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<!--
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UID=181981
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ConceptID=C0950123
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Inborn genetic diseases</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>181981</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.">C0950123</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
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<td>Disease, Inborn Genetic; Diseases, Inborn Genetic; Genetic Disease, Inborn; Genetic Diseases, Inborn; Inborn Genetic Disease; Inborn Genetic Diseases</td></tr>
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</tbody></table></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_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent''s genome or they may be acquired in utero. [from <a title="Medical Subject Headings" href="http://www.nlm.nih.gov/pubs/factsheets/mesh.html" class="defSource" target="_blank">MeSH</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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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="TLline">Inborn genetic diseases</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/14319" ref="tree=MeSH" title="MedGen record for Congenital, Hereditary, and Neonatal Diseases and Abnormalities">Congenital, Hereditary, and Neonatal Diseases and Abnormalities</a></span><ul><li><span class="matched_ds">Inborn genetic diseases</span><ul><li><span class="TLline"><a href="/medgen/67461" ref="tree=MeSH" title="MedGen record for Alpha-1-antitrypsin deficiency">Alpha-1-antitrypsin deficiency</a></span></li><li><span class="TLline"><a href="/medgen/39014" ref="tree=MeSH" title="MedGen record for Arteriohepatic dysplasia">Arteriohepatic dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/1826025" ref="tree=MeSH" title="MedGen record for Alagille syndrome due to 20p12 microdeletion">Alagille syndrome due to 20p12 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/365434" ref="tree=MeSH" title="MedGen record for Alagille syndrome due to a JAG1 point mutation">Alagille syndrome due to a JAG1 point mutation</a></span></li><li><span class="TLline"><a href="/medgen/341844" ref="tree=MeSH" title="MedGen record for Alagille syndrome due to a NOTCH2 point mutation">Alagille syndrome due to a NOTCH2 point mutation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/439" ref="tree=MeSH" title="MedGen record for Ataxia-telangiectasia syndrome">Ataxia-telangiectasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/231300" ref="tree=MeSH" title="MedGen record for Autoimmune lymphoproliferative syndrome type 1">Autoimmune lymphoproliferative syndrome type 1</a></span><ul><li><span class="TLline"><a href="/medgen/356454" ref="tree=MeSH" title="MedGen record for Autoimmune lymphoproliferative syndrome type 1, autosomal recessive">Autoimmune lymphoproliferative syndrome type 1, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/356453" ref="tree=MeSH" title="MedGen record for Autoimmune lymphoproliferative syndrome, type 1a">Autoimmune lymphoproliferative syndrome, type 1a</a></span></li><li><span class="TLline"><a href="/medgen/356158" ref="tree=MeSH" title="MedGen record for AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB">AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB</a></span></li><li><span class="TLline"><a href="/medgen/274327" ref="tree=MeSH" title="MedGen record for Type 3 autoimmune lymphoproliferative syndrome">Type 3 autoimmune lymphoproliferative syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/222975" ref="tree=MeSH" title="MedGen record for Brugada syndrome">Brugada syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1646402" ref="tree=MeSH" title="MedGen record for Brugada syndrome 1">Brugada syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/382031" ref="tree=MeSH" title="MedGen record for Brugada syndrome 2">Brugada syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/395633" ref="tree=MeSH" title="MedGen record for Brugada syndrome 3">Brugada syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/395632" ref="tree=MeSH" title="MedGen record for Brugada syndrome 4">Brugada syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/411607" ref="tree=MeSH" title="MedGen record for Brugada syndrome 5">Brugada syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/413473" ref="tree=MeSH" title="MedGen record for Brugada syndrome 6">Brugada syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/413472" ref="tree=MeSH" title="MedGen record for Brugada syndrome 7">Brugada syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/413928" ref="tree=MeSH" title="MedGen record for Brugada syndrome 8">Brugada syndrome 8</a></span></li></ul></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/75567" ref="tree=MeSH" title="MedGen record for CHARGE syndrome">CHARGE syndrome</a></span></li><li><span class="TLline"><a href="/medgen/908923" ref="tree=MeSH" title="MedGen record for Ciliopathy">Ciliopathy</a></span><ul><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/156019" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome">Bardet-Biedl syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/422452" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 1">Bardet-Biedl syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/422453" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 2">Bardet-Biedl syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/347179" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 3">Bardet-Biedl syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/423627" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 4">Bardet-Biedl syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/856141" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 5">Bardet-Biedl syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/347610" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 6">Bardet-Biedl syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/347180" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 7">Bardet-Biedl syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/347181" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 8">Bardet-Biedl syndrome 8</a></span></li><li><span class="TLline"><a href="/medgen/347182" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 9">Bardet-Biedl syndrome 9</a></span></li><li><span class="TLline"><a href="/medgen/347909" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 10">Bardet-Biedl syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/395295" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 11">Bardet-Biedl syndrome 11</a></span></li><li><span class="TLline"><a href="/medgen/347910" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 12">Bardet-Biedl syndrome 12</a></span></li><li><span class="TLline"><a href="/medgen/393032" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 13">Bardet-Biedl syndrome 13</a></span></li><li><span class="TLline"><a href="/medgen/393033" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 14">Bardet-Biedl syndrome 14</a></span></li><li><span class="TLline"><a href="/medgen/461477" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 15">Bardet-Biedl syndrome 15</a></span></li><li><span class="TLline"><a href="/medgen/855172" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 16">Bardet-Biedl syndrome 16</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/91070" ref="tree=MeSH" title="MedGen record for Birt-Hogg-Dube syndrome">Birt-Hogg-Dube syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1051978" ref="tree=MeSH" title="MedGen record for Birt-Hogg-Dube syndrome 1">Birt-Hogg-Dube syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1841312" ref="tree=MeSH" title="MedGen record for Birt-Hogg-Dube syndrome 2">Birt-Hogg-Dube syndrome 2</a></span></li></ul></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/226897" ref="tree=MeSH" title="MedGen record for Carpenter syndrome">Carpenter syndrome</a></span></li><li><span class="TLline"><a href="/medgen/900688" ref="tree=MeSH" title="MedGen record for Complex lethal osteochondrodysplasia">Complex lethal osteochondrodysplasia</a></span></li><li><span class="TLline"><a href="/medgen/120531" ref="tree=MeSH" title="MedGen record for Greig cephalopolysyndactyly syndrome">Greig cephalopolysyndactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419335" ref="tree=MeSH" title="MedGen record for Hydrolethalus syndrome">Hydrolethalus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1799564" ref="tree=MeSH" title="MedGen record for NEK9-related lethal skeletal dysplasia">NEK9-related lethal skeletal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/993107" ref="tree=MeSH" title="MedGen record for Oral-facial-digital syndrome with short stature and brachymesophalangy">Oral-facial-digital syndrome with short stature and brachymesophalangy</a></span></li><li><span class="TLline"><a href="/medgen/9639" ref="tree=MeSH" title="MedGen record for Polycystic kidney disease">Polycystic kidney disease</a></span><ul><li><span class="TLline"><a href="/medgen/88404" ref="tree=MeSH" title="MedGen record for Autosomal dominant polycystic kidney disease">Autosomal dominant polycystic kidney disease</a></span></li><li><span class="TLline"><a href="/medgen/39076" ref="tree=MeSH" title="MedGen record for Autosomal recessive polycystic kidney disease">Autosomal recessive polycystic kidney disease</a></span></li><li><span class="TLline"><a href="/medgen/539836" ref="tree=MeSH" title="MedGen record for Microcystic renal disease">Microcystic renal disease</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/762199" ref="tree=MeSH" title="MedGen record for Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome">Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/42458" ref="tree=MeSH" title="MedGen record for Von Hippel-Lindau syndrome">Von Hippel-Lindau syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/7900" ref="tree=MeSH" title="MedGen record for Congenital adrenal hyperplasia">Congenital adrenal hyperplasia</a></span><ul><li><span class="TLline"><a href="/medgen/452446" ref="tree=MeSH" title="MedGen record for 3 beta-Hydroxysteroid dehydrogenase deficiency">3 beta-Hydroxysteroid dehydrogenase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/925006" ref="tree=MeSH" title="MedGen record for Adrenal Gland Hyperplasia II">Adrenal Gland Hyperplasia II</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/1390311" ref="tree=MeSH" title="MedGen record for Classic congenital adrenal hyperplasia">Classic congenital adrenal hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/424833" ref="tree=MeSH" title="MedGen record for Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency">Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/1826062" ref="tree=MeSH" title="MedGen record for Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form">Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form</a></span></li><li><span class="TLline"><a href="/medgen/1826061" ref="tree=MeSH" title="MedGen record for Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form">Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/348008" ref="tree=MeSH" title="MedGen record for Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency">Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/83341" ref="tree=MeSH" title="MedGen record for Congenital lipoid adrenal hyperplasia due to STAR deficency">Congenital lipoid adrenal hyperplasia due to STAR deficency</a></span><ul><li><span class="TLline"><a href="/medgen/1842881" ref="tree=MeSH" title="MedGen record for Classic congenital lipoid adrenal hyperplasia due to STAR deficency">Classic congenital lipoid adrenal hyperplasia due to STAR deficency</a></span></li><li><span class="TLline"><a href="/medgen/1842170" ref="tree=MeSH" title="MedGen record for Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency">Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82783" ref="tree=MeSH" title="MedGen record for Deficiency of steroid 11-beta-monooxygenase">Deficiency of steroid 11-beta-monooxygenase</a></span></li><li><span class="TLline"><a href="/medgen/82782" ref="tree=MeSH" title="MedGen record for Deficiency of steroid 17-alpha-monooxygenase">Deficiency of steroid 17-alpha-monooxygenase</a></span></li><li><span class="TLline"><a href="/medgen/137971" ref="tree=MeSH" title="MedGen record for Macronodular adrenal hyperplasia">Macronodular adrenal hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/575066" ref="tree=MeSH" title="MedGen record for Micronodular adrenal hyperplasia">Micronodular adrenal hyperplasia</a></span><ul><li><span class="TLline"><a href="/medgen/1374375" ref="tree=MeSH" title="MedGen record for Isolated Non-Pigmented Micronodular Adrenal Hyperplasia">Isolated Non-Pigmented Micronodular Adrenal Hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/1382077" ref="tree=MeSH" title="MedGen record for Primary Pigmented Nodular Adrenal Dysplasia">Primary Pigmented Nodular Adrenal Dysplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/926241" ref="tree=MeSH" title="MedGen record for Multinodular Adrenal Hyperplasia">Multinodular Adrenal Hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/90982" ref="tree=MeSH" title="MedGen record for Non-classic congenital adrenal hyperplasia">Non-classic congenital adrenal hyperplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3441" ref="tree=MeSH" title="MedGen record for Congenital chromosomal disease">Congenital chromosomal disease</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/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/422333" ref="tree=MeSH" title="MedGen record for 22q11 Deletion Syndrome">22q11 Deletion Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/4297" ref="tree=MeSH" title="MedGen record for DiGeorge syndrome">DiGeorge syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/408255" ref="tree=MeSH" title="MedGen record for 4p partial monosomy syndrome">4p partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/41345" ref="tree=MeSH" title="MedGen record for 5p partial monosomy syndrome">5p partial monosomy syndrome</a></span></li><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/1843454" ref="tree=MeSH" title="MedGen record for Autosomal anomaly">Autosomal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/977694" ref="tree=MeSH" title="MedGen record for Autosomal monosomy">Autosomal monosomy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/199033" ref="tree=MeSH" title="MedGen record for Autosomal chromosomal disorder">Autosomal chromosomal disorder</a></span><ul><li><span class="TLline"><a href="/medgen/162780" ref="tree=MeSH" title="MedGen record for Chromosome 13q trisomy">Chromosome 13q trisomy</a></span></li><li><span class="TLline"><a href="/medgen/167068" ref="tree=MeSH" title="MedGen record for Chromosome 3, trisomy 3p">Chromosome 3, trisomy 3p</a></span></li><li><span class="TLline"><a href="/medgen/419839" ref="tree=MeSH" title="MedGen record for Chromosome 5, trisomy 5p">Chromosome 5, trisomy 5p</a></span></li><li><span class="TLline"><a href="/medgen/56261" ref="tree=MeSH" title="MedGen record for Complete trisomy 13 syndrome">Complete trisomy 13 syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120542" ref="tree=MeSH" title="MedGen record for Complete trisomy 20 syndrome">Complete trisomy 20 syndrome</a></span></li><li><span class="TLline"><a href="/medgen/4385" ref="tree=MeSH" title="MedGen record for Down syndrome">Down syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98158" ref="tree=MeSH" title="MedGen record for Trisomy 8">Trisomy 8</a></span></li><li><span class="TLline"><a href="/medgen/1384417" ref="tree=MeSH" title="MedGen record for Trisomy 18">Trisomy 18</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2562" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome">Beckwith-Wiedemann syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1826104" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to 11p15 microdeletion">Beckwith-Wiedemann syndrome due to 11p15 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/1826126" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to 11p15 microduplication">Beckwith-Wiedemann syndrome due to 11p15 microduplication</a></span></li><li><span class="TLline"><a href="/medgen/1826105" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion">Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion</a></span></li><li><span class="TLline"><a href="/medgen/1826157" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to CDKN1C mutation">Beckwith-Wiedemann syndrome due to CDKN1C mutation</a></span></li><li><span class="TLline"><a href="/medgen/1842606" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to imprinting defect of 11p15">Beckwith-Wiedemann syndrome due to imprinting defect of 11p15</a></span></li><li><span class="TLline"><a href="/medgen/1825953" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to NSD1 mutation">Beckwith-Wiedemann syndrome due to NSD1 mutation</a></span></li><li><span class="TLline"><a href="/medgen/1843183" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11">Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11</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/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/82693" ref="tree=MeSH" title="MedGen record for Melnick-Fraser syndrome">Melnick-Fraser syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1641418" ref="tree=MeSH" title="MedGen record for Mosaic variegated aneuploidy syndrome">Mosaic variegated aneuploidy syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/338026" ref="tree=MeSH" title="MedGen record for Mosaic variegated aneuploidy syndrome 1">Mosaic variegated aneuploidy syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/481473" ref="tree=MeSH" title="MedGen record for Mosaic variegated aneuploidy syndrome 2">Mosaic variegated aneuploidy syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/1616382" ref="tree=MeSH" title="MedGen record for Mosaic variegated aneuploidy syndrome 3">Mosaic variegated aneuploidy syndrome 3</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/988614" ref="tree=MeSH" title="MedGen record for Ring chromosome anomaly">Ring chromosome anomaly</a></span></li><li><span class="TLline"><a href="/medgen/48517" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome">Rubinstein-Taybi syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/350477" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome due to 16p13.3 microdeletion">Rubinstein-Taybi syndrome due to 16p13.3 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/1639327" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome due to CREBBP mutations">Rubinstein-Taybi syndrome due to CREBBP mutations</a></span></li><li><span class="TLline"><a href="/medgen/462291" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency">Rubinstein-Taybi syndrome due to EP300 haploinsufficiency</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></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/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><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/183658" ref="tree=MeSH" title="MedGen record for Sex-linked hereditary disorder">Sex-linked hereditary disorder</a></span><ul><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/14518" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome">Orofaciodigital syndrome</a></span></li><li><span class="TLline"><a href="/medgen/423530" ref="tree=MeSH" title="MedGen record for Sex chromosome disorder of sex development">Sex chromosome disorder of sex development</a></span></li></ul></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/1379406" ref="tree=MeSH" title="MedGen record for Trisomy 13 Syndromes">Trisomy 13 Syndromes</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></ul></li><li><span class="TLline"><a href="/medgen/1899" ref="tree=MeSH" title="MedGen record for Congenital Indifference to Pain">Congenital Indifference to Pain</a></span></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/108454" ref="tree=MeSH" title="MedGen record for Costello syndrome">Costello syndrome</a></span></li><li><span class="TLline"><a href="/medgen/41393" ref="tree=MeSH" title="MedGen record for Cystic fibrosis">Cystic fibrosis</a></span><ul><li><span class="TLline"><a href="/medgen/639765" ref="tree=MeSH" title="MedGen record for Cystic fibrosis associated meconium ileus">Cystic fibrosis associated meconium ileus</a></span></li><li><span class="TLline"><a href="/medgen/888330" ref="tree=MeSH" title="MedGen record for Cystic Fibrosis Pulmonary Exacerbation">Cystic Fibrosis Pulmonary Exacerbation</a></span></li></ul></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/1919" ref="tree=MeSH" title="MedGen record for Familial hemolytic anemia">Familial hemolytic anemia</a></span><ul><li><span class="TLline"><a href="/medgen/543748" ref="tree=MeSH" title="MedGen record for Anemia due to membrane defect">Anemia due to membrane defect</a></span><ul><li><span class="TLline"><a href="/medgen/41747" ref="tree=MeSH" title="MedGen record for Hereditary elliptocytosis">Hereditary elliptocytosis</a></span></li><li><span class="TLline"><a href="/medgen/52450" ref="tree=MeSH" title="MedGen record for Hereditary spherocytosis">Hereditary spherocytosis</a></span></li><li><span class="TLline"><a href="/medgen/584930" ref="tree=MeSH" title="MedGen record for Infantile pyknocytosis">Infantile pyknocytosis</a></span></li><li><span class="TLline"><a href="/medgen/141708" ref="tree=MeSH" title="MedGen record for Pyropoikilocytosis, hereditary">Pyropoikilocytosis, hereditary</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></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/284" ref="tree=MeSH" title="MedGen record for Congenital nonspherocytic hemolytic anemia">Congenital nonspherocytic hemolytic anemia</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/287" ref="tree=MeSH" title="MedGen record for Hb SS disease">Hb SS disease</a></span><ul><li><span class="TLline"><a href="/medgen/196643" ref="tree=MeSH" title="MedGen record for Acute chest syndrome">Acute chest syndrome</a></span></li><li><span class="TLline"><a href="/medgen/20750" ref="tree=MeSH" title="MedGen record for Sickle cell trait">Sickle cell trait</a></span></li><li><span class="TLline"><a href="/medgen/5496" ref="tree=MeSH" title="MedGen record for Sickle cell-hemoglobin C disease">Sickle cell-hemoglobin C disease</a></span></li><li><span class="TLline"><a href="/medgen/1388035" ref="tree=MeSH" title="MedGen record for Sickle Cell-SS Disease">Sickle Cell-SS Disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6789" ref="tree=MeSH" title="MedGen record for Hemoglobin C disease">Hemoglobin C disease</a></span></li><li><span class="TLline"><a href="/medgen/21121" ref="tree=MeSH" title="MedGen record for Thalassemia">Thalassemia</a></span><ul><li><span class="TLline"><a href="/medgen/1434" ref="tree=MeSH" title="MedGen record for alpha Thalassemia">alpha Thalassemia</a></span></li><li><span class="TLline"><a href="/medgen/2611" ref="tree=MeSH" title="MedGen record for beta Thalassemia">beta Thalassemia</a></span></li><li><span class="TLline"><a href="/medgen/459441" ref="tree=MeSH" title="MedGen record for Beta Thalassemia Plus Structural Variants">Beta Thalassemia Plus Structural Variants</a></span></li><li><span class="TLline"><a href="/medgen/78791" ref="tree=MeSH" title="MedGen record for delta Thalassemia">delta Thalassemia</a></span></li><li><span class="TLline"><a href="/medgen/414290" ref="tree=MeSH" title="MedGen record for S-Beta Thalassemia">S-Beta Thalassemia</a></span></li><li><span class="TLline"><a href="/medgen/1755933" ref="tree=MeSH" title="MedGen record for Transfusion Dependent Thalassemia">Transfusion Dependent Thalassemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/349893" ref="tree=MeSH" title="MedGen record for Triosephosphate isomerase deficiency">Triosephosphate isomerase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/698553" ref="tree=MeSH" title="MedGen record for Familial multiple lipomatosis">Familial multiple lipomatosis</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/215533" ref="tree=MeSH" title="MedGen record for Frasier syndrome">Frasier syndrome</a></span></li><li><span class="TLline"><a href="/medgen/20779" ref="tree=MeSH" title="MedGen record for Genodermatosis">Genodermatosis</a></span><ul><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></li><li><span class="TLline"><a href="/medgen/38147" ref="tree=MeSH" title="MedGen record for Ocular albinism">Ocular albinism</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><li><span class="TLline"><a href="/medgen/36250" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism">Oculocutaneous albinism</a></span></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/41502" ref="tree=MeSH" title="MedGen record for Atopic eczema">Atopic eczema</a></span><ul><li><span class="TLline"><a href="/medgen/350353" ref="tree=MeSH" title="MedGen record for Dermatitis, atopic">Dermatitis, atopic</a></span></li><li><span class="TLline"><a href="/medgen/340100" ref="tree=MeSH" title="MedGen record for Dermatitis, atopic, 2">Dermatitis, atopic, 2</a></span></li><li><span class="TLline"><a href="/medgen/344173" ref="tree=MeSH" title="MedGen record for Dermatitis, atopic, 3">Dermatitis, atopic, 3</a></span></li><li><span class="TLline"><a href="/medgen/340099" ref="tree=MeSH" title="MedGen record for Dermatitis, atopic, 4">Dermatitis, atopic, 4</a></span></li><li><span class="TLline"><a href="/medgen/381292" ref="tree=MeSH" title="MedGen record for Dermatitis, atopic, 5">Dermatitis, atopic, 5</a></span></li><li><span class="TLline"><a href="/medgen/344154" ref="tree=MeSH" title="MedGen record for Dermatitis, atopic, 6">Dermatitis, atopic, 6</a></span></li><li><span class="TLline"><a href="/medgen/414058" ref="tree=MeSH" title="MedGen record for Dermatitis, atopic, 7">Dermatitis, atopic, 7</a></span></li><li><span class="TLline"><a href="/medgen/462113" ref="tree=MeSH" title="MedGen record for Dermatitis, atopic, 8">Dermatitis, atopic, 8</a></span></li><li><span class="TLline"><a href="/medgen/462114" ref="tree=MeSH" title="MedGen record for Dermatitis, atopic, 9">Dermatitis, atopic, 9</a></span></li><li><span class="TLline"><a href="/medgen/870398" ref="tree=MeSH" title="MedGen record for Late onset atopic dermatitis">Late onset atopic dermatitis</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/86936" ref="tree=MeSH" title="MedGen record for Congenital ichthyosiform erythroderma">Congenital ichthyosiform erythroderma</a></span><ul><li><span class="TLline"><a href="/medgen/38180" ref="tree=MeSH" title="MedGen record for Congenital nonbullous ichthyosiform erythroderma">Congenital nonbullous ichthyosiform erythroderma</a></span></li><li><span class="TLline"><a href="/medgen/38179" ref="tree=MeSH" title="MedGen record for Epidermolytic ichthyosis">Epidermolytic ichthyosis</a></span></li><li><span class="TLline"><a href="/medgen/78578" ref="tree=MeSH" title="MedGen record for Ichthyosis linearis circumflexa">Ichthyosis linearis circumflexa</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8206" ref="tree=MeSH" title="MedGen record for Cutis laxa">Cutis laxa</a></span><ul><li><span class="TLline"><a href="/medgen/347942" ref="tree=MeSH" title="MedGen record for Arterial tortuosity syndrome">Arterial tortuosity syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78663" ref="tree=MeSH" title="MedGen record for Autosomal recessive cutis laxa type 1">Autosomal recessive cutis laxa type 1</a></span></li><li><span class="TLline"><a href="/medgen/393947" ref="tree=MeSH" title="MedGen record for Craniofaciofrontodigital syndrome">Craniofaciofrontodigital syndrome</a></span></li><li><span class="TLline"><a href="/medgen/442566" ref="tree=MeSH" title="MedGen record for Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies">Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies</a></span></li><li><span class="TLline"><a href="/medgen/120630" ref="tree=MeSH" title="MedGen record for Cutis laxa, autosomal dominant">Cutis laxa, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/82793" ref="tree=MeSH" title="MedGen record for Cutis laxa, X-linked">Cutis laxa, X-linked</a></span></li><li><span class="TLline"><a href="/medgen/82794" ref="tree=MeSH" title="MedGen record for de Barsy syndrome">de Barsy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98149" ref="tree=MeSH" title="MedGen record for Geroderma osteodysplastica">Geroderma osteodysplastica</a></span></li><li><span class="TLline"><a href="/medgen/1673111" ref="tree=MeSH" title="MedGen record for Lethal arteriopathy syndrome due to fibulin-4 deficiency">Lethal arteriopathy syndrome due to fibulin-4 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/154379" ref="tree=MeSH" title="MedGen record for Redundant skin">Redundant skin</a></span></li><li><span class="TLline"><a href="/medgen/416526" ref="tree=MeSH" title="MedGen record for RIN2 syndrome">RIN2 syndrome</a></span></li><li><span class="TLline"><a href="/medgen/326461" ref="tree=MeSH" title="MedGen record for SCARF syndrome">SCARF syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78580" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita">Dyskeratosis congenita</a></span><ul><li><span class="TLline"><a href="/medgen/502504" ref="tree=MeSH" title="MedGen record for Autosomal recessive dyskeratosis congenita">Autosomal recessive dyskeratosis congenita</a></span></li><li><span class="TLline"><a href="/medgen/462794" ref="tree=MeSH" title="MedGen record for Autosomal recessive dyskeratosis congenita 4">Autosomal recessive dyskeratosis congenita 4</a></span></li><li><span class="TLline"><a href="/medgen/1645250" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 1">Dyskeratosis congenita, autosomal dominant 1</a></span></li><li><span class="TLline"><a href="/medgen/462793" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 2">Dyskeratosis congenita, autosomal dominant 2</a></span></li><li><span class="TLline"><a href="/medgen/462795" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 3">Dyskeratosis congenita, autosomal dominant 3</a></span></li><li><span class="TLline"><a href="/medgen/904824" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 6">Dyskeratosis congenita, autosomal dominant 6</a></span></li><li><span class="TLline"><a href="/medgen/341705" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 1">Dyskeratosis congenita, autosomal recessive 1</a></span></li><li><span class="TLline"><a href="/medgen/462791" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 2">Dyskeratosis congenita, autosomal recessive 2</a></span></li><li><span class="TLline"><a href="/medgen/462792" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 3">Dyskeratosis congenita, autosomal recessive 3</a></span></li><li><span class="TLline"><a href="/medgen/767570" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 5">Dyskeratosis congenita, autosomal recessive 5</a></span></li><li><span class="TLline"><a href="/medgen/905452" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 6">Dyskeratosis congenita, autosomal recessive 6</a></span></li><li><span class="TLline"><a href="/medgen/216941" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, X-linked">Dyskeratosis congenita, X-linked</a></span></li><li><span class="TLline"><a href="/medgen/231230" ref="tree=MeSH" title="MedGen record for Revesz syndrome">Revesz syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8544" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia">Ectodermal dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/395426" ref="tree=MeSH" title="MedGen record for Ackerman syndrome">Ackerman syndrome</a></span></li><li><span class="TLline"><a href="/medgen/87435" ref="tree=MeSH" title="MedGen record for Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes">Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes</a></span></li><li><span class="TLline"><a href="/medgen/167081" ref="tree=MeSH" title="MedGen record for Alopecia - contractures - dwarfism - intellectual disability syndrome">Alopecia - contractures - dwarfism - intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98036" ref="tree=MeSH" title="MedGen record for Amelocerebrohypohidrotic syndrome">Amelocerebrohypohidrotic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/400184" ref="tree=MeSH" title="MedGen record for Ameloonychohypohidrotic syndrome">Ameloonychohypohidrotic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/310309" ref="tree=MeSH" title="MedGen record for Anhidrotic ectodermal dysplasia">Anhidrotic ectodermal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/929406" ref="tree=MeSH" title="MedGen record for Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome">Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome</a></span></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></li><li><span class="TLline"><a href="/medgen/400144" ref="tree=MeSH" title="MedGen record for Anonychia with flexural pigmentation">Anonychia with flexural pigmentation</a></span></li><li><span class="TLline"><a href="/medgen/340124" ref="tree=MeSH" title="MedGen record for Arrhythmogenic cardiomyopathy with wooly hair and keratoderma">Arrhythmogenic cardiomyopathy with wooly hair and keratoderma</a></span></li><li><span class="TLline"><a href="/medgen/1674099" ref="tree=MeSH" title="MedGen record for Arthrogryposis-ectodermal dysplasia-other anomalies syndrome">Arthrogryposis-ectodermal dysplasia-other anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/930338" ref="tree=MeSH" title="MedGen record for Autosomal dominant palmoplantar keratoderma and congenital alopecia">Autosomal dominant palmoplantar keratoderma and congenital alopecia</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></li><li><span class="TLline"><a href="/medgen/347851" ref="tree=MeSH" title="MedGen record for Autosomal recessive palmoplantar keratoderma and congenital alopecia">Autosomal recessive palmoplantar keratoderma and congenital alopecia</a></span></li><li><span class="TLline"><a href="/medgen/230818" ref="tree=MeSH" title="MedGen record for Barber-Say syndrome">Barber-Say 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><li><span class="TLline"><a href="/medgen/349302" ref="tree=MeSH" title="MedGen record for Blepharocheilodontic syndrome">Blepharocheilodontic syndrome</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/167117" ref="tree=MeSH" title="MedGen record for Cataract-hypertrichosis-intellectual disability syndrome">Cataract-hypertrichosis-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347850" ref="tree=MeSH" title="MedGen record for Cerebellar ataxia-ectodermal dysplasia syndrome">Cerebellar ataxia-ectodermal dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341214" ref="tree=MeSH" title="MedGen record for CHIME syndrome">CHIME syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1641815" ref="tree=MeSH" title="MedGen record for Chondroectodermal dysplasia with night blindness">Chondroectodermal dysplasia with night blindness</a></span></li><li><span class="TLline"><a href="/medgen/419316" ref="tree=MeSH" title="MedGen record for Choroidal atrophy-alopecia syndrome">Choroidal atrophy-alopecia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/444067" ref="tree=MeSH" title="MedGen record for Cleft lip/palate-ectodermal dysplasia syndrome">Cleft lip/palate-ectodermal dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347428" ref="tree=MeSH" title="MedGen record for Conductive deafness-ptosis-skeletal anomalies syndrome">Conductive deafness-ptosis-skeletal anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/316921" ref="tree=MeSH" title="MedGen record for Congenital hypotrichosis with juvenile macular dystrophy">Congenital hypotrichosis with juvenile macular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/375546" ref="tree=MeSH" title="MedGen record for Contractures-ectodermal dysplasia-cleft lip/palate syndrome">Contractures-ectodermal dysplasia-cleft lip/palate syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1641011" ref="tree=MeSH" title="MedGen record for Cranioectodermal dysplasia">Cranioectodermal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/129128" ref="tree=MeSH" title="MedGen record for Cronkhite-Canada syndrome">Cronkhite-Canada syndrome</a></span></li><li><span class="TLline"><a href="/medgen/335923" ref="tree=MeSH" title="MedGen record for Curly hair - acral keratoderma - caries syndrome">Curly hair - acral keratoderma - caries syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98035" ref="tree=MeSH" title="MedGen record for Curly hair, ankyloblepharon, nail dysplasia syndrome">Curly hair, ankyloblepharon, nail dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/141594" ref="tree=MeSH" title="MedGen record for Curry-Hall syndrome">Curry-Hall syndrome</a></span></li><li><span class="TLline"><a href="/medgen/383693" ref="tree=MeSH" title="MedGen record for Dahlberg-Borer-Newcomer syndrome">Dahlberg-Borer-Newcomer syndrome</a></span></li><li><span class="TLline"><a href="/medgen/343498" ref="tree=MeSH" title="MedGen record for Deafness, enamel hypoplasia, nail defect syndrome">Deafness, enamel hypoplasia, nail defect syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419158" ref="tree=MeSH" title="MedGen record for Dennis-Fairhurst-Moore syndrome">Dennis-Fairhurst-Moore syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341742" ref="tree=MeSH" title="MedGen record for Dermatoosteolysis, Kirghizian type">Dermatoosteolysis, Kirghizian type</a></span></li><li><span class="TLline"><a href="/medgen/98037" ref="tree=MeSH" title="MedGen record for Dermatopathia pigmentosa reticularis">Dermatopathia pigmentosa reticularis</a></span></li><li><span class="TLline"><a href="/medgen/377602" ref="tree=MeSH" title="MedGen record for Dermo-odonto dysplasia">Dermo-odonto dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1672480" ref="tree=MeSH" title="MedGen record for Dermotrichic syndrome">Dermotrichic syndrome</a></span></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/764338" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia 8, hair/tooth/nail type">Ectodermal dysplasia 8, hair/tooth/nail type</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></li><li><span class="TLline"><a href="/medgen/371331" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia with natal teeth, Turnpenny type">Ectodermal dysplasia with natal teeth, Turnpenny type</a></span></li><li><span class="TLline"><a href="/medgen/314095" ref="tree=MeSH" title="MedGen record for Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant">Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant</a></span></li><li><span class="TLline"><a href="/medgen/338798" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia, trichoodontoonychial type">Ectodermal dysplasia, trichoodontoonychial type</a></span></li><li><span class="TLline"><a href="/medgen/340297" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia-blindness syndrome">Ectodermal dysplasia-blindness syndrome</a></span></li><li><span class="TLline"><a href="/medgen/462159" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia-cutaneous syndactyly syndrome">Ectodermal dysplasia-cutaneous syndactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347363" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome">Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/346503" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia-sensorineural deafness syndrome">Ectodermal dysplasia-sensorineural deafness syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1648397" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia-syndactyly syndrome">Ectodermal dysplasia-syndactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98357" ref="tree=MeSH" title="MedGen record for Ectrodactyly-ectodermal dysplasia-clefting syndrome">Ectrodactyly-ectodermal dysplasia-clefting syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341679" ref="tree=MeSH" title="MedGen record for EEM syndrome">EEM syndrome</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/388032" ref="tree=MeSH" title="MedGen record for Epidermolysis bullosa simplex due to plakophilin deficiency">Epidermolysis bullosa simplex due to plakophilin deficiency</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/445408" ref="tree=MeSH" title="MedGen record for Focal facial dermal dysplasia">Focal facial dermal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/394125" ref="tree=MeSH" title="MedGen record for Fontaine progeroid syndrome">Fontaine progeroid syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98034" ref="tree=MeSH" title="MedGen record for GAPO syndrome">GAPO syndrome</a></span></li><li><span class="TLline"><a href="/medgen/342675" ref="tree=MeSH" title="MedGen record for Gingival fibromatosis-hypertrichosis syndrome">Gingival fibromatosis-hypertrichosis 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/56416" ref="tree=MeSH" title="MedGen record for Hidrotic ectodermal dysplasia syndrome">Hidrotic ectodermal dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/371322" ref="tree=MeSH" title="MedGen record for Hidrotic ectodermal dysplasia, Christianson-Fourie type">Hidrotic ectodermal dysplasia, Christianson-Fourie type</a></span></li><li><span class="TLline"><a href="/medgen/443941" ref="tree=MeSH" title="MedGen record for Hidrotic ectodermal dysplasia, Halal type">Hidrotic ectodermal dysplasia, Halal type</a></span></li><li><span class="TLline"><a href="/medgen/99140" ref="tree=MeSH" title="MedGen record for Hyperhidrosis, premature cavities and premolar aplasia">Hyperhidrosis, premature cavities and premolar aplasia</a></span></li><li><span class="TLline"><a href="/medgen/870835" ref="tree=MeSH" title="MedGen record for Hypertrichosis cubiti-short stature syndrome">Hypertrichosis cubiti-short stature syndrome</a></span></li><li><span class="TLline"><a href="/medgen/66727" ref="tree=MeSH" title="MedGen record for Hypertrichosis lanuginosa congenita">Hypertrichosis lanuginosa congenita</a></span></li><li><span class="TLline"><a href="/medgen/1853123" ref="tree=MeSH" title="MedGen record for Hypohidrotic ectodermal dysplasia">Hypohidrotic ectodermal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/384046" ref="tree=MeSH" title="MedGen record for Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome">Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome</a></span></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/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/1371854" ref="tree=MeSH" title="MedGen record for Hypotrichosis-intellectual disability, Lopes type">Hypotrichosis-intellectual disability, Lopes type</a></span></li><li><span class="TLline"><a href="/medgen/375146" ref="tree=MeSH" title="MedGen record for Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome">Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome</a></span></li><li><span class="TLline"><a href="/medgen/344577" ref="tree=MeSH" title="MedGen record for Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome">Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome</a></span></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/59798" ref="tree=MeSH" title="MedGen record for Johanson-Blizzard syndrome">Johanson-Blizzard syndrome</a></span></li><li><span class="TLline"><a href="/medgen/167092" ref="tree=MeSH" title="MedGen record for Johnson neuroectodermal syndrome">Johnson neuroectodermal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/777082" ref="tree=MeSH" title="MedGen record for Keratitis ichthyosis and deafness syndrome">Keratitis ichthyosis and deafness syndrome</a></span></li><li><span class="TLline"><a href="/medgen/334042" ref="tree=MeSH" title="MedGen record for Lelis syndrome">Lelis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/383698" ref="tree=MeSH" title="MedGen record for Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome">Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1806249" ref="tree=MeSH" title="MedGen record for Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies">Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies</a></span></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/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/91010" ref="tree=MeSH" title="MedGen record for Naegeli-Franceschetti-Jadassohn syndrome">Naegeli-Franceschetti-Jadassohn syndrome</a></span></li><li><span class="TLline"><a href="/medgen/863424" ref="tree=MeSH" title="MedGen record for Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome">Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82706" ref="tree=MeSH" title="MedGen record for Neurocutaneous syndrome">Neurocutaneous syndrome</a></span></li><li><span class="TLline"><a href="/medgen/167236" ref="tree=MeSH" title="MedGen record for Oculodentodigital dysplasia">Oculodentodigital dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/347867" ref="tree=MeSH" title="MedGen record for Oculoosteocutaneous syndrome">Oculoosteocutaneous syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340517" ref="tree=MeSH" title="MedGen record for Oculotrichodysplasia">Oculotrichodysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1648007" ref="tree=MeSH" title="MedGen record for Odonto-onycho dysplasia-alopecia syndrome">Odonto-onycho dysplasia-alopecia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/208666" ref="tree=MeSH" title="MedGen record for Odonto-onycho-dermal dysplasia">Odonto-onycho-dermal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/400891" ref="tree=MeSH" title="MedGen record for Odonto-tricho-ungual-digito-palmar syndrome">Odonto-tricho-ungual-digito-palmar syndrome</a></span></li><li><span class="TLline"><a href="/medgen/443944" ref="tree=MeSH" title="MedGen record for Odontotrichomelic syndrome">Odontotrichomelic syndrome</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/78556" ref="tree=MeSH" title="MedGen record for Pachyonychia congenita syndrome">Pachyonychia congenita syndrome</a></span></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/1807813" ref="tree=MeSH" title="MedGen record for Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome">Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419090" ref="tree=MeSH" title="MedGen record for Pili torti-onychodysplasia syndrome">Pili torti-onychodysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/376661" ref="tree=MeSH" title="MedGen record for Pilodental dysplasia-refractive errors syndrome">Pilodental dysplasia-refractive errors syndrome</a></span></li><li><span class="TLline"><a href="/medgen/978375" ref="tree=MeSH" title="MedGen record for Pure hair and nail ectodermal dysplasia">Pure hair and nail ectodermal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/357183" ref="tree=MeSH" title="MedGen record for Scalp-ear-nipple syndrome">Scalp-ear-nipple syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347366" ref="tree=MeSH" title="MedGen record for SchC6pf-Schulz-Passarge syndrome">SchC6pf-Schulz-Passarge syndrome</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/342260" ref="tree=MeSH" title="MedGen record for Stern-Lubinsky-Durrie syndrome">Stern-Lubinsky-Durrie syndrome</a></span></li><li><span class="TLline"><a href="/medgen/376472" ref="tree=MeSH" title="MedGen record for Teebi-Shaltout syndrome">Teebi-Shaltout syndrome</a></span></li><li><span class="TLline"><a href="/medgen/348284" ref="tree=MeSH" title="MedGen record for Thumb deformity-alopecia-pigmentation anomaly syndrome">Thumb deformity-alopecia-pigmentation anomaly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/333068" ref="tree=MeSH" title="MedGen record for Toriello-Lacassie-Droste syndrome">Toriello-Lacassie-Droste syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78555" ref="tree=MeSH" title="MedGen record for Tricho-dento-osseous syndrome">Tricho-dento-osseous syndrome</a></span></li><li><span class="TLline"><a href="/medgen/96068" ref="tree=MeSH" title="MedGen record for Trichodental syndrome">Trichodental syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419092" ref="tree=MeSH" title="MedGen record for Trichodermodysplasia-dental alterations syndrome">Trichodermodysplasia-dental alterations syndrome</a></span></li><li><span class="TLline"><a href="/medgen/930013" ref="tree=MeSH" title="MedGen record for Trichodysplasia-amelogenesis imperfecta syndrome">Trichodysplasia-amelogenesis imperfecta syndrome</a></span></li><li><span class="TLline"><a href="/medgen/338532" ref="tree=MeSH" title="MedGen record for Trichomegaly-retina pigmentary degeneration-dwarfism syndrome">Trichomegaly-retina pigmentary degeneration-dwarfism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/481087" ref="tree=MeSH" title="MedGen record for Trichoodontoonychial dysplasia">Trichoodontoonychial dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/363064" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy">Trichothiodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/348658" ref="tree=MeSH" title="MedGen record for Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome">Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/375148" ref="tree=MeSH" title="MedGen record for Woolly hair-skin fragility syndrome">Woolly hair-skin fragility syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/41720" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome">Ehlers-Danlos syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/78662" ref="tree=MeSH" title="MedGen record for Arthrochalasia Ehlers-Danlos syndrome">Arthrochalasia Ehlers-Danlos syndrome</a></span></li><li><span class="TLline"><a href="/medgen/907426" ref="tree=MeSH" title="MedGen record for Bethlem myopathy 2">Bethlem myopathy 2</a></span></li><li><span class="TLline"><a href="/medgen/946156" ref="tree=MeSH" title="MedGen record for Brittle cornea syndrome">Brittle cornea syndrome</a></span></li><li><span class="TLline"><a href="/medgen/336244" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome due to tenascin-X deficiency">Ehlers-Danlos syndrome due to tenascin-X deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1841549" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome progeroid type">Ehlers-Danlos syndrome progeroid type</a></span></li><li><span class="TLline"><a href="/medgen/1645042" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, arthrochalasia type">Ehlers-Danlos syndrome, arthrochalasia type</a></span></li><li><span class="TLline"><a href="/medgen/929458" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, cardiac valvular type">Ehlers-Danlos syndrome, cardiac valvular type</a></span></li><li><span class="TLline"><a href="/medgen/909864" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, classic type">Ehlers-Danlos syndrome, classic type</a></span></li><li><span class="TLline"><a href="/medgen/78660" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, classic type, 1">Ehlers-Danlos syndrome, classic type, 1</a></span></li><li><span class="TLline"><a href="/medgen/120628" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, classic type, 2">Ehlers-Danlos syndrome, classic type, 2</a></span></li><li><span class="TLline"><a href="/medgen/1632001" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, classic-like, 2">Ehlers-Danlos syndrome, classic-like, 2</a></span></li><li><span class="TLline"><a href="/medgen/397792" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, dermatosparaxis type">Ehlers-Danlos syndrome, dermatosparaxis type</a></span></li><li><span class="TLline"><a href="/medgen/75672" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, kyphoscoliotic type 1">Ehlers-Danlos syndrome, kyphoscoliotic type 1</a></span></li><li><span class="TLline"><a href="/medgen/356497" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, musculocontractural type">Ehlers-Danlos syndrome, musculocontractural type</a></span></li><li><span class="TLline"><a href="/medgen/82791" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, periodontitis type">Ehlers-Danlos syndrome, periodontitis type</a></span></li><li><span class="TLline"><a href="/medgen/75670" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, type 3">Ehlers-Danlos syndrome, type 3</a></span></li><li><span class="TLline"><a href="/medgen/82790" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, type 4">Ehlers-Danlos syndrome, type 4</a></span></li><li><span class="TLline"><a href="/medgen/1639430" ref="tree=MeSH" title="MedGen record for Kyphoscoliotic Ehlers-Danlos syndrome">Kyphoscoliotic Ehlers-Danlos syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1814455" ref="tree=MeSH" title="MedGen record for Spondylodysplastic Ehlers-Danlos syndrome">Spondylodysplastic Ehlers-Danlos syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75671" ref="tree=MeSH" title="MedGen record for X-linked Ehlers-Danlos syndrome">X-linked Ehlers-Danlos syndrome</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></li><li><span class="TLline"><a href="/medgen/86896" ref="tree=MeSH" title="MedGen record for Epidermolysis bullosa simplex">Epidermolysis bullosa simplex</a></span></li><li><span class="TLline"><a href="/medgen/86898" ref="tree=MeSH" title="MedGen record for Junctional epidermolysis bullosa">Junctional epidermolysis bullosa</a></span></li></ul></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/102408" ref="tree=MeSH" title="MedGen record for Erythropoietic porphyria">Erythropoietic porphyria</a></span></li><li><span class="TLline"><a href="/medgen/43100" ref="tree=MeSH" title="MedGen record for Familial benign pemphigus">Familial benign pemphigus</a></span></li><li><span class="TLline"><a href="/medgen/58119" ref="tree=MeSH" title="MedGen record for Hepatic porphyria">Hepatic porphyria</a></span><ul><li><span class="TLline"><a href="/medgen/56452" ref="tree=MeSH" title="MedGen record for Acute intermittent porphyria">Acute intermittent 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/57940" ref="tree=MeSH" title="MedGen record for Hepatoerythropoietic porphyria">Hepatoerythropoietic porphyria</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/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></li><li><span class="TLline"><a href="/medgen/58118" ref="tree=MeSH" title="MedGen record for Variegate porphyria">Variegate porphyria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/199651" ref="tree=MeSH" title="MedGen record for Hereditary periodic fever syndrome">Hereditary periodic fever syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/934581" ref="tree=MeSH" title="MedGen record for Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive">Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive</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/1799987" ref="tree=MeSH" title="MedGen record for CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome">CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome</a></span></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></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></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/863713" ref="tree=MeSH" title="MedGen record for Familial cold autoinflammatory syndrome 4">Familial cold autoinflammatory syndrome 4</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></li><li><span class="TLline"><a href="/medgen/863504" ref="tree=MeSH" title="MedGen record for Periodic fever-infantile enterocolitis-autoinflammatory syndrome">Periodic fever-infantile enterocolitis-autoinflammatory syndrome</a></span></li><li><span class="TLline"><a href="/medgen/226899" ref="tree=MeSH" title="MedGen record for TNF receptor-associated periodic fever syndrome (TRAPS)">TNF receptor-associated periodic fever syndrome (TRAPS)</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/7002" ref="tree=MeSH" title="MedGen record for Ichthyosis">Ichthyosis</a></span><ul><li><span class="TLline"><a href="/medgen/78092" ref="tree=MeSH" title="MedGen record for Acquired ichthyosis">Acquired ichthyosis</a></span></li><li><span class="TLline"><a href="/medgen/854762" ref="tree=MeSH" title="MedGen record for Autosomal recessive congenital ichthyosis 2">Autosomal recessive congenital ichthyosis 2</a></span></li><li><span class="TLline"><a href="/medgen/765442" ref="tree=MeSH" title="MedGen record for Generalized ichthyosis">Generalized ichthyosis</a></span></li><li><span class="TLline"><a href="/medgen/116092" ref="tree=MeSH" title="MedGen record for Harlequin fetus">Harlequin fetus</a></span></li><li><span class="TLline"><a href="/medgen/98153" ref="tree=MeSH" title="MedGen record for Ichthyosis bullosa of Siemens">Ichthyosis bullosa of Siemens</a></span></li><li><span class="TLline"><a href="/medgen/1615578" ref="tree=MeSH" title="MedGen record for Ichthyosis follicularis">Ichthyosis follicularis</a></span></li><li><span class="TLline"><a href="/medgen/38217" ref="tree=MeSH" title="MedGen record for Ichthyosis vulgaris">Ichthyosis vulgaris</a></span></li><li><span class="TLline"><a href="/medgen/354561" ref="tree=MeSH" title="MedGen record for Palmoplantar keratoderma, epidermolytic">Palmoplantar keratoderma, epidermolytic</a></span></li><li><span class="TLline"><a href="/medgen/867218" ref="tree=MeSH" title="MedGen record for Postnatal-onset ichthyosiform erythroderma">Postnatal-onset ichthyosiform erythroderma</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/86937" ref="tree=MeSH" title="MedGen record for X-linked ichthyosis with steryl-sulfatase deficiency">X-linked ichthyosis with steryl-sulfatase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/411197" ref="tree=MeSH" title="MedGen record for Juvenile hyaline fibromatosis">Juvenile hyaline fibromatosis</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/6112" ref="tree=MeSH" title="MedGen record for Lipid proteinosis">Lipid proteinosis</a></span></li><li><span class="TLline"><a href="/medgen/231157" ref="tree=MeSH" title="MedGen record for Muir-Torré syndrome">Muir-Torré syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1635750" ref="tree=MeSH" title="MedGen record for Palmoplantar keratoderma">Palmoplantar keratoderma</a></span><ul><li><span class="TLline"><a href="/medgen/7201" ref="tree=MeSH" title="MedGen record for Diffuse palmoplantar hyperkeratosis">Diffuse palmoplantar hyperkeratosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/56518" ref="tree=MeSH" title="MedGen record for Porokeratosis">Porokeratosis</a></span><ul><li><span class="TLline"><a href="/medgen/120561" ref="tree=MeSH" title="MedGen record for Disseminated superficial actinic porokeratosis">Disseminated superficial actinic porokeratosis</a></span></li><li><span class="TLline"><a href="/medgen/56517" ref="tree=MeSH" title="MedGen record for Porokeratosis of Mantoux">Porokeratosis of Mantoux</a></span></li><li><span class="TLline"><a href="/medgen/181842" ref="tree=MeSH" title="MedGen record for Porokeratosis of Mibelli">Porokeratosis of Mibelli</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/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></li></ul></li><li><span class="TLline"><a href="/medgen/10819" ref="tree=MeSH" title="MedGen record for Rothmund-Thomson syndrome">Rothmund-Thomson syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1684764" ref="tree=MeSH" title="MedGen record for Rothmund-Thomson syndrome type 1">Rothmund-Thomson syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/1684753" ref="tree=MeSH" title="MedGen record for Rothmund-Thomson syndrome type 2">Rothmund-Thomson syndrome type 2</a></span></li></ul></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/21943" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum">Xeroderma pigmentosum</a></span><ul><li><span class="TLline"><a href="/medgen/468518" ref="tree=MeSH" title="MedGen record for ERCC1-Related Xeroderma Pigmentosum">ERCC1-Related Xeroderma Pigmentosum</a></span></li><li><span class="TLline"><a href="/medgen/82775" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum group A">Xeroderma pigmentosum group A</a></span></li><li><span class="TLline"><a href="/medgen/78643" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum group B">Xeroderma pigmentosum group B</a></span></li><li><span class="TLline"><a href="/medgen/376352" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum variant type">Xeroderma pigmentosum variant type</a></span></li><li><span class="TLline"><a href="/medgen/416702" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum, group C">Xeroderma pigmentosum, group C</a></span></li><li><span class="TLline"><a href="/medgen/75656" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum, group D">Xeroderma pigmentosum, group D</a></span></li><li><span class="TLline"><a href="/medgen/341219" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum, group E">Xeroderma pigmentosum, group E</a></span></li><li><span class="TLline"><a href="/medgen/120612" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum, group F">Xeroderma pigmentosum, group F</a></span></li><li><span class="TLline"><a href="/medgen/75657" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum, group G">Xeroderma pigmentosum, group G</a></span></li></ul></li></ul></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/42400" ref="tree=MeSH" title="MedGen record for Hemoglobinopathy">Hemoglobinopathy</a></span><ul><li><span class="TLline"><a href="/medgen/124416" ref="tree=MeSH" title="MedGen record for Hemoglobin D disease">Hemoglobin D disease</a></span></li><li><span class="TLline"><a href="/medgen/68658" ref="tree=MeSH" title="MedGen record for Hemoglobin E disease">Hemoglobin E disease</a></span></li><li><span class="TLline"><a href="/medgen/459439" ref="tree=MeSH" title="MedGen record for Hemoglobin Trait">Hemoglobin Trait</a></span><ul><li><span class="TLline"><a href="/medgen/453213" ref="tree=MeSH" title="MedGen record for Alpha Thalassemia Silent Carrier">Alpha Thalassemia Silent Carrier</a></span></li><li><span class="TLline"><a href="/medgen/99173" ref="tree=MeSH" title="MedGen record for Alpha trait thalassemia">Alpha trait thalassemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/452211" ref="tree=MeSH" title="MedGen record for Sickle cell-beta-thalassemia">Sickle cell-beta-thalassemia</a></span></li><li><span class="TLline"><a href="/medgen/452366" ref="tree=MeSH" title="MedGen record for Sickle cell-hemoglobin D disease">Sickle cell-hemoglobin D disease</a></span></li><li><span class="TLline"><a href="/medgen/1669602" ref="tree=MeSH" title="MedGen record for Sickle cell-hemoglobin E disease syndrome">Sickle cell-hemoglobin E disease syndrome</a></span></li><li><span class="TLline"><a href="/medgen/468528" ref="tree=MeSH" title="MedGen record for Sickle cell-Hemoglobin O Arab disease">Sickle cell-Hemoglobin O Arab disease</a></span></li><li><span class="TLline"><a href="/medgen/389211" ref="tree=MeSH" title="MedGen record for Sickle cell-thalassemia disease">Sickle cell-thalassemia disease</a></span><ul><li><span class="TLline"><a href="/medgen/476096" ref="tree=MeSH" title="MedGen record for Sickle Beta 0 Thalassemia">Sickle Beta 0 Thalassemia</a></span></li><li><span class="TLline"><a href="/medgen/476098" ref="tree=MeSH" title="MedGen record for Sickle Beta Plus Thalassemia">Sickle Beta Plus Thalassemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/883122" ref="tree=MeSH" title="MedGen record for Vaso-Occlusive Crisis">Vaso-Occlusive Crisis</a></span><ul><li><span class="TLline"><a href="/medgen/1793693" ref="tree=MeSH" title="MedGen record for Vaso-Occlusive Crisis in Sickle Cell-Hemoglobin C Disease">Vaso-Occlusive Crisis in Sickle Cell-Hemoglobin C Disease</a></span></li><li><span class="TLline"><a href="/medgen/1793692" ref="tree=MeSH" title="MedGen record for Vaso-Occlusive Crisis in Sickle Cell-SS Disease">Vaso-Occlusive Crisis in Sickle Cell-SS Disease</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/14326" ref="tree=MeSH" title="MedGen record for Hereditary cancer-predisposing syndrome">Hereditary cancer-predisposing syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/436213" ref="tree=MeSH" title="MedGen record for Attenuated familial adenomatous polyposis">Attenuated familial adenomatous polyposis</a></span><ul><li><span class="TLline"><a href="/medgen/1826008" ref="tree=MeSH" title="MedGen record for APC-related attenuated familial adenomatous polyposis">APC-related attenuated familial adenomatous polyposis</a></span></li><li><span class="TLline"><a href="/medgen/1826067" ref="tree=MeSH" title="MedGen record for AXIN2-related attenuated familial adenomatous polyposis">AXIN2-related attenuated familial adenomatous polyposis</a></span></li><li><span class="TLline"><a href="/medgen/474474" ref="tree=MeSH" title="MedGen record for Familial adenomatous polyposis 2">Familial adenomatous polyposis 2</a></span></li><li><span class="TLline"><a href="/medgen/902388" ref="tree=MeSH" title="MedGen record for Familial adenomatous polyposis 3">Familial adenomatous polyposis 3</a></span></li><li><span class="TLline"><a href="/medgen/978356" ref="tree=MeSH" title="MedGen record for MSH3-related attenuated familial adenomatous polyposis">MSH3-related attenuated familial adenomatous polyposis</a></span></li><li><span class="TLline"><a href="/medgen/51342" ref="tree=MeSH" title="MedGen record for Polymerase proofreading-related adenomatous polyposis">Polymerase proofreading-related adenomatous polyposis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3937" ref="tree=MeSH" title="MedGen record for B-K mole (nevus) syndrome">B-K mole (nevus) syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1631254" ref="tree=MeSH" title="MedGen record for BAP1 Tumor Predisposition Syndrome">BAP1 Tumor Predisposition Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/482122" ref="tree=MeSH" title="MedGen record for BAP1-related tumor predisposition syndrome">BAP1-related tumor predisposition syndrome</a></span></li><li><span class="TLline"><a href="/medgen/2685" ref="tree=MeSH" title="MedGen record for Bloom syndrome">Bloom syndrome</a></span></li><li><span class="TLline"><a href="/medgen/83401" ref="tree=MeSH" title="MedGen record for Blue rubber bleb nevus">Blue rubber bleb nevus</a></span></li><li><span class="TLline"><a href="/medgen/140810" ref="tree=MeSH" title="MedGen record for Carney complex">Carney complex</a></span><ul><li><span class="TLline"><a href="/medgen/340253" ref="tree=MeSH" title="MedGen record for Carney complex type 2">Carney complex type 2</a></span></li><li><span class="TLline"><a href="/medgen/388559" ref="tree=MeSH" title="MedGen record for Carney complex, type 1">Carney complex, type 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/376098" ref="tree=MeSH" title="MedGen record for Carney-Stratakis syndrome">Carney-Stratakis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1791437" ref="tree=MeSH" title="MedGen record for CDC73-Related Neoplastic Syndrome">CDC73-Related Neoplastic Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1643161" ref="tree=MeSH" title="MedGen record for Familial isolated hyperparathyroidism">Familial isolated hyperparathyroidism</a></span></li><li><span class="TLline"><a href="/medgen/310065" ref="tree=MeSH" title="MedGen record for Hyperparathyroidism 2 with jaw tumors">Hyperparathyroidism 2 with jaw tumors</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1779168" ref="tree=MeSH" title="MedGen record for CDH1-Associated Breast Carcinoma Syndrome">CDH1-Associated Breast Carcinoma Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/91079" ref="tree=MeSH" title="MedGen record for Cobb syndrome">Cobb syndrome</a></span></li><li><span class="TLline"><a href="/medgen/816383" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency due to OX40 deficiency">Combined immunodeficiency due to OX40 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/40407" ref="tree=MeSH" title="MedGen record for Common variable immunodeficiency">Common variable immunodeficiency</a></span><ul><li><span class="TLline"><a href="/medgen/766426" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency due to LRBA deficiency">Combined immunodeficiency due to LRBA deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1799211" ref="tree=MeSH" title="MedGen record for IL21-related infantile inflammatory bowel disease">IL21-related infantile inflammatory bowel disease</a></span></li><li><span class="TLline"><a href="/medgen/460728" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 1">Immunodeficiency, common variable, 1</a></span></li><li><span class="TLline"><a href="/medgen/461704" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 2">Immunodeficiency, common variable, 2</a></span></li><li><span class="TLline"><a href="/medgen/462088" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 3">Immunodeficiency, common variable, 3</a></span></li><li><span class="TLline"><a href="/medgen/462089" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 4">Immunodeficiency, common variable, 4</a></span></li><li><span class="TLline"><a href="/medgen/462090" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 5">Immunodeficiency, common variable, 5</a></span></li><li><span class="TLline"><a href="/medgen/462091" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 6">Immunodeficiency, common variable, 6</a></span></li><li><span class="TLline"><a href="/medgen/762276" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 7">Immunodeficiency, common variable, 7</a></span></li><li><span class="TLline"><a href="/medgen/816321" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 10">Immunodeficiency, common variable, 10</a></span></li><li><span class="TLline"><a href="/medgen/906018" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 12">Immunodeficiency, common variable, 12</a></span></li><li><span class="TLline"><a href="/medgen/1614928" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 14">Immunodeficiency, common variable, 14</a></span></li><li><span class="TLline"><a href="/medgen/905078" ref="tree=MeSH" title="MedGen record for Pancytopenia due to IKZF1 mutations">Pancytopenia due to IKZF1 mutations</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1378836" ref="tree=MeSH" title="MedGen record for Constitutional mismatch repair deficiency syndrome">Constitutional mismatch repair deficiency syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/78553" ref="tree=MeSH" title="MedGen record for Turcot syndrome">Turcot syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5420" ref="tree=MeSH" title="MedGen record for Cowden syndrome">Cowden syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/39008" ref="tree=MeSH" title="MedGen record for Proteus syndrome">Proteus syndrome</a></span></li></ul></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/41831" ref="tree=MeSH" title="MedGen record for Epidermodysplasia verruciformis">Epidermodysplasia verruciformis</a></span></li><li><span class="TLline"><a href="/medgen/86230" ref="tree=MeSH" title="MedGen record for Euthyroid goiter">Euthyroid goiter</a></span><ul><li><span class="TLline"><a href="/medgen/335327" ref="tree=MeSH" title="MedGen record for Euthyroid multinodular goiter">Euthyroid multinodular goiter</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/389220" ref="tree=MeSH" title="MedGen record for Familial atypical multiple mole melanoma syndrome">Familial atypical multiple mole melanoma syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/320506" ref="tree=MeSH" title="MedGen record for Melanoma, cutaneous malignant, susceptibility to, 1">Melanoma, cutaneous malignant, susceptibility to, 1</a></span></li><li><span class="TLline"><a href="/medgen/325450" ref="tree=MeSH" title="MedGen record for Melanoma-pancreatic cancer syndrome">Melanoma-pancreatic cancer syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/482833" ref="tree=MeSH" title="MedGen record for Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome">Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome</a></span></li><li><span class="TLline"><a href="/medgen/46010" ref="tree=MeSH" title="MedGen record for Familial multiple polyposis syndrome">Familial multiple polyposis syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1788749" ref="tree=MeSH" title="MedGen record for Familial adenomatous polyposis due to 5q22.2 microdeletion">Familial adenomatous polyposis due to 5q22.2 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/6547" ref="tree=MeSH" title="MedGen record for Gardner syndrome">Gardner syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1826134" ref="tree=MeSH" title="MedGen record for Turcot syndrome with polyposis">Turcot syndrome with polyposis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1657285" ref="tree=MeSH" title="MedGen record for Gastric adenocarcinoma and proximal polyposis of the stomach">Gastric adenocarcinoma and proximal polyposis of the stomach</a></span></li><li><span class="TLline"><a href="/medgen/436218" ref="tree=MeSH" title="MedGen record for Gastrointestinal stromal tumor, familial">Gastrointestinal stromal tumor, familial</a></span></li><li><span class="TLline"><a href="/medgen/1677024" ref="tree=MeSH" title="MedGen record for GCGR-related hyperglucagonemia">GCGR-related hyperglucagonemia</a></span></li><li><span class="TLline"><a href="/medgen/2554" ref="tree=MeSH" title="MedGen record for Gorlin syndrome">Gorlin syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1054819" ref="tree=MeSH" title="MedGen record for Basal cell nevus syndrome 1">Basal cell nevus syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1841087" ref="tree=MeSH" title="MedGen record for Basal cell nevus syndrome 2">Basal cell nevus syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/151793" ref="tree=MeSH" title="MedGen record for Hereditary breast ovarian cancer syndrome">Hereditary breast ovarian cancer syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/231922" ref="tree=MeSH" title="MedGen record for BRCA1-Associated Hereditary Breast and Ovarian Cancer Syndrome">BRCA1-Associated Hereditary Breast and Ovarian Cancer Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/231923" ref="tree=MeSH" title="MedGen record for BRCA2-Associated Hereditary Breast and Ovarian Cancer Syndrome">BRCA2-Associated Hereditary Breast and Ovarian Cancer Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/382914" ref="tree=MeSH" title="MedGen record for Breast-ovarian cancer, familial, susceptibility to, 1">Breast-ovarian cancer, familial, susceptibility to, 1</a></span></li><li><span class="TLline"><a href="/medgen/382625" ref="tree=MeSH" title="MedGen record for Breast-ovarian cancer, familial, susceptibility to, 2">Breast-ovarian cancer, familial, susceptibility to, 2</a></span></li><li><span class="TLline"><a href="/medgen/462009" ref="tree=MeSH" title="MedGen record for Breast-ovarian cancer, familial, susceptibility to, 3">Breast-ovarian cancer, familial, susceptibility to, 3</a></span></li><li><span class="TLline"><a href="/medgen/481975" ref="tree=MeSH" title="MedGen record for Breast-ovarian cancer, familial, susceptibility to, 4">Breast-ovarian cancer, familial, susceptibility to, 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1712465" ref="tree=MeSH" title="MedGen record for Hereditary Colorectal Cancer Syndrome">Hereditary Colorectal Cancer Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/232602" ref="tree=MeSH" title="MedGen record for Hereditary nonpolyposis colon cancer">Hereditary nonpolyposis colon cancer</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/353771" ref="tree=MeSH" title="MedGen record for Hereditary leiomyomatosis and renal cell cancer">Hereditary leiomyomatosis and renal cell cancer</a></span></li><li><span class="TLline"><a href="/medgen/1711283" ref="tree=MeSH" title="MedGen record for Hereditary Myelodysplastic Syndrome">Hereditary Myelodysplastic Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1710410" ref="tree=MeSH" title="MedGen record for SAMD9-Associated Hereditary Myelodysplastic Syndrome">SAMD9-Associated Hereditary Myelodysplastic Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1719321" ref="tree=MeSH" title="MedGen record for SAMD9L-Associated Hereditary Myelodysplastic Syndrome">SAMD9L-Associated Hereditary Myelodysplastic Syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/40399" ref="tree=MeSH" title="MedGen record for Hereditary nonpolyposis colorectal neoplasms">Hereditary nonpolyposis colorectal neoplasms</a></span><ul><li><span class="TLline"><a href="/medgen/232603" ref="tree=MeSH" title="MedGen record for Colorectal cancer, hereditary nonpolyposis, type 2">Colorectal cancer, hereditary nonpolyposis, type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/313270" ref="tree=MeSH" title="MedGen record for Hereditary pheochromocytoma-paraganglioma">Hereditary pheochromocytoma-paraganglioma</a></span><ul><li><span class="TLline"><a href="/medgen/488134" ref="tree=MeSH" title="MedGen record for Paragangliomas 1">Paragangliomas 1</a></span></li><li><span class="TLline"><a href="/medgen/357076" ref="tree=MeSH" title="MedGen record for Paragangliomas 2">Paragangliomas 2</a></span></li><li><span class="TLline"><a href="/medgen/340200" ref="tree=MeSH" title="MedGen record for Paragangliomas 3">Paragangliomas 3</a></span></li><li><span class="TLline"><a href="/medgen/349380" ref="tree=MeSH" title="MedGen record for Paragangliomas 4">Paragangliomas 4</a></span></li><li><span class="TLline"><a href="/medgen/481622" ref="tree=MeSH" title="MedGen record for Paragangliomas 5">Paragangliomas 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/155869" ref="tree=MeSH" title="MedGen record for Hereditary retinoblastoma">Hereditary retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/458917" ref="tree=MeSH" title="MedGen record for Inherited bone marrow failure syndrome">Inherited bone marrow failure syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/266045" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia">Diamond-Blackfan anemia</a></span></li><li><span class="TLline"><a href="/medgen/41967" ref="tree=MeSH" title="MedGen record for Fanconi anemia">Fanconi anemia</a></span></li><li><span class="TLline"><a href="/medgen/182696" ref="tree=MeSH" title="MedGen record for Hypoplastic anemia - familial">Hypoplastic anemia - familial</a></span></li><li><span class="TLline"><a href="/medgen/124418" ref="tree=MeSH" title="MedGen record for Shwachman syndrome">Shwachman syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/87518" ref="tree=MeSH" title="MedGen record for Juvenile polyposis syndrome">Juvenile polyposis syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/356898" ref="tree=MeSH" title="MedGen record for Generalized juvenile polyposis/juvenile polyposis coli">Generalized juvenile polyposis/juvenile polyposis coli</a></span></li><li><span class="TLline"><a href="/medgen/1778573" ref="tree=MeSH" title="MedGen record for Juvenile polyposis of infancy">Juvenile polyposis of infancy</a></span></li><li><span class="TLline"><a href="/medgen/331400" ref="tree=MeSH" title="MedGen record for Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome">Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1713491" ref="tree=MeSH" title="MedGen record for Kostmann syndrome">Kostmann syndrome</a></span></li><li><span class="TLline"><a href="/medgen/88399" ref="tree=MeSH" title="MedGen record for Li-Fraumeni syndrome">Li-Fraumeni syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/322930" ref="tree=MeSH" title="MedGen record for CHEK2-Associated Li-Fraumeni-Like Syndrome">CHEK2-Associated Li-Fraumeni-Like Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/322656" ref="tree=MeSH" title="MedGen record for Li-Fraumeni syndrome 1">Li-Fraumeni syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1849727" ref="tree=MeSH" title="MedGen record for Li-Fraumeni syndrome 2">Li-Fraumeni syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/7437" ref="tree=MeSH" title="MedGen record for Maffucci syndrome">Maffucci syndrome</a></span></li><li><span class="TLline"><a href="/medgen/331890" ref="tree=MeSH" title="MedGen record for Melanoma and neural system tumor syndrome">Melanoma and neural system tumor syndrome</a></span></li><li><span class="TLline"><a href="/medgen/463554" ref="tree=MeSH" title="MedGen record for Melanoma, cutaneous malignant, susceptibility to, 8">Melanoma, cutaneous malignant, susceptibility to, 8</a></span></li><li><span class="TLline"><a href="/medgen/1748029" ref="tree=MeSH" title="MedGen record for Mismatch repair cancer syndrome 1">Mismatch repair cancer syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/381529" ref="tree=MeSH" title="MedGen record for Monosomy 7 myelodysplasia and leukemia syndrome 1">Monosomy 7 myelodysplasia and leukemia syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/4612" ref="tree=MeSH" title="MedGen record for Multiple congenital exostosis">Multiple congenital exostosis</a></span><ul><li><span class="TLline"><a href="/medgen/377018" ref="tree=MeSH" title="MedGen record for Exostoses, multiple, type 2">Exostoses, multiple, type 2</a></span></li><li><span class="TLline"><a href="/medgen/333090" ref="tree=MeSH" title="MedGen record for Exostoses, multiple, type III">Exostoses, multiple, type III</a></span></li><li><span class="TLline"><a href="/medgen/870708" ref="tree=MeSH" title="MedGen record for Multiple digital exostoses">Multiple digital exostoses</a></span></li><li><span class="TLline"><a href="/medgen/332012" ref="tree=MeSH" title="MedGen record for Multiple long-bone exostoses">Multiple long-bone exostoses</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45036" ref="tree=MeSH" title="MedGen record for Multiple endocrine neoplasia">Multiple endocrine neoplasia</a></span><ul><li><span class="TLline"><a href="/medgen/373469" ref="tree=MeSH" title="MedGen record for Multiple endocrine neoplasia type 4">Multiple endocrine neoplasia type 4</a></span></li><li><span class="TLline"><a href="/medgen/9958" ref="tree=MeSH" title="MedGen record for Multiple endocrine neoplasia type 2A">Multiple endocrine neoplasia type 2A</a></span></li><li><span class="TLline"><a href="/medgen/9959" ref="tree=MeSH" title="MedGen record for Multiple endocrine neoplasia type 2B">Multiple endocrine neoplasia type 2B</a></span></li><li><span class="TLline"><a href="/medgen/9957" ref="tree=MeSH" title="MedGen record for Multiple endocrine neoplasia, type 1">Multiple endocrine neoplasia, type 1</a></span></li><li><span class="TLline"><a href="/medgen/887211" ref="tree=MeSH" title="MedGen record for Multiple endocrine neoplasia, type 2">Multiple endocrine neoplasia, type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/83396" ref="tree=MeSH" title="MedGen record for Multiple Self Healing Epithelioma of Ferguson-Smith">Multiple Self Healing Epithelioma of Ferguson-Smith</a></span></li><li><span class="TLline"><a href="/medgen/10221" ref="tree=MeSH" title="MedGen record for Nephroblastoma">Nephroblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/231045" ref="tree=MeSH" title="MedGen record for Adult kidney Wilms tumor">Adult kidney Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/231375" ref="tree=MeSH" title="MedGen record for Anaplastic Kidney Wilms Tumor">Anaplastic Kidney Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/83528" ref="tree=MeSH" title="MedGen record for Blastema predominant kidney Wilms tumor">Blastema predominant kidney Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/273129" ref="tree=MeSH" title="MedGen record for Cervical Wilms tumor">Cervical Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/232073" ref="tree=MeSH" title="MedGen record for Childhood kidney Wilms tumor">Childhood kidney Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/181980" ref="tree=MeSH" title="MedGen record for Drash syndrome">Drash syndrome</a></span></li><li><span class="TLline"><a href="/medgen/76000" ref="tree=MeSH" title="MedGen record for Epithelial predominant Wilms tumor">Epithelial predominant Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/146190" ref="tree=MeSH" title="MedGen record for Hereditary Wilms tumor">Hereditary Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/989515" ref="tree=MeSH" title="MedGen record for Kidney Wilms tumor">Kidney Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/233696" ref="tree=MeSH" title="MedGen record for Metachronous kidney Wilms tumor">Metachronous kidney Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/76001" ref="tree=MeSH" title="MedGen record for Mixed cell type kidney Wilms tumor">Mixed cell type kidney Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/277434" ref="tree=MeSH" title="MedGen record for Nonanaplastic kidney Wilms tumor">Nonanaplastic kidney Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/275296" ref="tree=MeSH" title="MedGen record for Ovarian Wilms tumor">Ovarian Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/1688293" ref="tree=MeSH" title="MedGen record for Paratesticular Wilms Tumor">Paratesticular Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/1697590" ref="tree=MeSH" title="MedGen record for Prostate Wilms Tumor">Prostate Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/78873" ref="tree=MeSH" title="MedGen record for Recurrent Kidney Wilms Tumor">Recurrent Kidney Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/124499" ref="tree=MeSH" title="MedGen record for Stage I Kidney Wilms Tumor">Stage I Kidney Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/75860" ref="tree=MeSH" title="MedGen record for Stage II Kidney Wilms Tumor">Stage II Kidney Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/124500" ref="tree=MeSH" title="MedGen record for Stage III Kidney Wilms Tumor">Stage III Kidney Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/78871" ref="tree=MeSH" title="MedGen record for Stage IV Kidney Wilms Tumor">Stage IV Kidney Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/78872" ref="tree=MeSH" title="MedGen record for Stage V Kidney Wilms Tumor">Stage V Kidney Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/83529" ref="tree=MeSH" title="MedGen record for Stromal predominant kidney Wilms tumor">Stromal predominant kidney Wilms tumor</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/58149" ref="tree=MeSH" title="MedGen record for Neurofibromatosis">Neurofibromatosis</a></span><ul><li><span class="TLline"><a href="/medgen/68621" ref="tree=MeSH" title="MedGen record for Aggravated Neurofibromatosis">Aggravated Neurofibromatosis</a></span></li><li><span class="TLline"><a href="/medgen/18013" ref="tree=MeSH" title="MedGen record for Neurofibromatosis, type 1">Neurofibromatosis, type 1</a></span></li><li><span class="TLline"><a href="/medgen/18014" ref="tree=MeSH" title="MedGen record for Neurofibromatosis, type 2">Neurofibromatosis, type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/324338" ref="tree=MeSH" title="MedGen record for Palmoplantar keratoderma-esophageal carcinoma syndrome">Palmoplantar keratoderma-esophageal carcinoma syndrome</a></span></li><li><span class="TLline"><a href="/medgen/18404" ref="tree=MeSH" title="MedGen record for Peutz-Jeghers syndrome">Peutz-Jeghers syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1687472" ref="tree=MeSH" title="MedGen record for Polymerase proofreading associated polyposis">Polymerase proofreading associated polyposis</a></span></li><li><span class="TLline"><a href="/medgen/863898" ref="tree=MeSH" title="MedGen record for Progeroid features-hepatocellular carcinoma predisposition syndrome">Progeroid features-hepatocellular carcinoma predisposition syndrome</a></span></li><li><span class="TLline"><a href="/medgen/368366" ref="tree=MeSH" title="MedGen record for PTEN hamartoma tumor syndrome">PTEN hamartoma tumor syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/78554" ref="tree=MeSH" title="MedGen record for Bannayan-Riley-Ruvalcaba syndrome">Bannayan-Riley-Ruvalcaba syndrome</a></span></li><li><span class="TLline"><a href="/medgen/833619" ref="tree=MeSH" title="MedGen record for Cowden syndrome 1">Cowden syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/140251" ref="tree=MeSH" title="MedGen record for Lhermitte-Duclos disease">Lhermitte-Duclos disease</a></span></li><li><span class="TLline"><a href="/medgen/356222" ref="tree=MeSH" title="MedGen record for Proteus-like syndrome">Proteus-like syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1637405" ref="tree=MeSH" title="MedGen record for Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome">Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/457750" ref="tree=MeSH" title="MedGen record for Rhabdoid tumor predisposition syndrome">Rhabdoid tumor predisposition syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/322892" ref="tree=MeSH" title="MedGen record for Rhabdoid tumor predisposition syndrome 1">Rhabdoid tumor predisposition syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/413749" ref="tree=MeSH" title="MedGen record for Rhabdoid tumor predisposition syndrome 2">Rhabdoid tumor predisposition syndrome 2</a></span></li></ul></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/234775" ref="tree=MeSH" title="MedGen record for Schwannomatosis">Schwannomatosis</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><ul><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/344288" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis 1">Tuberous sclerosis 1</a></span></li><li><span class="TLline"><a href="/medgen/348170" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis 2">Tuberous sclerosis 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1799992" ref="tree=MeSH" title="MedGen record for Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome">Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/12147" ref="tree=MeSH" title="MedGen record for Werner syndrome">Werner syndrome</a></span></li><li><span class="TLline"><a href="/medgen/382718" ref="tree=MeSH" title="MedGen record for Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome">Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome</a></span></li><li><span class="TLline"><a href="/medgen/21921" ref="tree=MeSH" title="MedGen record for Wiskott-Aldrich syndrome">Wiskott-Aldrich syndrome</a></span></li><li><span class="TLline"><a href="/medgen/65123" ref="tree=MeSH" title="MedGen record for X-linked agammaglobulinemia">X-linked agammaglobulinemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/41933" ref="tree=MeSH" title="MedGen record for Hereditary eye diseases">Hereditary eye diseases</a></span><ul><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/944" ref="tree=MeSH" title="MedGen record for Choroideremia">Choroideremia</a></span></li><li><span class="TLline"><a href="/medgen/676499" ref="tree=MeSH" title="MedGen record for Cone dystrophy">Cone dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/3542" ref="tree=MeSH" title="MedGen record for Color vision deficiency">Color vision deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/896366" ref="tree=MeSH" title="MedGen record for Cone-rod dystrophy">Cone-rod dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/854161" ref="tree=MeSH" title="MedGen record for Progressive cone degeneration">Progressive cone degeneration</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/978406" ref="tree=MeSH" title="MedGen record for Isolated aniridia">Isolated aniridia</a></span></li><li><span class="TLline"><a href="/medgen/1843362" ref="tree=MeSH" title="MedGen record for Syndromic aniridia">Syndromic aniridia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1046" ref="tree=MeSH" title="MedGen record for Congenital ocular coloboma">Congenital ocular coloboma</a></span><ul><li><span class="TLline"><a href="/medgen/66820" ref="tree=MeSH" title="MedGen record for Chorioretinal coloboma">Chorioretinal coloboma</a></span></li><li><span class="TLline"><a href="/medgen/892599" ref="tree=MeSH" title="MedGen record for Ciliary body coloboma">Ciliary body coloboma</a></span></li><li><span class="TLline"><a href="/medgen/57832" ref="tree=MeSH" title="MedGen record for Coloboma of optic nerve">Coloboma of optic nerve</a></span></li><li><span class="TLline"><a href="/medgen/116097" ref="tree=MeSH" title="MedGen record for Iris coloboma">Iris coloboma</a></span></li><li><span class="TLline"><a href="/medgen/761889" ref="tree=MeSH" title="MedGen record for Retinal coloboma">Retinal coloboma</a></span></li><li><span class="TLline"><a href="/medgen/66078" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome">Treacher Collins syndrome</a></span></li></ul></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/573220" ref="tree=MeSH" title="MedGen record for Familial exudative vitreoretinopathy">Familial exudative vitreoretinopathy</a></span></li><li><span class="TLline"><a href="/medgen/3618" ref="tree=MeSH" title="MedGen record for Hereditary corneal dystrophy">Hereditary corneal dystrophy</a></span><ul><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/83283" ref="tree=MeSH" title="MedGen record for Meesmann corneal dystrophy">Meesmann corneal dystrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45207" ref="tree=MeSH" title="MedGen record for Hereditary optic atrophy">Hereditary optic atrophy</a></span><ul><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/1647918" ref="tree=MeSH" title="MedGen record for Dominant hereditary optic atrophy">Dominant hereditary optic atrophy</a></span></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/21923" ref="tree=MeSH" title="MedGen record for Wolfram syndrome">Wolfram syndrome</a></span></li></ul></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/137901" ref="tree=MeSH" title="MedGen record for Optic nerve hypoplasia">Optic nerve hypoplasia</a></span><ul><li><span class="TLline"><a href="/medgen/322281" ref="tree=MeSH" title="MedGen record for Isolated optic nerve hypoplasia">Isolated optic nerve hypoplasia</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/768708" ref="tree=MeSH" title="MedGen record for Unilateral Optic Nerve Hypoplasia">Unilateral Optic Nerve Hypoplasia</a></span></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/48432" ref="tree=MeSH" title="MedGen record for Retinal degeneration">Retinal degeneration</a></span><ul><li><span class="TLline"><a href="/medgen/7434" ref="tree=MeSH" title="MedGen record for Macular degeneration">Macular degeneration</a></span></li><li><span class="TLline"><a href="/medgen/232938" ref="tree=MeSH" title="MedGen record for Peripheral retinal degeneration">Peripheral retinal degeneration</a></span></li><li><span class="TLline"><a href="/medgen/101075" ref="tree=MeSH" title="MedGen record for Retinal atrophy">Retinal atrophy</a></span></li><li><span class="TLline"><a href="/medgen/20549" ref="tree=MeSH" title="MedGen record for Retinal drusen">Retinal drusen</a></span></li><li><span class="TLline"><a href="/medgen/208903" ref="tree=MeSH" title="MedGen record for Retinal dystrophy">Retinal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/867201" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa inversa">Retinitis pigmentosa inversa</a></span></li><li><span class="TLline"><a href="/medgen/56292" ref="tree=MeSH" title="MedGen record for Retinoschisis">Retinoschisis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/48433" ref="tree=MeSH" title="MedGen record for Retinal dysplasia">Retinal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/20551" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa">Retinitis pigmentosa</a></span><ul><li><span class="TLline"><a href="/medgen/334499" ref="tree=MeSH" title="MedGen record for Bothnia retinal dystrophy">Bothnia retinal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/416624" ref="tree=MeSH" title="MedGen record for Juvenile retinitis pigmentosa, AIPL1-related">Juvenile retinitis pigmentosa, AIPL1-related</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/433159" ref="tree=MeSH" title="MedGen record for Mitochondrial DNA-Associated Leigh Syndrome and NARP">Mitochondrial DNA-Associated Leigh Syndrome and NARP</a></span></li><li><span class="TLline"><a href="/medgen/67395" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 1">Retinitis pigmentosa 1</a></span></li><li><span class="TLline"><a href="/medgen/394544" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 2">Retinitis pigmentosa 2</a></span></li><li><span class="TLline"><a href="/medgen/336999" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 3">Retinitis pigmentosa 3</a></span></li><li><span class="TLline"><a href="/medgen/462351" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 4">Retinitis pigmentosa 4</a></span></li><li><span class="TLline"><a href="/medgen/334168" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 7">Retinitis pigmentosa 7</a></span></li><li><span class="TLline"><a href="/medgen/356743" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 9">Retinitis pigmentosa 9</a></span></li><li><span class="TLline"><a href="/medgen/357247" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 10">Retinitis pigmentosa 10</a></span></li><li><span class="TLline"><a href="/medgen/325055" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 11">Retinitis pigmentosa 11</a></span></li><li><span class="TLline"><a href="/medgen/374019" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 12">Retinitis pigmentosa 12</a></span></li><li><span class="TLline"><a href="/medgen/325486" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 13">Retinitis pigmentosa 13</a></span></li><li><span class="TLline"><a href="/medgen/325056" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 14">Retinitis pigmentosa 14</a></span></li><li><span class="TLline"><a href="/medgen/322153" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 17">Retinitis pigmentosa 17</a></span></li><li><span class="TLline"><a href="/medgen/371314" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 18">Retinitis pigmentosa 18</a></span></li><li><span class="TLline"><a href="/medgen/400996" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 19">Retinitis pigmentosa 19</a></span></li><li><span class="TLline"><a href="/medgen/462436" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 20">Retinitis pigmentosa 20</a></span></li><li><span class="TLline"><a href="/medgen/350427" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 25">Retinitis pigmentosa 25</a></span></li><li><span class="TLline"><a href="/medgen/333996" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 26">Retinitis pigmentosa 26</a></span></li><li><span class="TLline"><a href="/medgen/320323" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 27">Retinitis pigmentosa 27</a></span></li><li><span class="TLline"><a href="/medgen/244030" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 28">Retinitis pigmentosa 28</a></span></li><li><span class="TLline"><a href="/medgen/334614" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 30">Retinitis pigmentosa 30</a></span></li><li><span class="TLline"><a href="/medgen/372159" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 31">Retinitis pigmentosa 31</a></span></li><li><span class="TLline"><a href="/medgen/332080" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 33">Retinitis pigmentosa 33</a></span></li><li><span class="TLline"><a href="/medgen/339931" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 35">Retinitis pigmentosa 35</a></span></li><li><span class="TLline"><a href="/medgen/351175" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 36">Retinitis pigmentosa 36</a></span></li><li><span class="TLline"><a href="/medgen/410004" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 37">Retinitis pigmentosa 37</a></span></li><li><span class="TLline"><a href="/medgen/462578" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 38">Retinitis pigmentosa 38</a></span></li><li><span class="TLline"><a href="/medgen/462488" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 39">Retinitis pigmentosa 39</a></span></li><li><span class="TLline"><a href="/medgen/462457" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 40">Retinitis pigmentosa 40</a></span></li><li><span class="TLline"><a href="/medgen/383126" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 41">Retinitis pigmentosa 41</a></span></li><li><span class="TLline"><a href="/medgen/442864" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 42">Retinitis pigmentosa 42</a></span></li><li><span class="TLline"><a href="/medgen/462489" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 43">Retinitis pigmentosa 43</a></span></li><li><span class="TLline"><a href="/medgen/462418" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 44">Retinitis pigmentosa 44</a></span></li><li><span class="TLline"><a href="/medgen/462416" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 45">Retinitis pigmentosa 45</a></span></li><li><span class="TLline"><a href="/medgen/382614" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 46">Retinitis pigmentosa 46</a></span></li><li><span class="TLline"><a href="/medgen/462411" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 47">Retinitis pigmentosa 47</a></span></li><li><span class="TLline"><a href="/medgen/462540" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 48">Retinitis pigmentosa 48</a></span></li><li><span class="TLline"><a href="/medgen/442563" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 50">Retinitis pigmentosa 50</a></span></li><li><span class="TLline"><a href="/medgen/462065" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 51">Retinitis pigmentosa 51</a></span></li><li><span class="TLline"><a href="/medgen/462041" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 54">Retinitis pigmentosa 54</a></span></li><li><span class="TLline"><a href="/medgen/462169" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 56">Retinitis pigmentosa 56</a></span></li><li><span class="TLline"><a href="/medgen/462229" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 58">Retinitis pigmentosa 58</a></span></li><li><span class="TLline"><a href="/medgen/462577" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 59">Retinitis pigmentosa 59</a></span></li><li><span class="TLline"><a href="/medgen/462784" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 60">Retinitis pigmentosa 60</a></span></li><li><span class="TLline"><a href="/medgen/481672" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 62">Retinitis pigmentosa 62</a></span></li><li><span class="TLline"><a href="/medgen/482676" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 64">Retinitis pigmentosa 64</a></span></li><li><span class="TLline"><a href="/medgen/765766" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 65">Retinitis pigmentosa 65</a></span></li><li><span class="TLline"><a href="/medgen/811638" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 66">Retinitis pigmentosa 66</a></span></li><li><span class="TLline"><a href="/medgen/816284" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 67">Retinitis pigmentosa 67</a></span></li><li><span class="TLline"><a href="/medgen/816710" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 68">Retinitis pigmentosa 68</a></span></li><li><span class="TLline"><a href="/medgen/862749" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 69">Retinitis pigmentosa 69</a></span></li><li><span class="TLline"><a href="/medgen/863118" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 70">Retinitis pigmentosa 70</a></span></li><li><span class="TLline"><a href="/medgen/78754" ref="tree=MeSH" title="MedGen record for Usher syndrome">Usher syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/20552" ref="tree=MeSH" title="MedGen record for Retinoblastoma">Retinoblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/163163" ref="tree=MeSH" title="MedGen record for bilateral retinoblastoma">bilateral retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/83171" ref="tree=MeSH" title="MedGen record for Differentiated Retinoblastoma">Differentiated Retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/226854" ref="tree=MeSH" title="MedGen record for Diffuse Retinoblastoma">Diffuse Retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/75861" ref="tree=MeSH" title="MedGen record for Extraocular retinoblastoma">Extraocular retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/78874" ref="tree=MeSH" title="MedGen record for Intraocular retinoblastoma">Intraocular retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/1842255" ref="tree=MeSH" title="MedGen record for Non-hereditary retinoblastoma">Non-hereditary retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/82965" ref="tree=MeSH" title="MedGen record for Recurrent Retinoblastoma">Recurrent Retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/1646804" ref="tree=MeSH" title="MedGen record for Retinoblastoma by AJCC v8 Stage">Retinoblastoma by AJCC v8 Stage</a></span></li><li><span class="TLline"><a href="/medgen/155870" ref="tree=MeSH" title="MedGen record for Sporadic Retinoblastoma">Sporadic Retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/392856" ref="tree=MeSH" title="MedGen record for Trilateral retinoblastoma">Trilateral retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/137788" ref="tree=MeSH" title="MedGen record for Undifferentiated Retinoblastoma">Undifferentiated Retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/208929" ref="tree=MeSH" title="MedGen record for Unilateral retinoblastoma">Unilateral retinoblastoma</a></span></li></ul></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/83281" ref="tree=MeSH" title="MedGen record for Thyroid eye disease">Thyroid eye disease</a></span></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></li></ul></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><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></ul></li><li><span class="TLline"><a href="/medgen/155945" ref="tree=MeSH" title="MedGen record for Heredodegenerative Disorders, Nervous System">Heredodegenerative Disorders, Nervous System</a></span><ul><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/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/98277" ref="tree=MeSH" title="MedGen record for Chorea-acanthocytosis">Chorea-acanthocytosis</a></span></li><li><span class="TLline"><a href="/medgen/40363" ref="tree=MeSH" title="MedGen record for Cockayne syndrome">Cockayne syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/155488" ref="tree=MeSH" title="MedGen record for Cockayne syndrome type 1">Cockayne syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/155487" ref="tree=MeSH" title="MedGen record for Cockayne syndrome type 2">Cockayne syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/196713" ref="tree=MeSH" title="MedGen record for Cockayne syndrome type 3">Cockayne syndrome type 3</a></span></li><li><span class="TLline"><a href="/medgen/1762238" ref="tree=MeSH" title="MedGen record for COFS syndrome">COFS syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/104815" ref="tree=MeSH" title="MedGen record for Familial amyloid neuropathy">Familial amyloid neuropathy</a></span></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/148407" ref="tree=MeSH" title="MedGen record for Hereditary Central Nervous System Demyelinating Diseases">Hereditary Central Nervous System Demyelinating Diseases</a></span><ul><li><span class="TLline"><a href="/medgen/57667" ref="tree=MeSH" title="MedGen record for Adrenoleukodystrophy">Adrenoleukodystrophy</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></li><li><span class="TLline"><a href="/medgen/6071" ref="tree=MeSH" title="MedGen record for Metachromatic leukodystrophy">Metachromatic leukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/61440" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease">Pelizaeus-Merzbacher disease</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></li></ul></li><li><span class="TLline"><a href="/medgen/45066" ref="tree=MeSH" title="MedGen record for Hereditary motor and sensory neuropathy">Hereditary motor and sensory neuropathy</a></span><ul><li><span class="TLline"><a href="/medgen/2980" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease">Charcot-Marie-Tooth disease</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></li><li><span class="TLline"><a href="/medgen/20844" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia">Hereditary spastic paraplegia</a></span></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></ul></li><li><span class="TLline"><a href="/medgen/14355" ref="tree=MeSH" title="MedGen record for Hereditary sensory and autonomic neuropathy">Hereditary sensory and autonomic neuropathy</a></span><ul><li><span class="TLline"><a href="/medgen/1830087" ref="tree=MeSH" title="MedGen record for Congenital insensitivity to pain with hyperhidrosis">Congenital insensitivity to pain with hyperhidrosis</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/930069" ref="tree=MeSH" title="MedGen record for X-linked hereditary sensory and autonomic neuropathy with hearing loss">X-linked hereditary sensory and autonomic neuropathy with hearing loss</a></span></li></ul></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/333282" ref="tree=MeSH" title="MedGen record for Kennedy disease">Kennedy disease</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/10239" ref="tree=MeSH" title="MedGen record for Myotonic dystrophy">Myotonic dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/98051" ref="tree=MeSH" title="MedGen record for Congenital myotonic dystrophy">Congenital myotonic dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/44565" ref="tree=MeSH" title="MedGen record for Myotonic cataract">Myotonic cataract</a></span></li><li><span class="TLline"><a href="/medgen/419137" ref="tree=MeSH" title="MedGen record for Myotonic dystrophy type 2">Myotonic dystrophy type 2</a></span></li><li><span class="TLline"><a href="/medgen/886881" ref="tree=MeSH" title="MedGen record for Steinert myotonic dystrophy syndrome">Steinert myotonic dystrophy syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10326" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis">Neuronal ceroid lipofuscinosis</a></span><ul><li><span class="TLline"><a href="/medgen/7230" ref="tree=MeSH" title="MedGen record for Adult neuronal ceroid lipofuscinosis">Adult neuronal ceroid lipofuscinosis</a></span></li><li><span class="TLline"><a href="/medgen/320287" ref="tree=MeSH" title="MedGen record for Ceroid lipofuscinosis, neuronal, 4 (Kufs type)">Ceroid lipofuscinosis, neuronal, 4 (Kufs type)</a></span></li><li><span class="TLline"><a href="/medgen/1790423" ref="tree=MeSH" title="MedGen record for Ceroid lipofuscinosis, neuronal, 6A">Ceroid lipofuscinosis, neuronal, 6A</a></span></li><li><span class="TLline"><a href="/medgen/351189" ref="tree=MeSH" title="MedGen record for Congenital neuronal ceroid lipofuscinosis">Congenital neuronal ceroid lipofuscinosis</a></span></li><li><span class="TLline"><a href="/medgen/75666" ref="tree=MeSH" title="MedGen record for Infantile neuronal ceroid lipofuscinosis">Infantile neuronal ceroid lipofuscinosis</a></span></li><li><span class="TLline"><a href="/medgen/978346" ref="tree=MeSH" title="MedGen record for Juvenile neuronal ceroid lipofuscinosis">Juvenile neuronal ceroid lipofuscinosis</a></span></li><li><span class="TLline"><a href="/medgen/9589" ref="tree=MeSH" title="MedGen record for Late-infantile neuronal ceroid lipofuscinosis">Late-infantile neuronal ceroid lipofuscinosis</a></span></li><li><span class="TLline"><a href="/medgen/340540" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 1">Neuronal ceroid lipofuscinosis 1</a></span></li><li><span class="TLline"><a href="/medgen/155549" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 3">Neuronal ceroid lipofuscinosis 3</a></span></li><li><span class="TLline"><a href="/medgen/376792" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 5">Neuronal ceroid lipofuscinosis 5</a></span></li><li><span class="TLline"><a href="/medgen/325457" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 7">Neuronal ceroid lipofuscinosis 7</a></span></li><li><span class="TLline"><a href="/medgen/332304" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 9">Neuronal ceroid lipofuscinosis 9</a></span></li><li><span class="TLline"><a href="/medgen/350481" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 10">Neuronal ceroid lipofuscinosis 10</a></span></li><li><span class="TLline"><a href="/medgen/355328" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 8 northern epilepsy variant">Neuronal ceroid lipofuscinosis 8 northern epilepsy variant</a></span></li><li><span class="TLline"><a href="/medgen/924712" ref="tree=MeSH" title="MedGen record for Neuronal Ceroid Lipofuscinosis Type 4B">Neuronal Ceroid Lipofuscinosis Type 4B</a></span></li><li><span class="TLline"><a href="/medgen/830971" ref="tree=MeSH" title="MedGen record for Parkinsonism due to ATP13A2 deficiency">Parkinsonism due to ATP13A2 deficiency</a></span></li></ul></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/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/11554" ref="tree=MeSH" title="MedGen record for spinocerebellar disease">spinocerebellar disease</a></span><ul><li><span class="TLline"><a href="/medgen/2956" ref="tree=MeSH" title="MedGen record for Early onset cerebellar ataxia with myoclonus">Early onset cerebellar ataxia with myoclonus</a></span></li><li><span class="TLline"><a href="/medgen/5276" ref="tree=MeSH" title="MedGen record for Friedreich ataxia">Friedreich ataxia</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/39733" ref="tree=MeSH" title="MedGen record for Spinocerebellar atrophy">Spinocerebellar atrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3941" ref="tree=MeSH" title="MedGen record for Torsion dystonia">Torsion dystonia</a></span><ul><li><span class="TLline"><a href="/medgen/98279" ref="tree=MeSH" title="MedGen record for Acquired idiopathic torsion dystonia">Acquired idiopathic torsion dystonia</a></span></li><li><span class="TLline"><a href="/medgen/95980" ref="tree=MeSH" title="MedGen record for Familial idiopathic torsion dystonia">Familial idiopathic torsion dystonia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/21219" ref="tree=MeSH" title="MedGen record for Tourette syndrome">Tourette syndrome</a></span></li><li><span class="TLline"><a href="/medgen/155923" ref="tree=MeSH" title="MedGen record for Unverricht-Lundborg syndrome">Unverricht-Lundborg 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/211749" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability">X-linked intellectual disability</a></span><ul><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/75556" ref="tree=MeSH" title="MedGen record for Coffin-Lowry syndrome">Coffin-Lowry syndrome</a></span></li><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/9721" ref="tree=MeSH" title="MedGen record for Lesch-Nyhan syndrome">Lesch-Nyhan syndrome</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/7734" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-II">Mucopolysaccharidosis, MPS-II</a></span></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></li><li><span class="TLline"><a href="/medgen/48441" ref="tree=MeSH" title="MedGen record for Rett syndrome">Rett syndrome</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/124420" ref="tree=MeSH" title="MedGen record for Hyperimmunoglobulin M syndrome">Hyperimmunoglobulin M syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/96019" ref="tree=MeSH" title="MedGen record for Hyper-IgM syndrome type 1">Hyper-IgM syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/354548" ref="tree=MeSH" title="MedGen record for Hyper-IgM syndrome type 2">Hyper-IgM syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/328419" ref="tree=MeSH" title="MedGen record for Hyper-IgM syndrome type 3">Hyper-IgM syndrome type 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/90974" ref="tree=MeSH" title="MedGen record for Hyperthyroxinemia, familial dysalbuminemic">Hyperthyroxinemia, familial dysalbuminemic</a></span></li><li><span class="TLline"><a href="/medgen/102469" ref="tree=MeSH" title="MedGen record for Hypogonadism with anosmia">Hypogonadism with anosmia</a></span><ul><li><span class="TLline"><a href="/medgen/295872" ref="tree=MeSH" title="MedGen record for Hypogonadotropic hypogonadism 1 with or without anosmia">Hypogonadotropic hypogonadism 1 with or without anosmia</a></span></li><li><span class="TLline"><a href="/medgen/289648" ref="tree=MeSH" title="MedGen record for Hypogonadotropic hypogonadism 2 with or without anosmia">Hypogonadotropic hypogonadism 2 with or without anosmia</a></span></li><li><span class="TLline"><a href="/medgen/763392" ref="tree=MeSH" title="MedGen record for Hypogonadotropic hypogonadism 3 with or without anosmia">Hypogonadotropic hypogonadism 3 with or without anosmia</a></span></li><li><span class="TLline"><a href="/medgen/765257" ref="tree=MeSH" title="MedGen record for Hypogonadotropic hypogonadism 4 with or without anosmia">Hypogonadotropic hypogonadism 4 with or without anosmia</a></span></li><li><span class="TLline"><a href="/medgen/765467" ref="tree=MeSH" title="MedGen record for Hypogonadotropic hypogonadism 5 with or without anosmia">Hypogonadotropic hypogonadism 5 with or without anosmia</a></span></li><li><span class="TLline"><a href="/medgen/765488" ref="tree=MeSH" title="MedGen record for Hypogonadotropic hypogonadism 6 with or without anosmia">Hypogonadotropic hypogonadism 6 with or without anosmia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/585013" ref="tree=MeSH" title="MedGen record for Inborn error of immunity">Inborn error of immunity</a></span><ul><li><span class="TLline"><a href="/medgen/1676096" ref="tree=MeSH" title="MedGen record for Hereditary Complement Deficiency Diseases">Hereditary Complement Deficiency Diseases</a></span><ul><li><span class="TLline"><a href="/medgen/9229" ref="tree=MeSH" title="MedGen record for Hereditary angioneurotic edema">Hereditary angioneurotic edema</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/854488" ref="tree=MeSH" title="MedGen record for Hyper-IgE syndrome">Hyper-IgE syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1842902" ref="tree=MeSH" title="MedGen record for CADINS disease">CADINS disease</a></span></li><li><span class="TLline"><a href="/medgen/445391" ref="tree=MeSH" title="MedGen record for Hyper-IgE recurrent infection syndrome 1, autosomal dominant">Hyper-IgE recurrent infection syndrome 1, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/862808" ref="tree=MeSH" title="MedGen record for Immunodeficiency 23">Immunodeficiency 23</a></span></li><li><span class="TLline"><a href="/medgen/1802991" ref="tree=MeSH" title="MedGen record for Netherton syndrome">Netherton syndrome</a></span></li><li><span class="TLline"><a href="/medgen/816049" ref="tree=MeSH" title="MedGen record for Severe dermatitis-multiple allergies-metabolic wasting syndrome">Severe dermatitis-multiple allergies-metabolic wasting syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66116" ref="tree=MeSH" title="MedGen record for Leukocyte-Adhesion Deficiency Syndrome">Leukocyte-Adhesion Deficiency Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/88328" ref="tree=MeSH" title="MedGen record for Severe combined immunodeficiency disease">Severe combined immunodeficiency disease</a></span><ul><li><span class="TLline"><a href="/medgen/120610" ref="tree=MeSH" title="MedGen record for Adenosine deaminase deficiency">Adenosine deaminase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/400751" ref="tree=MeSH" title="MedGen record for Athabaskan severe combined immunodeficiency">Athabaskan severe combined immunodeficiency</a></span></li><li><span class="TLline"><a href="/medgen/398130" ref="tree=MeSH" title="MedGen record for Histiocytic medullary reticulosis">Histiocytic medullary reticulosis</a></span></li><li><span class="TLline"><a href="/medgen/1791958" ref="tree=MeSH" title="MedGen record for Leaky Severe Combined Immunodeficiency">Leaky Severe Combined Immunodeficiency</a></span></li><li><span class="TLline"><a href="/medgen/1781237" ref="tree=MeSH" title="MedGen record for MHC class II deficiency">MHC class II deficiency</a></span></li><li><span class="TLline"><a href="/medgen/75653" ref="tree=MeSH" title="MedGen record for Purine-nucleoside phosphorylase deficiency">Purine-nucleoside phosphorylase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/69211" ref="tree=MeSH" title="MedGen record for SCID (severe combined immunodeficiency) due to absent class II HLA (human leukocyte antigens)">SCID (severe combined immunodeficiency) due to absent class II HLA (human leukocyte antigens)</a></span></li><li><span class="TLline"><a href="/medgen/863270" ref="tree=MeSH" title="MedGen record for Severe combined immunodeficiency due to DNA-PKcs deficiency">Severe combined immunodeficiency due to DNA-PKcs deficiency</a></span></li><li><span class="TLline"><a href="/medgen/364745" ref="tree=MeSH" title="MedGen record for Severe Combined Immunodeficiency with Absence of T and B Cells">Severe Combined Immunodeficiency with Absence of T and B Cells</a></span></li><li><span class="TLline"><a href="/medgen/364744" ref="tree=MeSH" title="MedGen record for Severe Combined Immunodeficiency with Absence of T, Normal B Cells">Severe Combined Immunodeficiency with Absence of T, Normal B Cells</a></span></li><li><span class="TLline"><a href="/medgen/354935" ref="tree=MeSH" title="MedGen record for Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency">Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/373235" ref="tree=MeSH" title="MedGen record for Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B Cell-Positive, NK Cell-Positive">Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B Cell-Positive, NK Cell-Positive</a></span></li><li><span class="TLline"><a href="/medgen/929461" ref="tree=MeSH" title="MedGen record for Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome">Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/331474" ref="tree=MeSH" title="MedGen record for T-B+ severe combined immunodeficiency due to JAK3 deficiency">T-B+ severe combined immunodeficiency due to JAK3 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/220906" ref="tree=MeSH" title="MedGen record for X-linked severe combined immunodeficiency">X-linked severe combined immunodeficiency</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/6323" ref="tree=MeSH" title="MedGen record for Inborn errors of metabolism">Inborn errors of metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/412535" ref="tree=MeSH" title="MedGen record for 2-hydroxyglutaric aciduria">2-hydroxyglutaric aciduria</a></span><ul><li><span class="TLline"><a href="/medgen/1802316" ref="tree=MeSH" title="MedGen record for D,L-2-hydroxyglutaric aciduria">D,L-2-hydroxyglutaric aciduria</a></span></li><li><span class="TLline"><a href="/medgen/322192" ref="tree=MeSH" title="MedGen record for D-2-hydroxyglutaric aciduria">D-2-hydroxyglutaric aciduria</a></span></li><li><span class="TLline"><a href="/medgen/341029" ref="tree=MeSH" title="MedGen record for L-2-hydroxyglutaric aciduria">L-2-hydroxyglutaric aciduria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/199725" ref="tree=MeSH" title="MedGen record for Amino Acid Transport Disorders, Inborn">Amino Acid Transport Disorders, Inborn</a></span><ul><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/6723" ref="tree=MeSH" title="MedGen record for Neutral 1 amino acid transport defect">Neutral 1 amino acid transport defect</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/156005" ref="tree=MeSH" title="MedGen record for Brain Diseases, Metabolic, Inborn">Brain Diseases, Metabolic, Inborn</a></span><ul><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></li><li><span class="TLline"><a href="/medgen/8943" ref="tree=MeSH" title="MedGen record for Galactosemia">Galactosemia</a></span></li><li><span class="TLline"><a href="/medgen/155625" ref="tree=MeSH" title="MedGen record for Glycine encephalopathy">Glycine encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/541332" ref="tree=MeSH" title="MedGen record for Hereditary hypertyrosinemia">Hereditary hypertyrosinemia</a></span></li><li><span class="TLline"><a href="/medgen/42485" ref="tree=MeSH" title="MedGen record for Homocystinuria">Homocystinuria</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/82800" ref="tree=MeSH" title="MedGen record for ITM2B amyloidosis">ITM2B amyloidosis</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/148380" ref="tree=MeSH" title="MedGen record for Lysosomal Storage Diseases, Nervous System">Lysosomal Storage Diseases, Nervous System</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></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/79470" 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/19244" ref="tree=MeSH" title="MedGen record for Phenylketonuria">Phenylketonuria</a></span></li><li><span class="TLline"><a href="/medgen/18801" ref="tree=MeSH" title="MedGen record for Pyruvate carboxylase deficiency">Pyruvate carboxylase deficiency</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/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/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/489898" ref="tree=MeSH" title="MedGen record for Deficiency of bisphosphoglycerate mutase">Deficiency of bisphosphoglycerate mutase</a></span></li><li><span class="TLline"><a href="/medgen/713875" ref="tree=MeSH" title="MedGen record for Deficiency of enolase">Deficiency of enolase</a></span></li><li><span class="TLline"><a href="/medgen/584936" ref="tree=MeSH" title="MedGen record for Deficiency of hexokinase">Deficiency of hexokinase</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></li></ul></li><li><span class="TLline"><a href="/medgen/468982" ref="tree=MeSH" title="MedGen record for Disorder of organic acid metabolism">Disorder of organic acid metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/777186" ref="tree=MeSH" title="MedGen record for 3-Methylglutaconic aciduria">3-Methylglutaconic aciduria</a></span></li><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/280689" ref="tree=MeSH" title="MedGen record for Deficiency of acetyl-CoA acetyltransferase">Deficiency of acetyl-CoA acetyltransferase</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/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/82822" ref="tree=MeSH" title="MedGen record for Isovaleryl-CoA dehydrogenase deficiency">Isovaleryl-CoA dehydrogenase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1633312" ref="tree=MeSH" title="MedGen record for Methylcrotonyl-CoA carboxylase deficiency">Methylcrotonyl-CoA carboxylase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/120654" ref="tree=MeSH" title="MedGen record for Methylmalonic acidemia">Methylmalonic acidemia</a></span></li><li><span class="TLline"><a href="/medgen/75694" ref="tree=MeSH" title="MedGen record for Propionic acidemia">Propionic acidemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/479882" ref="tree=MeSH" title="MedGen record for Erythrocyte Adenylate Kinase Deficiency">Erythrocyte Adenylate Kinase Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/360297" ref="tree=MeSH" title="MedGen record for Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome">Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/42106" ref="tree=MeSH" title="MedGen record for Fructose-biphosphatase deficiency">Fructose-biphosphatase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/584934" ref="tree=MeSH" title="MedGen record for Glucose phosphate isomerase deficiency">Glucose phosphate isomerase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1790766" ref="tree=MeSH" title="MedGen record for Glucose-6-Phosphatase 3 Deficiency">Glucose-6-Phosphatase 3 Deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/414066" ref="tree=MeSH" title="MedGen record for Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency">Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/97988" ref="tree=MeSH" title="MedGen record for Glutathione synthetase deficiency with 5-oxoprolinuria">Glutathione synthetase deficiency with 5-oxoprolinuria</a></span></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/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></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></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><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></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></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></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></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/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/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/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/863042" ref="tree=MeSH" title="MedGen record for Polyglucosan body myopathy type 1">Polyglucosan body myopathy type 1</a></span></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/148146" ref="tree=MeSH" title="MedGen record for Hereditary amyloidosis">Hereditary amyloidosis</a></span><ul><li><span class="TLline"><a href="/medgen/82799" ref="tree=MeSH" title="MedGen record for Familial visceral amyloidosis, Ostertag type">Familial visceral amyloidosis, Ostertag type</a></span></li><li><span class="TLline"><a href="/medgen/301243" ref="tree=MeSH" title="MedGen record for Finnish type amyloidosis">Finnish type amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/267610" ref="tree=MeSH" title="MedGen record for Hereditary cerebral hemorrhage with amyloidosis">Hereditary cerebral hemorrhage with amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/928338" ref="tree=MeSH" title="MedGen record for Variant ABeta2M amyloidosis">Variant ABeta2M amyloidosis</a></span></li></ul></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/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></li><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/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/472940" ref="tree=MeSH" title="MedGen record for Hereditary orotic aciduria">Hereditary orotic aciduria</a></span></li><li><span class="TLline"><a href="/medgen/1391920" ref="tree=MeSH" title="MedGen record for Hexose-6-phosphate Dehydrogenase Deficiency">Hexose-6-phosphate Dehydrogenase Deficiency</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/46123" ref="tree=MeSH" title="MedGen record for Hutchinson-Gilford syndrome">Hutchinson-Gilford syndrome</a></span></li><li><span class="TLline"><a href="/medgen/2825" ref="tree=MeSH" title="MedGen record for Inborn carbohydrate metabolic disorder">Inborn carbohydrate metabolic disorder</a></span><ul><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></li><li><span class="TLline"><a href="/medgen/8922" ref="tree=MeSH" title="MedGen record for Fructose Metabolism, Inborn Errors">Fructose Metabolism, Inborn Errors</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/19612" ref="tree=MeSH" title="MedGen record for Inborn error of pyruvate metabolism">Inborn error of pyruvate metabolism</a></span></li><li><span class="TLline"><a href="/medgen/6001" ref="tree=MeSH" title="MedGen record for Lactose intolerance">Lactose intolerance</a></span></li><li><span class="TLline"><a href="/medgen/226231" ref="tree=MeSH" title="MedGen record for Mannosidosis">Mannosidosis</a></span></li><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/7733" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis">Mucopolysaccharidosis</a></span></li><li><span class="TLline"><a href="/medgen/10119" ref="tree=MeSH" title="MedGen record for Multiple carboxylase deficiency">Multiple carboxylase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/5697" ref="tree=MeSH" title="MedGen record for Primary hyperoxaluria">Primary hyperoxaluria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/48263" ref="tree=MeSH" title="MedGen record for Inborn disorder of purine or pyrimidine metabolism">Inborn disorder of purine or pyrimidine metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/42280" ref="tree=MeSH" title="MedGen record for Gout">Gout</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1867" ref="tree=MeSH" title="MedGen record for Inborn error of amino acid metabolism">Inborn error of amino acid metabolism</a></span><ul><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/78688" ref="tree=MeSH" title="MedGen record for Arginase deficiency">Arginase deficiency</a></span></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/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/108623" ref="tree=MeSH" title="MedGen record for Hyperhomocysteinemia">Hyperhomocysteinemia</a></span></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></li></ul></li><li><span class="TLline"><a href="/medgen/6325" ref="tree=MeSH" title="MedGen record for Inborn metal metabolism disorder">Inborn metal metabolism disorder</a></span><ul><li><span class="TLline"><a href="/medgen/5492" ref="tree=MeSH" title="MedGen record for Bronze diabetes">Bronze diabetes</a></span></li><li><span class="TLline"><a href="/medgen/5713" ref="tree=MeSH" title="MedGen record for Familial Hypophosphatemias">Familial Hypophosphatemias</a></span></li><li><span class="TLline"><a href="/medgen/18291" ref="tree=MeSH" title="MedGen record for Familial periodic paralysis">Familial periodic paralysis</a></span></li><li><span class="TLline"><a href="/medgen/43799" ref="tree=MeSH" title="MedGen record for Hypophosphatasia">Hypophosphatasia</a></span></li><li><span class="TLline"><a href="/medgen/46178" ref="tree=MeSH" title="MedGen record for Pseudohypoparathyroidism">Pseudohypoparathyroidism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57587" ref="tree=MeSH" title="MedGen record for Inherited lipid metabolism disorder">Inherited lipid metabolism disorder</a></span><ul><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/1253" ref="tree=MeSH" title="MedGen record for Abetalipoproteinaemia">Abetalipoproteinaemia</a></span></li><li><span class="TLline"><a href="/medgen/468968" ref="tree=MeSH" title="MedGen record for Disorder of fatty acid metabolism">Disorder of fatty acid metabolism</a></span></li><li><span class="TLline"><a href="/medgen/66067" ref="tree=MeSH" title="MedGen record for Dyslipidemia">Dyslipidemia</a></span></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/6106" ref="tree=MeSH" title="MedGen record for Lipid Metabolism, Inborn Errors">Lipid Metabolism, Inborn Errors</a></span></li><li><span class="TLline"><a href="/medgen/6111" ref="tree=MeSH" title="MedGen record for Lipodystrophy">Lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/9781" ref="tree=MeSH" title="MedGen record for Lipomatosis">Lipomatosis</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/52453" ref="tree=MeSH" title="MedGen record for Sphingolipidosis">Sphingolipidosis</a></span></li><li><span class="TLline"><a href="/medgen/21939" ref="tree=MeSH" title="MedGen record for Xanthomatosis">Xanthomatosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/474863" ref="tree=MeSH" title="MedGen record for Intermediary Metabolism Disorder">Intermediary Metabolism Disorder</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></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></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/42164" ref="tree=MeSH" title="MedGen record for Gaucher disease">Gaucher disease</a></span></li><li><span class="TLline"><a href="/medgen/43107" ref="tree=MeSH" title="MedGen record for GM1 gangliosidosis">GM1 gangliosidosis</a></span></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/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></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/10348" ref="tree=MeSH" title="MedGen record for Sphingomyelin/cholesterol lipidosis">Sphingomyelin/cholesterol lipidosis</a></span></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><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/9698" ref="tree=MeSH" title="MedGen record for Norum disease">Norum disease</a></span></li><li><span class="TLline"><a href="/medgen/129185" ref="tree=MeSH" title="MedGen record for Peroxisomal disorder">Peroxisomal disorder</a></span><ul><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/507284" ref="tree=MeSH" title="MedGen record for CADDS">CADDS</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></li></ul></li><li><span class="TLline"><a href="/medgen/1737580" ref="tree=MeSH" title="MedGen record for PIGA Deficiency">PIGA Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/473069" ref="tree=MeSH" title="MedGen record for Pyruvate kinase deficiency of red cells">Pyruvate kinase deficiency of red cells</a></span></li><li><span class="TLline"><a href="/medgen/19728" ref="tree=MeSH" title="MedGen record for Renal tubular transport disease">Renal tubular transport disease</a></span><ul><li><span class="TLline"><a href="/medgen/2172" ref="tree=MeSH" title="MedGen record for Bartter syndrome">Bartter syndrome</a></span></li><li><span class="TLline"><a href="/medgen/168056" ref="tree=MeSH" title="MedGen record for Dent disease">Dent disease</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/757652" ref="tree=MeSH" title="MedGen record for Familial renal glucosuria">Familial renal glucosuria</a></span></li><li><span class="TLline"><a href="/medgen/4653" ref="tree=MeSH" title="MedGen record for Fanconi syndrome">Fanconi syndrome</a></span></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/18721" ref="tree=MeSH" title="MedGen record for Pseudohypoaldosteronism">Pseudohypoaldosteronism</a></span></li><li><span class="TLline"><a href="/medgen/254" ref="tree=MeSH" title="MedGen record for Renal aminoaciduria">Renal aminoaciduria</a></span></li><li><span class="TLline"><a href="/medgen/90" ref="tree=MeSH" title="MedGen record for Renal tubular acidosis">Renal tubular acidosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/219772" ref="tree=MeSH" title="MedGen record for Steroid inherited metabolic disorder">Steroid inherited metabolic disorder</a></span><ul><li><span class="TLline"><a href="/medgen/389937" ref="tree=MeSH" title="MedGen record for Antley-Bixler Syndrome Phenotype">Antley-Bixler Syndrome Phenotype</a></span></li><li><span class="TLline"><a href="/medgen/90983" ref="tree=MeSH" title="MedGen record for Apparent mineralocorticoid excess">Apparent mineralocorticoid excess</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></ul></li><li><span class="TLline"><a href="/medgen/220924" ref="tree=MeSH" title="MedGen record for Sucrase-isomaltase deficiency">Sucrase-isomaltase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/574095" ref="tree=MeSH" title="MedGen record for Uridine monophosphate hydrolase deficiency">Uridine monophosphate hydrolase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/163105" ref="tree=MeSH" title="MedGen record for Inherited blood coagulation disorder">Inherited blood coagulation disorder</a></span><ul><li><span class="TLline"><a href="/medgen/7919" ref="tree=MeSH" title="MedGen record for Afibrinogenemia">Afibrinogenemia</a></span></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/4633" ref="tree=MeSH" title="MedGen record for Congenital factor V deficiency">Congenital factor V deficiency</a></span></li><li><span class="TLline"><a href="/medgen/8769" ref="tree=MeSH" title="MedGen record for Factor VII deficiency">Factor VII deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/1388639" ref="tree=MeSH" title="MedGen record for Acquired factor VII deficiency">Acquired factor VII deficiency</a></span></li><li><span class="TLline"><a href="/medgen/473015" ref="tree=MeSH" title="MedGen record for Congenital factor VII deficiency">Congenital factor VII deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/4635" ref="tree=MeSH" title="MedGen record for Factor X deficiency">Factor X deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/543977" ref="tree=MeSH" title="MedGen record for Acquired factor X deficiency">Acquired factor X deficiency</a></span></li><li><span class="TLline"><a href="/medgen/543976" ref="tree=MeSH" title="MedGen record for Hereditary factor X deficiency disease">Hereditary factor X deficiency disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8772" ref="tree=MeSH" title="MedGen record for Factor XII deficiency disease">Factor XII deficiency disease</a></span><ul><li><span class="TLline"><a href="/medgen/1375914" ref="tree=MeSH" title="MedGen record for Acquired Factor XII Deficiency">Acquired Factor XII Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/543982" ref="tree=MeSH" title="MedGen record for Hereditary factor XII deficiency disease">Hereditary factor XII deficiency disease</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/82900" ref="tree=MeSH" title="MedGen record for Gray platelet syndrome">Gray platelet syndrome</a></span></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/945" ref="tree=MeSH" title="MedGen record for Hereditary factor IX deficiency disease">Hereditary factor IX deficiency disease</a></span><ul><li><span class="TLline"><a href="/medgen/864934" ref="tree=MeSH" title="MedGen record for HEMOPHILIA B BRANDENBURG">HEMOPHILIA B BRANDENBURG</a></span></li><li><span class="TLline"><a href="/medgen/1845499" ref="tree=MeSH" title="MedGen record for Hemophilia B leyden">Hemophilia B leyden</a></span></li><li><span class="TLline"><a href="/medgen/431584" ref="tree=MeSH" title="MedGen record for Hemophilia b(m)">Hemophilia b(m)</a></span></li><li><span class="TLline"><a href="/medgen/1826003" ref="tree=MeSH" title="MedGen record for Mild hemophilia B">Mild hemophilia B</a></span></li><li><span class="TLline"><a href="/medgen/1842225" ref="tree=MeSH" title="MedGen record for Moderately severe hemophilia B">Moderately severe hemophilia B</a></span></li><li><span class="TLline"><a href="/medgen/1826004" ref="tree=MeSH" title="MedGen record for Severe hemophilia B">Severe hemophilia B</a></span></li><li><span class="TLline"><a href="/medgen/1843014" ref="tree=MeSH" title="MedGen record for Symptomatic form of hemophilia B in female carriers">Symptomatic form of hemophilia B in female carriers</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5501" ref="tree=MeSH" title="MedGen record for Hereditary factor VIII deficiency disease">Hereditary factor VIII deficiency disease</a></span><ul><li><span class="TLline"><a href="/medgen/336105" ref="tree=MeSH" title="MedGen record for Hemophilia A with vascular abnormality">Hemophilia A with vascular abnormality</a></span></li><li><span class="TLline"><a href="/medgen/543975" ref="tree=MeSH" title="MedGen record for Mild hemophilia A">Mild hemophilia A</a></span></li><li><span class="TLline"><a href="/medgen/543974" ref="tree=MeSH" title="MedGen record for Moderately severe hemophilia A">Moderately severe hemophilia A</a></span></li><li><span class="TLline"><a href="/medgen/543973" ref="tree=MeSH" title="MedGen record for Severe hemophilia A">Severe hemophilia A</a></span></li><li><span class="TLline"><a href="/medgen/1843218" ref="tree=MeSH" title="MedGen record for Symptomatic form of hemophilia A in female carriers">Symptomatic form of hemophilia A in female carriers</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8770" ref="tree=MeSH" title="MedGen record for Hereditary factor XI deficiency disease">Hereditary factor XI deficiency disease</a></span></li><li><span class="TLline"><a href="/medgen/4639" ref="tree=MeSH" title="MedGen record for Hereditary factor XIII deficiency disease">Hereditary factor XIII deficiency disease</a></span></li><li><span class="TLline"><a href="/medgen/36313" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome">Hermansky-Pudlak syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/419514" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 1">Hermansky-Pudlak syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/374912" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 2">Hermansky-Pudlak syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/854708" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 3">Hermansky-Pudlak syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/483344" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 4">Hermansky-Pudlak syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/854711" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 5">Hermansky-Pudlak syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/854714" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 6">Hermansky-Pudlak syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/481386" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 7">Hermansky-Pudlak syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/854728" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 8">Hermansky-Pudlak syndrome 8</a></span></li><li><span class="TLline"><a href="/medgen/481656" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 9">Hermansky-Pudlak syndrome 9</a></span></li><li><span class="TLline"><a href="/medgen/934713" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 10">Hermansky-Pudlak syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/1843223" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome with pulmonary fibrosis">Hermansky-Pudlak syndrome with pulmonary fibrosis</a></span></li><li><span class="TLline"><a href="/medgen/1842321" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome without pulmonary fibrosis">Hermansky-Pudlak syndrome without pulmonary fibrosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1651913" ref="tree=MeSH" title="MedGen record for Prothrombin deficiency">Prothrombin deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/140275" ref="tree=MeSH" title="MedGen record for Acquired hypoprothrombinemia">Acquired hypoprothrombinemia</a></span></li><li><span class="TLline"><a href="/medgen/124425" ref="tree=MeSH" title="MedGen record for Congenital prothrombin deficiency">Congenital prothrombin deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/96016" ref="tree=MeSH" title="MedGen record for Reduced protein C activity">Reduced protein C activity</a></span></li><li><span class="TLline"><a href="/medgen/109068" ref="tree=MeSH" title="MedGen record for Resistance to activated protein C">Resistance to activated protein C</a></span></li><li><span class="TLline"><a href="/medgen/224783" ref="tree=MeSH" title="MedGen record for Upshaw-Schulman syndrome">Upshaw-Schulman syndrome</a></span></li><li><span class="TLline"><a href="/medgen/22686" ref="tree=MeSH" title="MedGen record for von Willebrand disorder">von Willebrand disorder</a></span><ul><li><span class="TLline"><a href="/medgen/543999" ref="tree=MeSH" title="MedGen record for Acquired von willebrand syndrome">Acquired von willebrand syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1814986" ref="tree=MeSH" title="MedGen record for Hereditary von Willebrand disease">Hereditary von Willebrand disease</a></span></li><li><span class="TLline"><a href="/medgen/226914" ref="tree=MeSH" title="MedGen record for Pseudo von Willebrand disease">Pseudo von Willebrand disease</a></span></li><li><span class="TLline"><a href="/medgen/220393" ref="tree=MeSH" title="MedGen record for von Willebrand disease type 1">von Willebrand disease type 1</a></span></li><li><span class="TLline"><a href="/medgen/224736" ref="tree=MeSH" title="MedGen record for von Willebrand disease type 2">von Willebrand disease type 2</a></span></li><li><span class="TLline"><a href="/medgen/266075" ref="tree=MeSH" title="MedGen record for von Willebrand disease type 3">von Willebrand disease type 3</a></span></li><li><span class="TLline"><a href="/medgen/220920" ref="tree=MeSH" title="MedGen record for Von Willebrand disease type 2A">Von Willebrand disease type 2A</a></span></li><li><span class="TLline"><a href="/medgen/224831" ref="tree=MeSH" title="MedGen record for Von Willebrand disease type 2B">Von Willebrand disease type 2B</a></span></li><li><span class="TLline"><a href="/medgen/266186" ref="tree=MeSH" title="MedGen record for von Willebrand disease type 2M">von Willebrand disease type 2M</a></span></li><li><span class="TLline"><a href="/medgen/266187" ref="tree=MeSH" title="MedGen record for von Willebrand disease type 2N">von Willebrand disease type 2N</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1716073" ref="tree=MeSH" title="MedGen record for Laminopathy">Laminopathy</a></span><ul><li><span class="TLline"><a href="/medgen/1708803" ref="tree=MeSH" title="MedGen record for Autosomal Emery-Dreifuss Muscular Dystrophy">Autosomal Emery-Dreifuss Muscular Dystrophy</a></span></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/2880" ref="tree=MeSH" title="MedGen record for Primary dilated cardiomyopathy">Primary dilated cardiomyopathy</a></span><ul><li><span class="TLline"><a href="/medgen/258500" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1A">Dilated cardiomyopathy 1A</a></span></li><li><span class="TLline"><a href="/medgen/316944" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1C">Dilated cardiomyopathy 1C</a></span></li><li><span class="TLline"><a href="/medgen/416441" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1DD">Dilated cardiomyopathy 1DD</a></span></li><li><span class="TLline"><a href="/medgen/322782" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1P">Dilated cardiomyopathy 1P</a></span></li><li><span class="TLline"><a href="/medgen/90951" ref="tree=MeSH" title="MedGen record for Primary familial dilated cardiomyopathy">Primary familial dilated cardiomyopathy</a></span></li></ul></li></ul></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/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/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/481660" ref="tree=MeSH" title="MedGen record for Monocytopenia with susceptibility to infections">Monocytopenia with susceptibility to infections</a></span></li><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><ul><li><span class="TLline"><a href="/medgen/976017" ref="tree=MeSH" title="MedGen record for Autosomal dominant Emery-Dreifuss muscular dystrophy">Autosomal dominant Emery-Dreifuss muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/259643" ref="tree=MeSH" title="MedGen record for Autosomal recessive Emery-Dreifuss muscular dystrophy">Autosomal recessive Emery-Dreifuss muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1720295" ref="tree=MeSH" title="MedGen record for Emery-Dreifuss muscular dystrophy 1, X-linked">Emery-Dreifuss muscular dystrophy 1, X-linked</a></span></li><li><span class="TLline"><a href="/medgen/98048" ref="tree=MeSH" title="MedGen record for Emery-Dreifuss muscular dystrophy 2, autosomal dominant">Emery-Dreifuss muscular dystrophy 2, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/413212" ref="tree=MeSH" title="MedGen record for Emery-Dreifuss muscular dystrophy 3, autosomal recessive">Emery-Dreifuss muscular dystrophy 3, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/148284" ref="tree=MeSH" title="MedGen record for X-linked Emery-Dreifuss muscular dystrophy">X-linked Emery-Dreifuss muscular dystrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/65956" ref="tree=MeSH" title="MedGen record for Facioscapulohumeral muscular dystrophy">Facioscapulohumeral muscular dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1727901" ref="tree=MeSH" title="MedGen record for Facioscapulohumeral muscular dystrophy 1">Facioscapulohumeral muscular dystrophy 1</a></span></li><li><span class="TLline"><a href="/medgen/320405" ref="tree=MeSH" title="MedGen record for Facioscapulohumeral muscular dystrophy 2">Facioscapulohumeral muscular dystrophy 2</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/419194" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy">Autosomal recessive limb-girdle muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/358391" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2A">Autosomal recessive limb-girdle muscular dystrophy type 2A</a></span></li><li><span class="TLline"><a href="/medgen/338149" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2B">Autosomal recessive limb-girdle muscular dystrophy type 2B</a></span></li><li><span class="TLline"><a href="/medgen/424706" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2D">Autosomal recessive limb-girdle muscular dystrophy type 2D</a></span></li><li><span class="TLline"><a href="/medgen/347674" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2E">Autosomal recessive limb-girdle muscular dystrophy type 2E</a></span></li><li><span class="TLline"><a href="/medgen/934627" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2R1">Autosomal recessive limb-girdle muscular dystrophy type 2R1</a></span></li><li><span class="TLline"><a href="/medgen/1385152" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2Y">Autosomal recessive limb-girdle muscular dystrophy type 2Y</a></span></li><li><span class="TLline"><a href="/medgen/371358" ref="tree=MeSH" title="MedGen record for Limb-Girdle Muscular Dystrophy Type 1C">Limb-Girdle Muscular Dystrophy Type 1C</a></span></li><li><span class="TLline"><a href="/medgen/1826162" ref="tree=MeSH" title="MedGen record for Muscular dystrophy, limb-girdle, autosomal dominant">Muscular dystrophy, limb-girdle, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/424705" ref="tree=MeSH" title="MedGen record for Sarcoglycanopathy">Sarcoglycanopathy</a></span></li></ul></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/75730" ref="tree=MeSH" title="MedGen record for Oculopharyngeal muscular dystrophy">Oculopharyngeal muscular dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1054618" ref="tree=MeSH" title="MedGen record for Oculopharyngeal muscular dystrophy 1">Oculopharyngeal muscular dystrophy 1</a></span></li><li><span class="TLline"><a href="/medgen/1841318" ref="tree=MeSH" title="MedGen record for Oculopharyngeal muscular dystrophy 2">Oculopharyngeal muscular dystrophy 2</a></span></li></ul></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></ul></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/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/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></ul></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/98479" ref="tree=MeSH" title="MedGen record for Desbuquois syndrome">Desbuquois syndrome</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/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/43781" ref="tree=MeSH" title="MedGen record for Infantile cortical hyperostosis">Infantile cortical hyperostosis</a></span></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/6009" ref="tree=MeSH" title="MedGen record for Langer-Giedion syndrome">Langer-Giedion syndrome</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/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/78548" ref="tree=MeSH" title="MedGen record for Jeune thoracic dystrophy">Jeune thoracic dystrophy</a></span></li><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/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/10617" ref="tree=MeSH" title="MedGen record for Pelger-Huët anomaly">Pelger-Huët anomaly</a></span></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/3931" ref="tree=MeSH" title="MedGen record for Severe short stature">Severe short stature</a></span><ul><li><span class="TLline"><a href="/medgen/41344" ref="tree=MeSH" title="MedGen record for Congenital hypothyroidism">Congenital hypothyroidism</a></span><ul><li><span class="TLline"><a href="/medgen/90972" ref="tree=MeSH" title="MedGen record for Congenital hypothyroidism with ectopic thyroid">Congenital hypothyroidism with ectopic thyroid</a></span></li><li><span class="TLline"><a href="/medgen/760558" ref="tree=MeSH" title="MedGen record for Congenital iodine deficiency syndrome">Congenital iodine deficiency syndrome</a></span></li><li><span class="TLline"><a href="/medgen/226940" ref="tree=MeSH" title="MedGen record for Deficiency of iodide peroxidase">Deficiency of iodide peroxidase</a></span></li><li><span class="TLline"><a href="/medgen/887085" ref="tree=MeSH" title="MedGen record for Dual Oxidase 2 Deficiency">Dual Oxidase 2 Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1670118" ref="tree=MeSH" title="MedGen record for Genetic transient congenital hypothyroidism">Genetic transient congenital hypothyroidism</a></span></li><li><span class="TLline"><a href="/medgen/124412" ref="tree=MeSH" title="MedGen record for Hypothyroidism due to iodide transport defect">Hypothyroidism due to iodide transport defect</a></span></li><li><span class="TLline"><a href="/medgen/487729" ref="tree=MeSH" title="MedGen record for Hypothyroidism due to TSH receptor mutations">Hypothyroidism due to TSH receptor mutations</a></span></li><li><span class="TLline"><a href="/medgen/358389" ref="tree=MeSH" title="MedGen record for Hypothyroidism, congenital, nongoitrous, 2">Hypothyroidism, congenital, nongoitrous, 2</a></span></li><li><span class="TLline"><a href="/medgen/87429" ref="tree=MeSH" title="MedGen record for Iodotyrosine deiodination defect">Iodotyrosine deiodination defect</a></span></li><li><span class="TLline"><a href="/medgen/78786" ref="tree=MeSH" title="MedGen record for Isolated thyroid-stimulating hormone deficiency">Isolated thyroid-stimulating hormone deficiency</a></span></li><li><span class="TLline"><a href="/medgen/82890" ref="tree=MeSH" title="MedGen record for Pendred syndrome">Pendred syndrome</a></span></li><li><span class="TLline"><a href="/medgen/883095" ref="tree=MeSH" title="MedGen record for Thyroglobulin Deficiency">Thyroglobulin Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/574883" ref="tree=MeSH" title="MedGen record for Thyroid dyshormonogenesis">Thyroid dyshormonogenesis</a></span></li><li><span class="TLline"><a href="/medgen/375935" ref="tree=MeSH" title="MedGen record for Thyroid dyshormonogenesis 6">Thyroid dyshormonogenesis 6</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78776" ref="tree=MeSH" title="MedGen record for Laron-type isolated somatotropin defect">Laron-type isolated somatotropin defect</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/8506" ref="tree=MeSH" title="MedGen record for Pituitary dwarfism">Pituitary dwarfism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/222910" ref="tree=MeSH" title="MedGen record for X-linked disease">X-linked disease</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/21102" ref="tree=MeSH" title="MedGen record for Androgen resistance syndrome">Androgen resistance syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1788327" ref="tree=MeSH" title="MedGen record for Androgen insensitivity syndrome, mild">Androgen insensitivity syndrome, mild</a></span></li><li><span class="TLline"><a href="/medgen/183188" ref="tree=MeSH" title="MedGen record for Complete androgen insensitivity syndrome">Complete androgen insensitivity syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82785" ref="tree=MeSH" title="MedGen record for Partial androgen insensitivity syndrome">Partial androgen insensitivity syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5377" ref="tree=MeSH" title="MedGen record for Chronic granulomatous disease">Chronic granulomatous disease</a></span><ul><li><span class="TLline"><a href="/medgen/383872" ref="tree=MeSH" title="MedGen record for Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative">Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative</a></span></li><li><span class="TLline"><a href="/medgen/341102" ref="tree=MeSH" title="MedGen record for Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1">Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1</a></span></li><li><span class="TLline"><a href="/medgen/383869" ref="tree=MeSH" title="MedGen record for Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2">Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2</a></span></li><li><span class="TLline"><a href="/medgen/462759" ref="tree=MeSH" title="MedGen record for Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3">Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3</a></span></li><li><span class="TLline"><a href="/medgen/336165" ref="tree=MeSH" title="MedGen record for Granulomatous disease, chronic, X-linked">Granulomatous disease, chronic, X-linked</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/403467" ref="tree=MeSH" title="MedGen record for Isolated Noncompaction of the Ventricular Myocardium">Isolated Noncompaction of the Ventricular Myocardium</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/289655" ref="tree=MeSH" title="MedGen record for Y-linked disease">Y-linked disease</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></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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/38471765">Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lacombe D,
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Bloch-Zupan A,
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Bredrup C,
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Cooper EB,
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Houge SD,
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García-Miñaúr S,
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Kayserili H,
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Larizza L,
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Lopez Gonzalez V,
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Menke LA,
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Milani D,
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Saettini F,
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Stevens CA,
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Tooke L,
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Van der Zee JA,
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Van Genderen MM,
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Van-Gils J,
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Waite J,
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Adrien JL,
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Bartsch O,
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Bitoun P,
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Bouts AHM,
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Cueto-González AM,
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Dominguez-Garrido E,
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Duijkers FA,
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Fergelot P,
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Halstead E,
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Huisman SA,
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Meossi C,
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Mullins J,
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Nikkel SM,
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Oliver C,
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Prada E,
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Rei A,
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Riddle I,
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Rodriguez-Fonseca C,
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Rodríguez Pena R,
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Russell J,
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Saba A,
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Santos-Simarro F,
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Simpson BN,
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Smith DF,
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Stevens MF,
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Szakszon K,
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Taupiac E,
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Totaro N,
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Valenzuena Palafoll I,
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Van Der Kaay DCM,
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Van Wijk MP,
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Vyshka K,
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Wiley S,
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Hennekam RC</span><br />
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<span class="medgenPMjournal">J Med Genet</span>
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||
2024 May 21;61(6):503-519.
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||
doi: 10.1136/jmg-2023-109438.
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||
<span class="bold">PMID: </span><a href="/pubmed/38471765" target="_blank">38471765</a><a href="/pmc/articles/PMC11137475" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35387861">Diagnostic validity and clinical utility of genetic testing for hypertrophic cardiomyopathy: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Christian S,
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Cirino A,
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||
Hansen B,
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||
Harris S,
|
||
Murad AM,
|
||
Natoli JL,
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||
Malinowski J,
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||
Kelly MA</span><br />
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||
<span class="medgenPMjournal">Open Heart</span>
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||
2022 Apr;9(1)
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||
doi: 10.1136/openhrt-2021-001815.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35387861" target="_blank">35387861</a><a href="/pmc/articles/PMC8987756" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29954879">Extending non-invasive prenatal testing to non-invasive prenatal diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Horton RH,
|
||
Wellesley DG</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child Fetal Neonatal Ed</span>
|
||
2019 Jan;104(1):F6-F7.
|
||
Epub 2018 Jun 28
|
||
doi: 10.1136/archdischild-2018-314845.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29954879" target="_blank">29954879</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22inborn%20genetic%20diseases%22%5Btiab%3A~0%5D)%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 (4)</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/33497260">Genetic Disease and Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roth TL,
|
||
Marson A</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Pathol</span>
|
||
2021 Jan 24;16:145-166.
|
||
doi: 10.1146/annurev-pathmechdis-012419-032626.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33497260" target="_blank">33497260</a><a href="/pmc/articles/PMC9704033" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31982299">Hypertrophic Cardiomyopathy: Challenging the Status Quo?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Younger J,
|
||
Lo A,
|
||
McCormack L,
|
||
McGaughran J,
|
||
Prasad S,
|
||
Atherton JJ</span><br />
|
||
<span class="medgenPMjournal">Heart Lung Circ</span>
|
||
2020 Apr;29(4):556-565.
|
||
Epub 2019 Dec 27
|
||
doi: 10.1016/j.hlc.2019.12.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31982299" target="_blank">31982299</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30558720">Familial Pancreatic Ductal Adenocarcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Diaz KE,
|
||
Lucas AL</span><br />
|
||
<span class="medgenPMjournal">Am J Pathol</span>
|
||
2019 Jan;189(1):36-43.
|
||
doi: 10.1016/j.ajpath.2018.06.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30558720" target="_blank">30558720</a><a href="/pmc/articles/PMC7073774" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29428278">Expanded Carrier Screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gregg AR</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol Clin North Am</span>
|
||
2018 Mar;45(1):103-112.
|
||
doi: 10.1016/j.ogc.2017.10.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29428278" target="_blank">29428278</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8035244">Prenatal diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baumann P,
|
||
McFarlin B</span><br />
|
||
<span class="medgenPMjournal">J Nurse Midwifery</span>
|
||
1994 Mar-Apr;39(2 Suppl):35S-51S.
|
||
doi: 10.1016/0091-2182(94)90063-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8035244" target="_blank">8035244</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20genetic%20diseases%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 (3304)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/30903542">Theranostics of Genetic Diseases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gambari R,
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<span class="bold">PMID: </span><a href="/pubmed/30903542" target="_blank">30903542</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30509934">The genetic basis of disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jackson M,
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May GHW,
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2018 Dec 3;62(5):643-723.
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<span class="bold">PMID: </span><a href="/pubmed/30509934" target="_blank">30509934</a><a href="/pmc/articles/PMC6279436" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/24819385">Autoinflammatory diseases (AID).</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dueckers G,
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2014 May;226(3):133-42.
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<span class="bold">PMID: </span><a href="/pubmed/24819385" target="_blank">24819385</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Burke W</span><br />
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<span class="medgenPMjournal">N Engl J Med</span>
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2002 Dec 5;347(23):1867-75.
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<span class="bold">PMID: </span><a href="/pubmed/12466512" target="_blank">12466512</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/8035244">Prenatal diagnosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Baumann P,
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<span class="medgenPMjournal">J Nurse Midwifery</span>
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<span class="bold">PMID: </span><a href="/pubmed/8035244" target="_blank">8035244</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20genetic%20diseases%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 (4295)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35642697">Effects of a core stability exercise program on balance and coordination in children with cerebellar ataxic cerebral palsy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Elshafey MA,
|
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Abdrabo MS,
|
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Elnaggar RK</span><br />
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<span class="medgenPMjournal">J Musculoskelet Neuronal Interact</span>
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2022 Jun 1;22(2):172-178.
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<span class="bold">PMID: </span><a href="/pubmed/35642697" target="_blank">35642697</a><a href="/pmc/articles/PMC9186458" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/32959897">CRISPR/Cas gene therapy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhang B</span><br />
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<span class="medgenPMjournal">J Cell Physiol</span>
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2021 Apr;236(4):2459-2481.
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Epub 2020 Sep 22
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<span class="bold">PMID: </span><a href="/pubmed/32959897" target="_blank">32959897</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32817613">Costly Genes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Karayiorgou M</span><br />
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<span class="medgenPMjournal">PLoS Genet</span>
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2020 Aug;16(8):e1008889.
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Epub 2020 Aug 20
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doi: 10.1371/journal.pgen.1008889.
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<span class="bold">PMID: </span><a href="/pubmed/32817613" target="_blank">32817613</a><a href="/pmc/articles/PMC7462255" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32279298">Pulmonary Alveolar Microlithiasis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Shaw BM,
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Shaw SD,
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McCormack FX</span><br />
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<span class="medgenPMjournal">Semin Respir Crit Care Med</span>
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2020 Apr;41(2):280-287.
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Epub 2020 Apr 12
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doi: 10.1055/s-0040-1702211.
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<span class="bold">PMID: </span><a href="/pubmed/32279298" target="_blank">32279298</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/27514591">Pulmonary Alveolar Microlithiasis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Saito A,
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McCormack FX</span><br />
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<span class="medgenPMjournal">Clin Chest Med</span>
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2016 Sep;37(3):441-8.
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Epub 2016 Jun 24
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doi: 10.1016/j.ccm.2016.04.007.
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<span class="bold">PMID: </span><a href="/pubmed/27514591" target="_blank">27514591</a><a href="/pmc/articles/PMC4987712" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20genetic%20diseases%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 (1061)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/32703953">Hodgkin lymphoma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Connors JM,
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Cozen W,
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Steidl C,
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Carbone A,
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Hoppe RT,
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Flechtner HH,
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Bartlett NL</span><br />
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<span class="medgenPMjournal">Nat Rev Dis Primers</span>
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2020 Jul 23;6(1):61.
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doi: 10.1038/s41572-020-0189-6.
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<span class="bold">PMID: </span><a href="/pubmed/32703953" target="_blank">32703953</a></div>
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||
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<div class="nl"><a target="_blank" href="/pubmed/30558720">Familial Pancreatic Ductal Adenocarcinoma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Diaz KE,
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Lucas AL</span><br />
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<span class="medgenPMjournal">Am J Pathol</span>
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2019 Jan;189(1):36-43.
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doi: 10.1016/j.ajpath.2018.06.026.
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<span class="bold">PMID: </span><a href="/pubmed/30558720" target="_blank">30558720</a><a href="/pmc/articles/PMC7073774" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27798859">Ageing as an Important Risk Factor for Cancer.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Smetana K Jr,
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Lacina L,
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Szabo P,
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Dvořánková B,
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Brož P,
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<span class="medgenPMjournal">Anticancer Res</span>
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<span class="bold">PMID: </span><a href="/pubmed/27798859" target="_blank">27798859</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27645909">Enhancers and their dynamics during hematopoietic differentiation and emerging strategies for therapeutic action.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cico A,
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<span class="bold">PMID: </span><a href="/pubmed/27645909" target="_blank">27645909</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/1840879">Human gene therapy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Verma IM,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20genetic%20diseases%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 (1314)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/35642697">Effects of a core stability exercise program on balance and coordination in children with cerebellar ataxic cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elshafey MA,
|
||
Abdrabo MS,
|
||
Elnaggar RK</span><br />
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<span class="medgenPMjournal">J Musculoskelet Neuronal Interact</span>
|
||
2022 Jun 1;22(2):172-178.
|
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<span class="bold">PMID: </span><a href="/pubmed/35642697" target="_blank">35642697</a><a href="/pmc/articles/PMC9186458" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
|
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<div class="nl"><a target="_blank" href="/pubmed/32703953">Hodgkin lymphoma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Connors JM,
|
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Cozen W,
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Steidl C,
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Carbone A,
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Hoppe RT,
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Flechtner HH,
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Bartlett NL</span><br />
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<span class="medgenPMjournal">Nat Rev Dis Primers</span>
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2020 Jul 23;6(1):61.
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doi: 10.1038/s41572-020-0189-6.
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<span class="bold">PMID: </span><a href="/pubmed/32703953" target="_blank">32703953</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30190018">Familial Waldenström Macroglobulinemia: Families Informing Populations.</a></div>
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<span class="medgenPMjournal">Hematol Oncol Clin North Am</span>
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<span class="bold">PMID: </span><a href="/pubmed/30190018" target="_blank">30190018</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/16872993">Preimplantation genetic diagnosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bick DP,
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<span class="medgenPMjournal">Pediatr Clin North Am</span>
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<span class="bold">PMID: </span><a href="/pubmed/16872993" target="_blank">16872993</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/11342518">Genetic testing.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pagon RA,
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Hanson NB,
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<span class="bold">PMID: </span><a href="/pubmed/11342518" target="_blank">11342518</a><a href="/pmc/articles/PMC1071396" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20genetic%20diseases%22%20AND%20Clinical%20prediction%20guides%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 (1558)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/33761049">Isolated ACTH deficiency induced by cancer immunotherapy: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Iglesias P,
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Sánchez JC,
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Díez JJ</span><br />
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<span class="medgenPMjournal">Pituitary</span>
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2021 Aug;24(4):630-643.
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||
Epub 2021 Mar 24
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||
doi: 10.1007/s11102-021-01141-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33761049" target="_blank">33761049</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34077139">Congenital disorders and community genetic services in Nigeria: A systematic review.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Famuyiwa MK</span><br />
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<span class="medgenPMjournal">Afr J Reprod Health</span>
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2020 Sep;24(3):161-175.
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doi: 10.29063/ajrh2020/v24i3.18.
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<span class="bold">PMID: </span><a href="/pubmed/34077139" target="_blank">34077139</a></div>
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||
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<div class="nl"><a target="_blank" href="/pubmed/31983240">An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Adler A,
|
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Novelli V,
|
||
Amin AS,
|
||
Abiusi E,
|
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Care M,
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Nannenberg EA,
|
||
Feilotter H,
|
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Amenta S,
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Mazza D,
|
||
Bikker H,
|
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Sturm AC,
|
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Garcia J,
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Ackerman MJ,
|
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Hershberger RE,
|
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Perez MV,
|
||
Zareba W,
|
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Ware JS,
|
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Wilde AAM,
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Gollob MH</span><br />
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<span class="medgenPMjournal">Circulation</span>
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2020 Feb 11;141(6):418-428.
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Epub 2020 Jan 27
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doi: 10.1161/CIRCULATIONAHA.119.043132.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31983240" target="_blank">31983240</a><a href="/pmc/articles/PMC7017940" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31937893">Evidence for penetrance in patients without a family history of disease: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turner H,
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Jackson L</span><br />
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<span class="medgenPMjournal">Eur J Hum Genet</span>
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2020 May;28(5):539-550.
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Epub 2020 Jan 14
|
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doi: 10.1038/s41431-019-0556-5.
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||
<span class="bold">PMID: </span><a href="/pubmed/31937893" target="_blank">31937893</a><a href="/pmc/articles/PMC7170932" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23714436">Ovulation induction and epigenetic anomalies.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Fauque P</span><br />
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<span class="medgenPMjournal">Fertil Steril</span>
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2013 Mar 1;99(3):616-23.
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<span class="bold">PMID: </span><a href="/pubmed/23714436" target="_blank">23714436</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20genetic%20diseases%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (53)</a></div></div>
|
||
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|
||
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22inborn%20genetic%20diseases%22%5Btiab%3A~0%5D)%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(%22Inborn%20genetic%20diseases%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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