title="MedGen record for Methylmalonic acidemia">Methylmalonic acidemia</a></span><ul><li><span class="TLline"><a href="/medgen/341256" ref="tree=MeSH" title="MedGen record for Cobalamin C disease">Cobalamin C disease</a></span></li><li><span class="TLline"><a href="/medgen/344419" ref="tree=MeSH" title="MedGen record for Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency">Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/341253" ref="tree=MeSH" title="MedGen record for Methylmalonic aciduria and homocystinuria type cblD">Methylmalonic aciduria and homocystinuria type cblD</a></span></li><li><span class="TLline"><a href="/medgen/344424" ref="tree=MeSH" title="MedGen record for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency">Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/575192" ref="tree=MeSH" title="MedGen record for Vitamin B12-unresponsive methylmalonic acidemia type mut-">Vitamin B12-unresponsive methylmalonic acidemia type mut-</a></span></li><li><span class="TLline"><a href="/medgen/575191" ref="tree=MeSH" title="MedGen record for Vitamin B12-unresponsive methylmalonic acidemia type mut0">Vitamin B12-unresponsive methylmalonic acidemia type mut0</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/344422" ref="tree=MeSH" title="MedGen record for Methylmalonic aciduria, cblA type">Methylmalonic aciduria, cblA type</a></span></li><li><span class="TLline"><a href="/medgen/344420" ref="tree=MeSH" title="MedGen record for Methylmalonic aciduria, cblB type">Methylmalonic aciduria, cblB type</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/480111" ref="tree=MeSH" title="MedGen record for Microcephaly and chorioretinopathy 1">Microcephaly and chorioretinopathy 1</a></span></li><li><span class="TLline"><a href="/medgen/1377952" ref="tree=MeSH" title="MedGen record for Mitochondrial DNA depletion syndrome 12">Mitochondrial DNA depletion syndrome 12</a></span><ul><li><span class="TLline"><a href="/medgen/934643" ref="tree=MeSH" title="MedGen record for Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant">Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/815773" ref="tree=MeSH" title="MedGen record for Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive">Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/815922" ref="tree=MeSH" title="MedGen record for Mitochondrial DNA depletion syndrome 13">Mitochondrial DNA depletion syndrome 13</a></span></li><li><span class="TLline"><a href="/medgen/1651816" ref="tree=MeSH" title="MedGen record for Mitochondrially Inherited Nonsyndromic Sensorineural Deafness">Mitochondrially Inherited Nonsyndromic Sensorineural Deafness</a></span></li><li><span class="TLline"><a href="/medgen/10069" ref="tree=MeSH" title="MedGen record for Mixed connective tissue disease">Mixed connective tissue disease</a></span></li><li><span class="TLline"><a href="/medgen/418947" ref="tree=MeSH" title="MedGen record for Mosaic trisomy 14">Mosaic trisomy 14</a></span></li><li><span class="TLline"><a href="/medgen/341067" ref="tree=MeSH" title="MedGen record for Mowat-Wilson syndrome">Mowat-Wilson syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1842263" ref="tree=MeSH" title="MedGen record for Mowat-Wilson syndrome due to a ZEB2 point mutation">Mowat-Wilson syndrome due to a ZEB2 point mutation</a></span></li><li><span class="TLline"><a href="/medgen/1723926" ref="tree=MeSH" title="MedGen record for Mowat-Wilson syndrome due to monosomy 2q22">Mowat-Wilson syndrome due to monosomy 2q22</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/7726" ref="tree=MeSH" title="MedGen record for Moyamoya disease">Moyamoya disease</a></span></li><li><span class="TLline"><a href="/medgen/99347" ref="tree=MeSH" title="MedGen record for Mulibrey nanism syndrome">Mulibrey nanism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/543458" ref="tree=MeSH" title="MedGen record for Mullerian inhibiting factor deficiency">Mullerian inhibiting factor deficiency</a></span></li><li><span class="TLline"><a href="/medgen/436237" ref="tree=MeSH" title="MedGen record for Multicentric carpo-tarsal osteolysis with or without nephropathy">Multicentric carpo-tarsal osteolysis with or without nephropathy</a></span></li><li><span class="TLline"><a href="/medgen/342428" ref="tree=MeSH" title="MedGen record for Multicentric osteolysis nodulosis arthropathy spectrum">Multicentric osteolysis nodulosis arthropathy spectrum</a></span><ul><li><span class="TLline"><a href="/medgen/1002739" ref="tree=MeSH" title="MedGen record for Multicentric osteolysis, nodulosis, and arthropathy">Multicentric osteolysis, nodulosis, and arthropathy</a></span></li><li><span class="TLline"><a href="/medgen/98152" ref="tree=MeSH" title="MedGen record for Winchester syndrome">Winchester syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75696" ref="tree=MeSH" title="MedGen record for Multiple acyl-CoA dehydrogenase deficiency">Multiple acyl-CoA dehydrogenase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/1843108" ref="tree=MeSH" title="MedGen record for Multiple acyl-CoA dehydrogenase deficiency, mild type">Multiple acyl-CoA dehydrogenase deficiency, mild type</a></span></li><li><span class="TLline"><a href="/medgen/1842925" ref="tree=MeSH" title="MedGen record for Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type">Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/98276" ref="tree=MeSH" title="MedGen record for Multiple system atrophy">Multiple system atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1843304" ref="tree=MeSH" title="MedGen record for Multiple system atrophy, cerebellar type">Multiple system atrophy, cerebellar type</a></span></li><li><span class="TLline"><a href="/medgen/1842393" ref="tree=MeSH" title="MedGen record for Multiple system atrophy, parkinsonian type">Multiple system atrophy, parkinsonian type</a></span></li><li><span class="TLline"><a href="/medgen/10435" ref="tree=MeSH" title="MedGen record for Olivopontocerebellar atrophy">Olivopontocerebellar atrophy</a></span></li><li><span class="TLline"><a href="/medgen/20740" ref="tree=MeSH" title="MedGen record for Shy Drager Syndrome">Shy Drager Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/124366" ref="tree=MeSH" title="MedGen record for Striatonigral degeneration">Striatonigral degeneration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/167103" ref="tree=MeSH" title="MedGen record for Myhre syndrome">Myhre syndrome</a></span></li><li><span class="TLline"><a href="/medgen/146882" ref="tree=MeSH" title="MedGen record for Myokymia">Myokymia</a></span><ul><li><span class="TLline"><a href="/medgen/1380696" ref="tree=MeSH" title="MedGen record for Eyelid myokymia">Eyelid myokymia</a></span></li><li><span class="TLline"><a href="/medgen/78741" ref="tree=MeSH" title="MedGen record for Facial myokymia">Facial myokymia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/44564" ref="tree=MeSH" title="MedGen record for Myositis disease">Myositis disease</a></span><ul><li><span class="TLline"><a href="/medgen/235204" ref="tree=MeSH" title="MedGen record for Idiopathic granulomatous myositis">Idiopathic granulomatous myositis</a></span></li><li><span class="TLline"><a href="/medgen/68659" ref="tree=MeSH" title="MedGen record for Inclusion body myositis">Inclusion body myositis</a></span></li><li><span class="TLline"><a href="/medgen/102358" ref="tree=MeSH" title="MedGen record for Infectious myositis">Infectious myositis</a></span></li><li><span class="TLline"><a href="/medgen/57855" ref="tree=MeSH" title="MedGen record for Myositis fibrosa">Myositis fibrosa</a></span></li><li><span class="TLline"><a href="/medgen/6503" ref="tree=MeSH" title="MedGen record for Myositis ossificans">Myositis ossificans</a></span></li><li><span class="TLline"><a href="/medgen/389999" ref="tree=MeSH" title="MedGen record for Orbital myositis">Orbital myositis</a></span></li><li><span class="TLline"><a href="/medgen/39086" ref="tree=MeSH" title="MedGen record for Polymyositis">Polymyositis</a></span><ul><li><span class="TLline"><a href="/medgen/8331" ref="tree=MeSH" title="MedGen record for Dermatomyositis">Dermatomyositis</a></span></li><li><span class="TLline"><a href="/medgen/819736" ref="tree=MeSH" title="MedGen record for Juvenile polymyositis">Juvenile polymyositis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/52862" ref="tree=MeSH" title="MedGen record for Pyomyositis">Pyomyositis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/107510" ref="tree=MeSH" title="MedGen record for Myotonic syndrome">Myotonic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/10158" ref="tree=MeSH" title="MedGen record for Batten-Turner congenital myopathy">Batten-Turner congenital myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/422446" ref="tree=MeSH" title="MedGen record for Congenital myotonia, autosomal dominant form">Congenital myotonia, autosomal dominant form</a></span></li><li><span class="TLline"><a href="/medgen/155852" ref="tree=MeSH" title="MedGen record for Congenital myotonia, autosomal recessive form">Congenital myotonia, autosomal recessive form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/741982" ref="tree=MeSH" title="MedGen record for Non dystrophic myotonia">Non dystrophic myotonia</a></span><ul><li><span class="TLline"><a href="/medgen/78678" ref="tree=MeSH" title="MedGen record for Familial normokalemic periodic paralysis">Familial normokalemic periodic paralysis</a></span></li><li><span class="TLline"><a href="/medgen/460867" ref="tree=MeSH" title="MedGen record for Laryngospasm, severe neonatal episodic">Laryngospasm, severe neonatal episodic</a></span></li><li><span class="TLline"><a href="/medgen/113142" ref="tree=MeSH" title="MedGen record for Paramyotonia congenita of Von Eulenburg">Paramyotonia congenita of Von Eulenburg</a></span></li><li><span class="TLline"><a href="/medgen/444151" ref="tree=MeSH" title="MedGen record for Potassium-aggravated myotonia">Potassium-aggravated myotonia</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/476133" ref="tree=MeSH" title="MedGen record for NADH Dehydrogenase Deficiency">NADH Dehydrogenase Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/10257" ref="tree=MeSH" title="MedGen record for Nail-patella syndrome">Nail-patella syndrome</a></span></li><li><span class="TLline"><a href="/medgen/6544" ref="tree=MeSH" title="MedGen record for Nelson Syndrome">Nelson Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/140806" ref="tree=MeSH" title="MedGen record for Neonatal pseudo-hydrocephalic progeroid syndrome">Neonatal pseudo-hydrocephalic progeroid syndrome</a></span></li><li><span class="TLline"><a href="/medgen/482659" ref="tree=MeSH" title="MedGen record for Neonatal-onset encephalopathy with rigidity and seizures">Neonatal-onset encephalopathy with rigidity and seizures</a></span></li><li><span class="TLline"><a href="/medgen/10222" ref="tree=MeSH" title="MedGen record for Nephrocalcinosis">Nephrocalcinosis</a></span><ul><li><span class="TLline"><a href="/medgen/588417" ref="tree=MeSH" title="MedGen record for Cortical nephrocalcinosis">Cortical nephrocalcinosis</a></span></li><li><span class="TLline"><a href="/medgen/588418" ref="tree=MeSH" title="MedGen record for Medullary nephrocalcinosis">Medullary nephrocalcinosis</a></span></li><li><span class="TLline"><a href="/medgen/98014" ref="tree=MeSH" title="MedGen record for Microscopic nephrocalcinosis">Microscopic nephrocalcinosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/301436" ref="tree=MeSH" title="MedGen record for Nephrogenic fibrosing dermopathy">Nephrogenic fibrosing dermopathy</a></span></li><li><span class="TLline"><a href="/medgen/18009" ref="tree=MeSH" title="MedGen record for Neural tube defect">Neural tube defect</a></span><ul><li><span class="TLline"><a href="/medgen/4934" ref="tree=MeSH" title="MedGen record for Cephalocele">Cephalocele</a></span><ul><li><span class="TLline"><a href="/medgen/332248" ref="tree=MeSH" title="MedGen record for Atretic occipital cephalocele">Atretic occipital cephalocele</a></span></li><li><span class="TLline"><a href="/medgen/1830107" ref="tree=MeSH" title="MedGen record for Isolated encephalocele">Isolated encephalocele</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1814386" ref="tree=MeSH" title="MedGen record for Closed neural tube defect">Closed neural tube defect</a></span><ul><li><span class="TLline"><a href="/medgen/1815047" ref="tree=MeSH" title="MedGen record for Dermal sinus tract">Dermal sinus tract</a></span></li><li><span class="TLline"><a href="/medgen/332109" ref="tree=MeSH" title="MedGen record for Lipomyelomeningocele">Lipomyelomeningocele</a></span></li><li><span class="TLline"><a href="/medgen/44356" ref="tree=MeSH" title="MedGen record for Meningocele">Meningocele</a></span></li><li><span class="TLline"><a href="/medgen/11550" ref="tree=MeSH" title="MedGen record for Myelopathy">Myelopathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/488957" ref="tree=MeSH" title="MedGen record for Congenital meningocele">Congenital meningocele</a></span><ul><li><span class="TLline"><a href="/medgen/507591" ref="tree=MeSH" title="MedGen record for Congenital cerebral meningocele">Congenital cerebral meningocele</a></span></li><li><span class="TLline"><a href="/medgen/507597" ref="tree=MeSH" title="MedGen record for Congenital spinal meningocele">Congenital spinal meningocele</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/56290" ref="tree=MeSH" title="MedGen record for Craniorachischisis">Craniorachischisis</a></span></li><li><span class="TLline"><a href="/medgen/672791" ref="tree=MeSH" title="MedGen record for Holorachischisis">Holorachischisis</a></span></li><li><span class="TLline"><a href="/medgen/57756" ref="tree=MeSH" title="MedGen record for Iniencephaly">Iniencephaly</a></span><ul><li><span class="TLline"><a href="/medgen/608901" ref="tree=MeSH" title="MedGen record for Closed iniencephaly">Closed iniencephaly</a></span></li><li><span class="TLline"><a href="/medgen/608900" ref="tree=MeSH" title="MedGen record for Open iniencephaly">Open iniencephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/903577" ref="tree=MeSH" title="MedGen record for Meningohydroencephalocele">Meningohydroencephalocele</a></span></li><li><span class="TLline"><a href="/medgen/7538" ref="tree=MeSH" title="MedGen record for Myelomeningocele">Myelomeningocele</a></span><ul><li><span class="TLline"><a href="/medgen/760704" ref="tree=MeSH" title="MedGen record for Cervical meningomyelocele">Cervical meningomyelocele</a></span></li><li><span class="TLline"><a href="/medgen/798909" ref="tree=MeSH" title="MedGen record for Cervical spina bifida cystica">Cervical spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/797823" ref="tree=MeSH" title="MedGen record for Cervicothoracic spina bifida cystica">Cervicothoracic spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/760702" ref="tree=MeSH" title="MedGen record for Lumbar meningomyelocele">Lumbar meningomyelocele</a></span></li><li><span class="TLline"><a href="/medgen/799730" ref="tree=MeSH" title="MedGen record for Lumbosacral spina bifida cystica">Lumbosacral spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/101069" ref="tree=MeSH" title="MedGen record for Sacral meningocele">Sacral meningocele</a></span></li><li><span class="TLline"><a href="/medgen/760703" ref="tree=MeSH" title="MedGen record for Thoracic meningomyelocele">Thoracic meningomyelocele</a></span></li><li><span class="TLline"><a href="/medgen/798744" ref="tree=MeSH" title="MedGen record for Thoracolumbosacral spina bifida cystica">Thoracolumbosacral spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/798852" ref="tree=MeSH" title="MedGen record for Total spina bifida cystica">Total spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/799069" ref="tree=MeSH" title="MedGen record for Upper thoracic spina bifida cystica">Upper thoracic spina bifida cystica</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/856010" ref="tree=MeSH" title="MedGen record for Neural tube defects, susceptibility to">Neural tube defects, susceptibility to</a></span></li><li><span class="TLline"><a href="/medgen/1814385" ref="tree=MeSH" title="MedGen record for Open neural tube defect">Open neural tube defect</a></span><ul><li><span class="TLline"><a href="/medgen/120577" ref="tree=MeSH" title="MedGen record for Exencephaly">Exencephaly</a></span></li><li><span class="TLline"><a href="/medgen/539965" ref="tree=MeSH" title="MedGen record for Myeloschisis">Myeloschisis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/107540" ref="tree=MeSH" title="MedGen record for Pentalogy of Cantrell">Pentalogy of Cantrell</a></span></li><li><span class="TLline"><a href="/medgen/38283" ref="tree=MeSH" title="MedGen record for Spina bifida">Spina bifida</a></span><ul><li><span class="TLline"><a href="/medgen/539959" ref="tree=MeSH" title="MedGen record for Cervical spina bifida">Cervical spina bifida</a></span></li><li><span class="TLline"><a href="/medgen/21277" ref="tree=MeSH" title="MedGen record for Spina bifida cystica">Spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/36380" ref="tree=MeSH" title="MedGen record for Spina bifida occulta">Spina bifida occulta</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/87487" ref="tree=MeSH" title="MedGen record for Spinal dysraphism">Spinal dysraphism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/482001" ref="tree=MeSH" title="MedGen record for Neurodegeneration with brain iron accumulation 4">Neurodegeneration with brain iron accumulation 4</a></span></li><li><span class="TLline"><a href="/medgen/763887" ref="tree=MeSH" title="MedGen record for Neurodegeneration with brain iron accumulation 5">Neurodegeneration with brain iron accumulation 5</a></span></li><li><span class="TLline"><a href="/medgen/45063" ref="tree=MeSH" title="MedGen record for Neuromyelitis optica">Neuromyelitis optica</a></span><ul><li><span class="TLline"><a href="/medgen/1842475" ref="tree=MeSH" title="MedGen record for Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies">Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies</a></span></li><li><span class="TLline"><a href="/medgen/1843203" ref="tree=MeSH" title="MedGen record for Neuromyelitis optica spectrum disorder with anti-MOG antibodies">Neuromyelitis optica spectrum disorder with anti-MOG antibodies</a></span></li><li><span class="TLline"><a href="/medgen/1842615" ref="tree=MeSH" title="MedGen record for Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies">Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/355075" ref="tree=MeSH" title="MedGen record for Neuronal intranuclear inclusion disease">Neuronal intranuclear inclusion disease</a></span></li><li><span class="TLline"><a href="/medgen/6723" ref="tree=MeSH" title="MedGen record for Neutral 1 amino acid transport defect">Neutral 1 amino acid transport defect</a></span></li><li><span class="TLline"><a href="/medgen/415589" ref="tree=MeSH" title="MedGen record for Non-Trisomic Autosomal Aneuploidy">Non-Trisomic Autosomal Aneuploidy</a></span></li><li><span class="TLline"><a href="/medgen/104494" ref="tree=MeSH" title="MedGen record for Noonan syndrome with multiple lentigines">Noonan syndrome with multiple lentigines</a></span><ul><li><span class="TLline"><a href="/medgen/1631694" ref="tree=MeSH" title="MedGen record for LEOPARD syndrome 1">LEOPARD syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/370588" ref="tree=MeSH" title="MedGen record for LEOPARD syndrome 2">LEOPARD syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/462321" ref="tree=MeSH" title="MedGen record for LEOPARD syndrome 3">LEOPARD syndrome 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45177" ref="tree=MeSH" title="MedGen record for Ochronosis disorder">Ochronosis disorder</a></span></li><li><span class="TLline"><a href="/medgen/854546" ref="tree=MeSH" title="MedGen record for Optic neuropathy">Optic neuropathy</a></span><ul><li><span class="TLline"><a href="/medgen/338887" ref="tree=MeSH" title="MedGen record for Nonarteritic anterior ischemic optic neuropathy">Nonarteritic anterior ischemic optic neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/18181" ref="tree=MeSH" title="MedGen record for Optic neuritis">Optic neuritis</a></span><ul><li><span class="TLline"><a href="/medgen/39312" ref="tree=MeSH" title="MedGen record for Retrobulbar optic neuritis">Retrobulbar optic neuritis</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/6695" ref="tree=MeSH" title="MedGen record for Ornithine aminotransferase deficiency">Ornithine aminotransferase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/349303" ref="tree=MeSH" title="MedGen record for Orofacial cleft 1">Orofacial cleft 1</a></span></li><li><span class="TLline"><a href="/medgen/307142" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome I">Orofaciodigital syndrome I</a></span></li><li><span class="TLline"><a href="/medgen/411200" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome type 6">Orofaciodigital syndrome type 6</a></span></li><li><span class="TLline"><a href="/medgen/66357" ref="tree=MeSH" title="MedGen record for Oromandibular-limb hypogenesis spectrum">Oromandibular-limb hypogenesis spectrum</a></span></li><li><span class="TLline"><a href="/medgen/104849" ref="tree=MeSH" title="MedGen record for Ossification of posterior longitudinal ligament">Ossification of posterior longitudinal ligament</a></span></li><li><span class="TLline"><a href="/medgen/10495" ref="tree=MeSH" title="MedGen record for Osteochondrodysplasia">Osteochondrodysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/1289" ref="tree=MeSH" title="MedGen record for Achondroplasia">Achondroplasia</a></span><ul><li><span class="TLline"><a href="/medgen/21124" ref="tree=MeSH" title="MedGen record for Thanatophoric dysplasia">Thanatophoric dysplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/395189" ref="tree=MeSH" title="MedGen record for Chondrodysplasia Blomstrand type">Chondrodysplasia Blomstrand type</a></span></li><li><span class="TLline"><a href="/medgen/98479" ref="tree=MeSH" title="MedGen record for Desbuquois syndrome">Desbuquois syndrome</a></span></li><li><span class="TLline"><a href="/medgen/41775" ref="tree=MeSH" title="MedGen record for Enchondromatosis">Enchondromatosis</a></span></li><li><span class="TLline"><a href="/medgen/57704" ref="tree=MeSH" title="MedGen record for Epiphysiolysis of the hip">Epiphysiolysis of the hip</a></span></li><li><span class="TLline"><a href="/medgen/858765" ref="tree=MeSH" title="MedGen record for FGFR3 Chondrodysplasia">FGFR3 Chondrodysplasia</a></span></li><li><span class="TLline"><a href="/medgen/120444" ref="tree=MeSH" title="MedGen record for Fibrous dysplasia">Fibrous dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/1639270" ref="tree=MeSH" title="MedGen record for Craniofacial Fibrous Dysplasia">Craniofacial Fibrous Dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/40219" ref="tree=MeSH" title="MedGen record for Fibrous dysplasia of jaw">Fibrous dysplasia of jaw</a></span></li><li><span class="TLline"><a href="/medgen/42020" ref="tree=MeSH" title="MedGen record for Monostotic fibrous dysplasia">Monostotic fibrous dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/5180" ref="tree=MeSH" title="MedGen record for Polyostotic fibrous dysplasia of bone">Polyostotic fibrous dysplasia of bone</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/9367" ref="tree=MeSH" title="MedGen record for Hyperostosis interna frontalis">Hyperostosis interna frontalis</a></span></li><li><span class="TLline"><a href="/medgen/98376" ref="tree=MeSH" title="MedGen record for Hypochondroplasia">Hypochondroplasia</a></span></li><li><span class="TLline"><a href="/medgen/10502" ref="tree=MeSH" title="MedGen record for Increased bone mineral density">Increased bone mineral density</a></span><ul><li><span class="TLline"><a href="/medgen/870941" ref="tree=MeSH" title="MedGen record for Bone-in-a-bone appearance of carpal bones">Bone-in-a-bone appearance of carpal bones</a></span></li><li><span class="TLline"><a href="/medgen/767583" ref="tree=MeSH" title="MedGen record for Clavicular sclerosis">Clavicular sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/870710" ref="tree=MeSH" title="MedGen record for Cortical sclerosis">Cortical sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/1864368" ref="tree=MeSH" title="MedGen record for Femoral osteosclerosis">Femoral osteosclerosis</a></span></li><li><span class="TLline"><a href="/medgen/375162" ref="tree=MeSH" title="MedGen record for Generalized osteosclerosis">Generalized osteosclerosis</a></span></li><li><span class="TLline"><a href="/medgen/870697" ref="tree=MeSH" title="MedGen record for Increased bone density with cystic changes">Increased bone density with cystic changes</a></span></li><li><span class="TLline"><a href="/medgen/5694" ref="tree=MeSH" title="MedGen record for Increased skull ossification">Increased skull ossification</a></span></li><li><span class="TLline"><a href="/medgen/870114" ref="tree=MeSH" title="MedGen record for Ivory epiphyses of the metacarpals">Ivory epiphyses of the metacarpals</a></span></li><li><span class="TLline"><a href="/medgen/326730" ref="tree=MeSH" title="MedGen record for Metacarpal diaphyseal endosteal sclerosis">Metacarpal diaphyseal endosteal sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/18223" ref="tree=MeSH" title="MedGen record for Osteopetrosis">Osteopetrosis</a></span></li><li><span class="TLline"><a href="/medgen/45251" ref="tree=MeSH" title="MedGen record for Osteopoikilosis">Osteopoikilosis</a></span></li><li><span class="TLline"><a href="/medgen/383784" ref="tree=MeSH" title="MedGen record for Patchy osteosclerosis">Patchy osteosclerosis</a></span></li><li><span class="TLline"><a href="/medgen/866585" ref="tree=MeSH" title="MedGen record for Sclerosis of foot bone">Sclerosis of foot bone</a></span></li><li><span class="TLline"><a href="/medgen/867321" ref="tree=MeSH" title="MedGen record for Sclerosis of hand bone">Sclerosis of hand bone</a></span></li><li><span class="TLline"><a href="/medgen/377095" ref="tree=MeSH" title="MedGen record for Sclerosis of skull base">Sclerosis of skull base</a></span></li><li><span class="TLline"><a href="/medgen/336559" ref="tree=MeSH" title="MedGen record for Sclerotic scapulae">Sclerotic scapulae</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/412531" ref="tree=MeSH" title="MedGen record for Kashin-Beck disease">Kashin-Beck disease</a></span></li><li><span class="TLline"><a href="/medgen/593147" ref="tree=MeSH" title="MedGen record for Mesomelic dysplasia">Mesomelic dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/96585" ref="tree=MeSH" title="MedGen record for Langer mesomelic dysplasia syndrome">Langer mesomelic dysplasia syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10496" ref="tree=MeSH" title="MedGen record for Osteochondroma">Osteochondroma</a></span><ul><li><span class="TLline"><a href="/medgen/64625" ref="tree=MeSH" title="MedGen record for Multiple Osteochondromas">Multiple Osteochondromas</a></span></li><li><span class="TLline"><a href="/medgen/328039" ref="tree=MeSH" title="MedGen record for Solitary Osteochondroma">Solitary Osteochondroma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45246" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta">Osteogenesis imperfecta</a></span><ul><li><span class="TLline"><a href="/medgen/419332" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 5">Osteogenesis imperfecta type 5</a></span></li><li><span class="TLline"><a href="/medgen/481194" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 6">Osteogenesis imperfecta type 6</a></span></li><li><span class="TLline"><a href="/medgen/343981" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 7">Osteogenesis imperfecta type 7</a></span></li><li><span class="TLline"><a href="/medgen/410075" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 8">Osteogenesis imperfecta type 8</a></span></li><li><span class="TLline"><a href="/medgen/376720" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 9">Osteogenesis imperfecta type 9</a></span></li><li><span class="TLline"><a href="/medgen/462561" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 10">Osteogenesis imperfecta type 10</a></span></li><li><span class="TLline"><a href="/medgen/462568" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 11">Osteogenesis imperfecta type 11</a></span></li><li><span class="TLline"><a href="/medgen/462783" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 12">Osteogenesis imperfecta type 12</a></span></li><li><span class="TLline"><a href="/medgen/766801" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 13">Osteogenesis imperfecta type 13</a></span></li><li><span class="TLline"><a href="/medgen/767342" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 14">Osteogenesis imperfecta type 14</a></span></li><li><span class="TLline"><a href="/medgen/815174" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 15">Osteogenesis imperfecta type 15</a></span></li><li><span class="TLline"><a href="/medgen/864047" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 16">Osteogenesis imperfecta type 16</a></span></li><li><span class="TLline"><a href="/medgen/903845" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 17">Osteogenesis imperfecta type 17</a></span></li><li><span class="TLline"><a href="/medgen/9799" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type I">Osteogenesis imperfecta type I</a></span></li><li><span class="TLline"><a href="/medgen/78664" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type III">Osteogenesis imperfecta type III</a></span></li><li><span class="TLline"><a href="/medgen/78665" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta with normal sclerae, dominant form">Osteogenesis imperfecta with normal sclerae, dominant form</a></span></li><li><span class="TLline"><a href="/medgen/1801631" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta, IIA 22">Osteogenesis imperfecta, IIA 22</a></span></li><li><span class="TLline"><a href="/medgen/75673" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta, perinatal lethal">Osteogenesis imperfecta, perinatal lethal</a></span></li><li><span class="TLline"><a href="/medgen/1635201" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta, type 18">Osteogenesis imperfecta, type 18</a></span></li><li><span class="TLline"><a href="/medgen/1648353" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta, type 19">Osteogenesis imperfecta, type 19</a></span></li><li><span class="TLline"><a href="/medgen/1684751" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta, type 20">Osteogenesis imperfecta, type 20</a></span></li><li><span class="TLline"><a href="/medgen/1723598" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta, type 21">Osteogenesis imperfecta, type 21</a></span></li><li><span class="TLline"><a href="/medgen/1846121" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta, type 23">Osteogenesis imperfecta, type 23</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/120490" ref="tree=MeSH" title="MedGen record for SAPHO syndrome">SAPHO syndrome</a></span></li><li><span class="TLline"><a href="/medgen/11412" ref="tree=MeSH" title="MedGen record for Short rib-polydactyly syndrome">Short rib-polydactyly syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1371401" ref="tree=MeSH" title="MedGen record for Joubert syndrome with Jeune asphyxiating thoracic dystrophy">Joubert syndrome with Jeune asphyxiating thoracic dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/988414" ref="tree=MeSH" title="MedGen record for Short rib-polydactyly syndrome, Majewski type">Short rib-polydactyly syndrome, Majewski type</a></span></li><li><span class="TLline"><a href="/medgen/44252" ref="tree=MeSH" title="MedGen record for Short-rib thoracic dysplasia 6 with or without polydactyly">Short-rib thoracic dysplasia 6 with or without polydactyly</a></span></li><li><span class="TLline"><a href="/medgen/481422" ref="tree=MeSH" title="MedGen record for Short-rib thoracic dysplasia 7 with or without polydactyly">Short-rib thoracic dysplasia 7 with or without polydactyly</a></span></li><li><span class="TLline"><a href="/medgen/96578" ref="tree=MeSH" title="MedGen record for Type IV short rib polydactyly syndrome">Type IV short rib polydactyly syndrome</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/91042" ref="tree=MeSH" title="MedGen record for Osteopetrosis with renal tubular acidosis">Osteopetrosis with renal tubular acidosis</a></span></li><li><span class="TLline"><a href="/medgen/78542" ref="tree=MeSH" title="MedGen record for Oto-palato-digital syndrome, type I">Oto-palato-digital syndrome, type I</a></span></li><li><span class="TLline"><a href="/medgen/18210" ref="tree=MeSH" title="MedGen record for Pachydermoperiostosis syndrome">Pachydermoperiostosis syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1641972" ref="tree=MeSH" title="MedGen record for Hypertrophic osteoarthropathy, primary, autosomal recessive, 1">Hypertrophic osteoarthropathy, primary, autosomal recessive, 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78556" ref="tree=MeSH" title="MedGen record for Pachyonychia congenita syndrome">Pachyonychia congenita syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/353335" ref="tree=MeSH" title="MedGen record for Pachyonychia congenita 1">Pachyonychia congenita 1</a></span></li><li><span class="TLline"><a href="/medgen/314107" ref="tree=MeSH" title="MedGen record for Pachyonychia congenita 2">Pachyonychia congenita 2</a></span></li><li><span class="TLline"><a href="/medgen/811523" ref="tree=MeSH" title="MedGen record for Pachyonychia congenita 3">Pachyonychia congenita 3</a></span></li><li><span class="TLline"><a href="/medgen/811524" ref="tree=MeSH" title="MedGen record for Pachyonychia congenita 4">Pachyonychia congenita 4</a></span></li><li><span class="TLline"><a href="/medgen/75476" ref="tree=MeSH" title="MedGen record for Steatocystoma multiplex">Steatocystoma multiplex</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/154351" ref="tree=MeSH" title="MedGen record for Pain agnosia">Pain agnosia</a></span></li><li><span class="TLline"><a href="/medgen/120514" ref="tree=MeSH" title="MedGen record for Pallister-Hall syndrome">Pallister-Hall syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120540" ref="tree=MeSH" title="MedGen record for Pallister-Killian syndrome">Pallister-Killian syndrome</a></span></li><li><span class="TLline"><a href="/medgen/482157" ref="tree=MeSH" title="MedGen record for Pancreatic triacylglycerol lipase deficiency">Pancreatic triacylglycerol lipase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/45303" ref="tree=MeSH" title="MedGen record for Panuveitis">Panuveitis</a></span><ul><li><span class="TLline"><a href="/medgen/22595" ref="tree=MeSH" title="MedGen record for Anterior uveitis">Anterior uveitis</a></span><ul><li><span class="TLline"><a href="/medgen/472531" ref="tree=MeSH" title="MedGen record for Acute anterior uveitis">Acute anterior uveitis</a></span></li><li><span class="TLline"><a href="/medgen/2568" ref="tree=MeSH" title="MedGen record for Behcet disease">Behcet disease</a></span></li><li><span class="TLline"><a href="/medgen/573079" ref="tree=MeSH" title="MedGen record for Idiopathic anterior uveitis">Idiopathic anterior uveitis</a></span></li><li><span class="TLline"><a href="/medgen/509716" ref="tree=MeSH" title="MedGen record for Infectious anterior uveitis">Infectious anterior uveitis</a></span></li><li><span class="TLline"><a href="/medgen/43961" ref="tree=MeSH" title="MedGen record for Iridocyclitis">Iridocyclitis</a></span></li><li><span class="TLline"><a href="/medgen/7160" ref="tree=MeSH" title="MedGen record for Iritis">Iritis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1633708" ref="tree=MeSH" title="MedGen record for Idiopathic panuveitis">Idiopathic panuveitis</a></span></li><li><span class="TLline"><a href="/medgen/1669541" ref="tree=MeSH" title="MedGen record for Idiopathic uveal effusion syndrome">Idiopathic uveal effusion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1684863" ref="tree=MeSH" title="MedGen record for Infectious panuveitis">Infectious panuveitis</a></span></li><li><span class="TLline"><a href="/medgen/22597" ref="tree=MeSH" title="MedGen record for Posterior uveitis">Posterior uveitis</a></span><ul><li><span class="TLline"><a href="/medgen/40282" ref="tree=MeSH" title="MedGen record for Choroiditis">Choroiditis</a></span></li><li><span class="TLline"><a href="/medgen/735629" ref="tree=MeSH" title="MedGen record for White dot syndrome">White dot syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45203" ref="tree=MeSH" title="MedGen record for Sympathetic ophthalmia">Sympathetic ophthalmia</a></span></li><li><span class="TLline"><a href="/medgen/22599" ref="tree=MeSH" title="MedGen record for Vogt-Koyanagi-Harada disease">Vogt-Koyanagi-Harada disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45306" ref="tree=MeSH" title="MedGen record for Papillon-Lefèvre syndrome">Papillon-Lefèvre syndrome</a></span></li><li><span class="TLline"><a href="/medgen/337964" ref="tree=MeSH" title="MedGen record for Parana hard-skin syndrome">Parana hard-skin syndrome</a></span></li><li><span class="TLline"><a href="/medgen/331565" ref="tree=MeSH" title="MedGen record for Paroxysmal extreme pain disorder">Paroxysmal extreme pain disorder</a></span></li><li><span class="TLline"><a href="/medgen/87459" ref="tree=MeSH" title="MedGen record for Pearson syndrome">Pearson syndrome</a></span></li><li><span class="TLline"><a href="/medgen/10617" ref="tree=MeSH" title="MedGen record for Pelger-Huët anomaly">Pelger-Huët anomaly</a></span></li><li><span class="TLline"><a href="/medgen/10560" ref="tree=MeSH" title="MedGen record for Peritoneal Panniculitis">Peritoneal Panniculitis</a></span></li><li><span class="TLline"><a href="/medgen/45824" ref="tree=MeSH" title="MedGen record for Persistent fetal circulation syndrome">Persistent fetal circulation syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/755478" ref="tree=MeSH" title="MedGen record for Alveolar capillary dysplasia with pulmonary venous misalignment">Alveolar capillary dysplasia with pulmonary venous misalignment</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/163204" ref="tree=MeSH" title="MedGen record for Peters plus syndrome">Peters plus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162924" ref="tree=MeSH" title="MedGen record for Pettigrew syndrome">Pettigrew syndrome</a></span></li><li><span class="TLline"><a href="/medgen/339994" ref="tree=MeSH" title="MedGen record for Phelan-McDermid syndrome">Phelan-McDermid syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120618" ref="tree=MeSH" title="MedGen record for Phosphoenolpyruvate carboxykinase (GTP) deficiency">Phosphoenolpyruvate carboxykinase (GTP) deficiency</a></span></li><li><span class="TLline"><a href="/medgen/6708" ref="tree=MeSH" title="MedGen record for Pigmentary pallidal degeneration">Pigmentary pallidal degeneration</a></span><ul><li><span class="TLline"><a href="/medgen/1800044" ref="tree=MeSH" title="MedGen record for Atypical pantothenate kinase-associated neurodegeneration">Atypical pantothenate kinase-associated neurodegeneration</a></span></li><li><span class="TLline"><a href="/medgen/1826057" ref="tree=MeSH" title="MedGen record for Classic pantothenate kinase-associated neurodegeneration">Classic pantothenate kinase-associated neurodegeneration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1790024" ref="tree=MeSH" title="MedGen record for PIK3CA related overgrowth syndrome">PIK3CA related overgrowth syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/442876" ref="tree=MeSH" title="MedGen record for CLOVES syndrome">CLOVES syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1814459" ref="tree=MeSH" title="MedGen record for Congenital infiltrating lipomatosis of the face">Congenital infiltrating lipomatosis of the face</a></span></li><li><span class="TLline"><a href="/medgen/1651269" ref="tree=MeSH" title="MedGen record for Hemihyperplasia-multiple lipomatosis syndrome">Hemihyperplasia-multiple lipomatosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/140910" ref="tree=MeSH" title="MedGen record for Hemimegalencephaly">Hemimegalencephaly</a></span></li><li><span class="TLline"><a href="/medgen/355421" ref="tree=MeSH" title="MedGen record for Megalencephaly-capillary malformation-polymicrogyria syndrome">Megalencephaly-capillary malformation-polymicrogyria syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1673986" ref="tree=MeSH" title="MedGen record for Segmental progressive overgrowth syndrome with fibroadipose hyperplasia">Segmental progressive overgrowth syndrome with fibroadipose hyperplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1784355" ref="tree=MeSH" title="MedGen record for PIK3R1 Deficiency">PIK3R1 Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/45926" ref="tree=MeSH" title="MedGen record for Pinta disease">Pinta disease</a></span></li><li><span class="TLline"><a href="/medgen/141601" ref="tree=MeSH" title="MedGen record for Piriformis syndrome">Piriformis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/102482" ref="tree=MeSH" title="MedGen record for Pityriasis lichenoides">Pityriasis lichenoides</a></span><ul><li><span class="TLline"><a href="/medgen/57997" ref="tree=MeSH" title="MedGen record for Acute lichenoid pityriasis">Acute lichenoid pityriasis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45939" ref="tree=MeSH" title="MedGen record for Pityriasis rubra pilaris">Pityriasis rubra pilaris</a></span></li><li><span class="TLline"><a href="/medgen/10785" ref="tree=MeSH" title="MedGen record for Plague">Plague</a></span></li><li><span class="TLline"><a href="/medgen/1387546" ref="tree=MeSH" title="MedGen record for Plasma Kallikrein Deficiency">Plasma Kallikrein Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/396078" ref="tree=MeSH" title="MedGen record for Platelet-type bleeding disorder 17">Platelet-type bleeding disorder 17</a></span></li><li><span class="TLline"><a href="/medgen/45967" ref="tree=MeSH" title="MedGen record for Plummer-Vinson syndrome">Plummer-Vinson syndrome</a></span></li><li><span class="TLline"><a href="/medgen/388129" ref="tree=MeSH" title="MedGen record for Poikiloderma with neutropenia">Poikiloderma with neutropenia</a></span></li><li><span class="TLline"><a href="/medgen/10822" ref="tree=MeSH" title="MedGen record for Poland anomaly">Poland anomaly</a></span></li><li><span class="TLline"><a href="/medgen/1680556" ref="tree=MeSH" title="MedGen record for POLG-Related Spectrum Disorders">POLG-Related Spectrum Disorders</a></span></li><li><span class="TLline"><a href="/medgen/78543" ref="tree=MeSH" title="MedGen record for Popliteal pterygium syndrome">Popliteal pterygium syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1844082" ref="tree=MeSH" title="MedGen record for Autosomal dominant popliteal pterygium syndrome">Autosomal dominant popliteal pterygium syndrome</a></span></li><li><span class="TLline"><a href="/medgen/337894" ref="tree=MeSH" title="MedGen record for Bartsocas-Papas syndrome 1">Bartsocas-Papas syndrome 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78659" ref="tree=MeSH" title="MedGen record for Porphobilinogen synthase deficiency">Porphobilinogen synthase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/56453" ref="tree=MeSH" title="MedGen record for Porphyria cutanea tarda">Porphyria cutanea tarda</a></span><ul><li><span class="TLline"><a href="/medgen/75669" ref="tree=MeSH" title="MedGen record for Familial porphyria cutanea tarda">Familial porphyria cutanea tarda</a></span></li><li><span class="TLline"><a href="/medgen/57940" ref="tree=MeSH" title="MedGen record for Hepatoerythropoietic porphyria">Hepatoerythropoietic porphyria</a></span></li><li><span class="TLline"><a href="/medgen/357391" ref="tree=MeSH" title="MedGen record for Sporadic porphyria cutanea tarda">Sporadic porphyria cutanea tarda</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/444010" ref="tree=MeSH" title="MedGen record for Potocki-Lupski syndrome">Potocki-Lupski syndrome</a></span></li><li><span class="TLline"><a href="/medgen/318657" ref="tree=MeSH" title="MedGen record for Potocki-Shaffer syndrome">Potocki-Shaffer syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75779" ref="tree=MeSH" title="MedGen record for Prekallikrein deficiency">Prekallikrein deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/987194" ref="tree=MeSH" title="MedGen record for Inherited prekallikrein deficiency">Inherited prekallikrein deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3467" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia">Primary ciliary dyskinesia</a></span><ul><li><span class="TLline"><a href="/medgen/1393107" ref="tree=MeSH" title="MedGen record for Ciliary dyskinesia, primary, 36, X-linked">Ciliary dyskinesia, primary, 36, X-linked</a></span></li><li><span class="TLline"><a href="/medgen/1615746" ref="tree=MeSH" title="MedGen record for Ciliary dyskinesia, primary, 37">Ciliary dyskinesia, primary, 37</a></span></li><li><span class="TLline"><a href="/medgen/1648465" ref="tree=MeSH" title="MedGen record for Ciliary dyskinesia, primary, 38">Ciliary dyskinesia, primary, 38</a></span></li><li><span class="TLline"><a href="/medgen/1646059" ref="tree=MeSH" title="MedGen record for Kartagener syndrome">Kartagener syndrome</a></span></li><li><span class="TLline"><a href="/medgen/338258" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 2">Primary ciliary dyskinesia 2</a></span></li><li><span class="TLline"><a href="/medgen/325210" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 3">Primary ciliary dyskinesia 3</a></span></li><li><span class="TLline"><a href="/medgen/324841" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 4">Primary ciliary dyskinesia 4</a></span></li><li><span class="TLline"><a href="/medgen/324840" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 5">Primary ciliary dyskinesia 5</a></span></li><li><span class="TLline"><a href="/medgen/370930" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 6">Primary ciliary dyskinesia 6</a></span></li><li><span class="TLline"><a href="/medgen/394834" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 7">Primary ciliary dyskinesia 7</a></span></li><li><span class="TLline"><a href="/medgen/393653" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 8">Primary ciliary dyskinesia 8</a></span></li><li><span class="TLline"><a href="/medgen/390990" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 9">Primary ciliary dyskinesia 9</a></span></li><li><span class="TLline"><a href="/medgen/382707" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 10">Primary ciliary dyskinesia 10</a></span></li><li><span class="TLline"><a href="/medgen/390741" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 11">Primary ciliary dyskinesia 11</a></span></li><li><span class="TLline"><a href="/medgen/436379" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 12">Primary ciliary dyskinesia 12</a></span></li><li><span class="TLline"><a href="/medgen/413399" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 13">Primary ciliary dyskinesia 13</a></span></li><li><span class="TLline"><a href="/medgen/462486" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 14">Primary ciliary dyskinesia 14</a></span></li><li><span class="TLline"><a href="/medgen/462487" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 15">Primary ciliary dyskinesia 15</a></span></li><li><span class="TLline"><a href="/medgen/462810" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 16">Primary ciliary dyskinesia 16</a></span></li><li><span class="TLline"><a href="/medgen/762261" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 17">Primary ciliary dyskinesia 17</a></span></li><li><span class="TLline"><a href="/medgen/762331" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 18">Primary ciliary dyskinesia 18</a></span></li><li><span class="TLline"><a href="/medgen/762332" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 19">Primary ciliary dyskinesia 19</a></span></li><li><span class="TLline"><a href="/medgen/761920" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 20">Primary ciliary dyskinesia 20</a></span></li><li><span class="TLline"><a href="/medgen/815417" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 21">Primary ciliary dyskinesia 21</a></span></li><li><span class="TLline"><a href="/medgen/815873" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 22">Primary ciliary dyskinesia 22</a></span></li><li><span class="TLline"><a href="/medgen/815878" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 23">Primary ciliary dyskinesia 23</a></span></li><li><span class="TLline"><a href="/medgen/815964" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 24">Primary ciliary dyskinesia 24</a></span></li><li><span class="TLline"><a href="/medgen/815971" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 25">Primary ciliary dyskinesia 25</a></span></li><li><span class="TLline"><a href="/medgen/816014" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 26">Primary ciliary dyskinesia 26</a></span></li><li><span class="TLline"><a href="/medgen/816031" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 27">Primary ciliary dyskinesia 27</a></span></li><li><span class="TLline"><a href="/medgen/816036" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 28">Primary ciliary dyskinesia 28</a></span></li><li><span class="TLline"><a href="/medgen/862971" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 29">Primary ciliary dyskinesia 29</a></span></li><li><span class="TLline"><a href="/medgen/863453" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 30">Primary ciliary dyskinesia 30</a></span></li><li><span class="TLline"><a href="/medgen/896106" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 32">Primary ciliary dyskinesia 32</a></span></li><li><span class="TLline"><a href="/medgen/898734" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 33">Primary ciliary dyskinesia 33</a></span></li><li><span class="TLline"><a href="/medgen/934689" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 34">Primary ciliary dyskinesia 34</a></span></li><li><span class="TLline"><a href="/medgen/934688" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 35">Primary ciliary dyskinesia 35</a></span></li><li><span class="TLline"><a href="/medgen/340938" ref="tree=MeSH" title="MedGen record for Stromme syndrome">Stromme syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/183649" ref="tree=MeSH" title="MedGen record for Primary familial hypertrophic cardiomyopathy">Primary familial hypertrophic cardiomyopathy</a></span><ul><li><span class="TLline"><a href="/medgen/1648325" ref="tree=MeSH" title="MedGen record for Cardiomyopathy, familial hypertrophic 27">Cardiomyopathy, familial hypertrophic 27</a></span></li><li><span class="TLline"><a href="/medgen/864707" ref="tree=MeSH" title="MedGen record for Cardiomyopathy, hypertrophic, midventricular, digenic">Cardiomyopathy, hypertrophic, midventricular, digenic</a></span></li><li><span class="TLline"><a href="/medgen/501195" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 1">Hypertrophic cardiomyopathy 1</a></span></li><li><span class="TLline"><a href="/medgen/349383" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 2">Hypertrophic cardiomyopathy 2</a></span></li><li><span class="TLline"><a href="/medgen/349382" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 3">Hypertrophic cardiomyopathy 3</a></span></li><li><span class="TLline"><a href="/medgen/350526" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 4">Hypertrophic cardiomyopathy 4</a></span></li><li><span class="TLline"><a href="/medgen/331466" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 6">Hypertrophic cardiomyopathy 6</a></span></li><li><span class="TLline"><a href="/medgen/348695" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 7">Hypertrophic cardiomyopathy 7</a></span></li><li><span class="TLline"><a href="/medgen/324806" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 8">Hypertrophic cardiomyopathy 8</a></span></li><li><span class="TLline"><a href="/medgen/348780" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 9">Hypertrophic cardiomyopathy 9</a></span></li><li><span class="TLline"><a href="/medgen/331754" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 10">Hypertrophic cardiomyopathy 10</a></span></li><li><span class="TLline"><a href="/medgen/436962" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 11">Hypertrophic cardiomyopathy 11</a></span></li><li><span class="TLline"><a href="/medgen/393755" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 12">Hypertrophic cardiomyopathy 12</a></span></li><li><span class="TLline"><a href="/medgen/442487" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 13">Hypertrophic cardiomyopathy 13</a></span></li><li><span class="TLline"><a href="/medgen/442484" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 14">Hypertrophic cardiomyopathy 14</a></span></li><li><span class="TLline"><a href="/medgen/413312" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 15">Hypertrophic cardiomyopathy 15</a></span></li><li><span class="TLline"><a href="/medgen/462554" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 16">Hypertrophic cardiomyopathy 16</a></span></li><li><span class="TLline"><a href="/medgen/462614" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 17">Hypertrophic cardiomyopathy 17</a></span></li><li><span class="TLline"><a href="/medgen/462615" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 18">Hypertrophic cardiomyopathy 18</a></span></li><li><span class="TLline"><a href="/medgen/450078" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 19">Hypertrophic cardiomyopathy 19</a></span></li><li><span class="TLline"><a href="/medgen/462617" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 20">Hypertrophic cardiomyopathy 20</a></span></li><li><span class="TLline"><a href="/medgen/766356" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 21">Hypertrophic cardiomyopathy 21</a></span></li><li><span class="TLline"><a href="/medgen/934716" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 26">Hypertrophic cardiomyopathy 26</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57591" ref="tree=MeSH" title="MedGen record for Primary lateral sclerosis">Primary lateral sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/79466" ref="tree=MeSH" title="MedGen record for Primary progressive aphasia">Primary progressive aphasia</a></span><ul><li><span class="TLline"><a href="/medgen/907332" ref="tree=MeSH" title="MedGen record for Logopenic progressive aphasia">Logopenic progressive aphasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/18290" ref="tree=MeSH" title="MedGen record for Progressive bulbar palsy">Progressive bulbar palsy</a></span><ul><li><span class="TLline"><a href="/medgen/163239" ref="tree=MeSH" title="MedGen record for Brown-Vialetto-van Laere syndrome 1">Brown-Vialetto-van Laere syndrome 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/214634" ref="tree=MeSH" title="MedGen record for Progressive muscular atrophy">Progressive muscular atrophy</a></span></li><li><span class="TLline"><a href="/medgen/4698" ref="tree=MeSH" title="MedGen record for Progressive myositis ossificans">Progressive myositis ossificans</a></span></li><li><span class="TLline"><a href="/medgen/21026" ref="tree=MeSH" title="MedGen record for Progressive supranuclear palsy">Progressive supranuclear palsy</a></span><ul><li><span class="TLline"><a href="/medgen/1779597" ref="tree=MeSH" title="MedGen record for Atypical progressive supranuclear palsy syndrome">Atypical progressive supranuclear palsy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1640811" ref="tree=MeSH" title="MedGen record for Supranuclear palsy, progressive, 1">Supranuclear palsy, progressive, 1</a></span></li><li><span class="TLline"><a href="/medgen/324446" ref="tree=MeSH" title="MedGen record for Supranuclear palsy, progressive, 2">Supranuclear palsy, progressive, 2</a></span></li><li><span class="TLline"><a href="/medgen/370922" ref="tree=MeSH" title="MedGen record for Supranuclear palsy, progressive, 3">Supranuclear palsy, progressive, 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/120647" ref="tree=MeSH" title="MedGen record for Prolidase deficiency">Prolidase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/39008" ref="tree=MeSH" title="MedGen record for Proteus syndrome">Proteus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/18718" ref="tree=MeSH" title="MedGen record for Prune belly syndrome">Prune belly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98378" ref="tree=MeSH" title="MedGen record for Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome">Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/60133" ref="tree=MeSH" title="MedGen record for Pseudoexfoliation glaucoma">Pseudoexfoliation glaucoma</a></span></li><li><span class="TLline"><a href="/medgen/10991" ref="tree=MeSH" title="MedGen record for Pseudohermaphroditism">Pseudohermaphroditism</a></span></li><li><span class="TLline"><a href="/medgen/18721" ref="tree=MeSH" title="MedGen record for Pseudohypoaldosteronism">Pseudohypoaldosteronism</a></span><ul><li><span class="TLline"><a href="/medgen/82805" ref="tree=MeSH" title="MedGen record for Pseudohypoaldosteronism type 1">Pseudohypoaldosteronism type 1</a></span><ul><li><span class="TLline"><a href="/medgen/260623" ref="tree=MeSH" title="MedGen record for Autosomal dominant pseudohypoaldosteronism type 1">Autosomal dominant pseudohypoaldosteronism type 1</a></span></li><li><span class="TLline"><a href="/medgen/1823950" ref="tree=MeSH" title="MedGen record for Pseudohypoaldosteronism, type IB1, autosomal recessive">Pseudohypoaldosteronism, type IB1, autosomal recessive</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/259599" ref="tree=MeSH" title="MedGen record for Pseudohypoaldosteronism, type 2">Pseudohypoaldosteronism, type 2</a></span><ul><li><span class="TLline"><a href="/medgen/327088" ref="tree=MeSH" title="MedGen record for Pseudohypoaldosteronism type 2A">Pseudohypoaldosteronism type 2A</a></span></li><li><span class="TLline"><a href="/medgen/374457" ref="tree=MeSH" title="MedGen record for Pseudohypoaldosteronism type 2B">Pseudohypoaldosteronism type 2B</a></span></li><li><span class="TLline"><a href="/medgen/327089" ref="tree=MeSH" title="MedGen record for Pseudohypoaldosteronism type 2C">Pseudohypoaldosteronism type 2C</a></span></li><li><span class="TLline"><a href="/medgen/483335" ref="tree=MeSH" title="MedGen record for Pseudohypoaldosteronism type 2D">Pseudohypoaldosteronism type 2D</a></span></li><li><span class="TLline"><a href="/medgen/483336" ref="tree=MeSH" title="MedGen record for Pseudohypoaldosteronism type 2E">Pseudohypoaldosteronism type 2E</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/900190" ref="tree=MeSH" title="MedGen record for Transient pseudohypoaldosteronism">Transient pseudohypoaldosteronism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/488447" ref="tree=MeSH" title="MedGen record for Pseudohypoparathyroidism type I A">Pseudohypoparathyroidism type I A</a></span><ul><li><span class="TLline"><a href="/medgen/10995" ref="tree=MeSH" title="MedGen record for Pseudopseudohypoparathyroidism">Pseudopseudohypoparathyroidism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/18733" ref="tree=MeSH" title="MedGen record for Pseudoxanthoma elasticum">Pseudoxanthoma elasticum</a></span><ul><li><span class="TLline"><a href="/medgen/698082" ref="tree=MeSH" title="MedGen record for Acquired pseudoxanthoma elasticum">Acquired pseudoxanthoma elasticum</a></span></li><li><span class="TLline"><a href="/medgen/698415" ref="tree=MeSH" title="MedGen record for Autosomal recessive inherited pseudoxanthoma elasticum">Autosomal recessive inherited pseudoxanthoma elasticum</a></span></li><li><span class="TLline"><a href="/medgen/697574" ref="tree=MeSH" title="MedGen record for Inherited pseudoxanthoma elasticum">Inherited pseudoxanthoma elasticum</a></span><ul><li><span class="TLline"><a href="/medgen/357280" ref="tree=MeSH" title="MedGen record for Pseudoxanthoma elasticum, forme fruste">Pseudoxanthoma elasticum, forme fruste</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/18801" ref="tree=MeSH" title="MedGen record for Pyruvate carboxylase deficiency">Pyruvate carboxylase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/1842785" ref="tree=MeSH" title="MedGen record for Pyruvate carboxylase deficiency, benign type">Pyruvate carboxylase deficiency, benign type</a></span></li><li><span class="TLline"><a href="/medgen/1842180" ref="tree=MeSH" title="MedGen record for Pyruvate carboxylase deficiency, infantile form">Pyruvate carboxylase deficiency, infantile form</a></span></li><li><span class="TLline"><a href="/medgen/1842956" ref="tree=MeSH" title="MedGen record for Pyruvate carboxylase deficiency, severe neonatal type">Pyruvate carboxylase deficiency, severe neonatal type</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/19610" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase complex deficiency">Pyruvate dehydrogenase complex deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/326486" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E1-alpha deficiency">Pyruvate dehydrogenase E1-alpha deficiency</a></span></li><li><span class="TLline"><a href="/medgen/481471" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E1-beta deficiency">Pyruvate dehydrogenase E1-beta deficiency</a></span></li><li><span class="TLline"><a href="/medgen/343386" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E2 deficiency">Pyruvate dehydrogenase E2 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1805500" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E3 deficiency">Pyruvate dehydrogenase E3 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/343383" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E3-binding protein deficiency">Pyruvate dehydrogenase E3-binding protein deficiency</a></span></li><li><span class="TLline"><a href="/medgen/332448" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase phosphatase deficiency">Pyruvate dehydrogenase phosphatase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/61235" ref="tree=MeSH" title="MedGen record for Radial aplasia-thrombocytopenia syndrome">Radial aplasia-thrombocytopenia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/45995" ref="tree=MeSH" title="MedGen record for Relapsing polychondritis">Relapsing polychondritis</a></span></li><li><span class="TLline"><a href="/medgen/90999" ref="tree=MeSH" title="MedGen record for Renal carnitine transport defect">Renal carnitine transport defect</a></span></li><li><span class="TLline"><a href="/medgen/56292" ref="tree=MeSH" title="MedGen record for Retinoschisis">Retinoschisis</a></span><ul><li><span class="TLline"><a href="/medgen/436160" ref="tree=MeSH" title="MedGen record for Foveoschisis">Foveoschisis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/48441" ref="tree=MeSH" title="MedGen record for Rett syndrome">Rett syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/462055" ref="tree=MeSH" title="MedGen record for Rett syndrome, congenital variant">Rett syndrome, congenital variant</a></span></li><li><span class="TLline"><a href="/medgen/409616" ref="tree=MeSH" title="MedGen record for Severe neonatal-onset encephalopathy with microcephaly">Severe neonatal-onset encephalopathy with microcephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/887965" ref="tree=MeSH" title="MedGen record for Rhizomelic dysplasia">Rhizomelic dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/371357" ref="tree=MeSH" title="MedGen record for Rippling muscle disease 2">Rippling muscle disease 2</a></span></li><li><span class="TLline"><a href="/medgen/95931" ref="tree=MeSH" title="MedGen record for Roberts-SC phocomelia syndrome">Roberts-SC phocomelia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78535" ref="tree=MeSH" title="MedGen record for Robinow syndrome">Robinow syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1675001" ref="tree=MeSH" title="MedGen record for Autosomal dominant Robinow syndrome">Autosomal dominant Robinow syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1770070" ref="tree=MeSH" title="MedGen record for Autosomal recessive Robinow syndrome">Autosomal recessive Robinow syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/104492" ref="tree=MeSH" title="MedGen record for Russell-Silver syndrome">Russell-Silver syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1718472" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome 1">Silver-Russell syndrome 1</a></span><ul><li><span class="TLline"><a href="/medgen/1826102" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to an imprinting defect of 11p15">Silver-Russell syndrome due to an imprinting defect of 11p15</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1714148" ref="tree=MeSH" title="MedGen record for Silver-russell syndrome 2">Silver-russell syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/894912" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome 3">Silver-Russell syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/1712866" ref="tree=MeSH" title="MedGen record for Silver-russell syndrome 4">Silver-russell syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/1713787" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome 5">Silver-Russell syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/1826103" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to 11p15 microduplication">Silver-Russell syndrome due to 11p15 microduplication</a></span></li><li><span class="TLline"><a href="/medgen/1826059" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to 7p11.2p13 microduplication">Silver-Russell syndrome due to 7p11.2p13 microduplication</a></span></li><li><span class="TLline"><a href="/medgen/1843388" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to a point mutation">Silver-Russell syndrome due to a point mutation</a></span></li><li><span class="TLline"><a href="/medgen/1826074" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7">Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7</a></span></li><li><span class="TLline"><a href="/medgen/1843295" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11">Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3324" ref="tree=MeSH" title="MedGen record for Schilder disease">Schilder disease</a></span></li><li><span class="TLline"><a href="/medgen/164078" ref="tree=MeSH" title="MedGen record for Schimke immuno-osseous dysplasia">Schimke immuno-osseous dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/120517" ref="tree=MeSH" title="MedGen record for Schinzel-Giedion syndrome">Schinzel-Giedion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/20675" ref="tree=MeSH" title="MedGen record for Scimitar syndrome">Scimitar syndrome</a></span></li><li><span class="TLline"><a href="/medgen/11346" ref="tree=MeSH" title="MedGen record for Scleredema">Scleredema</a></span></li><li><span class="TLline"><a href="/medgen/120476" ref="tree=MeSH" title="MedGen record for Scleromyxedema">Scleromyxedema</a></span></li><li><span class="TLline"><a href="/medgen/120530" ref="tree=MeSH" title="MedGen record for Sclerosteosis">Sclerosteosis</a></span><ul><li><span class="TLline"><a href="/medgen/1642815" ref="tree=MeSH" title="MedGen record for Sclerosteosis 1">Sclerosteosis 1</a></span></li><li><span class="TLline"><a href="/medgen/482032" ref="tree=MeSH" title="MedGen record for Sclerosteosis 2">Sclerosteosis 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/19908" ref="tree=MeSH" title="MedGen record for Sea-blue histiocyte syndrome">Sea-blue histiocyte syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78534" ref="tree=MeSH" title="MedGen record for Seckel syndrome">Seckel syndrome</a></span></li><li><span class="TLline"><a href="/medgen/443521" ref="tree=MeSH" title="MedGen record for Selective Antibody Deficiency with Normal Immunoglobulins">Selective Antibody Deficiency with Normal Immunoglobulins</a></span></li><li><span class="TLline"><a href="/medgen/90926" ref="tree=MeSH" title="MedGen record for Septo-optic dysplasia sequence">Septo-optic dysplasia sequence</a></span></li><li><span class="TLline"><a href="/medgen/856639" ref="tree=MeSH" title="MedGen record for Short Stature Homeobox Deficiency">Short Stature Homeobox Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/231160" ref="tree=MeSH" title="MedGen record for Shprintzen-Goldberg syndrome">Shprintzen-Goldberg syndrome</a></span></li><li><span class="TLline"><a href="/medgen/87466" ref="tree=MeSH" title="MedGen record for Sitosterolemia">Sitosterolemia</a></span></li><li><span class="TLline"><a href="/medgen/7331" ref="tree=MeSH" title="MedGen record for Situs inversus with levocardia">Situs inversus with levocardia</a></span></li><li><span class="TLline"><a href="/medgen/11443" ref="tree=MeSH" title="MedGen record for Sjögren-Larsson syndrome">Sjögren-Larsson syndrome</a></span></li><li><span class="TLline"><a href="/medgen/61231" ref="tree=MeSH" title="MedGen record for Smith-Lemli-Opitz syndrome">Smith-Lemli-Opitz syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162881" ref="tree=MeSH" title="MedGen record for Smith-Magenis syndrome">Smith-Magenis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/61232" ref="tree=MeSH" title="MedGen record for Sotos syndrome">Sotos syndrome</a></span></li><li><span class="TLline"><a href="/medgen/101818" ref="tree=MeSH" title="MedGen record for Spasmodic torticollis">Spasmodic torticollis</a></span></li><li><span class="TLline"><a href="/medgen/7755" ref="tree=MeSH" title="MedGen record for Spinal muscular atrophy">Spinal muscular atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/870465" ref="tree=MeSH" title="MedGen record for Acute infantile spinal muscular atrophy">Acute infantile spinal muscular atrophy</a></span></li><li><span class="TLline"><a href="/medgen/101816" ref="tree=MeSH" title="MedGen record for Kugelberg-Welander disease">Kugelberg-Welander disease</a></span></li><li><span class="TLline"><a href="/medgen/906831" ref="tree=MeSH" title="MedGen record for Progressive spinal muscular atrophy">Progressive spinal muscular atrophy</a></span></li><li><span class="TLline"><a href="/medgen/21913" ref="tree=MeSH" title="MedGen record for Proximal Hereditary Motor Neuropathy Type I">Proximal Hereditary Motor Neuropathy Type I</a></span></li><li><span class="TLline"><a href="/medgen/870510" ref="tree=MeSH" title="MedGen record for Proximal spinal muscular atrophy">Proximal spinal muscular atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/95975" ref="tree=MeSH" title="MedGen record for Spinal muscular atrophy, type II">Spinal muscular atrophy, type II</a></span></li><li><span class="TLline"><a href="/medgen/325364" ref="tree=MeSH" title="MedGen record for Spinal muscular atrophy, type IV">Spinal muscular atrophy, type IV</a></span></li><li><span class="TLline"><a href="/medgen/1845578" ref="tree=MeSH" title="MedGen record for Werdnig-Hoffmann disease">Werdnig-Hoffmann disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/148615" ref="tree=MeSH" title="MedGen record for Spinal Muscular Atrophy of Childhood">Spinal Muscular Atrophy of Childhood</a></span></li><li><span class="TLline"><a href="/medgen/355801" ref="tree=MeSH" title="MedGen record for Spinal muscular atrophy, segmental">Spinal muscular atrophy, segmental</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/266247" ref="tree=MeSH" title="MedGen record for Sponastrime dysplasia">Sponastrime dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/350960" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia with multiple dislocations">Spondyloepimetaphyseal dysplasia with multiple dislocations</a></span></li><li><span class="TLline"><a href="/medgen/163223" ref="tree=MeSH" title="MedGen record for Spondyloperipheral dysplasia">Spondyloperipheral dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/52484" ref="tree=MeSH" title="MedGen record for Staphylococcal scalded skin syndrome">Staphylococcal scalded skin syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75734" ref="tree=MeSH" title="MedGen record for Stargardt disease">Stargardt disease</a></span><ul><li><span class="TLline"><a href="/medgen/383691" ref="tree=MeSH" title="MedGen record for Severe early-childhood-onset retinal dystrophy">Severe early-childhood-onset retinal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/333146" ref="tree=MeSH" title="MedGen record for Stargardt disease 3">Stargardt disease 3</a></span></li><li><span class="TLline"><a href="/medgen/355004" ref="tree=MeSH" title="MedGen record for Stargardt disease 4">Stargardt disease 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/863232" ref="tree=MeSH" title="MedGen record for STAT3-related early-onset multisystem autoimmune disease">STAT3-related early-onset multisystem autoimmune disease</a></span></li><li><span class="TLline"><a href="/medgen/11586" ref="tree=MeSH" title="MedGen record for Status epilepticus">Status epilepticus</a></span><ul><li><span class="TLline"><a href="/medgen/39303" ref="tree=MeSH" title="MedGen record for Epilepsia partialis continua">Epilepsia partialis continua</a></span></li><li><span class="TLline"><a href="/medgen/1713873" ref="tree=MeSH" title="MedGen record for Refractory status epilepticus">Refractory status epilepticus</a></span><ul><li><span class="TLline"><a href="/medgen/1708961" ref="tree=MeSH" title="MedGen record for Super-refractory status epilepticus">Super-refractory status epilepticus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1720011" ref="tree=MeSH" title="MedGen record for Status epilepticus with prominent motor symptoms">Status epilepticus with prominent motor symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/137148" ref="tree=MeSH" title="MedGen record for Convulsive status epilepticus">Convulsive status epilepticus</a></span></li><li><span class="TLline"><a href="/medgen/1716066" ref="tree=MeSH" title="MedGen record for Focal motor status epilepticus">Focal motor status epilepticus</a></span></li><li><span class="TLline"><a href="/medgen/1714344" ref="tree=MeSH" title="MedGen record for Hyperkinetic status epilepticus">Hyperkinetic status epilepticus</a></span></li><li><span class="TLline"><a href="/medgen/1712171" ref="tree=MeSH" title="MedGen record for Myoclonic status epilepticus">Myoclonic status epilepticus</a></span></li><li><span class="TLline"><a href="/medgen/1717093" ref="tree=MeSH" title="MedGen record for Tonic status epilepticus">Tonic status epilepticus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/199677" ref="tree=MeSH" title="MedGen record for Status epilepticus without prominent motor symptoms">Status epilepticus without prominent motor symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/1718567" ref="tree=MeSH" title="MedGen record for Non-convulsive status epilepticus with coma">Non-convulsive status epilepticus with coma</a></span></li><li><span class="TLline"><a href="/medgen/1715409" ref="tree=MeSH" title="MedGen record for Non-convulsive status epilepticus without coma">Non-convulsive status epilepticus without coma</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/120521" ref="tree=MeSH" title="MedGen record for Stickler syndrome">Stickler syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1765197" ref="tree=MeSH" title="MedGen record for Autosomal recessive Stickler syndrome">Autosomal recessive Stickler syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341234" ref="tree=MeSH" title="MedGen record for Otospondylomegaepiphyseal dysplasia, autosomal dominant">Otospondylomegaepiphyseal dysplasia, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/810955" ref="tree=MeSH" title="MedGen record for Stickler syndrome type 1">Stickler syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/347615" ref="tree=MeSH" title="MedGen record for Stickler syndrome type 2">Stickler syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/481571" ref="tree=MeSH" title="MedGen record for Stickler syndrome, type 4">Stickler syndrome, type 4</a></span></li><li><span class="TLline"><a href="/medgen/481972" ref="tree=MeSH" title="MedGen record for Stickler syndrome, type 5">Stickler syndrome, type 5</a></span></li><li><span class="TLline"><a href="/medgen/1823980" ref="tree=MeSH" title="MedGen record for Stickler syndrome, type 6">Stickler syndrome, type 6</a></span></li><li><span class="TLline"><a href="/medgen/322820" ref="tree=MeSH" title="MedGen record for Stickler syndrome, type I, nonsyndromic ocular">Stickler syndrome, type I, nonsyndromic ocular</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/348877" ref="tree=MeSH" title="MedGen record for Stiff skin syndrome">Stiff skin syndrome</a></span></li><li><span class="TLline"><a href="/medgen/39017" ref="tree=MeSH" title="MedGen record for Stiff-man syndrome">Stiff-man syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1842410" ref="tree=MeSH" title="MedGen record for Classic stiff person syndrome">Classic stiff person syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1672496" ref="tree=MeSH" title="MedGen record for Focal stiff limb syndrome">Focal stiff limb syndrome</a></span></li><li><span class="TLline"><a href="/medgen/349287" ref="tree=MeSH" title="MedGen record for Progressive encephalomyelitis with rigidity and myoclonus">Progressive encephalomyelitis with rigidity and myoclonus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/52527" ref="tree=MeSH" title="MedGen record for Subacute sclerosing panencephalitis">Subacute sclerosing panencephalitis</a></span></li><li><span class="TLline"><a href="/medgen/224724" ref="tree=MeSH" title="MedGen record for SUNCT syndrome">SUNCT syndrome</a></span></li><li><span class="TLline"><a href="/medgen/21404" ref="tree=MeSH" title="MedGen record for Superior mesenteric artery syndrome">Superior mesenteric artery syndrome</a></span></li><li><span class="TLline"><a href="/medgen/476151" ref="tree=MeSH" title="MedGen record for Surfactant Protein Deficiency">Surfactant Protein Deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/410074" ref="tree=MeSH" title="MedGen record for Interstitial lung disease due to ABCA3 deficiency">Interstitial lung disease due to ABCA3 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/368844" ref="tree=MeSH" title="MedGen record for Surfactant metabolism dysfunction, pulmonary, 1">Surfactant metabolism dysfunction, pulmonary, 1</a></span></li><li><span class="TLline"><a href="/medgen/476155" ref="tree=MeSH" title="MedGen record for Surfactant Protein A Deficiency">Surfactant Protein A Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/476152" ref="tree=MeSH" title="MedGen record for Surfactant Protein C Deficiency">Surfactant Protein C Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/476154" ref="tree=MeSH" title="MedGen record for Surfactant Protein D Deficiency">Surfactant Protein D Deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78107" ref="tree=MeSH" title="MedGen record for Swyer James Syndrome">Swyer James Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/96071" ref="tree=MeSH" title="MedGen record for Symmetrical dyschromatosis of extremities">Symmetrical dyschromatosis of extremities</a></span></li><li><span class="TLline"><a href="/medgen/437845" ref="tree=MeSH" title="MedGen record for Synpolydactyly">Synpolydactyly</a></span><ul><li><span class="TLline"><a href="/medgen/1809573" ref="tree=MeSH" title="MedGen record for Synpolydactyly type 1">Synpolydactyly type 1</a></span></li><li><span class="TLline"><a href="/medgen/331290" ref="tree=MeSH" title="MedGen record for Synpolydactyly type 2">Synpolydactyly type 2</a></span></li><li><span class="TLline"><a href="/medgen/344005" ref="tree=MeSH" title="MedGen record for Synpolydactyly type 3">Synpolydactyly type 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/21449" ref="tree=MeSH" title="MedGen record for Syringomyelia">Syringomyelia</a></span><ul><li><span class="TLline"><a href="/medgen/721465" ref="tree=MeSH" title="MedGen record for Primary syringomyelia">Primary syringomyelia</a></span><ul><li><span class="TLline"><a href="/medgen/1842994" ref="tree=MeSH" title="MedGen record for Familial syringomyelia">Familial syringomyelia</a></span></li><li><span class="TLline"><a href="/medgen/1378771" ref="tree=MeSH" title="MedGen record for Idiopathic syringomyelia">Idiopathic syringomyelia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1649806" ref="tree=MeSH" title="MedGen record for Secondary syringomyelia">Secondary syringomyelia</a></span></li><li><span class="TLline"><a href="/medgen/888087" ref="tree=MeSH" title="MedGen record for Syringomyelia and Hydromyelia">Syringomyelia and Hydromyelia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/366029" ref="tree=MeSH" title="MedGen record for Takotsubo cardiomyopathy">Takotsubo cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/11713" ref="tree=MeSH" title="MedGen record for Tay-Sachs disease">Tay-Sachs disease</a></span><ul><li><span class="TLline"><a href="/medgen/468543" ref="tree=MeSH" title="MedGen record for Juvenile (Subacute) Hexosaminidase A Deficiency">Juvenile (Subacute) Hexosaminidase A Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/336450" ref="tree=MeSH" title="MedGen record for Tay-Sachs disease, B variant, adult form">Tay-Sachs disease, B variant, adult form</a></span></li><li><span class="TLline"><a href="/medgen/1863558" ref="tree=MeSH" title="MedGen record for Tay-Sachs disease, b variant, infantile form">Tay-Sachs disease, b variant, infantile form</a></span></li><li><span class="TLline"><a href="/medgen/1863740" ref="tree=MeSH" title="MedGen record for Tay-Sachs disease, b variant, juvenile form">Tay-Sachs disease, b variant, juvenile form</a></span></li><li><span class="TLline"><a href="/medgen/336452" ref="tree=MeSH" title="MedGen record for Tay-Sachs disease, B1 variant">Tay-Sachs disease, B1 variant</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/12182" ref="tree=MeSH" title="MedGen record for Tear film insufficiency">Tear film insufficiency</a></span></li><li><span class="TLline"><a href="/medgen/21158" ref="tree=MeSH" title="MedGen record for Thoracic outlet syndrome">Thoracic outlet syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/365116" ref="tree=MeSH" title="MedGen record for Arterial thoracic outlet syndrome">Arterial thoracic outlet syndrome</a></span></li><li><span class="TLline"><a href="/medgen/3337" ref="tree=MeSH" title="MedGen record for Arterial thoracic outlet syndrome due to cervical rib">Arterial thoracic outlet syndrome due to cervical rib</a></span></li><li><span class="TLline"><a href="/medgen/155880" ref="tree=MeSH" title="MedGen record for Neurogenic thoracic outlet syndrome">Neurogenic thoracic outlet syndrome</a></span></li><li><span class="TLline"><a href="/medgen/408326" ref="tree=MeSH" title="MedGen record for Venous thoracic outlet syndrome">Venous thoracic outlet syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/349976" ref="tree=MeSH" title="MedGen record for Thrombocytopenia 2">Thrombocytopenia 2</a></span></li><li><span class="TLline"><a href="/medgen/289647" ref="tree=MeSH" title="MedGen record for Thyroid dysgenesis">Thyroid dysgenesis</a></span><ul><li><span class="TLline"><a href="/medgen/78591" ref="tree=MeSH" title="MedGen record for Ectopic thyroid">Ectopic thyroid</a></span><ul><li><span class="TLline"><a href="/medgen/867994" ref="tree=MeSH" title="MedGen record for Accessory ectopic thyroid tissue">Accessory ectopic thyroid tissue</a></span></li><li><span class="TLline"><a href="/medgen/78592" ref="tree=MeSH" title="MedGen record for Lingual thyroid">Lingual thyroid</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/424854" ref="tree=MeSH" title="MedGen record for Thyroid hormone resistance syndrome">Thyroid hormone resistance syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1654700" ref="tree=MeSH" title="MedGen record for Generalized resistance to thyroid hormone">Generalized resistance to thyroid hormone</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1374188" ref="tree=MeSH" title="MedGen record for Tissue Kallikrein Deficiency">Tissue Kallikrein Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/21575" ref="tree=MeSH" title="MedGen record for Togaviridae infectious disease">Togaviridae infectious disease</a></span><ul><li><span class="TLline"><a href="/medgen/64650" ref="tree=MeSH" title="MedGen record for Alphavirus infectious disease">Alphavirus infectious disease</a></span><ul><li><span class="TLline"><a href="/medgen/3362" ref="tree=MeSH" title="MedGen record for Chikungunya fever">Chikungunya fever</a></span></li><li><span class="TLline"><a href="/medgen/8605" ref="tree=MeSH" title="MedGen record for Encephalomyelitis, Equine">Encephalomyelitis, Equine</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/64651" ref="tree=MeSH" title="MedGen record for Disease caused by Rubivirus">Disease caused by Rubivirus</a></span><ul><li><span class="TLline"><a href="/medgen/48514" ref="tree=MeSH" title="MedGen record for Rubella">Rubella</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/21197" ref="tree=MeSH" title="MedGen record for Tolosa-Hunt syndrome">Tolosa-Hunt syndrome</a></span></li><li><span class="TLline"><a href="/medgen/137939" ref="tree=MeSH" title="MedGen record for Tracheobronchomalacia">Tracheobronchomalacia</a></span><ul><li><span class="TLline"><a href="/medgen/82679" ref="tree=MeSH" title="MedGen record for Bronchomalacia">Bronchomalacia</a></span></li><li><span class="TLline"><a href="/medgen/1814106" ref="tree=MeSH" title="MedGen record for Cartilaginous tracheobronchomalacia">Cartilaginous tracheobronchomalacia</a></span></li><li><span class="TLline"><a href="/medgen/1813883" ref="tree=MeSH" title="MedGen record for Excessive dynamic airway collapse">Excessive dynamic airway collapse</a></span></li><li><span class="TLline"><a href="/medgen/215296" ref="tree=MeSH" title="MedGen record for Tracheomalacia">Tracheomalacia</a></span><ul><li><span class="TLline"><a href="/medgen/107947" ref="tree=MeSH" title="MedGen record for Laryngotracheomalacia">Laryngotracheomalacia</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/137976" ref="tree=MeSH" title="MedGen record for Transcobalamin II deficiency">Transcobalamin II deficiency</a></span></li><li><span class="TLline"><a href="/medgen/83275" ref="tree=MeSH" title="MedGen record for Transient global amnesia">Transient global amnesia</a></span></li><li><span class="TLline"><a href="/medgen/21245" ref="tree=MeSH" title="MedGen record for Transposition of the great arteries">Transposition of the great arteries</a></span><ul><li><span class="TLline"><a href="/medgen/462571" ref="tree=MeSH" title="MedGen record for Congenital heart defects, multiple types, 6">Congenital heart defects, multiple types, 6</a></span></li><li><span class="TLline"><a href="/medgen/87489" ref="tree=MeSH" title="MedGen record for Congenitally corrected transposition of the great arteries">Congenitally corrected transposition of the great arteries</a></span><ul><li><span class="TLline"><a href="/medgen/868861" ref="tree=MeSH" title="MedGen record for Congenitally corrected transposition of the great arteries with ventricular septal defect">Congenitally corrected transposition of the great arteries with ventricular septal defect</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/699062" ref="tree=MeSH" title="MedGen record for D - transposition of the great vessels">D - transposition of the great vessels</a></span></li><li><span class="TLline"><a href="/medgen/1812310" ref="tree=MeSH" title="MedGen record for Dextro-looped transposition of the great arteries">Dextro-looped transposition of the great arteries</a></span><ul><li><span class="TLline"><a href="/medgen/1843053" ref="tree=MeSH" title="MedGen record for Congenitally uncorrected transposition of the great arteries with cardiac malformation">Congenitally uncorrected transposition of the great arteries with cardiac malformation</a></span></li><li><span class="TLline"><a href="/medgen/1842891" ref="tree=MeSH" title="MedGen record for Congenitally uncorrected transposition of the great arteries with coarctation">Congenitally uncorrected transposition of the great arteries with coarctation</a></span></li><li><span class="TLline"><a href="/medgen/1842921" ref="tree=MeSH" title="MedGen record for Isolated congenitally uncorrected transposition of the great arteries">Isolated congenitally uncorrected transposition of the great arteries</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/768659" ref="tree=MeSH" title="MedGen record for Dextro-Transposition of the Great Vessels with Intact Ventricular Septum">Dextro-Transposition of the Great Vessels with Intact Ventricular Septum</a></span></li><li><span class="TLline"><a href="/medgen/768660" ref="tree=MeSH" title="MedGen record for Dextro-Transposition of the Great Vessels with Ventricular Septal Defect">Dextro-Transposition of the Great Vessels with Ventricular Septal Defect</a></span></li><li><span class="TLline"><a href="/medgen/758887" ref="tree=MeSH" title="MedGen record for Dextrotransposition of the great arteries">Dextrotransposition of the great arteries</a></span></li><li><span class="TLline"><a href="/medgen/41649" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle">Double outlet right ventricle</a></span><ul><li><span class="TLline"><a href="/medgen/1842277" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy">Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy</a></span></li><li><span class="TLline"><a href="/medgen/489000" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis">Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/868837" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis">Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/365501" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with non-committed subpulmonary ventricular septal defect">Double outlet right ventricle with non-committed subpulmonary ventricular septal defect</a></span></li><li><span class="TLline"><a href="/medgen/868836" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis">Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/868835" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis">Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/1843284" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subaortic or doubly committed ventricular septal defect">Double outlet right ventricle with subaortic or doubly committed ventricular septal defect</a></span></li><li><span class="TLline"><a href="/medgen/798712" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis">Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/868834" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis">Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/868833" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis">Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/365502" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subpulmonary ventricular septal defect">Double outlet right ventricle with subpulmonary ventricular septal defect</a></span></li><li><span class="TLline"><a href="/medgen/868832" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis">Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/408331" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis">Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/237904" ref="tree=MeSH" title="MedGen record for Heterotaxy, visceral, 2, autosomal">Heterotaxy, visceral, 2, autosomal</a></span></li><li><span class="TLline"><a href="/medgen/476121" ref="tree=MeSH" title="MedGen record for Levo-Transposition of the Great Arteries">Levo-Transposition of the Great Arteries</a></span></li><li><span class="TLline"><a href="/medgen/699035" ref="tree=MeSH" title="MedGen record for Levotransposition of the great arteries">Levotransposition of the great arteries</a></span></li><li><span class="TLline"><a href="/medgen/332422" ref="tree=MeSH" title="MedGen record for Transposition of the great arteries, dextro-looped">Transposition of the great arteries, dextro-looped</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66078" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome">Treacher Collins syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/994681" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome 1">Treacher Collins syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/462333" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome 2">Treacher Collins syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/340868" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome 3">Treacher Collins syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/1712280" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome 4">Treacher Collins syndrome 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3238" ref="tree=MeSH" title="MedGen record for Triatrial heart">Triatrial heart</a></span><ul><li><span class="TLline"><a href="/medgen/488867" ref="tree=MeSH" title="MedGen record for Cor triatriatum dexter">Cor triatriatum dexter</a></span></li><li><span class="TLline"><a href="/medgen/576445" ref="tree=MeSH" title="MedGen record for Cor triatriatum sinister">Cor triatriatum sinister</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/140929" ref="tree=MeSH" title="MedGen record for Trichorhinophalangeal dysplasia type I">Trichorhinophalangeal dysplasia type I</a></span></li><li><span class="TLline"><a href="/medgen/363064" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy">Trichothiodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/355730" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy 1, photosensitive">Trichothiodystrophy 1, photosensitive</a></span></li><li><span class="TLline"><a href="/medgen/905904" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy 2, photosensitive">Trichothiodystrophy 2, photosensitive</a></span></li><li><span class="TLline"><a href="/medgen/865608" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy 3, photosensitive">Trichothiodystrophy 3, photosensitive</a></span></li><li><span class="TLline"><a href="/medgen/272036" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy 4, nonphotosensitive">Trichothiodystrophy 4, nonphotosensitive</a></span></li><li><span class="TLline"><a href="/medgen/1684762" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy 7, nonphotosensitive">Trichothiodystrophy 7, nonphotosensitive</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/90711" ref="tree=MeSH" title="MedGen record for Triploidy">Triploidy</a></span></li><li><span class="TLline"><a href="/medgen/78595" ref="tree=MeSH" title="MedGen record for True hermaphroditism">True hermaphroditism</a></span></li><li><span class="TLline"><a href="/medgen/21725" ref="tree=MeSH" title="MedGen record for Tuberculosis of meninges">Tuberculosis of meninges</a></span></li><li><span class="TLline"><a href="/medgen/21734" ref="tree=MeSH" title="MedGen record for Turner syndrome">Turner syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/116607" ref="tree=MeSH" title="MedGen record for Monosomy X">Monosomy X</a></span></li><li><span class="TLline"><a href="/medgen/873772" ref="tree=MeSH" title="MedGen record for Mosaic Turner syndrome">Mosaic Turner syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1842425" ref="tree=MeSH" title="MedGen record for Turner syndrome due to structural X chromosome anomalies">Turner syndrome due to structural X chromosome anomalies</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/181871" ref="tree=MeSH" title="MedGen record for Uniparental disomy">Uniparental disomy</a></span><ul><li><span class="TLline"><a href="/medgen/58144" ref="tree=MeSH" title="MedGen record for Angelman syndrome">Angelman syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1842258" ref="tree=MeSH" title="MedGen record for Angelman syndrome due to a point mutation">Angelman syndrome due to a point mutation</a></span></li><li><span class="TLline"><a href="/medgen/1826135" ref="tree=MeSH" title="MedGen record for Angelman syndrome due to imprinting defect in 15q11-q13">Angelman syndrome due to imprinting defect in 15q11-q13</a></span></li><li><span class="TLline"><a href="/medgen/1797757" ref="tree=MeSH" title="MedGen record for Angelman syndrome due to maternal 15q11q13 deletion">Angelman syndrome due to maternal 15q11q13 deletion</a></span></li><li><span class="TLline"><a href="/medgen/1826078" ref="tree=MeSH" title="MedGen record for Angelman syndrome due to paternal uniparental disomy of chromosome 15">Angelman syndrome due to paternal uniparental disomy of chromosome 15</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/46057" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome">Prader-Willi syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1826086" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome due to imprinting mutation">Prader-Willi syndrome due to imprinting mutation</a></span></li><li><span class="TLline"><a href="/medgen/1826079" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15">Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15</a></span></li><li><span class="TLline"><a href="/medgen/1826129" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome due to paternal 15q11q13 deletion">Prader-Willi syndrome due to paternal 15q11q13 deletion</a></span></li><li><span class="TLline"><a href="/medgen/1826085" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome due to translocation">Prader-Willi syndrome due to translocation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/197432" ref="tree=MeSH" title="MedGen record for Uniparental heterodisomy">Uniparental heterodisomy</a></span></li><li><span class="TLline"><a href="/medgen/197433" ref="tree=MeSH" title="MedGen record for Uniparental isodisomy">Uniparental isodisomy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78754" ref="tree=MeSH" title="MedGen record for Usher syndrome">Usher syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/292820" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1">Usher syndrome type 1</a></span><ul><li><span class="TLline"><a href="/medgen/419358" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1B">Usher syndrome type 1B</a></span></li><li><span class="TLline"><a href="/medgen/338506" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1C">Usher syndrome type 1C</a></span></li><li><span class="TLline"><a href="/medgen/322051" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1D">Usher syndrome type 1D</a></span></li><li><span class="TLline"><a href="/medgen/400865" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1E">Usher syndrome type 1E</a></span></li><li><span class="TLline"><a href="/medgen/356393" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1F">Usher syndrome type 1F</a></span></li><li><span class="TLline"><a href="/medgen/339683" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1G">Usher syndrome type 1G</a></span></li><li><span class="TLline"><a href="/medgen/393392" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1H">Usher syndrome type 1H</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/83288" ref="tree=MeSH" title="MedGen record for Usher syndrome type 2">Usher syndrome type 2</a></span><ul><li><span class="TLline"><a href="/medgen/419359" ref="tree=MeSH" title="MedGen record for Usher syndrome type 2C">Usher syndrome type 2C</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/339336" ref="tree=MeSH" title="MedGen record for Usher syndrome type 3">Usher syndrome type 3</a></span><ul><li><span class="TLline"><a href="/medgen/1830415" ref="tree=MeSH" title="MedGen record for Usher syndrome type 3A">Usher syndrome type 3A</a></span></li><li><span class="TLline"><a href="/medgen/482696" ref="tree=MeSH" title="MedGen record for Usher syndrome type 3B">Usher syndrome type 3B</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/61233" ref="tree=MeSH" title="MedGen record for Van der Woude syndrome">Van der Woude syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1640616" ref="tree=MeSH" title="MedGen record for Van der Woude syndrome 1">Van der Woude syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/338272" ref="tree=MeSH" title="MedGen record for Van der Woude syndrome 2">Van der Woude syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/58118" ref="tree=MeSH" title="MedGen record for Variegate porphyria">Variegate porphyria</a></span></li><li><span class="TLline"><a href="/medgen/82753" ref="tree=MeSH" title="MedGen record for Vascular ectasia of gastric antrum">Vascular ectasia of gastric antrum</a></span></li><li><span class="TLline"><a href="/medgen/854382" ref="tree=MeSH" title="MedGen record for Very long chain acyl-CoA dehydrogenase deficiency">Very long chain acyl-CoA dehydrogenase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/465273" ref="tree=MeSH" title="MedGen record for Visceral heterotaxy">Visceral heterotaxy</a></span><ul><li><span class="TLline"><a href="/medgen/75620" ref="tree=MeSH" title="MedGen record for Heterotaxy">Heterotaxy</a></span><ul><li><span class="TLline"><a href="/medgen/868855" ref="tree=MeSH" title="MedGen record for Abnormality of abdominal situs">Abnormality of abdominal situs</a></span></li><li><span class="TLline"><a href="/medgen/1634559" ref="tree=MeSH" title="MedGen record for Isomerism">Isomerism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/465274" ref="tree=MeSH" title="MedGen record for Right atrial isomerism">Right atrial isomerism</a></span></li><li><span class="TLline"><a href="/medgen/1642262" ref="tree=MeSH" title="MedGen record for Situs inversus">Situs inversus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/137920" ref="tree=MeSH" title="MedGen record for Vitelliform macular dystrophy">Vitelliform macular dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/334280" ref="tree=MeSH" title="MedGen record for Adult-onset foveomacular vitelliform dystrophy">Adult-onset foveomacular vitelliform dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1636950" ref="tree=MeSH" title="MedGen record for Vitelliform macular dystrophy 1">Vitelliform macular dystrophy 1</a></span></li><li><span class="TLline"><a href="/medgen/979022" ref="tree=MeSH" title="MedGen record for Vitelliform macular dystrophy 3">Vitelliform macular dystrophy 3</a></span></li><li><span class="TLline"><a href="/medgen/863779" ref="tree=MeSH" title="MedGen record for Vitelliform macular dystrophy 4">Vitelliform macular dystrophy 4</a></span></li><li><span class="TLline"><a href="/medgen/863780" ref="tree=MeSH" title="MedGen record for Vitelliform macular dystrophy 5">Vitelliform macular dystrophy 5</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/473809" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome">Waardenburg syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/376211" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 1">Waardenburg syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/398443" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 2">Waardenburg syndrome type 2</a></span><ul><li><span class="TLline"><a href="/medgen/349786" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 2A">Waardenburg syndrome type 2A</a></span></li><li><span class="TLline"><a href="/medgen/373973" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 2B">Waardenburg syndrome type 2B</a></span></li><li><span class="TLline"><a href="/medgen/335755" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 2C">Waardenburg syndrome type 2C</a></span></li><li><span class="TLline"><a href="/medgen/323102" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 2D">Waardenburg syndrome type 2D</a></span></li><li><span class="TLline"><a href="/medgen/398476" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 2E">Waardenburg syndrome type 2E</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/86948" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 3">Waardenburg syndrome type 3</a></span></li><li><span class="TLline"><a href="/medgen/341244" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 4A">Waardenburg syndrome type 4A</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75782" ref="tree=MeSH" title="MedGen record for Wandering spleen">Wandering spleen</a></span></li><li><span class="TLline"><a href="/medgen/53065" ref="tree=MeSH" title="MedGen record for Waterhouse-Friderichsen Syndrome">Waterhouse-Friderichsen Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120511" ref="tree=MeSH" title="MedGen record for Weaver syndrome">Weaver syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82705" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome">Weill-Marchesani syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/416383" ref="tree=MeSH" title="MedGen record for Weill-Marchesani 4 syndrome, recessive">Weill-Marchesani 4 syndrome, recessive</a></span></li><li><span class="TLline"><a href="/medgen/1637058" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome 1">Weill-Marchesani syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/766699" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome 3">Weill-Marchesani syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/358388" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome 2, dominant">Weill-Marchesani syndrome 2, dominant</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/83883" ref="tree=MeSH" title="MedGen record for Wernicke-Korsakoff syndrome">Wernicke-Korsakoff syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/312391" ref="tree=MeSH" title="MedGen record for Alcoholic Korsakoff syndrome">Alcoholic Korsakoff syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/11519" ref="tree=MeSH" title="MedGen record for West syndrome">West syndrome</a></span></li><li><span class="TLline"><a href="/medgen/7347" ref="tree=MeSH" title="MedGen record for Whipple disease">Whipple disease</a></span></li><li><span class="TLline"><a href="/medgen/328433" ref="tree=MeSH" title="MedGen record for White sponge nevus">White sponge nevus</a></span></li><li><span class="TLline"><a href="/medgen/59799" ref="tree=MeSH" title="MedGen record for Williams syndrome">Williams syndrome</a></span></li><li><span class="TLline"><a href="/medgen/42426" ref="tree=MeSH" title="MedGen record for Wilson disease">Wilson disease</a></span></li><li><span class="TLline"><a href="/medgen/21923" ref="tree=MeSH" title="MedGen record for Wolfram syndrome">Wolfram syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1641635" ref="tree=MeSH" title="MedGen record for Wolfram syndrome 1">Wolfram syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/347604" ref="tree=MeSH" title="MedGen record for Wolfram syndrome 2">Wolfram syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/325511" ref="tree=MeSH" title="MedGen record for Wolfram syndrome, mitochondrial form">Wolfram syndrome, mitochondrial form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/337334" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability Cabezas type">X-linked intellectual disability Cabezas type</a></span></li><li><span class="TLline"><a href="/medgen/930080" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum-Cockayne syndrome complex">Xeroderma pigmentosum-Cockayne syndrome complex</a></span></li><li><span class="TLline"><a href="/medgen/416028" ref="tree=MeSH" title="MedGen record for XXXY and XXXXY Syndrome">XXXY and XXXXY Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1786817" ref="tree=MeSH" title="MedGen record for YARSopathy">YARSopathy</a></span></li><li><span class="TLline"><a href="/medgen/113164" ref="tree=MeSH" title="MedGen record for Yellow nail syndrome">Yellow nail syndrome</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34269901">A Clinico-Pathologic Approach to the Differential Diagnosis of Pericardial Tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krywanczyk AR,
|
||
Tan CD,
|
||
Rodriguez ER</span><br />
|
||
<span class="medgenPMjournal">Curr Cardiol Rep</span>
|
||
2021 Jul 16;23(9):119.
|
||
doi: 10.1007/s11886-021-01548-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34269901" target="_blank">34269901</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32691244">Drug-Induced Neutropenia During Treatment of Non-Neoplastic Dermatologic Diseases: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hsieh CY,
|
||
Tsai TF</span><br />
|
||
<span class="medgenPMjournal">Clin Drug Investig</span>
|
||
2020 Oct;40(10):915-926.
|
||
doi: 10.1007/s40261-020-00956-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32691244" target="_blank">32691244</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29883229">Endoscopic management of primary sclerosing cholangitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tabibian JH,
|
||
Baron TH</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Gastroenterol Hepatol</span>
|
||
2018 Jul;12(7):693-703.
|
||
Epub 2018 Jun 18
|
||
doi: 10.1080/17474124.2018.1483719.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29883229" target="_blank">29883229</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(rare%20non-neoplastic%20disorder)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (10)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37374301">Ovarian Leydig Cell Tumor and Ovarian Hyperthecosis in a Postmenopausal Woman: A Case Report and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bužinskienė D,
|
||
Marčiukaitytė R,
|
||
Šidlovska E,
|
||
Rudaitis V</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2023 Jun 6;59(6)
|
||
doi: 10.3390/medicina59061097.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37374301" target="_blank">37374301</a><a href="/pmc/articles/PMC10304025" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rare%20Non-Neoplastic%20Disorder%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37374301">Ovarian Leydig Cell Tumor and Ovarian Hyperthecosis in a Postmenopausal Woman: A Case Report and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bužinskienė D,
|
||
Marčiukaitytė R,
|
||
Šidlovska E,
|
||
Rudaitis V</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2023 Jun 6;59(6)
|
||
doi: 10.3390/medicina59061097.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37374301" target="_blank">37374301</a><a href="/pmc/articles/PMC10304025" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30829677">Sclerosing Mesenteritis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Danford CJ,
|
||
Lin SC,
|
||
Wolf JL</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2019 Jun;114(6):867-873.
|
||
doi: 10.14309/ajg.0000000000000167.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30829677" target="_blank">30829677</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rare%20Non-Neoplastic%20Disorder%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30076806">Myositis Ossificans Traumatica of the Medial Pterygoid Muscle After Third Molar Tooth Extraction: A Case Report and Review of Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karaali S,
|
||
Emekli U</span><br />
|
||
<span class="medgenPMjournal">J Oral Maxillofac Surg</span>
|
||
2018 Nov;76(11):2284.e1-2284.e5.
|
||
Epub 2018 Jul 10
|
||
doi: 10.1016/j.joms.2018.06.174.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30076806" target="_blank">30076806</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rare%20Non-Neoplastic%20Disorder%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37374301">Ovarian Leydig Cell Tumor and Ovarian Hyperthecosis in a Postmenopausal Woman: A Case Report and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bužinskienė D,
|
||
Marčiukaitytė R,
|
||
Šidlovska E,
|
||
Rudaitis V</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2023 Jun 6;59(6)
|
||
doi: 10.3390/medicina59061097.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37374301" target="_blank">37374301</a><a href="/pmc/articles/PMC10304025" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30829677">Sclerosing Mesenteritis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Danford CJ,
|
||
Lin SC,
|
||
Wolf JL</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2019 Jun;114(6):867-873.
|
||
doi: 10.14309/ajg.0000000000000167.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30829677" target="_blank">30829677</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rare%20Non-Neoplastic%20Disorder%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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</div>
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<div class=" bottom">
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</div>
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|
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</div>
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</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
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||
|
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<!-- MedGen supplemental column starts here -->
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<div class="rightCol mgCol">
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(rare%20non-neoplastic%20disorder)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Rare%20Non-Neoplastic%20Disorder%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
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</div>
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