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<!--
UID=11688
ConceptID=C0039082
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Syndromic disease</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11688</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)&#10;Click for more information.">C0039082</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Cluster, Symptom; Clusters, Symptom; Symptom Cluster; Symptom Clusters; Syndrome; Syndromes</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Syndrome (64572001)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0002254" target="_blank">MONDO:0002254</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<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>
<div class="portlet_content ln">A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<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>
<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">Syndromic disease</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="matched_ds">Syndromic disease</span><ul><li><span class="TLline"><a href="/medgen/162878" ref="tree=MeSH" title="MedGen record for 11q partial monosomy syndrome">11q partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120541" ref="tree=MeSH" title="MedGen record for 13q partial monosomy syndrome">13q partial monosomy syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1657124" ref="tree=MeSH" title="MedGen record for 13q12.3 microdeletion syndrome">13q12.3 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/462652" ref="tree=MeSH" title="MedGen record for Chromosome 13q14 deletion syndrome">Chromosome 13q14 deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/355405" ref="tree=MeSH" title="MedGen record for Distal monosomy 13q">Distal monosomy 13q</a></span></li><li><span class="TLline"><a href="/medgen/1631901" ref="tree=MeSH" title="MedGen record for Monosomy 13q34">Monosomy 13q34</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/390767" ref="tree=MeSH" title="MedGen record for 15q11q13 microduplication syndrome">15q11q13 microduplication syndrome</a></span></li><li><span class="TLline"><a href="/medgen/397359" ref="tree=MeSH" title="MedGen record for 17q21 Microdeletion Syndrome">17q21 Microdeletion Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/397089" ref="tree=MeSH" title="MedGen record for 22q Telomere Deletion Syndrome">22q Telomere Deletion Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/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/452344" ref="tree=MeSH" title="MedGen record for 48,XXXY syndrome">48,XXXY syndrome</a></span></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/347562" ref="tree=MeSH" title="MedGen record for 7q11.23 microduplication syndrome">7q11.23 microduplication syndrome</a></span></li><li><span class="TLline"><a href="/medgen/61234" ref="tree=MeSH" title="MedGen record for Aarskog syndrome">Aarskog syndrome</a></span></li><li><span class="TLline"><a href="/medgen/66358" ref="tree=MeSH" title="MedGen record for Abortive cerebellar ataxia">Abortive cerebellar ataxia</a></span></li><li><span class="TLline"><a href="/medgen/231348" ref="tree=MeSH" title="MedGen record for Abstinence Syndrome">Abstinence Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/272277" ref="tree=MeSH" title="MedGen record for Achard syndrome">Achard syndrome</a></span></li><li><span class="TLline"><a href="/medgen/99176" ref="tree=MeSH" title="MedGen record for Achenbach syndrome">Achenbach syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162915" ref="tree=MeSH" title="MedGen record for Acrocallosal syndrome">Acrocallosal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/267602" ref="tree=MeSH" title="MedGen record for Acrocephalosyndactyly">Acrocephalosyndactyly</a></span><ul><li><span class="TLline"><a href="/medgen/7858" ref="tree=MeSH" title="MedGen record for Acrocephalosyndactyly type I">Acrocephalosyndactyly type I</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/67390" ref="tree=MeSH" title="MedGen record for Pfeiffer syndrome">Pfeiffer syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1726699" ref="tree=MeSH" title="MedGen record for Pfeiffer syndrome type 1">Pfeiffer syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/1761826" ref="tree=MeSH" title="MedGen record for Pfeiffer syndrome type 2">Pfeiffer syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/1748161" ref="tree=MeSH" title="MedGen record for Pfeiffer syndrome type 3">Pfeiffer syndrome type 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/64221" ref="tree=MeSH" title="MedGen record for Saethre-Chotzen syndrome">Saethre-Chotzen syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1304" ref="tree=MeSH" title="MedGen record for Acromegaly">Acromegaly</a></span></li><li><span class="TLline"><a href="/medgen/231351" ref="tree=MeSH" title="MedGen record for Acroparesthesia Syndrome">Acroparesthesia Syndrome</a></span></li><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/215295" ref="tree=MeSH" title="MedGen record for Acute coronary syndrome">Acute coronary syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/10150" ref="tree=MeSH" title="MedGen record for Myocardial infarction">Myocardial infarction</a></span><ul><li><span class="TLline"><a href="/medgen/57611" ref="tree=MeSH" title="MedGen record for Acute myocardial infarction">Acute myocardial infarction</a></span></li><li><span class="TLline"><a href="/medgen/83304" ref="tree=MeSH" title="MedGen record for Anterior Wall Myocardial Infarction">Anterior Wall Myocardial Infarction</a></span></li><li><span class="TLline"><a href="/medgen/48650" ref="tree=MeSH" title="MedGen record for Cardiogenic shock">Cardiogenic shock</a></span></li><li><span class="TLline"><a href="/medgen/83305" ref="tree=MeSH" title="MedGen record for Inferior myocardial infarction">Inferior myocardial infarction</a></span></li><li><span class="TLline"><a href="/medgen/1721383" ref="tree=MeSH" title="MedGen record for Myocardial infarction with non-obstructive coronary artery">Myocardial infarction with non-obstructive coronary artery</a></span></li><li><span class="TLline"><a href="/medgen/901810" ref="tree=MeSH" title="MedGen record for Non ST Elevated Myocardial Infarction">Non ST Elevated Myocardial Infarction</a></span></li><li><span class="TLline"><a href="/medgen/57612" ref="tree=MeSH" title="MedGen record for Old myocardial infarction">Old myocardial infarction</a></span></li><li><span class="TLline"><a href="/medgen/83307" ref="tree=MeSH" title="MedGen record for Silent myocardial infarction">Silent myocardial infarction</a></span></li><li><span class="TLline"><a href="/medgen/906421" ref="tree=MeSH" title="MedGen record for ST Segment Elevation Myocardial Infarction">ST Segment Elevation Myocardial Infarction</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/43097" ref="tree=MeSH" title="MedGen record for Acute febrile neutrophilic dermatosis">Acute febrile neutrophilic dermatosis</a></span></li><li><span class="TLline"><a href="/medgen/1741" ref="tree=MeSH" title="MedGen record for Adams-Stokes syndrome">Adams-Stokes syndrome</a></span></li><li><span class="TLline"><a href="/medgen/20540" ref="tree=MeSH" title="MedGen record for Adult acute respiratory distress syndrome">Adult acute respiratory distress syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1727950" ref="tree=MeSH" title="MedGen record for COVID-19-Associated Acute Respiratory Distress Syndrome">COVID-19-Associated Acute Respiratory Distress Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1773269" ref="tree=MeSH" title="MedGen record for Mild Acute Respiratory Distress Syndrome">Mild Acute Respiratory Distress Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1752671" ref="tree=MeSH" title="MedGen record for Moderate Acute Respiratory Distress Syndrome">Moderate Acute Respiratory Distress Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1724501" ref="tree=MeSH" title="MedGen record for Severe Acute Respiratory Distress Syndrome">Severe Acute Respiratory Distress Syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/61236" ref="tree=MeSH" title="MedGen record for Aicardi syndrome">Aicardi syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162912" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 1">Aicardi-Goutieres syndrome 1</a></span><ul><li><span class="TLline"><a href="/medgen/461665" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 1, autosomal dominant">Aicardi-Goutieres syndrome 1, autosomal dominant</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/483677" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 2">Aicardi-Goutieres syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/413116" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 5">Aicardi-Goutieres syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/854829" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 7">Aicardi-Goutieres syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/473310" ref="tree=MeSH" title="MedGen record for Alice in Wonderland syndrome">Alice in Wonderland syndrome</a></span></li><li><span class="TLline"><a href="/medgen/208645" ref="tree=MeSH" title="MedGen record for Allan-Herndon-Dudley syndrome">Allan-Herndon-Dudley syndrome</a></span></li><li><span class="TLline"><a href="/medgen/337145" ref="tree=MeSH" title="MedGen record for Alpha thalassemia-X-linked intellectual disability syndrome">Alpha thalassemia-X-linked intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/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/339209" ref="tree=MeSH" title="MedGen record for Alport syndrome">Alport syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1848787" ref="tree=MeSH" title="MedGen record for Autosomal dominant Alport syndrome">Autosomal dominant Alport syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1648334" ref="tree=MeSH" title="MedGen record for Autosomal recessive Alport syndrome">Autosomal recessive Alport syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1648433" ref="tree=MeSH" title="MedGen record for X-linked Alport syndrome">X-linked Alport syndrome</a></span></li><li><span class="TLline"><a href="/medgen/333429" ref="tree=MeSH" title="MedGen record for X-linked diffuse leiomyomatosis-Alport syndrome">X-linked diffuse leiomyomatosis-Alport syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78675" ref="tree=MeSH" title="MedGen record for Alstrom syndrome">Alstrom syndrome</a></span></li><li><span class="TLline"><a href="/medgen/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/9646" ref="tree=MeSH" title="MedGen record for Angioosteohypertrophic syndrome">Angioosteohypertrophic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1648501" ref="tree=MeSH" title="MedGen record for Capillary malformation-arteriovenous malformation 1">Capillary malformation-arteriovenous malformation 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/140788" ref="tree=MeSH" title="MedGen record for Anti-glomerular basement membrane disease">Anti-glomerular basement membrane disease</a></span></li><li><span class="TLline"><a href="/medgen/38834" ref="tree=MeSH" title="MedGen record for Antiphospholipid syndrome">Antiphospholipid syndrome</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/1616" ref="tree=MeSH" title="MedGen record for Aortic arch syndrome">Aortic arch syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/21458" ref="tree=MeSH" title="MedGen record for Takayasu arteritis">Takayasu arteritis</a></span></li><li><span class="TLline"><a href="/medgen/65131" ref="tree=MeSH" title="MedGen record for Vascular ring">Vascular ring</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/163654" ref="tree=MeSH" title="MedGen record for APL Differentiation Syndrome">APL Differentiation Syndrome</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/75697" ref="tree=MeSH" title="MedGen record for Arakawa syndrome 2">Arakawa syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/138095" ref="tree=MeSH" title="MedGen record for Arterial steal syndrome">Arterial steal syndrome</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/230896" ref="tree=MeSH" title="MedGen record for Ataxia-pancytopenia syndrome">Ataxia-pancytopenia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/444141" ref="tree=MeSH" title="MedGen record for Atypical hemolytic-uremic syndrome">Atypical hemolytic-uremic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1842625" ref="tree=MeSH" title="MedGen record for Atypical hemolytic uremic syndrome with complement gene abnormality">Atypical hemolytic uremic syndrome with complement gene abnormality</a></span></li><li><span class="TLline"><a href="/medgen/1788163" ref="tree=MeSH" title="MedGen record for Atypical Hemolytic Uremic Syndrome-4">Atypical Hemolytic Uremic Syndrome-4</a></span></li><li><span class="TLline"><a href="/medgen/1825998" ref="tree=MeSH" title="MedGen record for Atypical hemolytic-uremic syndrome with anti-factor H antibodies">Atypical hemolytic-uremic syndrome with anti-factor H antibodies</a></span></li><li><span class="TLline"><a href="/medgen/416691" ref="tree=MeSH" title="MedGen record for Atypical hemolytic-uremic syndrome with B factor anomaly">Atypical hemolytic-uremic syndrome with B factor anomaly</a></span></li><li><span class="TLline"><a href="/medgen/442875" ref="tree=MeSH" title="MedGen record for Atypical hemolytic-uremic syndrome with C3 anomaly">Atypical hemolytic-uremic syndrome with C3 anomaly</a></span></li><li><span class="TLline"><a href="/medgen/414542" ref="tree=MeSH" title="MedGen record for Atypical hemolytic-uremic syndrome with I factor anomaly">Atypical hemolytic-uremic syndrome with I factor anomaly</a></span></li><li><span class="TLline"><a href="/medgen/414167" ref="tree=MeSH" title="MedGen record for Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly">Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly</a></span></li><li><span class="TLline"><a href="/medgen/414541" ref="tree=MeSH" title="MedGen record for Atypical hemolytic-uremic syndrome with thrombomodulin anomaly">Atypical hemolytic-uremic syndrome with thrombomodulin anomaly</a></span></li><li><span class="TLline"><a href="/medgen/885565" ref="tree=MeSH" title="MedGen record for Familial Atypical Hemolytic-Uremic Syndrome">Familial Atypical Hemolytic-Uremic Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/430731" ref="tree=MeSH" title="MedGen record for Hemolytic uremic syndrome, atypical, childhood">Hemolytic uremic syndrome, atypical, childhood</a></span></li><li><span class="TLline"><a href="/medgen/370773" ref="tree=MeSH" title="MedGen record for Hemolytic uremic syndrome, atypical, susceptibility to">Hemolytic uremic syndrome, atypical, susceptibility to</a></span></li><li><span class="TLline"><a href="/medgen/412743" ref="tree=MeSH" title="MedGen record for Hemolytic uremic syndrome, atypical, susceptibility to, 1">Hemolytic uremic syndrome, atypical, susceptibility to, 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1383668" ref="tree=MeSH" title="MedGen record for Autoimmune Polyglandular Syndrome">Autoimmune Polyglandular Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/39125" ref="tree=MeSH" title="MedGen record for Polyglandular autoimmune syndrome, type 1">Polyglandular autoimmune syndrome, type 1</a></span></li><li><span class="TLline"><a href="/medgen/39126" ref="tree=MeSH" title="MedGen record for Polyglandular autoimmune syndrome, type 2">Polyglandular autoimmune syndrome, type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/855741" ref="tree=MeSH" title="MedGen record for Autoinflammatory syndrome">Autoinflammatory 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/1676574" ref="tree=MeSH" title="MedGen record for Deficiency of the interleukin-36 receptor antagonist">Deficiency of the interleukin-36 receptor antagonist</a></span></li><li><span class="TLline"><a href="/medgen/120634" ref="tree=MeSH" title="MedGen record for Familial amyloid nephropathy with urticaria AND deafness">Familial amyloid nephropathy with urticaria AND deafness</a></span></li><li><span class="TLline"><a href="/medgen/137986" ref="tree=MeSH" title="MedGen record for Familial cold autoinflammatory syndrome">Familial cold autoinflammatory syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1647324" ref="tree=MeSH" title="MedGen record for Familial cold autoinflammatory syndrome 1">Familial cold autoinflammatory syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/435869" ref="tree=MeSH" title="MedGen record for Familial cold autoinflammatory syndrome 2">Familial cold autoinflammatory syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/482544" ref="tree=MeSH" title="MedGen record for Familial cold autoinflammatory syndrome 3">Familial cold autoinflammatory syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/863713" ref="tree=MeSH" title="MedGen record for Familial cold autoinflammatory syndrome 4">Familial cold autoinflammatory syndrome 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/351273" ref="tree=MeSH" title="MedGen record for Majeed syndrome">Majeed syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1787189" ref="tree=MeSH" title="MedGen record for NEMO Deleted Exon 5 Autoinflammatory Syndrome">NEMO Deleted Exon 5 Autoinflammatory Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1648310" ref="tree=MeSH" title="MedGen record for Proteasome-associated autoinflammatory syndrome 1">Proteasome-associated autoinflammatory syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/346801" ref="tree=MeSH" title="MedGen record for Pyogenic arthritis-pyoderma gangrenosum-acne syndrome">Pyogenic arthritis-pyoderma gangrenosum-acne syndrome</a></span></li><li><span class="TLline"><a href="/medgen/411230" ref="tree=MeSH" title="MedGen record for Sterile multifocal osteomyelitis with periostitis and pustulosis">Sterile multifocal osteomyelitis with periostitis and pustulosis</a></span></li><li><span class="TLline"><a href="/medgen/854914" ref="tree=MeSH" title="MedGen record for Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome">Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/382676" ref="tree=MeSH" title="MedGen record for Autosomal dominant deafness - onychodystrophy syndrome">Autosomal dominant deafness - onychodystrophy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1373312" ref="tree=MeSH" title="MedGen record for Autosomal dominant Kenny-Caffey syndrome">Autosomal dominant Kenny-Caffey syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340923" ref="tree=MeSH" title="MedGen record for Autosomal recessive Kenny-Caffey syndrome">Autosomal recessive Kenny-Caffey syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82696" ref="tree=MeSH" title="MedGen record for Autosomal recessive multiple pterygium syndrome">Autosomal recessive multiple pterygium syndrome</a></span></li><li><span class="TLline"><a href="/medgen/811487" ref="tree=MeSH" title="MedGen record for Axenfeld-Rieger syndrome type 1">Axenfeld-Rieger syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/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/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/2172" ref="tree=MeSH" title="MedGen record for Bartter syndrome">Bartter syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/893350" ref="tree=MeSH" title="MedGen record for Antenatal Bartter syndrome">Antenatal Bartter syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/355727" ref="tree=MeSH" title="MedGen record for Bartter disease type 1">Bartter disease type 1</a></span></li><li><span class="TLline"><a href="/medgen/343428" ref="tree=MeSH" title="MedGen record for Bartter disease type 2">Bartter disease type 2</a></span></li><li><span class="TLline"><a href="/medgen/934787" ref="tree=MeSH" title="MedGen record for Bartter disease type 5">Bartter disease type 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/335399" ref="tree=MeSH" title="MedGen record for Bartter disease type 3">Bartter disease type 3</a></span></li><li><span class="TLline"><a href="/medgen/355430" ref="tree=MeSH" title="MedGen record for Bartter disease type 4A">Bartter disease type 4A</a></span></li><li><span class="TLline"><a href="/medgen/934772" ref="tree=MeSH" title="MedGen record for Bartter disease type 4B">Bartter disease type 4B</a></span></li><li><span class="TLline"><a href="/medgen/824706" ref="tree=MeSH" title="MedGen record for Bartter syndrome type 4">Bartter syndrome type 4</a></span></li><li><span class="TLline"><a href="/medgen/811594" ref="tree=MeSH" title="MedGen record for Bartter syndrome with hypocalcemia">Bartter syndrome with hypocalcemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/14039" ref="tree=MeSH" title="MedGen record for Basilar artery insufficiency">Basilar artery insufficiency</a></span></li><li><span class="TLline"><a href="/medgen/377668" ref="tree=MeSH" title="MedGen record for Beare-Stevenson cutis gyrata syndrome">Beare-Stevenson cutis gyrata syndrome</a></span></li><li><span class="TLline"><a href="/medgen/2568" ref="tree=MeSH" title="MedGen record for Behcet disease">Behcet disease</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/417683" ref="tree=MeSH" title="MedGen record for Bile Acid Synthesis Defect">Bile Acid Synthesis Defect</a></span></li><li><span class="TLline"><a href="/medgen/1684759" ref="tree=MeSH" title="MedGen record for Blau syndrome">Blau syndrome</a></span></li><li><span class="TLline"><a href="/medgen/208678" ref="tree=MeSH" title="MedGen record for Bohring-Opitz syndrome">Bohring-Opitz syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1788799" ref="tree=MeSH" title="MedGen record for Bone Cement Implantation Syndrome">Bone Cement Implantation Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419754" ref="tree=MeSH" title="MedGen record for Bone marrow failure syndrome">Bone marrow failure syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/8063" ref="tree=MeSH" title="MedGen record for Aplastic anemia">Aplastic anemia</a></span><ul><li><span class="TLline"><a href="/medgen/75769" ref="tree=MeSH" title="MedGen record for Aplastic anemia due to drugs">Aplastic anemia due to drugs</a></span></li><li><span class="TLline"><a href="/medgen/124414" ref="tree=MeSH" title="MedGen record for Aplastic anemia due to infection">Aplastic anemia due to infection</a></span></li><li><span class="TLline"><a href="/medgen/99172" ref="tree=MeSH" title="MedGen record for Aplastic anemia due to radiation">Aplastic anemia due to radiation</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/87595" ref="tree=MeSH" title="MedGen record for Idiopathic aplastic anemia">Idiopathic aplastic anemia</a></span></li><li><span class="TLline"><a href="/medgen/1750439" ref="tree=MeSH" title="MedGen record for Non-Severe Aplastic Anemia">Non-Severe Aplastic Anemia</a></span></li><li><span class="TLline"><a href="/medgen/1661033" ref="tree=MeSH" title="MedGen record for Recurrent Aplastic Anemia">Recurrent Aplastic Anemia</a></span></li><li><span class="TLline"><a href="/medgen/407975" ref="tree=MeSH" title="MedGen record for Severe Aplastic Anemia">Severe Aplastic Anemia</a></span></li><li><span class="TLline"><a href="/medgen/1732130" ref="tree=MeSH" title="MedGen record for Very Severe Aplastic Anemia">Very Severe Aplastic Anemia</a></span></li></ul></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/78580" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita">Dyskeratosis congenita</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/124418" ref="tree=MeSH" title="MedGen record for Shwachman syndrome">Shwachman syndrome</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/315907" ref="tree=MeSH" title="MedGen record for Bonnevie-Ullrich syndrome">Bonnevie-Ullrich syndrome</a></span></li><li><span class="TLline"><a href="/medgen/69225" ref="tree=MeSH" title="MedGen record for Brown-Séquard syndrome">Brown-Séquard syndrome</a></span></li><li><span class="TLline"><a href="/medgen/163239" ref="tree=MeSH" title="MedGen record for Brown-Vialetto-van Laere syndrome 1">Brown-Vialetto-van Laere syndrome 1</a></span></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/14254" ref="tree=MeSH" title="MedGen record for Burning mouth syndrome">Burning mouth syndrome</a></span></li><li><span class="TLline"><a href="/medgen/2404" ref="tree=MeSH" title="MedGen record for Calciphylaxis">Calciphylaxis</a></span><ul><li><span class="TLline"><a href="/medgen/900547" ref="tree=MeSH" title="MedGen record for Calciphylaxis cutis">Calciphylaxis cutis</a></span></li><li><span class="TLline"><a href="/medgen/1664968" ref="tree=MeSH" title="MedGen record for Visceral calciphylaxis">Visceral calciphylaxis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1684796" ref="tree=MeSH" title="MedGen record for CALFAN syndrome">CALFAN syndrome</a></span></li><li><span class="TLline"><a href="/medgen/2811" ref="tree=MeSH" title="MedGen record for Capgras syndrome">Capgras syndrome</a></span></li><li><span class="TLline"><a href="/medgen/137987" ref="tree=MeSH" title="MedGen record for Capillary leak syndrome">Capillary leak syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1648330" ref="tree=MeSH" title="MedGen record for Cardiac, facial, and digital anomalies with developmental delay">Cardiac, facial, and digital anomalies with developmental delay</a></span></li><li><span class="TLline"><a href="/medgen/453248" ref="tree=MeSH" title="MedGen record for Cardio-renal syndrome">Cardio-renal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/2856" ref="tree=MeSH" title="MedGen record for Carpal tunnel syndrome">Carpal tunnel syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1830382" ref="tree=MeSH" title="MedGen record for Carpal tunnel syndrome 1">Carpal tunnel syndrome 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/120543" ref="tree=MeSH" title="MedGen record for Cat eye syndrome">Cat eye syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98229" ref="tree=MeSH" title="MedGen record for Cauda equina syndrome">Cauda equina syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/2916" ref="tree=MeSH" title="MedGen record for Cauda equina syndrome with neurogenic bladder">Cauda equina syndrome with neurogenic bladder</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/81254" ref="tree=MeSH" title="MedGen record for Caudal regression sequence">Caudal regression sequence</a></span></li><li><span class="TLline"><a href="/medgen/462153" ref="tree=MeSH" title="MedGen record for CBL-related disorder">CBL-related disorder</a></span></li><li><span class="TLline"><a href="/medgen/854402" ref="tree=MeSH" title="MedGen record for Central sleep apnea syndrome">Central sleep apnea syndrome</a></span></li><li><span class="TLline"><a href="/medgen/853935" ref="tree=MeSH" title="MedGen record for Cerebellar Mutism">Cerebellar Mutism</a></span></li><li><span class="TLline"><a href="/medgen/199687" ref="tree=MeSH" title="MedGen record for Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy">Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy</a></span><ul><li><span class="TLline"><a href="/medgen/325051" ref="tree=MeSH" title="MedGen record for CARASIL syndrome">CARASIL syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1634330" ref="tree=MeSH" title="MedGen record for Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1">Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1</a></span></li><li><span class="TLline"><a href="/medgen/895965" ref="tree=MeSH" title="MedGen record for Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2">Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1758700" ref="tree=MeSH" title="MedGen record for Cerebral Hyperperfusion Syndrome">Cerebral Hyperperfusion Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/386638" ref="tree=MeSH" title="MedGen record for Cervicocranial syndrome">Cervicocranial syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75567" ref="tree=MeSH" title="MedGen record for CHARGE syndrome">CHARGE syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78658" ref="tree=MeSH" title="MedGen record for Cholestasis-edema syndrome, Norwegian type">Cholestasis-edema syndrome, Norwegian type</a></span></li><li><span class="TLline"><a href="/medgen/394455" ref="tree=MeSH" title="MedGen record for Christianson syndrome">Christianson syndrome</a></span></li><li><span class="TLline"><a href="/medgen/777190" ref="tree=MeSH" title="MedGen record for Chromosome 16p11.2 deletion syndrome">Chromosome 16p11.2 deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/460626" ref="tree=MeSH" title="MedGen record for Chromosome 16p12.1 deletion syndrome, 520kb">Chromosome 16p12.1 deletion syndrome, 520kb</a></span></li><li><span class="TLline"><a href="/medgen/334629" ref="tree=MeSH" title="MedGen record for Chromosome 1p36 deletion syndrome">Chromosome 1p36 deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419169" ref="tree=MeSH" title="MedGen record for Chromosome 2q37 deletion syndrome">Chromosome 2q37 deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/895673" ref="tree=MeSH" title="MedGen record for Chromosome 8-derived supernumerary ring/marker">Chromosome 8-derived supernumerary ring/marker</a></span></li><li><span class="TLline"><a href="/medgen/98370" ref="tree=MeSH" title="MedGen record for Chronic infantile neurological, cutaneous and articular syndrome">Chronic infantile neurological, cutaneous and articular syndrome</a></span></li><li><span class="TLline"><a href="/medgen/3486" ref="tree=MeSH" title="MedGen record for Cleidocranial dysostosis">Cleidocranial dysostosis</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><ul><li><span class="TLline"><a href="/medgen/66320" ref="tree=MeSH" title="MedGen record for Cerebrooculofacioskeletal syndrome 1">Cerebrooculofacioskeletal syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/342798" ref="tree=MeSH" title="MedGen record for Cerebrooculofacioskeletal syndrome 4">Cerebrooculofacioskeletal syndrome 4</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/333031" ref="tree=MeSH" title="MedGen record for CODAS syndrome">CODAS syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75556" ref="tree=MeSH" title="MedGen record for Coffin-Lowry syndrome">Coffin-Lowry syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75565" ref="tree=MeSH" title="MedGen record for Coffin-Siris syndrome">Coffin-Siris syndrome</a></span></li><li><span class="TLline"><a href="/medgen/218910" ref="tree=MeSH" title="MedGen record for Cogan-Reese syndrome">Cogan-Reese syndrome</a></span></li><li><span class="TLline"><a href="/medgen/338577" ref="tree=MeSH" title="MedGen record for Cold-induced sweating syndrome 1">Cold-induced sweating syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/342816" ref="tree=MeSH" title="MedGen record for Cold-induced sweating syndrome 2">Cold-induced sweating syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/350614" ref="tree=MeSH" title="MedGen record for Cole-Carpenter syndrome">Cole-Carpenter syndrome</a></span></li><li><span class="TLline"><a href="/medgen/40417" ref="tree=MeSH" title="MedGen record for Compartment syndrome">Compartment syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1569" ref="tree=MeSH" title="MedGen record for Anterior compartment of tibia syndrome">Anterior compartment of tibia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1711297" ref="tree=MeSH" title="MedGen record for Chronic Exertional Compartment Syndrome">Chronic Exertional Compartment Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/453249" ref="tree=MeSH" title="MedGen record for Intra-Abdominal Hypertension">Intra-Abdominal Hypertension</a></span></li><li><span class="TLline"><a href="/medgen/22684" ref="tree=MeSH" title="MedGen record for Volkmann contracture">Volkmann contracture</a></span></li></ul></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/56262" ref="tree=MeSH" title="MedGen record for Complete trisomy 18">Complete trisomy 18</a></span></li><li><span class="TLline"><a href="/medgen/1624021" ref="tree=MeSH" title="MedGen record for Complete trisomy 21">Complete trisomy 21</a></span></li><li><span class="TLline"><a href="/medgen/11159" ref="tree=MeSH" title="MedGen record for Complex regional pain syndrome type 1">Complex regional pain syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/2918" ref="tree=MeSH" title="MedGen record for Complex regional pain syndrome type 2">Complex regional pain syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/235163" ref="tree=MeSH" title="MedGen record for Congenital absence of germinal epithelium of testes">Congenital absence of germinal epithelium of testes</a></span></li><li><span class="TLline"><a href="/medgen/20539" ref="tree=MeSH" title="MedGen record for Congenital alveolar dysplasia">Congenital alveolar dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/5656" ref="tree=MeSH" title="MedGen record for Hyaline membrane disease">Hyaline membrane disease</a></span></li><li><span class="TLline"><a href="/medgen/452136" ref="tree=MeSH" title="MedGen record for Transitory tachypnea of newborn">Transitory tachypnea of newborn</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/220902" ref="tree=MeSH" title="MedGen record for Congenital central hypoventilation">Congenital central hypoventilation</a></span><ul><li><span class="TLline"><a href="/medgen/1794174" ref="tree=MeSH" title="MedGen record for Central hypoventilation syndrome, congenital, 3">Central hypoventilation syndrome, congenital, 3</a></span></li><li><span class="TLline"><a href="/medgen/1794285" ref="tree=MeSH" title="MedGen record for Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease">Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease</a></span></li><li><span class="TLline"><a href="/medgen/1794173" ref="tree=MeSH" title="MedGen record for Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction">Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/76469" ref="tree=MeSH" title="MedGen record for Congenital disorder of glycosylation">Congenital disorder of glycosylation</a></span><ul><li><span class="TLline"><a href="/medgen/419308" ref="tree=MeSH" title="MedGen record for ALG1-congenital disorder of glycosylation">ALG1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/462263" ref="tree=MeSH" title="MedGen record for ALG11-congenital disorder of glycosylation">ALG11-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/443954" ref="tree=MeSH" title="MedGen record for ALG12-congenital disorder of glycosylation">ALG12-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/334618" ref="tree=MeSH" title="MedGen record for ALG2-congenital disorder of glycosylation">ALG2-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/322026" ref="tree=MeSH" title="MedGen record for ALG3-congenital disorder of glycosylation">ALG3-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/443952" ref="tree=MeSH" title="MedGen record for ALG6-congenital disorder of glycosylation 1C">ALG6-congenital disorder of glycosylation 1C</a></span></li><li><span class="TLline"><a href="/medgen/419692" ref="tree=MeSH" title="MedGen record for ALG8 congenital disorder of glycosylation">ALG8 congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/443955" ref="tree=MeSH" title="MedGen record for ALG9 congenital disorder of glycosylation">ALG9 congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/419310" ref="tree=MeSH" title="MedGen record for B4GALT1-congenital disorder of glycosylation">B4GALT1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/443957" ref="tree=MeSH" title="MedGen record for COG1 congenital disorder of glycosylation">COG1 congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/929221" ref="tree=MeSH" title="MedGen record for COG4-congenital disorder of glycosylation">COG4-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/462226" ref="tree=MeSH" title="MedGen record for COG5-congenital disorder of glycosylation">COG5-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/766144" ref="tree=MeSH" title="MedGen record for COG6-congenital disorder of glycosylation">COG6-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/419311" ref="tree=MeSH" title="MedGen record for COG7 congenital disorder of glycosylation">COG7 congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/409971" ref="tree=MeSH" title="MedGen record for COG8-congenital disorder of glycosylation">COG8-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/815321" ref="tree=MeSH" title="MedGen record for Congenital disorder of deglycosylation">Congenital disorder of deglycosylation</a></span><ul><li><span class="TLline"><a href="/medgen/989503" ref="tree=MeSH" title="MedGen record for Congenital disorder of deglycosylation 1">Congenital disorder of deglycosylation 1</a></span></li><li><span class="TLline"><a href="/medgen/1809253" ref="tree=MeSH" title="MedGen record for Congenital disorder of deglycosylation 2">Congenital disorder of deglycosylation 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/324784" ref="tree=MeSH" title="MedGen record for Congenital disorder of glycosylation type 1E">Congenital disorder of glycosylation type 1E</a></span></li><li><span class="TLline"><a href="/medgen/1682844" ref="tree=MeSH" title="MedGen record for Congenital muscular dystrophy with intellectual disability and severe epilepsy">Congenital muscular dystrophy with intellectual disability and severe epilepsy</a></span></li><li><span class="TLline"><a href="/medgen/1382656" ref="tree=MeSH" title="MedGen record for Developmental and epileptic encephalopathy, 36">Developmental and epileptic encephalopathy, 36</a></span></li><li><span class="TLline"><a href="/medgen/332072" ref="tree=MeSH" title="MedGen record for DK1-congenital disorder of glycosylation">DK1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/419694" ref="tree=MeSH" title="MedGen record for DPAGT1-congenital disorder of glycosylation">DPAGT1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/414534" ref="tree=MeSH" title="MedGen record for DPM3-congenital disorder of glycosylation">DPM3-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/96022" ref="tree=MeSH" title="MedGen record for Leukocyte adhesion deficiency type II">Leukocyte adhesion deficiency type II</a></span></li><li><span class="TLline"><a href="/medgen/443956" ref="tree=MeSH" title="MedGen record for MGAT2-congenital disorder of glycosylation">MGAT2-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/342954" ref="tree=MeSH" title="MedGen record for MOGS-congenital disorder of glycosylation">MOGS-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/322968" ref="tree=MeSH" title="MedGen record for MPDU1-congenital disorder of glycosylation">MPDU1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/400692" ref="tree=MeSH" title="MedGen record for MPI-congenital disorder of glycosylation">MPI-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/414536" ref="tree=MeSH" title="MedGen record for PGM1-congenital disorder of glycosylation">PGM1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/138111" ref="tree=MeSH" title="MedGen record for PMM2-congenital disorder of glycosylation">PMM2-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/383145" ref="tree=MeSH" title="MedGen record for RFT1-congenital disorder of glycosylation">RFT1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/370234" ref="tree=MeSH" title="MedGen record for SLC35A1-congenital disorder of glycosylation">SLC35A1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/1392124" ref="tree=MeSH" title="MedGen record for SRD5A3-congenital disorder of glycosylation">SRD5A3-congenital disorder of glycosylation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/473392" ref="tree=MeSH" title="MedGen record for Congenital malformation syndrome">Congenital malformation syndrome</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/87473" ref="tree=MeSH" title="MedGen record for Congenital varicella syndrome">Congenital varicella syndrome</a></span></li><li><span class="TLline"><a href="/medgen/265" ref="tree=MeSH" title="MedGen record for Constriction ring syndrome">Constriction ring syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1639771" ref="tree=MeSH" title="MedGen record for Cortical Dysplasia-Focal Epilepsy Syndrome">Cortical Dysplasia-Focal Epilepsy Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75554" ref="tree=MeSH" title="MedGen record for Craniofacial microsomia">Craniofacial microsomia</a></span><ul><li><span class="TLline"><a href="/medgen/501171" ref="tree=MeSH" title="MedGen record for Craniofacial microsomia 1">Craniofacial microsomia 1</a></span></li><li><span class="TLline"><a href="/medgen/1830923" ref="tree=MeSH" title="MedGen record for Craniofacial microsomia 2">Craniofacial microsomia 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/337451" ref="tree=MeSH" title="MedGen record for Creatine transporter deficiency">Creatine transporter deficiency</a></span></li><li><span class="TLline"><a href="/medgen/60083" ref="tree=MeSH" title="MedGen record for CREST syndrome">CREST syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1789261" ref="tree=MeSH" title="MedGen record for Crigler-Najjar syndrome">Crigler-Najjar syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/41346" ref="tree=MeSH" title="MedGen record for Crigler-Najjar syndrome type 1">Crigler-Najjar syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/419718" ref="tree=MeSH" title="MedGen record for Crigler-Najjar syndrome, type II">Crigler-Najjar syndrome, type II</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/412215" ref="tree=MeSH" title="MedGen record for Cryopyrin associated periodic syndrome">Cryopyrin associated periodic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1843368" ref="tree=MeSH" title="MedGen record for F12-associated cold autoinflammatory syndrome">F12-associated cold autoinflammatory syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82692" ref="tree=MeSH" title="MedGen record for Cryptophthalmos syndrome">Cryptophthalmos syndrome</a></span></li><li><span class="TLline"><a href="/medgen/215297" ref="tree=MeSH" title="MedGen record for Cytokine release syndrome">Cytokine release syndrome</a></span></li><li><span class="TLline"><a href="/medgen/4150" ref="tree=MeSH" title="MedGen record for Dandy-Walker syndrome">Dandy-Walker syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1842616" ref="tree=MeSH" title="MedGen record for Isolated Dandy-Walker malformation with hydrocephalus">Isolated Dandy-Walker malformation with hydrocephalus</a></span></li><li><span class="TLline"><a href="/medgen/1842486" ref="tree=MeSH" title="MedGen record for Isolated Dandy-Walker malformation without hydrocephalus">Isolated Dandy-Walker malformation without hydrocephalus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78752" ref="tree=MeSH" title="MedGen record for De Lange syndrome">De Lange syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/315658" ref="tree=MeSH" title="MedGen record for Congenital muscular hypertrophy-cerebral syndrome">Congenital muscular hypertrophy-cerebral syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1645760" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 1">Cornelia de Lange syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/339902" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 3">Cornelia de Lange syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/766431" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 4">Cornelia de Lange syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/763817" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 5">Cornelia de Lange syndrome 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75550" ref="tree=MeSH" title="MedGen record for DE SANCTIS-CACCHIONE SYNDROME">DE SANCTIS-CACCHIONE SYNDROME</a></span></li><li><span class="TLline"><a href="/medgen/154356" ref="tree=MeSH" title="MedGen record for Deficiency of guanidinoacetate methyltransferase">Deficiency of guanidinoacetate methyltransferase</a></span></li><li><span class="TLline"><a href="/medgen/96605" ref="tree=MeSH" title="MedGen record for Deletion of long arm of chromosome 18">Deletion of long arm of chromosome 18</a></span></li><li><span class="TLline"><a href="/medgen/96604" ref="tree=MeSH" title="MedGen record for Deletion of short arm of chromosome 18">Deletion of short arm of chromosome 18</a></span></li><li><span class="TLline"><a href="/medgen/90979" ref="tree=MeSH" title="MedGen record for Diabetes-deafness syndrome maternally transmitted">Diabetes-deafness syndrome maternally transmitted</a></span></li><li><span class="TLline"><a href="/medgen/588475" ref="tree=MeSH" title="MedGen record for Dialysis disequilibrium syndrome">Dialysis disequilibrium syndrome</a></span></li><li><span class="TLline"><a href="/medgen/317610" ref="tree=MeSH" title="MedGen record for Dialyzer First Use Syndrome">Dialyzer First Use Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/4268" ref="tree=MeSH" title="MedGen record for Diaphyseal dysplasia">Diaphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/692756" ref="tree=MeSH" title="MedGen record for Diarrhea-associated hemolytic uremic syndrome">Diarrhea-associated hemolytic uremic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/543636" ref="tree=MeSH" title="MedGen record for Diencephalic syndrome of infancy">Diencephalic syndrome of infancy</a></span></li><li><span class="TLline"><a href="/medgen/232428" ref="tree=MeSH" title="MedGen record for Diffuse infiltrative lymphocytosis syndrome">Diffuse infiltrative lymphocytosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/167104" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome">Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1382173" ref="tree=MeSH" title="MedGen record for Distal chromosome 18q deletion syndrome">Distal chromosome 18q deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/321954" ref="tree=MeSH" title="MedGen record for Distal monosomy 10p">Distal monosomy 10p</a></span></li><li><span class="TLline"><a href="/medgen/75566" ref="tree=MeSH" title="MedGen record for Distichiasis-lymphedema syndrome">Distichiasis-lymphedema syndrome</a></span></li><li><span class="TLline"><a href="/medgen/339855" ref="tree=MeSH" title="MedGen record for DNA ligase IV deficiency">DNA ligase IV deficiency</a></span></li><li><span class="TLline"><a href="/medgen/473794" ref="tree=MeSH" title="MedGen record for Double Y syndrome">Double Y 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><ul><li><span class="TLline"><a href="/medgen/693553" ref="tree=MeSH" title="MedGen record for Translocation Down syndrome">Translocation Down syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/989330" ref="tree=MeSH" title="MedGen record for Mosaic translocation Down syndrome">Mosaic translocation Down syndrome</a></span></li><li><span class="TLline"><a href="/medgen/994147" ref="tree=MeSH" title="MedGen record for Reciprocal translocation down syndrome">Reciprocal translocation down syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1816520" ref="tree=MeSH" title="MedGen record for Robertsonian translocation Down syndrome">Robertsonian translocation Down syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/760825" ref="tree=MeSH" title="MedGen record for Trisomy 21">Trisomy 21</a></span><ul><li><span class="TLline"><a href="/medgen/419386" ref="tree=MeSH" title="MedGen record for Mosaic trisomy 21">Mosaic trisomy 21</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/762193" ref="tree=MeSH" title="MedGen record for Drug rash with eosinophilia and systemic symptoms">Drug rash with eosinophilia and systemic symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/10626" ref="tree=MeSH" title="MedGen record for Allergy to penicillin">Allergy to penicillin</a></span></li><li><span class="TLline"><a href="/medgen/817116" ref="tree=MeSH" title="MedGen record for Anticonvulsant Hypersensitivity Syndrome">Anticonvulsant Hypersensitivity Syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/4411" ref="tree=MeSH" title="MedGen record for Dry eye syndrome">Dry eye syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/9620" ref="tree=MeSH" title="MedGen record for Keratoconjunctivitis sicca">Keratoconjunctivitis sicca</a></span></li><li><span class="TLline"><a href="/medgen/282890" ref="tree=MeSH" title="MedGen record for Sjogren syndrome">Sjogren syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/508757" ref="tree=MeSH" title="MedGen record for Primary Sjögren syndrome">Primary Sjögren syndrome</a></span></li><li><span class="TLline"><a href="/medgen/508758" ref="tree=MeSH" title="MedGen record for Secondary Sjögren syndrome">Secondary Sjögren syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/12182" ref="tree=MeSH" title="MedGen record for Tear film insufficiency">Tear film insufficiency</a></span></li></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/7181" ref="tree=MeSH" title="MedGen record for Dubin-Johnson syndrome">Dubin-Johnson 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/8501" ref="tree=MeSH" title="MedGen record for Dumping syndrome">Dumping syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120527" ref="tree=MeSH" title="MedGen record for Dyggve-Melchior-Clausen syndrome">Dyggve-Melchior-Clausen syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419691" ref="tree=MeSH" title="MedGen record for Dyschromatosis universalis hereditaria">Dyschromatosis universalis hereditaria</a></span></li><li><span class="TLline"><a href="/medgen/889060" ref="tree=MeSH" title="MedGen record for Dysfunctional Elimination Syndrome">Dysfunctional Elimination Syndrome</a></span></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><ul><li><span class="TLline"><a href="/medgen/400148" ref="tree=MeSH" title="MedGen record for Ankyloblepharon filiforme adnatum-cleft palate syndrome">Ankyloblepharon filiforme adnatum-cleft palate syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1666000" ref="tree=MeSH" title="MedGen record for Ankyloblepharon filiforme-imperforate anus syndrome">Ankyloblepharon filiforme-imperforate anus syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/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><ul><li><span class="TLline"><a href="/medgen/854356" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive">Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/761671" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive">Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/1680605" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia 15, hypohidrotic/hair type">Ectodermal dysplasia 15, hypohidrotic/hair type</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/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/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><ul><li><span class="TLline"><a href="/medgen/96586" ref="tree=MeSH" title="MedGen record for Cranioectodermal dysplasia 1">Cranioectodermal dysplasia 1</a></span></li><li><span class="TLline"><a href="/medgen/462224" ref="tree=MeSH" title="MedGen record for Cranioectodermal dysplasia 2">Cranioectodermal dysplasia 2</a></span></li><li><span class="TLline"><a href="/medgen/481437" ref="tree=MeSH" title="MedGen record for Cranioectodermal dysplasia 3">Cranioectodermal dysplasia 3</a></span></li><li><span class="TLline"><a href="/medgen/482246" ref="tree=MeSH" title="MedGen record for Cranioectodermal dysplasia 4">Cranioectodermal dysplasia 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/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><ul><li><span class="TLline"><a href="/medgen/1647369" ref="tree=MeSH" title="MedGen record for Heimler syndrome 1">Heimler syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/903520" ref="tree=MeSH" title="MedGen record for Heimler syndrome 2">Heimler syndrome 2</a></span></li></ul></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/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><ul><li><span class="TLline"><a href="/medgen/375787" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia and immunodeficiency 1">Ectodermal dysplasia and immunodeficiency 1</a></span></li><li><span class="TLline"><a href="/medgen/394295" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia and immunodeficiency 2">Ectodermal dysplasia and immunodeficiency 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/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><ul><li><span class="TLline"><a href="/medgen/1718224" ref="tree=MeSH" title="MedGen record for Focal facial dermal dysplasia type I">Focal facial dermal dysplasia type I</a></span></li><li><span class="TLline"><a href="/medgen/767159" ref="tree=MeSH" title="MedGen record for Focal facial dermal dysplasia type II">Focal facial dermal dysplasia type II</a></span></li><li><span class="TLline"><a href="/medgen/315643" ref="tree=MeSH" title="MedGen record for Focal facial dermal dysplasia type III">Focal facial dermal dysplasia type III</a></span></li><li><span class="TLline"><a href="/medgen/767160" ref="tree=MeSH" title="MedGen record for Focal facial dermal dysplasia type IV">Focal facial dermal dysplasia type IV</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/333542" ref="tree=MeSH" title="MedGen record for Ambras type hypertrichosis universalis congenita">Ambras type hypertrichosis universalis congenita</a></span></li><li><span class="TLline"><a href="/medgen/1856186" ref="tree=MeSH" title="MedGen record for X-linked congenital generalized hypertrichosis">X-linked congenital generalized hypertrichosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1853123" ref="tree=MeSH" title="MedGen record for Hypohidrotic ectodermal dysplasia">Hypohidrotic ectodermal dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/539190" ref="tree=MeSH" title="MedGen record for Autosomal dominant hypohidrotic ectodermal dysplasia">Autosomal dominant hypohidrotic ectodermal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/468426" ref="tree=MeSH" title="MedGen record for Autosomal hypohidrotic ectodermal dysplasia">Autosomal hypohidrotic ectodermal dysplasia</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></ul></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/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><ul><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/2554" ref="tree=MeSH" title="MedGen record for Gorlin syndrome">Gorlin syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1646345" ref="tree=MeSH" title="MedGen record for Linear nevus sebaceous syndrome">Linear nevus sebaceous syndrome</a></span></li><li><span class="TLline"><a href="/medgen/58149" ref="tree=MeSH" title="MedGen record for Neurofibromatosis">Neurofibromatosis</a></span></li><li><span class="TLline"><a href="/medgen/21361" ref="tree=MeSH" title="MedGen record for Sturge-Weber syndrome">Sturge-Weber syndrome</a></span></li><li><span class="TLline"><a href="/medgen/22518" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis syndrome">Tuberous sclerosis syndrome</a></span></li><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/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><ul><li><span class="TLline"><a href="/medgen/353335" ref="tree=MeSH" title="MedGen record for Pachyonychia congenita 1">Pachyonychia congenita 1</a></span></li><li><span class="TLline"><a href="/medgen/314107" ref="tree=MeSH" title="MedGen record for Pachyonychia congenita 2">Pachyonychia congenita 2</a></span></li><li><span class="TLline"><a href="/medgen/811523" ref="tree=MeSH" title="MedGen record for Pachyonychia congenita 3">Pachyonychia congenita 3</a></span></li><li><span class="TLline"><a href="/medgen/811524" ref="tree=MeSH" title="MedGen record for Pachyonychia congenita 4">Pachyonychia congenita 4</a></span></li><li><span class="TLline"><a href="/medgen/75476" ref="tree=MeSH" title="MedGen record for Steatocystoma multiplex">Steatocystoma multiplex</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/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><ul><li><span class="TLline"><a href="/medgen/355730" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy 1, photosensitive">Trichothiodystrophy 1, photosensitive</a></span></li><li><span class="TLline"><a href="/medgen/905904" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy 2, photosensitive">Trichothiodystrophy 2, photosensitive</a></span></li><li><span class="TLline"><a href="/medgen/865608" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy 3, photosensitive">Trichothiodystrophy 3, photosensitive</a></span></li><li><span class="TLline"><a href="/medgen/272036" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy 4, nonphotosensitive">Trichothiodystrophy 4, nonphotosensitive</a></span></li><li><span class="TLline"><a href="/medgen/1684762" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy 7, nonphotosensitive">Trichothiodystrophy 7, nonphotosensitive</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/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/78566" ref="tree=MeSH" title="MedGen record for Ectrodactyly">Ectrodactyly</a></span><ul><li><span class="TLline"><a href="/medgen/140919" ref="tree=MeSH" title="MedGen record for Split foot">Split foot</a></span></li><li><span class="TLline"><a href="/medgen/397570" ref="tree=MeSH" title="MedGen record for Split hand">Split hand</a></span></li><li><span class="TLline"><a href="/medgen/419314" ref="tree=MeSH" title="MedGen record for Split hand-foot malformation 1">Split hand-foot malformation 1</a></span></li><li><span class="TLline"><a href="/medgen/325070" ref="tree=MeSH" title="MedGen record for Split hand-foot malformation 3">Split hand-foot malformation 3</a></span></li><li><span class="TLline"><a href="/medgen/338277" ref="tree=MeSH" title="MedGen record for Split hand-foot malformation 5">Split hand-foot malformation 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/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><ul><li><span class="TLline"><a href="/medgen/78661" ref="tree=MeSH" title="MedGen record for Brittle cornea syndrome 1">Brittle cornea syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/481641" ref="tree=MeSH" title="MedGen record for Brittle cornea syndrome 2">Brittle cornea syndrome 2</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/393515" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, spondylocheirodysplastic type">Ehlers-Danlos syndrome, spondylocheirodysplastic type</a></span></li><li><span class="TLline"><a href="/medgen/1646889" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, spondylodysplastic type, 1">Ehlers-Danlos syndrome, spondylodysplastic type, 1</a></span></li><li><span class="TLline"><a href="/medgen/815540" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, spondylodysplastic type, 2">Ehlers-Danlos syndrome, spondylodysplastic type, 2</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/854083" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome type 7A">Ehlers-Danlos syndrome type 7A</a></span></li><li><span class="TLline"><a href="/medgen/342092" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome type 7B">Ehlers-Danlos syndrome type 7B</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></ul></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><ul><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></ul></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/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><ul><li><span class="TLline"><a href="/medgen/1642148" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, periodontal type 1">Ehlers-Danlos syndrome, periodontal type 1</a></span></li><li><span class="TLline"><a href="/medgen/934648" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, periodontal type 2">Ehlers-Danlos syndrome, periodontal type 2</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/541287" ref="tree=MeSH" title="MedGen record for Autosomal recessive Ehlers-Danlos syndrome, vascular type">Autosomal recessive Ehlers-Danlos syndrome, vascular type</a></span></li><li><span class="TLline"><a href="/medgen/541286" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, dominant type 4">Ehlers-Danlos syndrome, dominant type 4</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/482790" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, kyphoscoliotic type, 2">Ehlers-Danlos syndrome, kyphoscoliotic type, 2</a></span></li></ul></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/4479" ref="tree=MeSH" title="MedGen record for Eisenmenger syndrome">Eisenmenger syndrome</a></span></li><li><span class="TLline"><a href="/medgen/41766" ref="tree=MeSH" title="MedGen record for Empty sella syndrome">Empty sella syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1645412" ref="tree=MeSH" title="MedGen record for Encephalopathy due to GLUT1 deficiency">Encephalopathy due to GLUT1 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/272569" ref="tree=MeSH" title="MedGen record for Endocrine Syndrome">Endocrine Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/859792" ref="tree=MeSH" title="MedGen record for 46,XY Disorder of Androgen Action">46,XY Disorder of Androgen Action</a></span></li><li><span class="TLline"><a href="/medgen/5146" ref="tree=MeSH" title="MedGen record for Abnormal development of female secondary sexual characteristics">Abnormal development of female secondary sexual characteristics</a></span><ul><li><span class="TLline"><a href="/medgen/164081" ref="tree=MeSH" title="MedGen record for Acquired Feminization">Acquired Feminization</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></li></ul></li><li><span class="TLline"><a href="/medgen/39042" ref="tree=MeSH" title="MedGen record for Autoimmune polyendocrinopathy">Autoimmune polyendocrinopathy</a></span><ul><li><span class="TLline"><a href="/medgen/453060" ref="tree=MeSH" title="MedGen record for Autoimmune polyendocrinopathy type 3">Autoimmune polyendocrinopathy type 3</a></span></li><li><span class="TLline"><a href="/medgen/757804" ref="tree=MeSH" title="MedGen record for Autoimmune polyendocrinopathy type 4">Autoimmune polyendocrinopathy type 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/856654" ref="tree=MeSH" title="MedGen record for Contrasexual Sexual Development">Contrasexual Sexual Development</a></span><ul><li><span class="TLline"><a href="/medgen/1374839" ref="tree=MeSH" title="MedGen record for Iatrogenic Contrasexual Pubertal Development">Iatrogenic Contrasexual Pubertal Development</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3681" ref="tree=MeSH" title="MedGen record for Cushing syndrome">Cushing syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/575036" ref="tree=MeSH" title="MedGen record for ACTH-dependent Cushing syndrome">ACTH-dependent Cushing syndrome</a></span></li><li><span class="TLline"><a href="/medgen/575037" ref="tree=MeSH" title="MedGen record for ACTH-independent Cushing syndrome">ACTH-independent Cushing syndrome</a></span></li><li><span class="TLline"><a href="/medgen/923388" ref="tree=MeSH" title="MedGen record for Cushing syndrome due to macronodular adrenal hyperplasia">Cushing syndrome due to macronodular adrenal hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/1727013" ref="tree=MeSH" title="MedGen record for Endogenous Cushing syndrome">Endogenous Cushing syndrome</a></span></li><li><span class="TLline"><a href="/medgen/543520" ref="tree=MeSH" title="MedGen record for Iatrogenic Cushing disease">Iatrogenic Cushing disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/208863" ref="tree=MeSH" title="MedGen record for Ectopic hormone secretion syndrome associated with neoplasia">Ectopic hormone secretion syndrome associated with neoplasia</a></span><ul><li><span class="TLline"><a href="/medgen/6191" ref="tree=MeSH" title="MedGen record for Carcinoid syndrome">Carcinoid syndrome</a></span></li><li><span class="TLline"><a href="/medgen/103" ref="tree=MeSH" title="MedGen record for Ectopic ACTH secretion syndrome">Ectopic ACTH secretion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/101082" ref="tree=MeSH" title="MedGen record for Ectopic aldosterone secretion">Ectopic aldosterone secretion</a></span></li><li><span class="TLline"><a href="/medgen/141747" ref="tree=MeSH" title="MedGen record for Ectopic calcitonin production">Ectopic calcitonin production</a></span></li><li><span class="TLline"><a href="/medgen/163683" ref="tree=MeSH" title="MedGen record for Ectopic Chorionic Gonadotropin Secretion Syndrome">Ectopic Chorionic Gonadotropin Secretion Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/101080" ref="tree=MeSH" title="MedGen record for Ectopic growth hormone secretion">Ectopic growth hormone secretion</a></span></li><li><span class="TLline"><a href="/medgen/232147" ref="tree=MeSH" title="MedGen record for Ectopic Parathormone Secretion Syndrome">Ectopic Parathormone Secretion Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/101081" ref="tree=MeSH" title="MedGen record for Ectopic prolactin secretion">Ectopic prolactin secretion</a></span></li><li><span class="TLline"><a href="/medgen/99270" ref="tree=MeSH" title="MedGen record for Ectopic renin secretion">Ectopic renin secretion</a></span></li><li><span class="TLline"><a href="/medgen/5772" ref="tree=MeSH" title="MedGen record for Inappropriate antidiuretic hormone secretion">Inappropriate antidiuretic hormone secretion</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/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/44033" ref="tree=MeSH" title="MedGen record for Klinefelter syndrome">Klinefelter syndrome</a></span></li><li><span class="TLline"><a href="/medgen/69164" ref="tree=MeSH" title="MedGen record for McCune-Albright syndrome">McCune-Albright syndrome</a></span></li><li><span class="TLline"><a href="/medgen/39692" ref="tree=MeSH" title="MedGen record for Pancreatic cholera">Pancreatic cholera</a></span></li><li><span class="TLline"><a href="/medgen/278002" ref="tree=MeSH" title="MedGen record for Primary aldosteronism">Primary aldosteronism</a></span><ul><li><span class="TLline"><a href="/medgen/892448" ref="tree=MeSH" title="MedGen record for Dexamethasone-suppressible primary hyperaldosteronism">Dexamethasone-suppressible primary hyperaldosteronism</a></span></li><li><span class="TLline"><a href="/medgen/892826" ref="tree=MeSH" title="MedGen record for Glucocortocoid-insensitive primary hyperaldosteronism">Glucocortocoid-insensitive primary hyperaldosteronism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/811410" ref="tree=MeSH" title="MedGen record for Rare insulin-resistance syndrome">Rare insulin-resistance syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/348051" ref="tree=MeSH" title="MedGen record for Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome">Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome</a></span></li><li><span class="TLline"><a href="/medgen/543499" ref="tree=MeSH" title="MedGen record for Acquired generalized lipodystrophy">Acquired generalized 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/945467" ref="tree=MeSH" title="MedGen record for Berardinelli-Seip congenital lipodystrophy">Berardinelli-Seip congenital lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/574967" ref="tree=MeSH" title="MedGen record for Insulin-resistance syndrome type B">Insulin-resistance syndrome type B</a></span></li><li><span class="TLline"><a href="/medgen/501111" ref="tree=MeSH" title="MedGen record for Insulin-resistant diabetes mellitus AND acanthosis nigricans">Insulin-resistant diabetes mellitus AND acanthosis nigricans</a></span></li><li><span class="TLline"><a href="/medgen/1801791" ref="tree=MeSH" title="MedGen record for Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome">Intrauterine growth restriction-short stature-early adult-onset diabetes 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/1806985" ref="tree=MeSH" title="MedGen record for Microcephalic primordial dwarfism-insulin resistance syndrome">Microcephalic primordial dwarfism-insulin resistance syndrome</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/78783" ref="tree=MeSH" title="MedGen record for Rabson-Mendenhall syndrome">Rabson-Mendenhall syndrome</a></span></li><li><span class="TLline"><a href="/medgen/929290" ref="tree=MeSH" title="MedGen record for Short fifth metacarpals-insulin resistance syndrome">Short fifth metacarpals-insulin resistance syndrome</a></span></li><li><span class="TLline"><a href="/medgen/164212" ref="tree=MeSH" title="MedGen record for SHORT syndrome">SHORT syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/394528" ref="tree=MeSH" title="MedGen record for SERKAL syndrome">SERKAL syndrome</a></span></li><li><span class="TLline"><a href="/medgen/21734" ref="tree=MeSH" title="MedGen record for Turner syndrome">Turner syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/116607" ref="tree=MeSH" title="MedGen record for Monosomy X">Monosomy X</a></span></li><li><span class="TLline"><a href="/medgen/873772" ref="tree=MeSH" title="MedGen record for Mosaic Turner syndrome">Mosaic Turner syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1842425" ref="tree=MeSH" title="MedGen record for Turner syndrome due to structural X chromosome anomalies">Turner syndrome due to structural X chromosome anomalies</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/53129" ref="tree=MeSH" title="MedGen record for Zollinger-Ellison syndrome">Zollinger-Ellison syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3088" ref="tree=MeSH" title="MedGen record for Eosinophilic granulomatosis with polyangiitis">Eosinophilic granulomatosis with polyangiitis</a></span></li><li><span class="TLline"><a href="/medgen/97986" ref="tree=MeSH" title="MedGen record for Epstein Syndrome">Epstein Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/41908" ref="tree=MeSH" title="MedGen record for Euthyroid sick syndrome">Euthyroid sick syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75773" ref="tree=MeSH" title="MedGen record for Evans syndrome">Evans syndrome</a></span></li><li><span class="TLline"><a href="/medgen/8761" ref="tree=MeSH" title="MedGen record for Facial hemiatrophy">Facial hemiatrophy</a></span></li><li><span class="TLline"><a href="/medgen/98464" ref="tree=MeSH" title="MedGen record for Familial aplasia of the vermis">Familial aplasia of the vermis</a></span><ul><li><span class="TLline"><a href="/medgen/1644883" ref="tree=MeSH" title="MedGen record for Joubert syndrome 1">Joubert syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/334114" ref="tree=MeSH" title="MedGen record for Joubert syndrome 2">Joubert syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/332931" ref="tree=MeSH" title="MedGen record for Joubert syndrome 3">Joubert syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/347545" ref="tree=MeSH" title="MedGen record for Joubert syndrome 5">Joubert syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/342805" ref="tree=MeSH" title="MedGen record for Joubert syndrome 6">Joubert syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/369401" ref="tree=MeSH" title="MedGen record for Joubert syndrome 7">Joubert syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/436772" ref="tree=MeSH" title="MedGen record for Joubert syndrome 8">Joubert syndrome 8</a></span></li><li><span class="TLline"><a href="/medgen/382940" ref="tree=MeSH" title="MedGen record for Joubert syndrome 9">Joubert syndrome 9</a></span></li><li><span class="TLline"><a href="/medgen/440688" ref="tree=MeSH" title="MedGen record for Joubert syndrome 10">Joubert syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/481661" ref="tree=MeSH" title="MedGen record for Joubert syndrome 13">Joubert syndrome 13</a></span></li><li><span class="TLline"><a href="/medgen/482396" ref="tree=MeSH" title="MedGen record for Joubert syndrome 14">Joubert syndrome 14</a></span></li><li><span class="TLline"><a href="/medgen/766178" ref="tree=MeSH" title="MedGen record for Joubert syndrome 17">Joubert syndrome 17</a></span></li><li><span class="TLline"><a href="/medgen/335526" ref="tree=MeSH" title="MedGen record for Joubert syndrome with renal defect">Joubert syndrome with renal defect</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/816229" ref="tree=MeSH" title="MedGen record for Familial episodic pain syndrome with predominantly lower limb involvement">Familial episodic pain syndrome with predominantly lower limb involvement</a></span></li><li><span class="TLline"><a href="/medgen/75681" ref="tree=MeSH" title="MedGen record for Familial hypokalemia-hypomagnesemia">Familial hypokalemia-hypomagnesemia</a></span></li><li><span class="TLline"><a href="/medgen/4653" ref="tree=MeSH" title="MedGen record for Fanconi syndrome">Fanconi syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/90966" ref="tree=MeSH" title="MedGen record for Acquired Fanconi syndrome">Acquired Fanconi syndrome</a></span></li><li><span class="TLline"><a href="/medgen/137960" ref="tree=MeSH" title="MedGen record for Adult Fanconi syndrome">Adult Fanconi syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341765" ref="tree=MeSH" title="MedGen record for Primary Fanconi syndrome">Primary Fanconi syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/272287" ref="tree=MeSH" title="MedGen record for Fat adherence syndrome of extraocular muscle">Fat adherence syndrome of extraocular muscle</a></span></li><li><span class="TLline"><a href="/medgen/96041" ref="tree=MeSH" title="MedGen record for Fechtner Syndrome">Fechtner Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/163209" ref="tree=MeSH" title="MedGen record for Feingold syndrome">Feingold syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1637716" ref="tree=MeSH" title="MedGen record for Feingold syndrome type 1">Feingold syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/482119" ref="tree=MeSH" title="MedGen record for Feingold syndrome type 2">Feingold syndrome type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/4674" ref="tree=MeSH" title="MedGen record for Felty syndrome">Felty syndrome</a></span></li><li><span class="TLline"><a href="/medgen/539169" ref="tree=MeSH" title="MedGen record for Fetal akinesia-hypokinesia sequence">Fetal akinesia-hypokinesia sequence</a></span></li><li><span class="TLline"><a href="/medgen/8820" ref="tree=MeSH" title="MedGen record for fetal alcohol syndrome">fetal alcohol syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98491" ref="tree=MeSH" title="MedGen record for Fetal aminopterin syndrome">Fetal aminopterin syndrome</a></span></li><li><span class="TLline"><a href="/medgen/799290" ref="tree=MeSH" title="MedGen record for Fetal diethylstilbestrol syndrome">Fetal diethylstilbestrol syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75569" ref="tree=MeSH" title="MedGen record for Fetal hydantoin syndrome">Fetal hydantoin syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1790199" ref="tree=MeSH" title="MedGen record for Fetal Retinoid Syndrome">Fetal Retinoid Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/65922" ref="tree=MeSH" title="MedGen record for Fetal valproate syndrome">Fetal valproate syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75570" ref="tree=MeSH" title="MedGen record for Fetal warfarin syndrome">Fetal warfarin syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1768809" ref="tree=MeSH" title="MedGen record for FG syndrome 1">FG syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/42018" ref="tree=MeSH" title="MedGen record for Fibromyalgia">Fibromyalgia</a></span><ul><li><span class="TLline"><a href="/medgen/856247" ref="tree=MeSH" title="MedGen record for Juvenile Primary Fibromyalgia Syndrome">Juvenile Primary Fibromyalgia Syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/152667" ref="tree=MeSH" title="MedGen record for Floating-Harbor syndrome">Floating-Harbor syndrome</a></span></li><li><span class="TLline"><a href="/medgen/8912" ref="tree=MeSH" title="MedGen record for Fragile X syndrome">Fragile X syndrome</a></span></li><li><span class="TLline"><a href="/medgen/333403" ref="tree=MeSH" title="MedGen record for Fragile X-associated tremor/ataxia syndrome">Fragile X-associated tremor/ataxia syndrome</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/120516" ref="tree=MeSH" title="MedGen record for Freeman-Sheldon syndrome">Freeman-Sheldon syndrome</a></span></li><li><span class="TLline"><a href="/medgen/4795" ref="tree=MeSH" title="MedGen record for Froelich syndrome">Froelich syndrome</a></span></li><li><span class="TLline"><a href="/medgen/65088" ref="tree=MeSH" title="MedGen record for Fryns syndrome">Fryns syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1375401" ref="tree=MeSH" title="MedGen record for Gabriele de Vries syndrome">Gabriele de Vries syndrome</a></span></li><li><span class="TLline"><a href="/medgen/167086" ref="tree=MeSH" title="MedGen record for Galloway-Mowat syndrome">Galloway-Mowat syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1634188" ref="tree=MeSH" title="MedGen record for Galloway-Mowat syndrome 1">Galloway-Mowat syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1627611" ref="tree=MeSH" title="MedGen record for Galloway-Mowat syndrome 3">Galloway-Mowat syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/1613511" ref="tree=MeSH" title="MedGen record for Galloway-Mowat syndrome 4">Galloway-Mowat syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/1617227" ref="tree=MeSH" title="MedGen record for Galloway-Mowat syndrome 5">Galloway-Mowat syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/1625619" ref="tree=MeSH" title="MedGen record for Galloway-Mowat syndrome 2, X-linked">Galloway-Mowat syndrome 2, X-linked</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/853789" ref="tree=MeSH" title="MedGen record for Gasping Syndrome">Gasping Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1708537" ref="tree=MeSH" title="MedGen record for Gastrointestinal defect and immunodeficiency syndrome">Gastrointestinal defect and immunodeficiency syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1806192" ref="tree=MeSH" title="MedGen record for Gastrointestinal defects and immunodeficiency syndrome 1">Gastrointestinal defects and immunodeficiency syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1811526" ref="tree=MeSH" title="MedGen record for Gastrointestinal defects and immunodeficiency syndrome 2">Gastrointestinal defects and immunodeficiency syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1674313" ref="tree=MeSH" title="MedGen record for Genitourinary syndrome of menopause">Genitourinary syndrome of menopause</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><li><span class="TLline"><a href="/medgen/82889" ref="tree=MeSH" title="MedGen record for Glucocorticoid deficiency with achalasia">Glucocorticoid deficiency with achalasia</a></span></li><li><span class="TLline"><a href="/medgen/82900" ref="tree=MeSH" title="MedGen record for Gray platelet syndrome">Gray platelet syndrome</a></span></li><li><span class="TLline"><a href="/medgen/542648" ref="tree=MeSH" title="MedGen record for Gray syndrome from chloramphenicol administration in newborn">Gray syndrome from chloramphenicol administration in newborn</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/357030" ref="tree=MeSH" title="MedGen record for Griscelli syndrome type 2">Griscelli syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/1384226" ref="tree=MeSH" title="MedGen record for Growth hormone insensitivity syndrome">Growth hormone insensitivity syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/338622" ref="tree=MeSH" title="MedGen record for Growth delay due to insulin-like growth factor I resistance">Growth delay due to insulin-like growth factor I resistance</a></span></li><li><span class="TLline"><a href="/medgen/373337" ref="tree=MeSH" title="MedGen record for Growth delay due to insulin-like growth factor type 1 deficiency">Growth delay due to insulin-like growth factor type 1 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1734133" ref="tree=MeSH" title="MedGen record for Growth hormone insensitivity with immune dysregulation 1, autosomal recessive">Growth hormone insensitivity with immune dysregulation 1, autosomal recessive</a></span></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/346958" ref="tree=MeSH" title="MedGen record for Short stature due to partial GHR deficiency">Short stature due to partial GHR deficiency</a></span></li><li><span class="TLline"><a href="/medgen/859716" ref="tree=MeSH" title="MedGen record for Short stature due to primary acid-labile subunit deficiency">Short stature due to primary acid-labile subunit deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1385464" ref="tree=MeSH" title="MedGen record for STAT5B Deficiency">STAT5B Deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5399" ref="tree=MeSH" title="MedGen record for Guillain-Barre syndrome">Guillain-Barre syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1648220" ref="tree=MeSH" title="MedGen record for Acute inflammatory demyelinating polyradiculoneuropathy">Acute inflammatory demyelinating polyradiculoneuropathy</a></span></li><li><span class="TLline"><a href="/medgen/859705" ref="tree=MeSH" title="MedGen record for Acute motor and sensory axonal neuropathy">Acute motor and sensory axonal neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/855842" ref="tree=MeSH" title="MedGen record for Acute motor axonal neuropathy">Acute motor axonal neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/95994" ref="tree=MeSH" title="MedGen record for Miller Fisher syndrome">Miller Fisher syndrome</a></span></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/107497" ref="tree=MeSH" title="MedGen record for Hand-foot syndrome">Hand-foot syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/163110" ref="tree=MeSH" title="MedGen record for Hand-foot syndrome in sickle cell anemia">Hand-foot syndrome in sickle cell anemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66205" ref="tree=MeSH" title="MedGen record for Hantavirus pulmonary syndrome">Hantavirus pulmonary syndrome</a></span></li><li><span class="TLline"><a href="/medgen/58162" ref="tree=MeSH" title="MedGen record for HELLP syndrome">HELLP syndrome</a></span></li><li><span class="TLline"><a href="/medgen/854411" ref="tree=MeSH" title="MedGen record for Hemophagocytic syndrome">Hemophagocytic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/6158" ref="tree=MeSH" title="MedGen record for Hemophagocytic lymphohistiocytosis">Hemophagocytic lymphohistiocytosis</a></span><ul><li><span class="TLline"><a href="/medgen/78797" ref="tree=MeSH" title="MedGen record for Familial hemophagocytic lymphohistiocytosis">Familial hemophagocytic lymphohistiocytosis</a></span></li><li><span class="TLline"><a href="/medgen/1661552" ref="tree=MeSH" title="MedGen record for Recurrent Hemophagocytic Lymphohistiocytosis">Recurrent Hemophagocytic Lymphohistiocytosis</a></span></li><li><span class="TLline"><a href="/medgen/1659150" ref="tree=MeSH" title="MedGen record for Refractory Hemophagocytic Lymphohistiocytosis">Refractory Hemophagocytic Lymphohistiocytosis</a></span></li><li><span class="TLline"><a href="/medgen/883550" ref="tree=MeSH" title="MedGen record for Secondary hemophagocytic lymphohistiocytosis">Secondary hemophagocytic lymphohistiocytosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1692156" ref="tree=MeSH" title="MedGen record for Virus-Related Hemophagocytic Lymphohistiocytosis">Virus-Related Hemophagocytic Lymphohistiocytosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/9224" ref="tree=MeSH" title="MedGen record for Hepatorenal syndrome">Hepatorenal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75588" ref="tree=MeSH" title="MedGen record for Hereditary benign intraepithelial dyskeratosis">Hereditary benign intraepithelial dyskeratosis</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/768728" ref="tree=MeSH" title="MedGen record for Heterotaxy syndrome with asplenia">Heterotaxy syndrome with asplenia</a></span></li><li><span class="TLline"><a href="/medgen/138" ref="tree=MeSH" title="MedGen record for Holmes-Adie syndrome">Holmes-Adie syndrome</a></span></li><li><span class="TLline"><a href="/medgen/38214" ref="tree=MeSH" title="MedGen record for Holoprosencephaly sequence">Holoprosencephaly sequence</a></span><ul><li><span class="TLline"><a href="/medgen/78541" ref="tree=MeSH" title="MedGen record for Agnathia-otocephaly complex">Agnathia-otocephaly complex</a></span></li><li><span class="TLline"><a href="/medgen/140909" ref="tree=MeSH" title="MedGen record for Alobar holoprosencephaly">Alobar holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/382704" ref="tree=MeSH" title="MedGen record for Chromosome 1q41-q42 deletion syndrome">Chromosome 1q41-q42 deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/452352" ref="tree=MeSH" title="MedGen record for Ethmocephaly">Ethmocephaly</a></span></li><li><span class="TLline"><a href="/medgen/335111" ref="tree=MeSH" title="MedGen record for Hartsfield-Bixler-Demyer syndrome">Hartsfield-Bixler-Demyer syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78617" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 1">Holoprosencephaly 1</a></span></li><li><span class="TLline"><a href="/medgen/322517" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 2">Holoprosencephaly 2</a></span></li><li><span class="TLline"><a href="/medgen/327125" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 3">Holoprosencephaly 3</a></span></li><li><span class="TLline"><a href="/medgen/374488" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 4">Holoprosencephaly 4</a></span></li><li><span class="TLline"><a href="/medgen/355304" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 5">Holoprosencephaly 5</a></span></li><li><span class="TLline"><a href="/medgen/342979" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 6">Holoprosencephaly 6</a></span></li><li><span class="TLline"><a href="/medgen/372134" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 7">Holoprosencephaly 7</a></span></li><li><span class="TLline"><a href="/medgen/322873" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 8">Holoprosencephaly 8</a></span></li><li><span class="TLline"><a href="/medgen/324369" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 9">Holoprosencephaly 9</a></span></li><li><span class="TLline"><a href="/medgen/441620" ref="tree=MeSH" title="MedGen record for Holoprosencephaly caudal dysgenesis">Holoprosencephaly caudal dysgenesis</a></span></li><li><span class="TLline"><a href="/medgen/441187" ref="tree=MeSH" title="MedGen record for Holoprosencephaly deletion 2p">Holoprosencephaly deletion 2p</a></span></li><li><span class="TLline"><a href="/medgen/441188" ref="tree=MeSH" title="MedGen record for Holoprosencephaly ectrodactyly cleft lip palate">Holoprosencephaly ectrodactyly cleft lip palate</a></span></li><li><span class="TLline"><a href="/medgen/441189" ref="tree=MeSH" title="MedGen record for Holoprosencephaly radial heart renal anomalies">Holoprosencephaly radial heart renal anomalies</a></span></li><li><span class="TLline"><a href="/medgen/343987" ref="tree=MeSH" title="MedGen record for Holoprosencephaly, recurrent infections, and monocytosis">Holoprosencephaly, recurrent infections, and monocytosis</a></span></li><li><span class="TLline"><a href="/medgen/330464" ref="tree=MeSH" title="MedGen record for Holoprosencephaly-craniosynostosis syndrome">Holoprosencephaly-craniosynostosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/336097" ref="tree=MeSH" title="MedGen record for Holoprosencephaly-hypokinesia-congenital contractures syndrome">Holoprosencephaly-hypokinesia-congenital contractures syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340382" ref="tree=MeSH" title="MedGen record for Holoprosencephaly-postaxial polydactyly syndrome">Holoprosencephaly-postaxial polydactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/343380" ref="tree=MeSH" title="MedGen record for Lambotte syndrome">Lambotte syndrome</a></span></li><li><span class="TLline"><a href="/medgen/96559" ref="tree=MeSH" title="MedGen record for Lobar holoprosencephaly">Lobar holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/798407" ref="tree=MeSH" title="MedGen record for Midline interhemispheric variant of holoprosencephaly">Midline interhemispheric variant of holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/468539" ref="tree=MeSH" title="MedGen record for NODAL-Related Holoprosencephaly">NODAL-Related Holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/199694" ref="tree=MeSH" title="MedGen record for Semilobar holoprosencephaly">Semilobar holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1843386" ref="tree=MeSH" title="MedGen record for Septopreoptic holoprosencephaly">Septopreoptic holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1708682" ref="tree=MeSH" title="MedGen record for Syntelencephaly">Syntelencephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/120524" ref="tree=MeSH" title="MedGen record for Holt-Oram syndrome">Holt-Oram syndrome</a></span></li><li><span class="TLline"><a href="/medgen/39698" ref="tree=MeSH" title="MedGen record for Hurler syndrome">Hurler syndrome</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/369787" ref="tree=MeSH" title="MedGen record for Hyperandrogenism, Insulin Resistance, Acanthosis Nigricans Syndrome">Hyperandrogenism, Insulin Resistance, Acanthosis Nigricans Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/280990" ref="tree=MeSH" title="MedGen record for Hypereosinophilic syndrome">Hypereosinophilic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/61525" ref="tree=MeSH" title="MedGen record for Idiopathic hypereosinophilic syndrome">Idiopathic hypereosinophilic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1830089" ref="tree=MeSH" title="MedGen record for Primary hypereosinophilic syndrome">Primary hypereosinophilic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/46208" ref="tree=MeSH" title="MedGen record for Pulmonary eosinophilia">Pulmonary eosinophilia</a></span></li><li><span class="TLline"><a href="/medgen/1814441" ref="tree=MeSH" title="MedGen record for Secondary hypereosinophilic syndrome">Secondary hypereosinophilic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1714468" ref="tree=MeSH" title="MedGen record for Lymphocytic hypereosinophilic syndrome">Lymphocytic hypereosinophilic syndrome</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/82815" ref="tree=MeSH" title="MedGen record for Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome">Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome</a></span></li><li><span class="TLline"><a href="/medgen/374443" ref="tree=MeSH" title="MedGen record for Hypoparathyroidism, deafness, renal disease syndrome">Hypoparathyroidism, deafness, renal disease syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340984" ref="tree=MeSH" title="MedGen record for Hypoparathyroidism-retardation-dysmorphism syndrome">Hypoparathyroidism-retardation-dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/57746" ref="tree=MeSH" title="MedGen record for Hypoplastic left heart syndrome">Hypoplastic left heart syndrome</a></span></li><li><span class="TLline"><a href="/medgen/83376" ref="tree=MeSH" title="MedGen record for Hypoplastic right heart syndrome">Hypoplastic right heart syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/336377" ref="tree=MeSH" title="MedGen record for Isolated right ventricular hypoplasia">Isolated right ventricular hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/87491" ref="tree=MeSH" title="MedGen record for Pulmonary atresia with intact ventricular septum">Pulmonary atresia with intact ventricular septum</a></span></li></ul></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><li><span class="TLline"><a href="/medgen/1719763" ref="tree=MeSH" title="MedGen record for IDH Inhibitor Associated Differentiation Syndrome">IDH Inhibitor Associated Differentiation Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/337364" ref="tree=MeSH" title="MedGen record for IMAGe syndrome">IMAGe syndrome</a></span></li><li><span class="TLline"><a href="/medgen/902790" ref="tree=MeSH" title="MedGen record for Immune Reconstitution Inflammatory Syndrome Associated with Kaposi Sarcoma">Immune Reconstitution Inflammatory Syndrome Associated with Kaposi Sarcoma</a></span></li><li><span class="TLline"><a href="/medgen/7034" ref="tree=MeSH" title="MedGen record for Immunodeficiency">Immunodeficiency</a></span><ul><li><span class="TLline"><a href="/medgen/168" ref="tree=MeSH" title="MedGen record for Agammaglobulinemia">Agammaglobulinemia</a></span><ul><li><span class="TLline"><a href="/medgen/978173" ref="tree=MeSH" title="MedGen record for Activated PI3K-delta syndrome">Activated PI3K-delta syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1639972" ref="tree=MeSH" title="MedGen record for Isolated agammaglobulinemia">Isolated agammaglobulinemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/481620" ref="tree=MeSH" title="MedGen record for Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome">Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1641265" ref="tree=MeSH" title="MedGen record for BENTA disease">BENTA disease</a></span></li><li><span class="TLline"><a href="/medgen/384935" ref="tree=MeSH" title="MedGen record for CD40 Ligand Deficiency">CD40 Ligand Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/344444" ref="tree=MeSH" title="MedGen record for Cellular immunodeficiency">Cellular immunodeficiency</a></span><ul><li><span class="TLline"><a href="/medgen/870751" ref="tree=MeSH" title="MedGen record for Severe T-cell immunodeficiency">Severe T-cell immunodeficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1783688" ref="tree=MeSH" title="MedGen record for Combined Immunodeficiencies Associated with Syndromic Features">Combined Immunodeficiencies Associated with Syndromic Features</a></span></li><li><span class="TLline"><a href="/medgen/751396" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency">Combined immunodeficiency</a></span><ul><li><span class="TLline"><a href="/medgen/124417" ref="tree=MeSH" title="MedGen record for Reticular dysgenesis">Reticular dysgenesis</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></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/482631" ref="tree=MeSH" title="MedGen record for Wiskott-Aldrich syndrome 2">Wiskott-Aldrich syndrome 2</a></span></li></ul></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/232098" ref="tree=MeSH" title="MedGen record for Congenital Disorder of Natural Immunity">Congenital Disorder of Natural Immunity</a></span><ul><li><span class="TLline"><a href="/medgen/5377" ref="tree=MeSH" title="MedGen record for Chronic granulomatous disease">Chronic granulomatous disease</a></span></li><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/124419" ref="tree=MeSH" title="MedGen record for Leukocyte adhesion deficiency">Leukocyte adhesion deficiency</a></span></li><li><span class="TLline"><a href="/medgen/406938" ref="tree=MeSH" title="MedGen record for Neutrophil Actin Defect">Neutrophil Actin Defect</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/9320" ref="tree=MeSH" title="MedGen record for Deltaretrovirus infections">Deltaretrovirus infections</a></span><ul><li><span class="TLline"><a href="/medgen/88344" ref="tree=MeSH" title="MedGen record for Bovine Leukoses, Enzootic">Bovine Leukoses, Enzootic</a></span></li><li><span class="TLline"><a href="/medgen/42515" ref="tree=MeSH" title="MedGen record for HTLV-2 infection">HTLV-2 infection</a></span></li><li><span class="TLline"><a href="/medgen/6919" ref="tree=MeSH" title="MedGen record for Human T-lymphotropic virus 1 infectious disease">Human T-lymphotropic virus 1 infectious disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/901370" ref="tree=MeSH" title="MedGen record for DOCK2 deficiency">DOCK2 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/41679" ref="tree=MeSH" title="MedGen record for Dysgammaglobulinemia">Dysgammaglobulinemia</a></span><ul><li><span class="TLline"><a href="/medgen/57934" ref="tree=MeSH" title="MedGen record for Decreased circulating IgA concentration">Decreased circulating IgA concentration</a></span></li><li><span class="TLline"><a href="/medgen/124420" ref="tree=MeSH" title="MedGen record for Hyperimmunoglobulin M syndrome">Hyperimmunoglobulin M syndrome</a></span></li><li><span class="TLline"><a href="/medgen/56446" ref="tree=MeSH" title="MedGen record for Selective IgG subclass deficiency">Selective IgG subclass deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1648396" ref="tree=MeSH" title="MedGen record for Epidermodysplasia verruciformis, susceptibility to, 4">Epidermodysplasia verruciformis, susceptibility to, 4</a></span></li><li><span class="TLline"><a href="/medgen/5583" ref="tree=MeSH" title="MedGen record for Human immunodeficiency virus infection">Human immunodeficiency virus infection</a></span><ul><li><span class="TLline"><a href="/medgen/907696" ref="tree=MeSH" title="MedGen record for Acute Retroviral Syndrome">Acute Retroviral Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/99" ref="tree=MeSH" title="MedGen record for AIDS">AIDS</a></span></li><li><span class="TLline"><a href="/medgen/56444" ref="tree=MeSH" title="MedGen record for AIDS Associated Opportunistic Infection">AIDS Associated Opportunistic Infection</a></span></li><li><span class="TLline"><a href="/medgen/1793" ref="tree=MeSH" title="MedGen record for AIDS related complex">AIDS related complex</a></span></li><li><span class="TLline"><a href="/medgen/156263" ref="tree=MeSH" title="MedGen record for Central nervous system AIDS arteritis">Central nervous system AIDS arteritis</a></span></li><li><span class="TLline"><a href="/medgen/1791738" ref="tree=MeSH" title="MedGen record for Current HIV Infection">Current HIV Infection</a></span></li><li><span class="TLline"><a href="/medgen/177" ref="tree=MeSH" title="MedGen record for Dementia associated with AIDS">Dementia associated with AIDS</a></span></li><li><span class="TLline"><a href="/medgen/79492" ref="tree=MeSH" title="MedGen record for HIV enteropathy">HIV enteropathy</a></span></li><li><span class="TLline"><a href="/medgen/87476" ref="tree=MeSH" title="MedGen record for HIV wasting syndrome">HIV wasting syndrome</a></span></li><li><span class="TLline"><a href="/medgen/210205" ref="tree=MeSH" title="MedGen record for HIV-Associated Lipodystrophy Syndrome">HIV-Associated Lipodystrophy Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/37145" ref="tree=MeSH" title="MedGen record for HIV-associated nephropathy">HIV-associated nephropathy</a></span></li><li><span class="TLline"><a href="/medgen/1649755" ref="tree=MeSH" title="MedGen record for Treatment-sensitive HIV Infection">Treatment-sensitive HIV Infection</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/101091" ref="tree=MeSH" title="MedGen record for Humoral immune defect">Humoral immune defect</a></span><ul><li><span class="TLline"><a href="/medgen/88568" ref="tree=MeSH" title="MedGen record for Hypogammaglobulinemia">Hypogammaglobulinemia</a></span></li><li><span class="TLline"><a href="/medgen/98309" ref="tree=MeSH" title="MedGen record for Immunoglobulin heavy chain deficiency">Immunoglobulin heavy chain deficiency</a></span></li><li><span class="TLline"><a href="/medgen/235584" ref="tree=MeSH" title="MedGen record for Selective immunoglobulin deficiency disease">Selective immunoglobulin deficiency disease</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/1616160" ref="tree=MeSH" title="MedGen record for Humoral immunodeficiency">Humoral immunodeficiency</a></span></li><li><span class="TLline"><a href="/medgen/926467" ref="tree=MeSH" title="MedGen record for Hypomorphic RAG1 Deficiency">Hypomorphic RAG1 Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/926459" ref="tree=MeSH" title="MedGen record for IFN-gamma receptor 1 deficiency">IFN-gamma receptor 1 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1786515" ref="tree=MeSH" title="MedGen record for Immunodeficiencies Affecting Cellular and Humoral Immunity - Combined Immune Deficiency">Immunodeficiencies Affecting Cellular and Humoral Immunity - Combined Immune Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1780796" ref="tree=MeSH" title="MedGen record for Immunodeficiencies Affecting Cellular and Humoral Immunity - Severe Combined Immune Deficiency">Immunodeficiencies Affecting Cellular and Humoral Immunity - Severe Combined Immune Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1627819" ref="tree=MeSH" title="MedGen record for Immunodeficiency 11b with atopic dermatitis">Immunodeficiency 11b with atopic dermatitis</a></span></li><li><span class="TLline"><a href="/medgen/811535" ref="tree=MeSH" title="MedGen record for Immunodeficiency 14">Immunodeficiency 14</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/860386" ref="tree=MeSH" title="MedGen record for Immunodeficiency 27A">Immunodeficiency 27A</a></span></li><li><span class="TLline"><a href="/medgen/862384" ref="tree=MeSH" title="MedGen record for Immunodeficiency 28">Immunodeficiency 28</a></span></li><li><span class="TLline"><a href="/medgen/863371" ref="tree=MeSH" title="MedGen record for Immunodeficiency 36">Immunodeficiency 36</a></span></li><li><span class="TLline"><a href="/medgen/1780510" ref="tree=MeSH" title="MedGen record for Immunodeficiency due to Functional Defects">Immunodeficiency due to Functional Defects</a></span></li><li><span class="TLline"><a href="/medgen/1781353" ref="tree=MeSH" title="MedGen record for Immunodeficiency due to Quantitative Defects">Immunodeficiency due to Quantitative Defects</a></span></li><li><span class="TLline"><a href="/medgen/926446" ref="tree=MeSH" title="MedGen record for Immunodeficiency of Unknown Origin">Immunodeficiency of Unknown Origin</a></span></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/2685" ref="tree=MeSH" title="MedGen record for Bloom syndrome">Bloom syndrome</a></span></li><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></li><li><span class="TLline"><a href="/medgen/854488" ref="tree=MeSH" title="MedGen record for Hyper-IgE syndrome">Hyper-IgE syndrome</a></span></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></ul></li><li><span class="TLline"><a href="/medgen/1785891" ref="tree=MeSH" title="MedGen record for Interferon Regulatory Factor 8 Deficiency">Interferon Regulatory Factor 8 Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/7418" ref="tree=MeSH" title="MedGen record for Lymphopenia">Lymphopenia</a></span><ul><li><span class="TLline"><a href="/medgen/64647" ref="tree=MeSH" title="MedGen record for Idiopathic CD4-positive T-lymphocytopenia">Idiopathic CD4-positive T-lymphocytopenia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/924384" ref="tree=MeSH" title="MedGen record for Lymphoproliferative Syndrome 1">Lymphoproliferative Syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/862386" ref="tree=MeSH" title="MedGen record for Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency">Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency</a></span></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/5130" ref="tree=MeSH" title="MedGen record for Myalgic encephalomeyelitis/chronic fatigue syndrome">Myalgic encephalomeyelitis/chronic fatigue syndrome</a></span></li><li><span class="TLline"><a href="/medgen/925941" ref="tree=MeSH" title="MedGen record for Perforin Deficiency">Perforin Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/14713" ref="tree=MeSH" title="MedGen record for Phagocyte bactericidal dysfunction">Phagocyte bactericidal dysfunction</a></span></li><li><span class="TLline"><a href="/medgen/1778857" ref="tree=MeSH" title="MedGen record for Predominantly Antibody Deficiencies">Predominantly Antibody Deficiencies</a></span></li><li><span class="TLline"><a href="/medgen/351256" ref="tree=MeSH" title="MedGen record for Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency">Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency</a></span></li><li><span class="TLline"><a href="/medgen/82898" ref="tree=MeSH" title="MedGen record for Reduced circulating complement concentration">Reduced circulating complement concentration</a></span><ul><li><span class="TLline"><a href="/medgen/462252" ref="tree=MeSH" title="MedGen record for C1Q deficiency">C1Q deficiency</a></span></li><li><span class="TLline"><a href="/medgen/231467" ref="tree=MeSH" title="MedGen record for C3 deficiency">C3 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/859438" ref="tree=MeSH" title="MedGen record for C4 Deficiency">C4 Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/461625" ref="tree=MeSH" title="MedGen record for Complement component 2 deficiency">Complement component 2 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/462421" ref="tree=MeSH" title="MedGen record for Complement component 3 deficiency">Complement component 3 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/91003" ref="tree=MeSH" title="MedGen record for Complement component 5 deficiency">Complement component 5 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/461624" ref="tree=MeSH" title="MedGen record for Complement component C1r/C1s deficiency">Complement component C1r/C1s deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1841603" ref="tree=MeSH" title="MedGen record for Decreased circulating C1q concentration">Decreased circulating C1q concentration</a></span></li><li><span class="TLline"><a href="/medgen/332469" ref="tree=MeSH" title="MedGen record for Decreased circulating complement C3 concentration">Decreased circulating complement C3 concentration</a></span></li><li><span class="TLline"><a href="/medgen/893114" ref="tree=MeSH" title="MedGen record for Decreased circulating complement C4 concentration">Decreased circulating complement C4 concentration</a></span></li><li><span class="TLline"><a href="/medgen/1864332" ref="tree=MeSH" title="MedGen record for Decreased circulating complement component 1s concentration">Decreased circulating complement component 1s concentration</a></span></li><li><span class="TLline"><a href="/medgen/867275" ref="tree=MeSH" title="MedGen record for Decreased circulating complement factor B concentration">Decreased circulating complement factor B concentration</a></span></li><li><span class="TLline"><a href="/medgen/409784" ref="tree=MeSH" title="MedGen record for Decreased circulating complement factor H concentration">Decreased circulating complement factor H concentration</a></span></li><li><span class="TLline"><a href="/medgen/370868" ref="tree=MeSH" title="MedGen record for Decreased circulating complement factor I concentration">Decreased circulating complement factor I concentration</a></span></li><li><span class="TLline"><a href="/medgen/1741072" ref="tree=MeSH" title="MedGen record for Decreased circulating terminal complement component concentration">Decreased circulating terminal complement component concentration</a></span></li><li><span class="TLline"><a href="/medgen/585054" ref="tree=MeSH" title="MedGen record for Immunodeficiency due to a classical component pathway complement deficiency">Immunodeficiency due to a classical component pathway complement deficiency</a></span></li><li><span class="TLline"><a href="/medgen/585067" ref="tree=MeSH" title="MedGen record for Immunodeficiency due to a late component of complement deficiency">Immunodeficiency due to a late component of complement deficiency</a></span></li><li><span class="TLline"><a href="/medgen/462576" ref="tree=MeSH" title="MedGen record for Immunodeficiency due to ficolin3 deficiency">Immunodeficiency due to ficolin3 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/462435" ref="tree=MeSH" title="MedGen record for Immunodeficiency due to MASP-2 deficiency">Immunodeficiency due to MASP-2 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/870261" ref="tree=MeSH" title="MedGen record for Partial functional complement factor D deficiency">Partial functional complement factor D deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/862670" ref="tree=MeSH" title="MedGen record for Severe combined immunodeficiency due to LCK deficiency">Severe combined immunodeficiency due to LCK deficiency</a></span></li><li><span class="TLline"><a href="/medgen/925792" ref="tree=MeSH" title="MedGen record for STXBP2 Deficiency">STXBP2 Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/226894" ref="tree=MeSH" title="MedGen record for T-cell immunodeficiency">T-cell immunodeficiency</a></span><ul><li><span class="TLline"><a href="/medgen/232099" ref="tree=MeSH" title="MedGen record for Congenital T-cell immunodeficiency">Congenital T-cell immunodeficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/925674" ref="tree=MeSH" title="MedGen record for TERC Deficiency">TERC Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/925673" ref="tree=MeSH" title="MedGen record for TERT Deficiency">TERT Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/925612" ref="tree=MeSH" title="MedGen record for UNC13D Deficiency">UNC13D Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/477076" ref="tree=MeSH" title="MedGen record for X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia">X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia</a></span></li><li><span class="TLline"><a href="/medgen/107498" ref="tree=MeSH" title="MedGen record for X-linked lymphoproliferative syndrome">X-linked lymphoproliferative syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1770239" ref="tree=MeSH" title="MedGen record for X-linked lymphoproliferative disease due to SH2D1A deficiency">X-linked lymphoproliferative disease due to SH2D1A deficiency</a></span></li><li><span class="TLline"><a href="/medgen/336848" ref="tree=MeSH" title="MedGen record for X-linked lymphoproliferative disease due to XIAP deficiency">X-linked lymphoproliferative disease due to XIAP deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/419767" ref="tree=MeSH" title="MedGen record for ZAP70-Related Severe Combined Immunodeficiency">ZAP70-Related Severe Combined Immunodeficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/356123" ref="tree=MeSH" title="MedGen record for Infantile convulsions and choreoathetosis">Infantile convulsions and choreoathetosis</a></span></li><li><span class="TLline"><a href="/medgen/815981" ref="tree=MeSH" title="MedGen record for Infantile liver failure syndrome 2">Infantile liver failure syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/1732044" ref="tree=MeSH" title="MedGen record for Inherited Osteolysis Syndrome">Inherited Osteolysis Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/342428" ref="tree=MeSH" title="MedGen record for Multicentric osteolysis nodulosis arthropathy spectrum">Multicentric osteolysis nodulosis arthropathy spectrum</a></span><ul><li><span class="TLline"><a href="/medgen/1002739" ref="tree=MeSH" title="MedGen record for Multicentric osteolysis, nodulosis, and arthropathy">Multicentric osteolysis, nodulosis, and arthropathy</a></span></li><li><span class="TLline"><a href="/medgen/98152" ref="tree=MeSH" title="MedGen record for Winchester syndrome">Winchester syndrome</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/473009" ref="tree=MeSH" title="MedGen record for Inspissated bile syndrome">Inspissated bile syndrome</a></span></li><li><span class="TLline"><a href="/medgen/858342" ref="tree=MeSH" title="MedGen record for Insufficient Breast Milk Syndrome">Insufficient Breast Milk Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1376386" ref="tree=MeSH" title="MedGen record for Insulin Receptor Mutation - Associated Insulin Resistance Syndromes">Insulin Receptor Mutation - Associated Insulin Resistance Syndromes</a></span></li><li><span class="TLline"><a href="/medgen/83339" ref="tree=MeSH" title="MedGen record for Insulin-dependent diabetes mellitus secretory diarrhea syndrome">Insulin-dependent diabetes mellitus secretory diarrhea syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1792310" ref="tree=MeSH" title="MedGen record for Intermediate epidermolysis bullosa simplex with cardiomyopathy">Intermediate epidermolysis bullosa simplex with cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/577190" ref="tree=MeSH" title="MedGen record for Intestinal polyposis syndrome">Intestinal polyposis 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/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/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/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/1672870" ref="tree=MeSH" title="MedGen record for Hereditary mixed polyposis syndrome">Hereditary mixed polyposis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1645454" ref="tree=MeSH" title="MedGen record for Hyperplastic polyposis syndrome">Hyperplastic polyposis syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/474430" ref="tree=MeSH" title="MedGen record for Colon serrated polyposis">Colon serrated polyposis</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/18404" ref="tree=MeSH" title="MedGen record for Peutz-Jeghers syndrome">Peutz-Jeghers syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/242751" ref="tree=MeSH" title="MedGen record for Iridocorneal endothelial syndrome">Iridocorneal endothelial syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/107777" ref="tree=MeSH" title="MedGen record for Chandler syndrome">Chandler syndrome</a></span></li><li><span class="TLline"><a href="/medgen/543177" ref="tree=MeSH" title="MedGen record for Essential iris atrophy">Essential iris atrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5897" ref="tree=MeSH" title="MedGen record for Irritable bowel syndrome">Irritable bowel syndrome</a></span></li><li><span class="TLline"><a href="/medgen/19310" ref="tree=MeSH" title="MedGen record for Isolated Pierre-Robin syndrome">Isolated Pierre-Robin syndrome</a></span></li><li><span class="TLline"><a href="/medgen/208653" ref="tree=MeSH" title="MedGen record for Jackson-Weiss syndrome">Jackson-Weiss syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78548" ref="tree=MeSH" title="MedGen record for Jeune thoracic dystrophy">Jeune thoracic dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1648057" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 1">Asphyxiating thoracic dystrophy 1</a></span></li><li><span class="TLline"><a href="/medgen/370804" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 2">Asphyxiating thoracic dystrophy 2</a></span></li><li><span class="TLline"><a href="/medgen/19860" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 3">Asphyxiating thoracic dystrophy 3</a></span></li><li><span class="TLline"><a href="/medgen/462535" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 4">Asphyxiating thoracic dystrophy 4</a></span></li><li><span class="TLline"><a href="/medgen/482228" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 5">Asphyxiating thoracic dystrophy 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/162897" ref="tree=MeSH" title="MedGen record for Kabuki syndrome">Kabuki syndrome</a></span></li><li><span class="TLline"><a href="/medgen/9618" ref="tree=MeSH" title="MedGen record for Kearns-Sayre syndrome">Kearns-Sayre syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75560" ref="tree=MeSH" title="MedGen record for Kenny-Caffey syndrome">Kenny-Caffey syndrome</a></span></li><li><span class="TLline"><a href="/medgen/61511" ref="tree=MeSH" title="MedGen record for Kleine-Levin syndrome">Kleine-Levin syndrome</a></span></li><li><span class="TLline"><a href="/medgen/9645" ref="tree=MeSH" title="MedGen record for Klippel-Feil syndrome">Klippel-Feil syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/980916" ref="tree=MeSH" title="MedGen record for Isolated Klippel-Feil syndrome">Isolated Klippel-Feil syndrome</a></span></li><li><span class="TLline"><a href="/medgen/894399" ref="tree=MeSH" title="MedGen record for Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome">Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/396196" ref="tree=MeSH" title="MedGen record for Klippel-Feil syndrome 1, autosomal dominant">Klippel-Feil syndrome 1, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/395201" ref="tree=MeSH" title="MedGen record for Klippel-Feil syndrome 2, autosomal recessive">Klippel-Feil syndrome 2, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/462317" ref="tree=MeSH" title="MedGen record for Klippel-Feil syndrome 3, autosomal dominant">Klippel-Feil syndrome 3, autosomal dominant</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/124361" ref="tree=MeSH" title="MedGen record for Kluver-Bucy syndrome">Kluver-Bucy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/901443" ref="tree=MeSH" title="MedGen record for KSHV inflammatory cytokine syndrome">KSHV inflammatory cytokine syndrome</a></span></li><li><span class="TLline"><a href="/medgen/79465" ref="tree=MeSH" title="MedGen record for Landau-Kleffner syndrome">Landau-Kleffner syndrome</a></span></li><li><span class="TLline"><a href="/medgen/6009" ref="tree=MeSH" title="MedGen record for Langer-Giedion syndrome">Langer-Giedion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/53057" ref="tree=MeSH" title="MedGen record for Lateral medullary syndrome">Lateral medullary syndrome</a></span></li><li><span class="TLline"><a href="/medgen/44078" ref="tree=MeSH" title="MedGen record for Laurence-Moon syndrome">Laurence-Moon syndrome</a></span></li><li><span class="TLline"><a href="/medgen/866782" ref="tree=MeSH" title="MedGen record for Left ventricular noncompaction cardiomyopathy">Left ventricular noncompaction cardiomyopathy</a></span><ul><li><span class="TLline"><a href="/medgen/767410" ref="tree=MeSH" title="MedGen record for Left ventricular noncompaction 7">Left ventricular noncompaction 7</a></span></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/44114" ref="tree=MeSH" title="MedGen record for Leriche syndrome">Leriche syndrome</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/381473" ref="tree=MeSH" title="MedGen record for Lethal multiple pterygium syndrome">Lethal multiple pterygium 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/363934" ref="tree=MeSH" title="MedGen record for Lipase Hypersecretion Syndrome">Lipase Hypersecretion 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/44193" ref="tree=MeSH" title="MedGen record for Long QT syndrome">Long QT syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/327586" ref="tree=MeSH" title="MedGen record for Andersen Tawil syndrome">Andersen Tawil syndrome</a></span></li><li><span class="TLline"><a href="/medgen/685787" ref="tree=MeSH" title="MedGen record for Congenital long QT syndrome">Congenital long QT syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/5929" ref="tree=MeSH" title="MedGen record for Jervell and Lange-Nielsen syndrome">Jervell and Lange-Nielsen syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1641146" ref="tree=MeSH" title="MedGen record for Long QT syndrome 1">Long QT syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/462293" ref="tree=MeSH" title="MedGen record for Long QT syndrome 2">Long QT syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/349087" ref="tree=MeSH" title="MedGen record for Long QT syndrome 3">Long QT syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/358092" ref="tree=MeSH" title="MedGen record for Long QT syndrome 5">Long QT syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/462303" ref="tree=MeSH" title="MedGen record for Long QT syndrome 6">Long QT syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/395635" ref="tree=MeSH" title="MedGen record for Long QT syndrome 9">Long QT syndrome 9</a></span></li><li><span class="TLline"><a href="/medgen/394836" ref="tree=MeSH" title="MedGen record for Long QT syndrome 10">Long QT syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/437218" ref="tree=MeSH" title="MedGen record for Long QT syndrome 11">Long QT syndrome 11</a></span></li><li><span class="TLline"><a href="/medgen/442824" ref="tree=MeSH" title="MedGen record for Long QT syndrome 12">Long QT syndrome 12</a></span></li><li><span class="TLline"><a href="/medgen/462083" ref="tree=MeSH" title="MedGen record for Long QT syndrome 13">Long QT syndrome 13</a></span></li><li><span class="TLline"><a href="/medgen/331395" ref="tree=MeSH" title="MedGen record for Timothy syndrome">Timothy syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/864108" ref="tree=MeSH" title="MedGen record for Long QT syndrome 14">Long QT syndrome 14</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1697708" ref="tree=MeSH" title="MedGen record for Low anterior resection syndrome">Low anterior resection syndrome</a></span></li><li><span class="TLline"><a href="/medgen/44200" ref="tree=MeSH" title="MedGen record for Low T3 Syndrome">Low T3 Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/18145" ref="tree=MeSH" title="MedGen record for Lowe syndrome">Lowe syndrome</a></span></li><li><span class="TLline"><a href="/medgen/551915" ref="tree=MeSH" title="MedGen record for Lupus anticoagulant disorder">Lupus anticoagulant disorder</a></span></li><li><span class="TLline"><a href="/medgen/242753" ref="tree=MeSH" title="MedGen record for Macrophage activation syndrome">Macrophage activation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/44256" ref="tree=MeSH" title="MedGen record for Malabsorption syndrome">Malabsorption syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/83322" ref="tree=MeSH" title="MedGen record for Autoimmune enteropathy">Autoimmune enteropathy</a></span><ul><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/1842843" ref="tree=MeSH" title="MedGen record for Primary autoimmune enteropathy">Primary autoimmune enteropathy</a></span></li><li><span class="TLline"><a href="/medgen/815662" ref="tree=MeSH" title="MedGen record for TCR-alpha-beta-positive T-cell deficiency">TCR-alpha-beta-positive T-cell deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/600" ref="tree=MeSH" title="MedGen record for Blind loop syndrome">Blind loop syndrome</a></span></li><li><span class="TLline"><a href="/medgen/3291" ref="tree=MeSH" title="MedGen record for Celiac disease">Celiac disease</a></span><ul><li><span class="TLline"><a href="/medgen/395227" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 1">Celiac disease, susceptibility to, 1</a></span></li><li><span class="TLline"><a href="/medgen/347564" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 2">Celiac disease, susceptibility to, 2</a></span></li><li><span class="TLline"><a href="/medgen/347563" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 3">Celiac disease, susceptibility to, 3</a></span></li><li><span class="TLline"><a href="/medgen/346679" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 4">Celiac disease, susceptibility to, 4</a></span></li><li><span class="TLline"><a href="/medgen/337622" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 5">Celiac disease, susceptibility to, 5</a></span></li><li><span class="TLline"><a href="/medgen/369397" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 6">Celiac disease, susceptibility to, 6</a></span></li><li><span class="TLline"><a href="/medgen/394328" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 7">Celiac disease, susceptibility to, 7</a></span></li><li><span class="TLline"><a href="/medgen/394327" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 8">Celiac disease, susceptibility to, 8</a></span></li><li><span class="TLline"><a href="/medgen/393783" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 9">Celiac disease, susceptibility to, 9</a></span></li><li><span class="TLline"><a href="/medgen/394326" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 10">Celiac disease, susceptibility to, 10</a></span></li><li><span class="TLline"><a href="/medgen/393782" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 11">Celiac disease, susceptibility to, 11</a></span></li><li><span class="TLline"><a href="/medgen/436989" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 12">Celiac disease, susceptibility to, 12</a></span></li><li><span class="TLline"><a href="/medgen/383149" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 13">Celiac disease, susceptibility to, 13</a></span></li><li><span class="TLline"><a href="/medgen/137953" ref="tree=MeSH" title="MedGen record for Collagenous sprue">Collagenous sprue</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/108623" ref="tree=MeSH" title="MedGen record for Hyperhomocysteinemia">Hyperhomocysteinemia</a></span><ul><li><span class="TLline"><a href="/medgen/42485" ref="tree=MeSH" title="MedGen record for Homocystinuria">Homocystinuria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5861" ref="tree=MeSH" title="MedGen record for Intestinal Disaccharidase Deficiency and Disaccharide Malabsorption">Intestinal Disaccharidase Deficiency and Disaccharide Malabsorption</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/19966" ref="tree=MeSH" title="MedGen record for Short bowel syndrome">Short bowel syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1842747" ref="tree=MeSH" title="MedGen record for Secondary short bowel syndrome">Secondary short bowel syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/20948" ref="tree=MeSH" title="MedGen record for Steatorrhea">Steatorrhea</a></span></li><li><span class="TLline"><a href="/medgen/21300" ref="tree=MeSH" title="MedGen record for Tropical sprue">Tropical sprue</a></span></li><li><span class="TLline"><a href="/medgen/7347" ref="tree=MeSH" title="MedGen record for Whipple disease">Whipple disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/9867" ref="tree=MeSH" title="MedGen record for Malignant hyperthermia of anesthesia">Malignant hyperthermia of anesthesia</a></span></li><li><span class="TLline"><a href="/medgen/44265" ref="tree=MeSH" title="MedGen record for Mallory-Weiss syndrome">Mallory-Weiss syndrome</a></span></li><li><span class="TLline"><a href="/medgen/44287" ref="tree=MeSH" title="MedGen record for Marfan syndrome">Marfan syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/443966" ref="tree=MeSH" title="MedGen record for Loeys-Dietz Syndrome Type 2">Loeys-Dietz Syndrome Type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/526123" ref="tree=MeSH" title="MedGen record for Mauriac syndrome">Mauriac syndrome</a></span></li><li><span class="TLline"><a href="/medgen/87410" ref="tree=MeSH" title="MedGen record for May-Hegglin Anomaly">May-Hegglin Anomaly</a></span></li><li><span class="TLline"><a href="/medgen/120513" ref="tree=MeSH" title="MedGen record for Meckel-Gruber syndrome">Meckel-Gruber syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/811346" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 1">Meckel syndrome, type 1</a></span></li><li><span class="TLline"><a href="/medgen/351059" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 2">Meckel syndrome, type 2</a></span></li><li><span class="TLline"><a href="/medgen/335402" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 3">Meckel syndrome, type 3</a></span></li><li><span class="TLline"><a href="/medgen/410003" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 4">Meckel syndrome, type 4</a></span></li><li><span class="TLline"><a href="/medgen/409740" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 5">Meckel syndrome, type 5</a></span></li><li><span class="TLline"><a href="/medgen/382942" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 6">Meckel syndrome, type 6</a></span></li><li><span class="TLline"><a href="/medgen/854220" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 8">Meckel syndrome, type 8</a></span></li><li><span class="TLline"><a href="/medgen/481785" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 9">Meckel syndrome, type 9</a></span></li><li><span class="TLline"><a href="/medgen/481666" ref="tree=MeSH" title="MedGen record for Meckel syndrome, type 10">Meckel syndrome, type 10</a></span></li><li><span class="TLline"><a href="/medgen/382217" ref="tree=MeSH" title="MedGen record for NPHP3-related Meckel-like syndrome">NPHP3-related Meckel-like syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6258" ref="tree=MeSH" title="MedGen record for Meconium aspiration syndrome">Meconium aspiration syndrome</a></span></li><li><span class="TLline"><a href="/medgen/472618" ref="tree=MeSH" title="MedGen record for Meconium plug">Meconium plug</a></span></li><li><span class="TLline"><a href="/medgen/296125" ref="tree=MeSH" title="MedGen record for Megacystis, microcolon, hypoperistalsis syndrome">Megacystis, microcolon, hypoperistalsis syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/120590" ref="tree=MeSH" title="MedGen record for Hereditary hollow viscus myopathy">Hereditary hollow viscus myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/1785391" ref="tree=MeSH" title="MedGen record for Visceral myopathy 1">Visceral myopathy 1</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/56485" ref="tree=MeSH" title="MedGen record for MELAS syndrome">MELAS syndrome</a></span></li><li><span class="TLline"><a href="/medgen/6291" ref="tree=MeSH" title="MedGen record for Melkersson-Rosenthal syndrome">Melkersson-Rosenthal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82693" ref="tree=MeSH" title="MedGen record for Melnick-Fraser syndrome">Melnick-Fraser 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/9962" ref="tree=MeSH" title="MedGen record for Menopausal syndrome">Menopausal 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/78538" ref="tree=MeSH" title="MedGen record for Miller Dieker syndrome">Miller Dieker syndrome</a></span></li><li><span class="TLline"><a href="/medgen/924576" ref="tree=MeSH" title="MedGen record for MIRAGE syndrome">MIRAGE syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1672509" ref="tree=MeSH" title="MedGen record for Monoclonal mast cell activation syndrome">Monoclonal mast cell activation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/44513" ref="tree=MeSH" title="MedGen record for Morquio syndrome">Morquio syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/43375" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-IV-A">Mucopolysaccharidosis, MPS-IV-A</a></span></li><li><span class="TLline"><a href="/medgen/43376" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-IV-B">Mucopolysaccharidosis, MPS-IV-B</a></span></li></ul></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/863995" ref="tree=MeSH" title="MedGen record for Motor developmental delay due to 14q32.2 paternally expressed gene defect">Motor developmental delay due to 14q32.2 paternally expressed gene defect</a></span><ul><li><span class="TLline"><a href="/medgen/1841563" ref="tree=MeSH" title="MedGen record for Maternal uniparental disomy of chromosome 14">Maternal uniparental disomy of chromosome 14</a></span></li><li><span class="TLline"><a href="/medgen/1842839" ref="tree=MeSH" title="MedGen record for Paternal 14q32.2 hypomethylation syndrome">Paternal 14q32.2 hypomethylation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1842589" ref="tree=MeSH" title="MedGen record for Paternal 14q32.2 microdeletion syndrome">Paternal 14q32.2 microdeletion syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/341067" ref="tree=MeSH" title="MedGen record for Mowat-Wilson syndrome">Mowat-Wilson syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1842263" ref="tree=MeSH" title="MedGen record for Mowat-Wilson syndrome due to a ZEB2 point mutation">Mowat-Wilson syndrome due to a ZEB2 point mutation</a></span></li><li><span class="TLline"><a href="/medgen/1723926" ref="tree=MeSH" title="MedGen record for Mowat-Wilson syndrome due to monosomy 2q22">Mowat-Wilson syndrome due to monosomy 2q22</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/44514" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis type 6">Mucopolysaccharidosis type 6</a></span><ul><li><span class="TLline"><a href="/medgen/1842485" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis type 6, rapidly progressing">Mucopolysaccharidosis type 6, rapidly progressing</a></span></li><li><span class="TLline"><a href="/medgen/1842694" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis type 6, slowly progressing">Mucopolysaccharidosis type 6, slowly progressing</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/88566" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-I-H/S">Mucopolysaccharidosis, MPS-I-H/S</a></span></li><li><span class="TLline"><a href="/medgen/6453" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-I-S">Mucopolysaccharidosis, MPS-I-S</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><ul><li><span class="TLline"><a href="/medgen/1826165" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis type 2, attenuated form">Mucopolysaccharidosis type 2, attenuated form</a></span></li><li><span class="TLline"><a href="/medgen/575246" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis type 2, severe form">Mucopolysaccharidosis type 2, severe form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/355217" ref="tree=MeSH" title="MedGen record for Muenke syndrome">Muenke syndrome</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/1393325" ref="tree=MeSH" title="MedGen record for Mullerian-Renal-Cervical Spine Syndrome">Mullerian-Renal-Cervical Spine Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/436237" ref="tree=MeSH" title="MedGen record for Multicentric carpo-tarsal osteolysis with or without nephropathy">Multicentric carpo-tarsal osteolysis with or without nephropathy</a></span></li><li><span class="TLline"><a href="/medgen/481405" ref="tree=MeSH" title="MedGen record for Multiple congenital anomalies-hypotonia-seizures syndrome 1">Multiple congenital anomalies-hypotonia-seizures syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/6462" ref="tree=MeSH" title="MedGen record for Multiple organ dysfunction syndrome">Multiple organ dysfunction syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98276" ref="tree=MeSH" title="MedGen record for Multiple system atrophy">Multiple system atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1843304" ref="tree=MeSH" title="MedGen record for Multiple system atrophy, cerebellar type">Multiple system atrophy, cerebellar type</a></span></li><li><span class="TLline"><a href="/medgen/1842393" ref="tree=MeSH" title="MedGen record for Multiple system atrophy, parkinsonian type">Multiple system atrophy, parkinsonian type</a></span></li><li><span class="TLline"><a href="/medgen/10435" ref="tree=MeSH" title="MedGen record for Olivopontocerebellar atrophy">Olivopontocerebellar atrophy</a></span></li><li><span class="TLline"><a href="/medgen/20740" ref="tree=MeSH" title="MedGen record for Shy Drager Syndrome">Shy Drager Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/124366" ref="tree=MeSH" title="MedGen record for Striatonigral degeneration">Striatonigral degeneration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1377457" ref="tree=MeSH" title="MedGen record for Multiple Vascular Disruption Syndrome">Multiple Vascular Disruption Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1729457" ref="tree=MeSH" title="MedGen record for Multisystem inflammatory syndrome in adults">Multisystem inflammatory syndrome in adults</a></span></li><li><span class="TLline"><a href="/medgen/1713342" ref="tree=MeSH" title="MedGen record for Multisystem inflammatory syndrome in children">Multisystem inflammatory syndrome in children</a></span></li><li><span class="TLline"><a href="/medgen/344306" ref="tree=MeSH" title="MedGen record for MYH9-related disorder">MYH9-related disorder</a></span></li><li><span class="TLline"><a href="/medgen/167103" ref="tree=MeSH" title="MedGen record for Myhre syndrome">Myhre syndrome</a></span></li><li><span class="TLline"><a href="/medgen/10257" ref="tree=MeSH" title="MedGen record for Nail-patella syndrome">Nail-patella syndrome</a></span></li><li><span class="TLline"><a href="/medgen/6544" ref="tree=MeSH" title="MedGen record for Nelson Syndrome">Nelson Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/362147" ref="tree=MeSH" title="MedGen record for Neoplastic syndrome">Neoplastic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/7316" ref="tree=MeSH" title="MedGen record for Acute myeloid leukemia, M6 type">Acute myeloid leukemia, M6 type</a></span><ul><li><span class="TLline"><a href="/medgen/79015" ref="tree=MeSH" title="MedGen record for Adult Acute Erythroid Leukemia">Adult Acute Erythroid Leukemia</a></span></li><li><span class="TLline"><a href="/medgen/232341" ref="tree=MeSH" title="MedGen record for Childhood Acute Erythroid Leukemia">Childhood Acute Erythroid Leukemia</a></span></li><li><span class="TLline"><a href="/medgen/1614281" ref="tree=MeSH" title="MedGen record for Erythroleukemia">Erythroleukemia</a></span></li><li><span class="TLline"><a href="/medgen/1790819" ref="tree=MeSH" title="MedGen record for Erythroleukemia, familial, susceptibility to">Erythroleukemia, familial, susceptibility to</a></span></li><li><span class="TLline"><a href="/medgen/1626382" ref="tree=MeSH" title="MedGen record for Pure Erythroid Leukemia">Pure Erythroid Leukemia</a></span></li><li><span class="TLline"><a href="/medgen/1669222" ref="tree=MeSH" title="MedGen record for Recurrent Acute Erythroid Leukemia">Recurrent Acute Erythroid Leukemia</a></span></li></ul></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/388099" ref="tree=MeSH" title="MedGen record for Carney triad">Carney triad</a></span></li><li><span class="TLline"><a href="/medgen/307453" ref="tree=MeSH" title="MedGen record for Diffuse Leiomyomatosis Syndrome">Diffuse Leiomyomatosis Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/856083" ref="tree=MeSH" title="MedGen record for Growing teratoma syndrome">Growing teratoma syndrome</a></span></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/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/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/2562" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome">Beckwith-Wiedemann syndrome</a></span></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></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></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></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/1378836" ref="tree=MeSH" title="MedGen record for Constitutional mismatch repair deficiency syndrome">Constitutional mismatch repair deficiency syndrome</a></span></li><li><span class="TLline"><a href="/medgen/41775" ref="tree=MeSH" title="MedGen record for Enchondromatosis">Enchondromatosis</a></span></li><li><span class="TLline"><a href="/medgen/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></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></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/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/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/151793" ref="tree=MeSH" title="MedGen record for Hereditary breast ovarian cancer syndrome">Hereditary breast ovarian cancer syndrome</a></span></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></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></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></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/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></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/325450" ref="tree=MeSH" title="MedGen record for Melanoma-pancreatic cancer syndrome">Melanoma-pancreatic cancer syndrome</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></li><li><span class="TLline"><a href="/medgen/45036" ref="tree=MeSH" title="MedGen record for Multiple endocrine neoplasia">Multiple endocrine neoplasia</a></span></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></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><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/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></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></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/10819" ref="tree=MeSH" title="MedGen record for Rothmund-Thomson syndrome">Rothmund-Thomson 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/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></ul></li><li><span class="TLline"><a href="/medgen/6287" ref="tree=MeSH" title="MedGen record for Meigs syndrome">Meigs syndrome</a></span></li><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/483005" ref="tree=MeSH" title="MedGen record for Myelodysplastic syndrome">Myelodysplastic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/859692" ref="tree=MeSH" title="MedGen record for Adult Myelodysplastic Syndrome">Adult Myelodysplastic Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/389541" ref="tree=MeSH" title="MedGen record for Childhood myelodysplastic syndrome">Childhood myelodysplastic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/79122" ref="tree=MeSH" title="MedGen record for de novo Myelodysplastic Syndrome">de novo Myelodysplastic Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1826116" ref="tree=MeSH" title="MedGen record for Familial monosomy 7 syndrome">Familial monosomy 7 syndrome</a></span></li><li><span class="TLline"><a href="/medgen/196625" ref="tree=MeSH" title="MedGen record for Myelodysplastic syndrome associated with isolated del(5q)">Myelodysplastic syndrome associated with isolated del(5q)</a></span></li><li><span class="TLline"><a href="/medgen/226950" ref="tree=MeSH" title="MedGen record for Myelodysplastic Syndrome with del(5q)">Myelodysplastic Syndrome with del(5q)</a></span></li><li><span class="TLline"><a href="/medgen/8066" ref="tree=MeSH" title="MedGen record for Myelodysplastic syndrome with excess blasts">Myelodysplastic syndrome with excess blasts</a></span></li><li><span class="TLline"><a href="/medgen/208726" ref="tree=MeSH" title="MedGen record for Myelodysplastic syndrome with multilineage dysplasia">Myelodysplastic syndrome with multilineage dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/865038" ref="tree=MeSH" title="MedGen record for Myelodysplastic syndrome with ring sideroblasts">Myelodysplastic syndrome with ring sideroblasts</a></span></li><li><span class="TLline"><a href="/medgen/1716049" ref="tree=MeSH" title="MedGen record for Myelodysplastic Syndrome with Somatic Mutation">Myelodysplastic Syndrome with Somatic Mutation</a></span></li><li><span class="TLline"><a href="/medgen/692784" ref="tree=MeSH" title="MedGen record for Myelodysplastic Syndrome, Unclassifiable">Myelodysplastic Syndrome, Unclassifiable</a></span></li><li><span class="TLline"><a href="/medgen/9205" ref="tree=MeSH" title="MedGen record for Paroxysmal Hemoglobinuria">Paroxysmal Hemoglobinuria</a></span></li><li><span class="TLline"><a href="/medgen/1651993" ref="tree=MeSH" title="MedGen record for Recurrent Myelodysplastic Syndrome">Recurrent Myelodysplastic Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/286" ref="tree=MeSH" title="MedGen record for Refractory anemia">Refractory anemia</a></span></li><li><span class="TLline"><a href="/medgen/124692" ref="tree=MeSH" title="MedGen record for Refractory anemia with excess blasts in transformation">Refractory anemia with excess blasts in transformation</a></span></li><li><span class="TLline"><a href="/medgen/220394" ref="tree=MeSH" title="MedGen record for Refractory anemia with ringed sideroblasts">Refractory anemia with ringed sideroblasts</a></span></li><li><span class="TLline"><a href="/medgen/415300" ref="tree=MeSH" title="MedGen record for Refractory cytopenia with unilineage dysplasia">Refractory cytopenia with unilineage dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1656162" ref="tree=MeSH" title="MedGen record for Refractory Myelodysplastic Syndrome">Refractory Myelodysplastic Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/76156" ref="tree=MeSH" title="MedGen record for Secondary Myelodysplastic Syndrome">Secondary Myelodysplastic Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/8067" ref="tree=MeSH" title="MedGen record for Sideroblastic anemia">Sideroblastic anemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10553" ref="tree=MeSH" title="MedGen record for Pancoast syndrome">Pancoast syndrome</a></span></li><li><span class="TLline"><a href="/medgen/885398" ref="tree=MeSH" title="MedGen record for Rare Neoplastic Syndrome">Rare Neoplastic Syndrome</a></span><ul><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/350613" ref="tree=MeSH" title="MedGen record for Diaphyseal medullary stenosis-bone malignancy syndrome">Diaphyseal medullary stenosis-bone malignancy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/825667" ref="tree=MeSH" title="MedGen record for DICER1-related tumor predisposition">DICER1-related tumor predisposition</a></span></li><li><span class="TLline"><a href="/medgen/864456" ref="tree=MeSH" title="MedGen record for DNA Ligase I Deficiency">DNA Ligase I Deficiency</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/1641069" ref="tree=MeSH" title="MedGen record for Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1">Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1</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/48517" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome">Rubinstein-Taybi syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/91159" ref="tree=MeSH" title="MedGen record for Richter syndrome">Richter syndrome</a></span></li><li><span class="TLline"><a href="/medgen/52890" ref="tree=MeSH" title="MedGen record for Tumor lysis syndrome">Tumor lysis syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10308" ref="tree=MeSH" title="MedGen record for Nephrotic syndrome">Nephrotic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/502251" ref="tree=MeSH" title="MedGen record for Congenital nephrotic syndrome">Congenital nephrotic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/886873" ref="tree=MeSH" title="MedGen record for Congenital Nephrotic Syndrome - Cytomegalovirus Associated">Congenital Nephrotic Syndrome - Cytomegalovirus Associated</a></span></li><li><span class="TLline"><a href="/medgen/882036" ref="tree=MeSH" title="MedGen record for Congenital Nephrotic Syndrome - Focal Segmental Glomerulosclerosis">Congenital Nephrotic Syndrome - Focal Segmental Glomerulosclerosis</a></span></li><li><span class="TLline"><a href="/medgen/889751" ref="tree=MeSH" title="MedGen record for Congenital Nephrotic Syndrome - Infection Associated">Congenital Nephrotic Syndrome - Infection Associated</a></span></li><li><span class="TLline"><a href="/medgen/882289" ref="tree=MeSH" title="MedGen record for Congenital Nephrotic Syndrome - Rubivirus Associated">Congenital Nephrotic Syndrome - Rubivirus Associated</a></span></li><li><span class="TLline"><a href="/medgen/887382" ref="tree=MeSH" title="MedGen record for Congenital Nephrotic Syndrome - Toxoplasma Associated">Congenital Nephrotic Syndrome - Toxoplasma Associated</a></span></li><li><span class="TLline"><a href="/medgen/881678" ref="tree=MeSH" title="MedGen record for Congenital Nephrotic Syndrome - Treponema Pallidum Associated">Congenital Nephrotic Syndrome - Treponema Pallidum Associated</a></span></li><li><span class="TLline"><a href="/medgen/78698" ref="tree=MeSH" title="MedGen record for Diffuse mesangial sclerosis">Diffuse mesangial sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/373199" ref="tree=MeSH" title="MedGen record for Pierson syndrome">Pierson syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/98011" ref="tree=MeSH" title="MedGen record for Finnish congenital nephrotic syndrome">Finnish congenital nephrotic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/501252" ref="tree=MeSH" title="MedGen record for Idiopathic nephrotic syndrome">Idiopathic nephrotic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/978326" ref="tree=MeSH" title="MedGen record for Idiopathic steroid-sensitive nephrotic syndrome">Idiopathic steroid-sensitive nephrotic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1830098" ref="tree=MeSH" title="MedGen record for Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance">Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance</a></span></li><li><span class="TLline"><a href="/medgen/1781068" ref="tree=MeSH" title="MedGen record for Nephrotic syndrome, type 24">Nephrotic syndrome, type 24</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/889069" ref="tree=MeSH" title="MedGen record for Incident Nephrotic Syndrome">Incident Nephrotic Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/316454" ref="tree=MeSH" title="MedGen record for Minimal change nephrotic syndrome">Minimal change nephrotic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/868440" ref="tree=MeSH" title="MedGen record for Multidrug-resistant nephrotic syndrome">Multidrug-resistant nephrotic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/881760" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - ACTN4 Associated">Nephrotic Syndrome - ACTN4 Associated</a></span></li><li><span class="TLline"><a href="/medgen/890422" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - ADCK4 Associated">Nephrotic Syndrome - ADCK4 Associated</a></span></li><li><span class="TLline"><a href="/medgen/889979" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - ANLN Associated">Nephrotic Syndrome - ANLN Associated</a></span></li><li><span class="TLline"><a href="/medgen/890751" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - ARHGAP24 Associated">Nephrotic Syndrome - ARHGAP24 Associated</a></span></li><li><span class="TLline"><a href="/medgen/882557" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - ARHGDIA Associated">Nephrotic Syndrome - ARHGDIA Associated</a></span></li><li><span class="TLline"><a href="/medgen/884831" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - CD2AP Associated">Nephrotic Syndrome - CD2AP Associated</a></span></li><li><span class="TLline"><a href="/medgen/889445" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - CFH Associated">Nephrotic Syndrome - CFH Associated</a></span></li><li><span class="TLline"><a href="/medgen/888705" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - COQ2 Associated">Nephrotic Syndrome - COQ2 Associated</a></span></li><li><span class="TLline"><a href="/medgen/886260" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - COQ6 Associated">Nephrotic Syndrome - COQ6 Associated</a></span></li><li><span class="TLline"><a href="/medgen/886377" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - CRB2 Associated">Nephrotic Syndrome - CRB2 Associated</a></span></li><li><span class="TLline"><a href="/medgen/884687" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - CUBN Associated">Nephrotic Syndrome - CUBN Associated</a></span></li><li><span class="TLline"><a href="/medgen/884954" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - Cytomegalovirus Associated">Nephrotic Syndrome - Cytomegalovirus Associated</a></span></li><li><span class="TLline"><a href="/medgen/882145" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - DGKE Associated">Nephrotic Syndrome - DGKE Associated</a></span></li><li><span class="TLline"><a href="/medgen/889288" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - EMP2 Associated">Nephrotic Syndrome - EMP2 Associated</a></span></li><li><span class="TLline"><a href="/medgen/889958" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - Epstein-Barr Virus Associated">Nephrotic Syndrome - Epstein-Barr Virus Associated</a></span></li><li><span class="TLline"><a href="/medgen/884287" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - Frequently Relapsing">Nephrotic Syndrome - Frequently Relapsing</a></span></li><li><span class="TLline"><a href="/medgen/891152" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - Hepatitis B Virus Associated">Nephrotic Syndrome - Hepatitis B Virus Associated</a></span></li><li><span class="TLline"><a href="/medgen/881364" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - Hepatitis C Virus Associated">Nephrotic Syndrome - Hepatitis C Virus Associated</a></span></li><li><span class="TLline"><a href="/medgen/889496" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - Human Immunodeficiency Virus Associated">Nephrotic Syndrome - Human Immunodeficiency Virus Associated</a></span></li><li><span class="TLline"><a href="/medgen/885505" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - INF2 Associated">Nephrotic Syndrome - INF2 Associated</a></span></li><li><span class="TLline"><a href="/medgen/883277" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - Infection Associated">Nephrotic Syndrome - Infection Associated</a></span></li><li><span class="TLline"><a href="/medgen/926141" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - Infrequently Relapsing">Nephrotic Syndrome - Infrequently Relapsing</a></span></li><li><span class="TLline"><a href="/medgen/886072" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - ITGA3 Associated">Nephrotic Syndrome - ITGA3 Associated</a></span></li><li><span class="TLline"><a href="/medgen/887899" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - ITGB4 Associated">Nephrotic Syndrome - ITGB4 Associated</a></span></li><li><span class="TLline"><a href="/medgen/881365" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - LAMB2 Associated">Nephrotic Syndrome - LAMB2 Associated</a></span></li><li><span class="TLline"><a href="/medgen/884690" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - LMX1B Associated">Nephrotic Syndrome - LMX1B Associated</a></span></li><li><span class="TLline"><a href="/medgen/882242" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - Malaria Associated">Nephrotic Syndrome - Malaria Associated</a></span></li><li><span class="TLline"><a href="/medgen/888692" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - MEFV Associated">Nephrotic Syndrome - MEFV Associated</a></span></li><li><span class="TLline"><a href="/medgen/887391" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - MYO1E Associated">Nephrotic Syndrome - MYO1E Associated</a></span></li><li><span class="TLline"><a href="/medgen/886719" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - NEIL1 Associated">Nephrotic Syndrome - NEIL1 Associated</a></span></li><li><span class="TLline"><a href="/medgen/887779" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - NPHS2 Associated">Nephrotic Syndrome - NPHS2 Associated</a></span></li><li><span class="TLline"><a href="/medgen/881582" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - Parvovirus B19 Associated">Nephrotic Syndrome - Parvovirus B19 Associated</a></span></li><li><span class="TLline"><a href="/medgen/889415" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - PDSS2 Associated">Nephrotic Syndrome - PDSS2 Associated</a></span></li><li><span class="TLline"><a href="/medgen/888103" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - PLCE1 Associated">Nephrotic Syndrome - PLCE1 Associated</a></span></li><li><span class="TLline"><a href="/medgen/884129" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - PTPRO Associated">Nephrotic Syndrome - PTPRO Associated</a></span></li><li><span class="TLline"><a href="/medgen/885786" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - Relapse">Nephrotic Syndrome - Relapse</a></span></li><li><span class="TLline"><a href="/medgen/888614" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - SCARB2 Associated">Nephrotic Syndrome - SCARB2 Associated</a></span></li><li><span class="TLline"><a href="/medgen/887963" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - Simian Virus 40 Associated">Nephrotic Syndrome - Simian Virus 40 Associated</a></span></li><li><span class="TLline"><a href="/medgen/886169" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - SMARCAL1 Associated">Nephrotic Syndrome - SMARCAL1 Associated</a></span></li><li><span class="TLline"><a href="/medgen/889603" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - Syphilis Associated">Nephrotic Syndrome - Syphilis Associated</a></span></li><li><span class="TLline"><a href="/medgen/890824" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - Toxoplasmosis Associated">Nephrotic Syndrome - Toxoplasmosis Associated</a></span></li><li><span class="TLline"><a href="/medgen/888362" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - TRPC6 Associated">Nephrotic Syndrome - TRPC6 Associated</a></span></li><li><span class="TLline"><a href="/medgen/882198" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome - WT1 Associated">Nephrotic Syndrome - WT1 Associated</a></span></li><li><span class="TLline"><a href="/medgen/588368" ref="tree=MeSH" title="MedGen record for Nephrotic syndrome of childhood - steroid sensitive">Nephrotic syndrome of childhood - steroid sensitive</a></span><ul><li><span class="TLline"><a href="/medgen/1786384" ref="tree=MeSH" title="MedGen record for Steroid-sensitive nephrotic syndrome with frequent relapses">Steroid-sensitive nephrotic syndrome with frequent relapses</a></span></li><li><span class="TLline"><a href="/medgen/1788286" ref="tree=MeSH" title="MedGen record for Steroid-sensitive nephrotic syndrome with infrequent relapses">Steroid-sensitive nephrotic syndrome with infrequent relapses</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/163589" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome with Lesion of Endothelial Glomerulonephritis">Nephrotic Syndrome with Lesion of Endothelial Glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/167848" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome with Lesion of Focal Glomerulosclerosis">Nephrotic Syndrome with Lesion of Focal Glomerulosclerosis</a></span></li><li><span class="TLline"><a href="/medgen/209027" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome with Lesion of Hypocomplementemic Glomerulonephritis">Nephrotic Syndrome with Lesion of Hypocomplementemic Glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/102348" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome with Lesion of Membranoproliferative Glomerulonephritis">Nephrotic Syndrome with Lesion of Membranoproliferative Glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/57621" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome with Lesion of Membranous Glomerulonephritis">Nephrotic Syndrome with Lesion of Membranous Glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/167849" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome with Lesion of Persistent Glomerulonephritis">Nephrotic Syndrome with Lesion of Persistent Glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/57620" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome with Lesion of Proliferative Glomerulonephritis">Nephrotic Syndrome with Lesion of Proliferative Glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/209026" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome with Lesion of Segmental Hyalinosis">Nephrotic Syndrome with Lesion of Segmental Hyalinosis</a></span></li><li><span class="TLline"><a href="/medgen/887661" ref="tree=MeSH" title="MedGen record for Nephrotic Syndrome-Remission, Partial Remission">Nephrotic Syndrome-Remission, Partial Remission</a></span></li><li><span class="TLline"><a href="/medgen/889806" ref="tree=MeSH" title="MedGen record for Prevalent Nephrotic Syndrome">Prevalent Nephrotic Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/757877" ref="tree=MeSH" title="MedGen record for Steroid resistant nephrotic syndrome of childhood">Steroid resistant nephrotic syndrome of childhood</a></span></li><li><span class="TLline"><a href="/medgen/588370" ref="tree=MeSH" title="MedGen record for Steroid-dependent nephrotic syndrome">Steroid-dependent nephrotic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/588369" ref="tree=MeSH" title="MedGen record for Steroid-resistant nephrotic syndrome">Steroid-resistant nephrotic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/870203" ref="tree=MeSH" title="MedGen record for Transient nephrotic syndrome">Transient nephrotic syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10320" ref="tree=MeSH" title="MedGen record for Neuroleptic malignant syndrome">Neuroleptic malignant syndrome</a></span></li><li><span class="TLline"><a href="/medgen/45219" ref="tree=MeSH" title="MedGen record for OBS - Organic brain syndrome">OBS - Organic brain syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/10464" ref="tree=MeSH" title="MedGen record for Organic delusional disorder">Organic delusional disorder</a></span></li><li><span class="TLline"><a href="/medgen/45222" ref="tree=MeSH" title="MedGen record for Organic mood disorder">Organic mood disorder</a></span></li><li><span class="TLline"><a href="/medgen/18195" ref="tree=MeSH" title="MedGen record for Organic personality disorder">Organic personality disorder</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/101045" ref="tree=MeSH" title="MedGen record for Obstructive sleep apnea syndrome">Obstructive sleep apnea syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/18472" ref="tree=MeSH" title="MedGen record for Extreme obesity with alveolar hypoventilation">Extreme obesity with alveolar hypoventilation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/853512" ref="tree=MeSH" title="MedGen record for Oculo-Respiratory Syndrome">Oculo-Respiratory Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/349303" ref="tree=MeSH" title="MedGen record for Orofacial cleft 1">Orofacial cleft 1</a></span></li><li><span class="TLline"><a href="/medgen/411200" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome type 6">Orofaciodigital syndrome type 6</a></span></li><li><span class="TLline"><a href="/medgen/66357" ref="tree=MeSH" title="MedGen record for Oromandibular-limb hypogenesis spectrum">Oromandibular-limb hypogenesis spectrum</a></span></li><li><span class="TLline"><a href="/medgen/98480" ref="tree=MeSH" title="MedGen record for Osteoporosis with pseudoglioma">Osteoporosis with pseudoglioma</a></span></li><li><span class="TLline"><a href="/medgen/78542" ref="tree=MeSH" title="MedGen record for Oto-palato-digital syndrome, type I">Oto-palato-digital syndrome, type I</a></span></li><li><span class="TLline"><a href="/medgen/458929" ref="tree=MeSH" title="MedGen record for Overgrowth syndrome">Overgrowth syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1660019" ref="tree=MeSH" title="MedGen record for 11p15.4 microduplication syndrome">11p15.4 microduplication syndrome</a></span></li><li><span class="TLline"><a href="/medgen/416522" ref="tree=MeSH" title="MedGen record for CLAPO syndrome">CLAPO syndrome</a></span></li><li><span class="TLline"><a href="/medgen/823266" ref="tree=MeSH" title="MedGen record for Diabetic embryopathy">Diabetic embryopathy</a></span></li><li><span class="TLline"><a href="/medgen/1648360" ref="tree=MeSH" title="MedGen record for Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome">Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome</a></span></li><li><span class="TLline"><a href="/medgen/480014" ref="tree=MeSH" title="MedGen record for Hypoinsulinemic hypoglycemia and body hemihypertrophy">Hypoinsulinemic hypoglycemia and body hemihypertrophy</a></span></li><li><span class="TLline"><a href="/medgen/383853" ref="tree=MeSH" title="MedGen record for Isolated hemihyperplasia">Isolated hemihyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/898669" ref="tree=MeSH" title="MedGen record for Luscan-Lumish syndrome">Luscan-Lumish syndrome</a></span></li><li><span class="TLline"><a href="/medgen/766574" ref="tree=MeSH" title="MedGen record for Malan overgrowth syndrome">Malan overgrowth syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75551" ref="tree=MeSH" title="MedGen record for Marshall-Smith syndrome">Marshall-Smith syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1814470" ref="tree=MeSH" title="MedGen record for Megalencephaly-severe kyphoscoliosis-overgrowth syndrome">Megalencephaly-severe kyphoscoliosis-overgrowth syndrome</a></span></li><li><span class="TLline"><a href="/medgen/348553" ref="tree=MeSH" title="MedGen record for Neuroectodermal melanolysosomal disease">Neuroectodermal melanolysosomal disease</a></span></li><li><span class="TLline"><a href="/medgen/162909" ref="tree=MeSH" title="MedGen record for Perlman syndrome">Perlman 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><li><span class="TLline"><a href="/medgen/1387611" ref="tree=MeSH" title="MedGen record for Simpson-Golabi-Behmel syndrome">Simpson-Golabi-Behmel syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/162917" ref="tree=MeSH" title="MedGen record for Simpson-Golabi-Behmel syndrome type 1">Simpson-Golabi-Behmel syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/337527" ref="tree=MeSH" title="MedGen record for Simpson-Golabi-Behmel syndrome type 2">Simpson-Golabi-Behmel syndrome type 2</a></span></li></ul></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/862982" ref="tree=MeSH" title="MedGen record for Tatton-Brown-Rahman overgrowth syndrome">Tatton-Brown-Rahman overgrowth syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120511" ref="tree=MeSH" title="MedGen record for Weaver syndrome">Weaver syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/592755" ref="tree=MeSH" title="MedGen record for Overlap syndrome">Overlap syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/810973" ref="tree=MeSH" title="MedGen record for Scleroderma Polymyositis Overlap Syndrome">Scleroderma Polymyositis Overlap Syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/465257" ref="tree=MeSH" title="MedGen record for Pain Amplification Syndrome">Pain Amplification Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120514" ref="tree=MeSH" title="MedGen record for Pallister-Hall syndrome">Pallister-Hall syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120540" ref="tree=MeSH" title="MedGen record for Pallister-Killian syndrome">Pallister-Killian syndrome</a></span></li><li><span class="TLline"><a href="/medgen/337964" ref="tree=MeSH" title="MedGen record for Parana hard-skin syndrome">Parana hard-skin syndrome</a></span></li><li><span class="TLline"><a href="/medgen/45320" ref="tree=MeSH" title="MedGen record for Paraneoplastic syndrome">Paraneoplastic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1741776" ref="tree=MeSH" title="MedGen record for Bilateral Diffuse Uveal Melanocytic Hyperplasia">Bilateral Diffuse Uveal Melanocytic Hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/6005" ref="tree=MeSH" title="MedGen record for Eaton-Lambert syndrome">Eaton-Lambert syndrome</a></span></li><li><span class="TLline"><a href="/medgen/137895" ref="tree=MeSH" title="MedGen record for Limbic encephalitis">Limbic encephalitis</a></span></li><li><span class="TLline"><a href="/medgen/97955" ref="tree=MeSH" title="MedGen record for Opsoclonus-myoclonus syndrome">Opsoclonus-myoclonus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98273" ref="tree=MeSH" title="MedGen record for Paraneoplastic cerebellar degeneration">Paraneoplastic cerebellar degeneration</a></span></li><li><span class="TLline"><a href="/medgen/45038" ref="tree=MeSH" title="MedGen record for Paraneoplastic Endocrine Syndromes">Paraneoplastic Endocrine Syndromes</a></span></li><li><span class="TLline"><a href="/medgen/155656" ref="tree=MeSH" title="MedGen record for Paraneoplastic neurologic syndrome">Paraneoplastic neurologic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/458943" ref="tree=MeSH" title="MedGen record for Anti-NMDA receptor encephalitis">Anti-NMDA receptor encephalitis</a></span></li><li><span class="TLline"><a href="/medgen/729915" ref="tree=MeSH" title="MedGen record for Cancer-associated retinopathy">Cancer-associated retinopathy</a></span></li><li><span class="TLline"><a href="/medgen/7764" ref="tree=MeSH" title="MedGen record for Myasthenia gravis">Myasthenia gravis</a></span></li><li><span class="TLline"><a href="/medgen/1842767" ref="tree=MeSH" title="MedGen record for Paraneoplastic isolated brainstem encephalitis">Paraneoplastic isolated brainstem encephalitis</a></span></li><li><span class="TLline"><a href="/medgen/124380" ref="tree=MeSH" title="MedGen record for Paraneoplastic polyneuropathy">Paraneoplastic polyneuropathy</a></span></li><li><span class="TLline"><a href="/medgen/1842406" ref="tree=MeSH" title="MedGen record for Paraneoplastic sensory ganglionopathy">Paraneoplastic sensory ganglionopathy</a></span></li><li><span class="TLline"><a href="/medgen/6488" ref="tree=MeSH" title="MedGen record for Transverse myelitis">Transverse myelitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/234606" ref="tree=MeSH" title="MedGen record for Paraneoplastic Opsoclonus Ataxia">Paraneoplastic Opsoclonus Ataxia</a></span></li><li><span class="TLline"><a href="/medgen/465285" ref="tree=MeSH" title="MedGen record for Paraneoplastic Syndromes, Ocular">Paraneoplastic Syndromes, Ocular</a></span></li><li><span class="TLline"><a href="/medgen/226893" ref="tree=MeSH" title="MedGen record for Tumor-induced osteomalacia">Tumor-induced osteomalacia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57754" ref="tree=MeSH" title="MedGen record for Parinaud syndrome">Parinaud syndrome</a></span></li><li><span class="TLline"><a href="/medgen/413468" ref="tree=MeSH" title="MedGen record for Parkinsonism-dystonia, infantile">Parkinsonism-dystonia, infantile</a></span><ul><li><span class="TLline"><a href="/medgen/929215" ref="tree=MeSH" title="MedGen record for Brain dopamine-serotonin vesicular transport disease">Brain dopamine-serotonin vesicular transport disease</a></span></li><li><span class="TLline"><a href="/medgen/1814585" ref="tree=MeSH" title="MedGen record for Classic dopamine transporter deficiency syndrome">Classic dopamine transporter deficiency syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1808365" ref="tree=MeSH" title="MedGen record for Parkinsonism-dystonia 3, childhood-onset">Parkinsonism-dystonia 3, childhood-onset</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/87459" ref="tree=MeSH" title="MedGen record for Pearson syndrome">Pearson syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78561" ref="tree=MeSH" title="MedGen record for Penta X syndrome">Penta X syndrome</a></span></li><li><span class="TLline"><a href="/medgen/768725" ref="tree=MeSH" title="MedGen record for Perinatal Blood Aspiration Syndrome">Perinatal Blood Aspiration Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/855463" ref="tree=MeSH" title="MedGen record for Periodic fever syndrome">Periodic fever syndrome</a></span></li><li><span class="TLline"><a href="/medgen/163204" ref="tree=MeSH" title="MedGen record for Peters plus syndrome">Peters plus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162924" ref="tree=MeSH" title="MedGen record for Pettigrew syndrome">Pettigrew syndrome</a></span></li><li><span class="TLline"><a href="/medgen/909507" ref="tree=MeSH" title="MedGen record for PFAPA syndrome">PFAPA syndrome</a></span></li><li><span class="TLline"><a href="/medgen/6708" ref="tree=MeSH" title="MedGen record for Pigmentary pallidal degeneration">Pigmentary pallidal degeneration</a></span><ul><li><span class="TLline"><a href="/medgen/1800044" ref="tree=MeSH" title="MedGen record for Atypical pantothenate kinase-associated neurodegeneration">Atypical pantothenate kinase-associated neurodegeneration</a></span></li><li><span class="TLline"><a href="/medgen/1826057" ref="tree=MeSH" title="MedGen record for Classic pantothenate kinase-associated neurodegeneration">Classic pantothenate kinase-associated neurodegeneration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1790024" ref="tree=MeSH" title="MedGen record for PIK3CA related overgrowth syndrome">PIK3CA related overgrowth syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/442876" ref="tree=MeSH" title="MedGen record for CLOVES syndrome">CLOVES syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1814459" ref="tree=MeSH" title="MedGen record for Congenital infiltrating lipomatosis of the face">Congenital infiltrating lipomatosis of the face</a></span></li><li><span class="TLline"><a href="/medgen/1651269" ref="tree=MeSH" title="MedGen record for Hemihyperplasia-multiple lipomatosis syndrome">Hemihyperplasia-multiple lipomatosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/140910" ref="tree=MeSH" title="MedGen record for Hemimegalencephaly">Hemimegalencephaly</a></span></li><li><span class="TLline"><a href="/medgen/355421" ref="tree=MeSH" title="MedGen record for Megalencephaly-capillary malformation-polymicrogyria syndrome">Megalencephaly-capillary malformation-polymicrogyria syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1673986" ref="tree=MeSH" title="MedGen record for Segmental progressive overgrowth syndrome with fibroadipose hyperplasia">Segmental progressive overgrowth syndrome with fibroadipose hyperplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/141601" ref="tree=MeSH" title="MedGen record for Piriformis syndrome">Piriformis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/370910" ref="tree=MeSH" title="MedGen record for Pitt-Hopkins syndrome">Pitt-Hopkins syndrome</a></span></li><li><span class="TLline"><a href="/medgen/883774" ref="tree=MeSH" title="MedGen record for Pituitary stalk interruption syndrome">Pituitary stalk interruption syndrome</a></span></li><li><span class="TLline"><a href="/medgen/45967" ref="tree=MeSH" title="MedGen record for Plummer-Vinson syndrome">Plummer-Vinson syndrome</a></span></li><li><span class="TLline"><a href="/medgen/39276" ref="tree=MeSH" title="MedGen record for POEMS syndrome">POEMS syndrome</a></span></li><li><span class="TLline"><a href="/medgen/10822" ref="tree=MeSH" title="MedGen record for Poland anomaly">Poland anomaly</a></span></li><li><span class="TLline"><a href="/medgen/10836" ref="tree=MeSH" title="MedGen record for Polycystic ovaries">Polycystic ovaries</a></span></li><li><span class="TLline"><a href="/medgen/19393" ref="tree=MeSH" title="MedGen record for Polymyalgia rheumatica">Polymyalgia rheumatica</a></span></li><li><span class="TLline"><a href="/medgen/768727" ref="tree=MeSH" title="MedGen record for Polysplenia heterotaxy syndrome">Polysplenia heterotaxy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78543" ref="tree=MeSH" title="MedGen record for Popliteal pterygium syndrome">Popliteal pterygium syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1844082" ref="tree=MeSH" title="MedGen record for Autosomal dominant popliteal pterygium syndrome">Autosomal dominant popliteal pterygium syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1713999" ref="tree=MeSH" title="MedGen record for Post-Intensive Care Syndrome">Post-Intensive Care Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/18593" ref="tree=MeSH" title="MedGen record for Post-pericardiotomy syndrome">Post-pericardiotomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/853820" ref="tree=MeSH" title="MedGen record for Posterior Fossa Syndrome">Posterior Fossa Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/473743" ref="tree=MeSH" title="MedGen record for Posterior reversible encephalopathy syndrome">Posterior reversible encephalopathy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/226970" ref="tree=MeSH" title="MedGen record for Postural orthostatic tachycardia syndrome">Postural orthostatic tachycardia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/444010" ref="tree=MeSH" title="MedGen record for Potocki-Lupski syndrome">Potocki-Lupski syndrome</a></span></li><li><span class="TLline"><a href="/medgen/318657" ref="tree=MeSH" title="MedGen record for Potocki-Shaffer syndrome">Potocki-Shaffer syndrome</a></span></li><li><span class="TLline"><a href="/medgen/472617" ref="tree=MeSH" title="MedGen record for Potter sequence">Potter sequence</a></span></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/46059" ref="tree=MeSH" title="MedGen record for Pre-Excitation Syndrome">Pre-Excitation Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/18609" ref="tree=MeSH" title="MedGen record for Pre-Excitation, Mahaim-Type">Pre-Excitation, Mahaim-Type</a></span></li><li><span class="TLline"><a href="/medgen/12162" ref="tree=MeSH" title="MedGen record for Wolff-Parkinson-White pattern">Wolff-Parkinson-White pattern</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75668" ref="tree=MeSH" title="MedGen record for Progressive familial intrahepatic cholestasis">Progressive familial intrahepatic cholestasis</a></span><ul><li><span class="TLline"><a href="/medgen/418976" ref="tree=MeSH" title="MedGen record for Cholestasis, progressive familial intrahepatic, 4">Cholestasis, progressive familial intrahepatic, 4</a></span></li><li><span class="TLline"><a href="/medgen/934714" ref="tree=MeSH" title="MedGen record for Cholestasis, progressive familial intrahepatic, 5">Cholestasis, progressive familial intrahepatic, 5</a></span></li><li><span class="TLline"><a href="/medgen/387974" ref="tree=MeSH" title="MedGen record for Hereditary North American Indian childhood cirrhosis">Hereditary North American Indian childhood cirrhosis</a></span></li><li><span class="TLline"><a href="/medgen/1826070" ref="tree=MeSH" title="MedGen record for MYO5B-related progressive familial intrahepatic cholestasis">MYO5B-related progressive familial intrahepatic cholestasis</a></span></li><li><span class="TLline"><a href="/medgen/1645830" ref="tree=MeSH" title="MedGen record for Progressive familial intrahepatic cholestasis type 1">Progressive familial intrahepatic cholestasis type 1</a></span></li><li><span class="TLline"><a href="/medgen/483742" ref="tree=MeSH" title="MedGen record for Progressive familial intrahepatic cholestasis type 2">Progressive familial intrahepatic cholestasis type 2</a></span></li><li><span class="TLline"><a href="/medgen/356333" ref="tree=MeSH" title="MedGen record for Progressive familial intrahepatic cholestasis type 3">Progressive familial intrahepatic cholestasis type 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/60012" ref="tree=MeSH" title="MedGen record for Progressive sclerosing poliodystrophy">Progressive sclerosing poliodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/21026" ref="tree=MeSH" title="MedGen record for Progressive supranuclear palsy">Progressive supranuclear palsy</a></span><ul><li><span class="TLline"><a href="/medgen/1779597" ref="tree=MeSH" title="MedGen record for Atypical progressive supranuclear palsy syndrome">Atypical progressive supranuclear palsy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1640811" ref="tree=MeSH" title="MedGen record for Supranuclear palsy, progressive, 1">Supranuclear palsy, progressive, 1</a></span></li><li><span class="TLline"><a href="/medgen/324446" ref="tree=MeSH" title="MedGen record for Supranuclear palsy, progressive, 2">Supranuclear palsy, progressive, 2</a></span></li><li><span class="TLline"><a href="/medgen/370922" ref="tree=MeSH" title="MedGen record for Supranuclear palsy, progressive, 3">Supranuclear palsy, progressive, 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/18718" ref="tree=MeSH" title="MedGen record for Prune belly syndrome">Prune belly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/60133" ref="tree=MeSH" title="MedGen record for Pseudoexfoliation glaucoma">Pseudoexfoliation glaucoma</a></span></li><li><span class="TLline"><a href="/medgen/488447" ref="tree=MeSH" title="MedGen record for Pseudohypoparathyroidism type I A">Pseudohypoparathyroidism type I A</a></span><ul><li><span class="TLline"><a href="/medgen/10995" ref="tree=MeSH" title="MedGen record for Pseudopseudohypoparathyroidism">Pseudopseudohypoparathyroidism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/264183" ref="tree=MeSH" title="MedGen record for Pyramidal Tract Dysfunction">Pyramidal Tract Dysfunction</a></span></li><li><span class="TLline"><a href="/medgen/61235" ref="tree=MeSH" title="MedGen record for Radial aplasia-thrombocytopenia syndrome">Radial aplasia-thrombocytopenia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/311198" ref="tree=MeSH" title="MedGen record for Radiation Sickness Syndrome">Radiation Sickness Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1792298" ref="tree=MeSH" title="MedGen record for RASopathy">RASopathy</a></span><ul><li><span class="TLline"><a href="/medgen/334007" ref="tree=MeSH" title="MedGen record for Capillary malformation-arteriovenous malformation syndrome">Capillary malformation-arteriovenous malformation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/852267" ref="tree=MeSH" title="MedGen record for Cardiofaciocutaneous syndrome 1">Cardiofaciocutaneous syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1647111" ref="tree=MeSH" title="MedGen record for Fibromatosis, gingival, 1">Fibromatosis, gingival, 1</a></span></li><li><span class="TLline"><a href="/medgen/138109" ref="tree=MeSH" title="MedGen record for Juvenile myelomonocytic leukemia">Juvenile myelomonocytic leukemia</a></span></li><li><span class="TLline"><a href="/medgen/370709" ref="tree=MeSH" title="MedGen record for Legius syndrome">Legius syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98377" ref="tree=MeSH" title="MedGen record for Metachondromatosis">Metachondromatosis</a></span></li><li><span class="TLline"><a href="/medgen/18073" ref="tree=MeSH" title="MedGen record for Noonan syndrome">Noonan syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1638960" ref="tree=MeSH" title="MedGen record for Noonan syndrome 1">Noonan syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/344290" ref="tree=MeSH" title="MedGen record for Noonan syndrome 2">Noonan syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/349931" ref="tree=MeSH" title="MedGen record for Noonan syndrome 3">Noonan syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/339908" ref="tree=MeSH" title="MedGen record for Noonan syndrome 4">Noonan syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/370589" ref="tree=MeSH" title="MedGen record for Noonan syndrome 5">Noonan syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/413028" ref="tree=MeSH" title="MedGen record for Noonan syndrome 6">Noonan syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/462320" ref="tree=MeSH" title="MedGen record for Noonan syndrome 7">Noonan syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/815563" ref="tree=MeSH" title="MedGen record for Noonan syndrome 8">Noonan syndrome 8</a></span></li><li><span class="TLline"><a href="/medgen/896352" ref="tree=MeSH" title="MedGen record for Noonan syndrome 9">Noonan syndrome 9</a></span></li><li><span class="TLline"><a href="/medgen/902892" ref="tree=MeSH" title="MedGen record for Noonan syndrome 10">Noonan syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/1681177" ref="tree=MeSH" title="MedGen record for Noonan syndrome 11">Noonan syndrome 11</a></span></li><li><span class="TLline"><a href="/medgen/1684730" ref="tree=MeSH" title="MedGen record for Noonan syndrome 12">Noonan syndrome 12</a></span></li><li><span class="TLline"><a href="/medgen/1761918" ref="tree=MeSH" title="MedGen record for Noonan syndrome 13">Noonan syndrome 13</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/104494" ref="tree=MeSH" title="MedGen record for Noonan syndrome with multiple lentigines">Noonan syndrome with multiple lentigines</a></span><ul><li><span class="TLline"><a href="/medgen/1631694" ref="tree=MeSH" title="MedGen record for LEOPARD syndrome 1">LEOPARD syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/370588" ref="tree=MeSH" title="MedGen record for LEOPARD syndrome 2">LEOPARD syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/462321" ref="tree=MeSH" title="MedGen record for LEOPARD syndrome 3">LEOPARD syndrome 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/334697" ref="tree=MeSH" title="MedGen record for Noonan syndrome-like disorder with loose anagen hair">Noonan syndrome-like disorder with loose anagen hair</a></span><ul><li><span class="TLline"><a href="/medgen/1379805" ref="tree=MeSH" title="MedGen record for Noonan syndrome-like disorder with loose anagen hair 1">Noonan syndrome-like disorder with loose anagen hair 1</a></span></li><li><span class="TLline"><a href="/medgen/1376945" ref="tree=MeSH" title="MedGen record for Noonan syndrome-like disorder with loose anagen hair 2">Noonan syndrome-like disorder with loose anagen hair 2</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/11170" ref="tree=MeSH" title="MedGen record for Reactive arthritis triad">Reactive arthritis triad</a></span></li><li><span class="TLline"><a href="/medgen/727160" ref="tree=MeSH" title="MedGen record for Red Man Syndrome">Red Man Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/339002" ref="tree=MeSH" title="MedGen record for Renal coloboma syndrome">Renal coloboma syndrome</a></span></li><li><span class="TLline"><a href="/medgen/96569" ref="tree=MeSH" title="MedGen record for Renal cysts and diabetes syndrome">Renal cysts and diabetes syndrome</a></span></li><li><span class="TLline"><a href="/medgen/96045" ref="tree=MeSH" title="MedGen record for Renal dysplasia and retinal aplasia">Renal dysplasia and retinal aplasia</a></span><ul><li><span class="TLline"><a href="/medgen/1639722" ref="tree=MeSH" title="MedGen record for Senior-Loken syndrome 1">Senior-Loken syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/335569" ref="tree=MeSH" title="MedGen record for Senior-loken syndrome 3">Senior-loken syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/337697" ref="tree=MeSH" title="MedGen record for Senior-Loken syndrome 4">Senior-Loken syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/332226" ref="tree=MeSH" title="MedGen record for Senior-Loken syndrome 5">Senior-Loken syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/387907" ref="tree=MeSH" title="MedGen record for Senior-Loken syndrome 6">Senior-Loken syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/462227" ref="tree=MeSH" title="MedGen record for Senior-Loken syndrome 7">Senior-Loken syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/905171" ref="tree=MeSH" title="MedGen record for Senior-Loken syndrome 8">Senior-Loken syndrome 8</a></span></li><li><span class="TLline"><a href="/medgen/899086" ref="tree=MeSH" title="MedGen record for Senior-Loken syndrome 9">Senior-Loken syndrome 9</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/208670" ref="tree=MeSH" title="MedGen record for Renpenning syndrome">Renpenning syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1842506" ref="tree=MeSH" title="MedGen record for Hamel cerebro-palato-cardiac syndrome">Hamel cerebro-palato-cardiac syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1842639" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability, Golabi-Ito-hall type">X-linked intellectual disability, Golabi-Ito-hall type</a></span></li><li><span class="TLline"><a href="/medgen/1842708" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability, Porteous type">X-linked intellectual disability, Porteous type</a></span></li><li><span class="TLline"><a href="/medgen/1842836" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability, Sutherland-Haan type">X-linked intellectual disability, Sutherland-Haan type</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/48427" ref="tree=MeSH" title="MedGen record for Restless legs">Restless legs</a></span></li><li><span class="TLline"><a href="/medgen/1709950" ref="tree=MeSH" title="MedGen record for Retroperitoneal Pain Syndrome">Retroperitoneal Pain Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/48441" ref="tree=MeSH" title="MedGen record for Rett syndrome">Rett syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/462055" ref="tree=MeSH" title="MedGen record for Rett syndrome, congenital variant">Rett syndrome, congenital variant</a></span></li><li><span class="TLline"><a href="/medgen/409616" ref="tree=MeSH" title="MedGen record for Severe neonatal-onset encephalopathy with microcephaly">Severe neonatal-onset encephalopathy with microcephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/19772" ref="tree=MeSH" title="MedGen record for Reye syndrome">Reye syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78558" ref="tree=MeSH" title="MedGen record for Rieger anomaly">Rieger anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/316937" ref="tree=MeSH" title="MedGen record for Axenfeld-Rieger syndrome type 2">Axenfeld-Rieger syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/394534" ref="tree=MeSH" title="MedGen record for Axenfeld-Rieger syndrome type 3">Axenfeld-Rieger syndrome type 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1390110" ref="tree=MeSH" title="MedGen record for Ring chromosome 13 syndrome">Ring chromosome 13 syndrome</a></span></li><li><span class="TLline"><a href="/medgen/539285" ref="tree=MeSH" title="MedGen record for Ring chromosome 18">Ring chromosome 18</a></span></li><li><span class="TLline"><a href="/medgen/489853" ref="tree=MeSH" title="MedGen record for Ring chromosome 20 syndrome">Ring chromosome 20 syndrome</a></span></li><li><span class="TLline"><a href="/medgen/539299" ref="tree=MeSH" title="MedGen record for Ring chromosome 22">Ring chromosome 22</a></span></li><li><span class="TLline"><a href="/medgen/78535" ref="tree=MeSH" title="MedGen record for Robinow syndrome">Robinow syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1675001" ref="tree=MeSH" title="MedGen record for Autosomal dominant Robinow syndrome">Autosomal dominant Robinow syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1770070" ref="tree=MeSH" title="MedGen record for Autosomal recessive Robinow syndrome">Autosomal recessive Robinow syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/104492" ref="tree=MeSH" title="MedGen record for Russell-Silver syndrome">Russell-Silver syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1718472" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome 1">Silver-Russell syndrome 1</a></span><ul><li><span class="TLline"><a href="/medgen/1826102" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to an imprinting defect of 11p15">Silver-Russell syndrome due to an imprinting defect of 11p15</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1714148" ref="tree=MeSH" title="MedGen record for Silver-russell syndrome 2">Silver-russell syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/894912" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome 3">Silver-Russell syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/1712866" ref="tree=MeSH" title="MedGen record for Silver-russell syndrome 4">Silver-russell syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/1713787" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome 5">Silver-Russell syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/1826103" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to 11p15 microduplication">Silver-Russell syndrome due to 11p15 microduplication</a></span></li><li><span class="TLline"><a href="/medgen/1826059" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to 7p11.2p13 microduplication">Silver-Russell syndrome due to 7p11.2p13 microduplication</a></span></li><li><span class="TLline"><a href="/medgen/1843388" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to a point mutation">Silver-Russell syndrome due to a point mutation</a></span></li><li><span class="TLline"><a href="/medgen/1826074" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7">Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7</a></span></li><li><span class="TLline"><a href="/medgen/1843295" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11">Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/90922" ref="tree=MeSH" title="MedGen record for Sandifer syndrome">Sandifer syndrome</a></span></li><li><span class="TLline"><a href="/medgen/6452" ref="tree=MeSH" title="MedGen record for Sanfilippo syndrome">Sanfilippo syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/39264" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-III-A">Mucopolysaccharidosis, MPS-III-A</a></span></li><li><span class="TLline"><a href="/medgen/88601" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-III-B">Mucopolysaccharidosis, MPS-III-B</a></span></li><li><span class="TLline"><a href="/medgen/39477" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-III-C">Mucopolysaccharidosis, MPS-III-C</a></span></li><li><span class="TLline"><a href="/medgen/88602" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-III-D">Mucopolysaccharidosis, MPS-III-D</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/3324" ref="tree=MeSH" title="MedGen record for Schilder disease">Schilder disease</a></span></li><li><span class="TLline"><a href="/medgen/767257" ref="tree=MeSH" title="MedGen record for Schuurs-Hoeijmakers syndrome">Schuurs-Hoeijmakers syndrome</a></span></li><li><span class="TLline"><a href="/medgen/19892" ref="tree=MeSH" title="MedGen record for Schwartz-Jampel syndrome">Schwartz-Jampel syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1647990" ref="tree=MeSH" title="MedGen record for Schwartz-Jampel syndrome type 1">Schwartz-Jampel syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/167109" ref="tree=MeSH" title="MedGen record for Stuve-Wiedemann syndrome">Stuve-Wiedemann syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1805977" ref="tree=MeSH" title="MedGen record for Stuve-Wiedemann syndrome 2">Stuve-Wiedemann syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/1803541" ref="tree=MeSH" title="MedGen record for Stüve-Wiedemann syndrome 1">Stüve-Wiedemann syndrome 1</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/20675" ref="tree=MeSH" title="MedGen record for Scimitar syndrome">Scimitar syndrome</a></span></li><li><span class="TLline"><a href="/medgen/19908" ref="tree=MeSH" title="MedGen record for Sea-blue histiocyte syndrome">Sea-blue histiocyte syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78534" ref="tree=MeSH" title="MedGen record for Seckel syndrome">Seckel syndrome</a></span></li><li><span class="TLline"><a href="/medgen/443521" ref="tree=MeSH" title="MedGen record for Selective Antibody Deficiency with Normal Immunoglobulins">Selective Antibody Deficiency with Normal Immunoglobulins</a></span></li><li><span class="TLline"><a href="/medgen/90926" ref="tree=MeSH" title="MedGen record for Septo-optic dysplasia sequence">Septo-optic dysplasia sequence</a></span></li><li><span class="TLline"><a href="/medgen/148243" ref="tree=MeSH" title="MedGen record for Severe myoclonic epilepsy in infancy">Severe myoclonic epilepsy in infancy</a></span></li><li><span class="TLline"><a href="/medgen/116569" ref="tree=MeSH" title="MedGen record for Sheehan syndrome">Sheehan syndrome</a></span></li><li><span class="TLline"><a href="/medgen/501135" ref="tree=MeSH" title="MedGen record for Shone complex">Shone complex</a></span></li><li><span class="TLline"><a href="/medgen/11412" ref="tree=MeSH" title="MedGen record for Short rib-polydactyly syndrome">Short rib-polydactyly syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1371401" ref="tree=MeSH" title="MedGen record for Joubert syndrome with Jeune asphyxiating thoracic dystrophy">Joubert syndrome with Jeune asphyxiating thoracic dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/988414" ref="tree=MeSH" title="MedGen record for Short rib-polydactyly syndrome, Majewski type">Short rib-polydactyly syndrome, Majewski type</a></span><ul><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></ul></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><li><span class="TLline"><a href="/medgen/231160" ref="tree=MeSH" title="MedGen record for Shprintzen-Goldberg syndrome">Shprintzen-Goldberg syndrome</a></span></li><li><span class="TLline"><a href="/medgen/39529" ref="tree=MeSH" title="MedGen record for Sicca syndrome">Sicca syndrome</a></span></li><li><span class="TLline"><a href="/medgen/20749" ref="tree=MeSH" title="MedGen record for Sick sinus syndrome">Sick sinus syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/573766" ref="tree=MeSH" title="MedGen record for Familial sick sinus syndrome">Familial sick sinus syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/325270" ref="tree=MeSH" title="MedGen record for Sick sinus syndrome 1">Sick sinus syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/320273" ref="tree=MeSH" title="MedGen record for Sick sinus syndrome 2, autosomal dominant">Sick sinus syndrome 2, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/481421" ref="tree=MeSH" title="MedGen record for Sick sinus syndrome 3, susceptibility to">Sick sinus syndrome 3, susceptibility to</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/66083" ref="tree=MeSH" title="MedGen record for Simple pulmonary eosinophilia">Simple pulmonary eosinophilia</a></span></li><li><span class="TLline"><a href="/medgen/1392220" ref="tree=MeSH" title="MedGen record for Single Central Incisor Syndrome">Single Central Incisor Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/11443" ref="tree=MeSH" title="MedGen record for Sjögren-Larsson syndrome">Sjögren-Larsson syndrome</a></span></li><li><span class="TLline"><a href="/medgen/61231" ref="tree=MeSH" title="MedGen record for Smith-Lemli-Opitz syndrome">Smith-Lemli-Opitz syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162881" ref="tree=MeSH" title="MedGen record for Smith-Magenis syndrome">Smith-Magenis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/52484" ref="tree=MeSH" title="MedGen record for Staphylococcal scalded skin syndrome">Staphylococcal scalded skin syndrome</a></span></li><li><span class="TLline"><a href="/medgen/20955" ref="tree=MeSH" title="MedGen record for Stevens-Johnson syndrome">Stevens-Johnson syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120521" ref="tree=MeSH" title="MedGen record for Stickler syndrome">Stickler syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1765197" ref="tree=MeSH" title="MedGen record for Autosomal recessive Stickler syndrome">Autosomal recessive Stickler syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341234" ref="tree=MeSH" title="MedGen record for Otospondylomegaepiphyseal dysplasia, autosomal dominant">Otospondylomegaepiphyseal dysplasia, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/810955" ref="tree=MeSH" title="MedGen record for Stickler syndrome type 1">Stickler syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/347615" ref="tree=MeSH" title="MedGen record for Stickler syndrome type 2">Stickler syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/481571" ref="tree=MeSH" title="MedGen record for Stickler syndrome, type 4">Stickler syndrome, type 4</a></span></li><li><span class="TLline"><a href="/medgen/481972" ref="tree=MeSH" title="MedGen record for Stickler syndrome, type 5">Stickler syndrome, type 5</a></span></li><li><span class="TLline"><a href="/medgen/1823980" ref="tree=MeSH" title="MedGen record for Stickler syndrome, type 6">Stickler syndrome, type 6</a></span></li><li><span class="TLline"><a href="/medgen/322820" ref="tree=MeSH" title="MedGen record for Stickler syndrome, type I, nonsyndromic ocular">Stickler syndrome, type I, nonsyndromic ocular</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/39017" ref="tree=MeSH" title="MedGen record for Stiff-man syndrome">Stiff-man syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1842410" ref="tree=MeSH" title="MedGen record for Classic stiff person syndrome">Classic stiff person syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1672496" ref="tree=MeSH" title="MedGen record for Focal stiff limb syndrome">Focal stiff limb syndrome</a></span></li><li><span class="TLline"><a href="/medgen/349287" ref="tree=MeSH" title="MedGen record for Progressive encephalomyelitis with rigidity and myoclonus">Progressive encephalomyelitis with rigidity and myoclonus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/20983" ref="tree=MeSH" title="MedGen record for Subclavian steal syndrome">Subclavian steal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/336288" ref="tree=MeSH" title="MedGen record for Subcortical band heterotopia">Subcortical band heterotopia</a></span><ul><li><span class="TLline"><a href="/medgen/1703799" ref="tree=MeSH" title="MedGen record for Anterior predominant subcortical band heterotopia">Anterior predominant subcortical band heterotopia</a></span></li><li><span class="TLline"><a href="/medgen/1689721" ref="tree=MeSH" title="MedGen record for Diffuse subcortical band heterotopia">Diffuse subcortical band heterotopia</a></span></li><li><span class="TLline"><a href="/medgen/1691332" ref="tree=MeSH" title="MedGen record for Posterior predominant subcortical band heterotopia">Posterior predominant subcortical band heterotopia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/20990" ref="tree=MeSH" title="MedGen record for Substance withdrawal syndrome">Substance withdrawal syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1398" ref="tree=MeSH" title="MedGen record for Alcohol withdrawal delirium">Alcohol withdrawal delirium</a></span></li><li><span class="TLline"><a href="/medgen/108446" ref="tree=MeSH" title="MedGen record for Alcohol-induced epilepsy">Alcohol-induced epilepsy</a></span></li><li><span class="TLline"><a href="/medgen/769756" ref="tree=MeSH" title="MedGen record for In Utero Drug Withdrawal">In Utero Drug Withdrawal</a></span></li><li><span class="TLline"><a href="/medgen/10207" ref="tree=MeSH" title="MedGen record for neonatal abstinence syndrome">neonatal abstinence syndrome</a></span></li><li><span class="TLline"><a href="/medgen/761916" ref="tree=MeSH" title="MedGen record for Neonatal Drug Withdrawal">Neonatal Drug Withdrawal</a></span></li><li><span class="TLline"><a href="/medgen/10346" ref="tree=MeSH" title="MedGen record for Nicotine withdrawal">Nicotine withdrawal</a></span></li><li><span class="TLline"><a href="/medgen/476135" ref="tree=MeSH" title="MedGen record for Opiate Withdrawal Syndrome">Opiate Withdrawal Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/476272" ref="tree=MeSH" title="MedGen record for Neonatal Opiate Withdrawal Syndrome">Neonatal Opiate Withdrawal Syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/771100" ref="tree=MeSH" title="MedGen record for Perinatal Drug Withdrawal">Perinatal Drug Withdrawal</a></span></li><li><span class="TLline"><a href="/medgen/769745" ref="tree=MeSH" title="MedGen record for Postnatal Drug Withdrawal">Postnatal Drug Withdrawal</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/224724" ref="tree=MeSH" title="MedGen record for SUNCT syndrome">SUNCT syndrome</a></span></li><li><span class="TLline"><a href="/medgen/313739" ref="tree=MeSH" title="MedGen record for Sunset Syndrome">Sunset Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/21404" ref="tree=MeSH" title="MedGen record for Superior mesenteric artery syndrome">Superior mesenteric artery syndrome</a></span></li><li><span class="TLline"><a href="/medgen/52576" ref="tree=MeSH" title="MedGen record for Superior vena cava syndrome">Superior vena cava syndrome</a></span></li><li><span class="TLline"><a href="/medgen/439270" ref="tree=MeSH" title="MedGen record for Susac syndrome">Susac syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78107" ref="tree=MeSH" title="MedGen record for Swyer James Syndrome">Swyer James Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/337496" ref="tree=MeSH" title="MedGen record for Syndromic X-linked intellectual disability Lubs type">Syndromic X-linked intellectual disability Lubs type</a></span></li><li><span class="TLline"><a href="/medgen/437845" ref="tree=MeSH" title="MedGen record for Synpolydactyly">Synpolydactyly</a></span><ul><li><span class="TLline"><a href="/medgen/1809573" ref="tree=MeSH" title="MedGen record for Synpolydactyly type 1">Synpolydactyly type 1</a></span></li><li><span class="TLline"><a href="/medgen/331290" ref="tree=MeSH" title="MedGen record for Synpolydactyly type 2">Synpolydactyly type 2</a></span></li><li><span class="TLline"><a href="/medgen/344005" ref="tree=MeSH" title="MedGen record for Synpolydactyly type 3">Synpolydactyly type 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/69303" ref="tree=MeSH" title="MedGen record for Systemic inflammatory response syndrome">Systemic inflammatory response syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/11410" ref="tree=MeSH" title="MedGen record for Septic shock">Septic shock</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/52646" ref="tree=MeSH" title="MedGen record for Tarsal tunnel syndrome">Tarsal tunnel syndrome</a></span></li><li><span class="TLline"><a href="/medgen/21474" ref="tree=MeSH" title="MedGen record for Teething syndrome">Teething syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1668986" ref="tree=MeSH" title="MedGen record for Telomere syndrome">Telomere syndrome</a></span></li><li><span class="TLline"><a href="/medgen/886502" ref="tree=MeSH" title="MedGen record for Tempi syndrome">Tempi syndrome</a></span></li><li><span class="TLline"><a href="/medgen/21093" ref="tree=MeSH" title="MedGen record for Temporomandibular joint dysfunction syndrome">Temporomandibular joint dysfunction syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347474" ref="tree=MeSH" title="MedGen record for Temtamy syndrome">Temtamy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/36387" ref="tree=MeSH" title="MedGen record for Tethered cord">Tethered cord</a></span></li><li><span class="TLline"><a href="/medgen/98490" ref="tree=MeSH" title="MedGen record for Thalidomide embryopathy">Thalidomide embryopathy</a></span></li><li><span class="TLline"><a href="/medgen/21158" ref="tree=MeSH" title="MedGen record for Thoracic outlet syndrome">Thoracic outlet syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/365116" ref="tree=MeSH" title="MedGen record for Arterial thoracic outlet syndrome">Arterial thoracic outlet syndrome</a></span></li><li><span class="TLline"><a href="/medgen/3337" ref="tree=MeSH" title="MedGen record for Arterial thoracic outlet syndrome due to cervical rib">Arterial thoracic outlet syndrome due to cervical rib</a></span></li><li><span class="TLline"><a href="/medgen/155880" ref="tree=MeSH" title="MedGen record for Neurogenic thoracic outlet syndrome">Neurogenic thoracic outlet syndrome</a></span></li><li><span class="TLline"><a href="/medgen/408326" ref="tree=MeSH" title="MedGen record for Venous thoracic outlet syndrome">Venous thoracic outlet syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/21197" ref="tree=MeSH" title="MedGen record for Tolosa-Hunt syndrome">Tolosa-Hunt syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78715" ref="tree=MeSH" title="MedGen record for TORCH syndrome">TORCH syndrome</a></span></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/75555" ref="tree=MeSH" title="MedGen record for Townes syndrome">Townes syndrome</a></span></li><li><span class="TLline"><a href="/medgen/736110" ref="tree=MeSH" title="MedGen record for Toxic anterior segment syndrome">Toxic anterior segment syndrome</a></span></li><li><span class="TLline"><a href="/medgen/109414" ref="tree=MeSH" title="MedGen record for Toxic shock syndrome">Toxic shock syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/811401" ref="tree=MeSH" title="MedGen record for Staphylococcal toxic-shock syndrome">Staphylococcal toxic-shock syndrome</a></span></li><li><span class="TLline"><a href="/medgen/575664" ref="tree=MeSH" title="MedGen record for Streptococcal toxic-shock syndrome">Streptococcal toxic-shock syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66078" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome">Treacher Collins syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/994681" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome 1">Treacher Collins syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/462333" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome 2">Treacher Collins syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/340868" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome 3">Treacher Collins syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/1712280" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome 4">Treacher Collins syndrome 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/140929" ref="tree=MeSH" title="MedGen record for Trichorhinophalangeal dysplasia type I">Trichorhinophalangeal dysplasia type I</a></span></li><li><span class="TLline"><a href="/medgen/90711" ref="tree=MeSH" title="MedGen record for Triploidy">Triploidy</a></span></li><li><span class="TLline"><a href="/medgen/113140" ref="tree=MeSH" title="MedGen record for Trisomy X syndrome">Trisomy X syndrome</a></span></li><li><span class="TLline"><a href="/medgen/334715" ref="tree=MeSH" title="MedGen record for Tubulointerstitial nephritis and uveitis syndrome">Tubulointerstitial nephritis and uveitis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/208899" ref="tree=MeSH" title="MedGen record for Twiddler Syndrome">Twiddler Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78754" ref="tree=MeSH" title="MedGen record for Usher syndrome">Usher syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/292820" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1">Usher syndrome type 1</a></span><ul><li><span class="TLline"><a href="/medgen/419358" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1B">Usher syndrome type 1B</a></span></li><li><span class="TLline"><a href="/medgen/338506" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1C">Usher syndrome type 1C</a></span></li><li><span class="TLline"><a href="/medgen/322051" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1D">Usher syndrome type 1D</a></span></li><li><span class="TLline"><a href="/medgen/400865" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1E">Usher syndrome type 1E</a></span></li><li><span class="TLline"><a href="/medgen/356393" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1F">Usher syndrome type 1F</a></span></li><li><span class="TLline"><a href="/medgen/339683" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1G">Usher syndrome type 1G</a></span></li><li><span class="TLline"><a href="/medgen/393392" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1H">Usher syndrome type 1H</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/83288" ref="tree=MeSH" title="MedGen record for Usher syndrome type 2">Usher syndrome type 2</a></span><ul><li><span class="TLline"><a href="/medgen/419359" ref="tree=MeSH" title="MedGen record for Usher syndrome type 2C">Usher syndrome type 2C</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/339336" ref="tree=MeSH" title="MedGen record for Usher syndrome type 3">Usher syndrome type 3</a></span><ul><li><span class="TLline"><a href="/medgen/1830415" ref="tree=MeSH" title="MedGen record for Usher syndrome type 3A">Usher syndrome type 3A</a></span></li><li><span class="TLline"><a href="/medgen/482696" ref="tree=MeSH" title="MedGen record for Usher syndrome type 3B">Usher syndrome type 3B</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/764087" ref="tree=MeSH" title="MedGen record for UV-sensitive syndrome 1">UV-sensitive syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/766212" ref="tree=MeSH" title="MedGen record for UV-sensitive syndrome 2">UV-sensitive syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/766242" ref="tree=MeSH" title="MedGen record for UV-sensitive syndrome 3">UV-sensitive syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/226870" ref="tree=MeSH" title="MedGen record for Uveitis-glaucoma-hyphema syndrome">Uveitis-glaucoma-hyphema syndrome</a></span></li><li><span class="TLline"><a href="/medgen/365892" ref="tree=MeSH" title="MedGen record for VACTERL association">VACTERL association</a></span></li><li><span class="TLline"><a href="/medgen/61233" ref="tree=MeSH" title="MedGen record for Van der Woude syndrome">Van der Woude syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1640616" ref="tree=MeSH" title="MedGen record for Van der Woude syndrome 1">Van der Woude syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/338272" ref="tree=MeSH" title="MedGen record for Van der Woude syndrome 2">Van der Woude syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/419936" ref="tree=MeSH" title="MedGen record for Vertebral artery syndrome">Vertebral artery syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1765785" ref="tree=MeSH" title="MedGen record for VEXAS syndrome">VEXAS syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340962" ref="tree=MeSH" title="MedGen record for Vici syndrome">Vici syndrome</a></span></li><li><span class="TLline"><a href="/medgen/465273" ref="tree=MeSH" title="MedGen record for Visceral heterotaxy">Visceral heterotaxy</a></span><ul><li><span class="TLline"><a href="/medgen/4255" ref="tree=MeSH" title="MedGen record for Dextrocardia">Dextrocardia</a></span></li><li><span class="TLline"><a href="/medgen/75620" ref="tree=MeSH" title="MedGen record for Heterotaxy">Heterotaxy</a></span><ul><li><span class="TLline"><a href="/medgen/868855" ref="tree=MeSH" title="MedGen record for Abnormality of abdominal situs">Abnormality of abdominal situs</a></span></li><li><span class="TLline"><a href="/medgen/1634559" ref="tree=MeSH" title="MedGen record for Isomerism">Isomerism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/465274" ref="tree=MeSH" title="MedGen record for Right atrial isomerism">Right atrial isomerism</a></span></li><li><span class="TLline"><a href="/medgen/1642262" ref="tree=MeSH" title="MedGen record for Situs inversus">Situs inversus</a></span></li><li><span class="TLline"><a href="/medgen/7331" ref="tree=MeSH" title="MedGen record for Situs inversus with levocardia">Situs inversus with levocardia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/22599" ref="tree=MeSH" title="MedGen record for Vogt-Koyanagi-Harada disease">Vogt-Koyanagi-Harada disease</a></span></li><li><span class="TLline"><a href="/medgen/473809" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome">Waardenburg syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/376211" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 1">Waardenburg syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/398443" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 2">Waardenburg syndrome type 2</a></span><ul><li><span class="TLline"><a href="/medgen/349786" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 2A">Waardenburg syndrome type 2A</a></span></li><li><span class="TLline"><a href="/medgen/373973" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 2B">Waardenburg syndrome type 2B</a></span></li><li><span class="TLline"><a href="/medgen/335755" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 2C">Waardenburg syndrome type 2C</a></span></li><li><span class="TLline"><a href="/medgen/323102" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 2D">Waardenburg syndrome type 2D</a></span></li><li><span class="TLline"><a href="/medgen/398476" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 2E">Waardenburg syndrome type 2E</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/86948" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 3">Waardenburg syndrome type 3</a></span></li><li><span class="TLline"><a href="/medgen/341244" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 4A">Waardenburg syndrome type 4A</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/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/462008" ref="tree=MeSH" title="MedGen record for Warsaw breakage syndrome">Warsaw breakage syndrome</a></span></li><li><span class="TLline"><a href="/medgen/96875" ref="tree=MeSH" title="MedGen record for Warts, hypogammaglobulinemia, infections, and myelokathexis">Warts, hypogammaglobulinemia, infections, and myelokathexis</a></span></li><li><span class="TLline"><a href="/medgen/22696" ref="tree=MeSH" title="MedGen record for Wasting disease">Wasting disease</a></span></li><li><span class="TLline"><a href="/medgen/53065" ref="tree=MeSH" title="MedGen record for Waterhouse-Friderichsen Syndrome">Waterhouse-Friderichsen Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82705" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome">Weill-Marchesani syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/416383" ref="tree=MeSH" title="MedGen record for Weill-Marchesani 4 syndrome, recessive">Weill-Marchesani 4 syndrome, recessive</a></span></li><li><span class="TLline"><a href="/medgen/1637058" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome 1">Weill-Marchesani syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/766699" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome 3">Weill-Marchesani syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/358388" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome 2, dominant">Weill-Marchesani syndrome 2, dominant</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/83883" ref="tree=MeSH" title="MedGen record for Wernicke-Korsakoff syndrome">Wernicke-Korsakoff syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/312391" ref="tree=MeSH" title="MedGen record for Alcoholic Korsakoff syndrome">Alcoholic Korsakoff syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/11519" ref="tree=MeSH" title="MedGen record for West syndrome">West syndrome</a></span></li><li><span class="TLline"><a href="/medgen/59799" ref="tree=MeSH" title="MedGen record for Williams syndrome">Williams syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1374854" ref="tree=MeSH" title="MedGen record for Wilms Tumor 1 Gene Syndromes">Wilms Tumor 1 Gene Syndromes</a></span></li><li><span class="TLline"><a href="/medgen/140926" ref="tree=MeSH" title="MedGen record for Wolcott-Rallison dysplasia">Wolcott-Rallison dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/21923" ref="tree=MeSH" title="MedGen record for Wolfram syndrome">Wolfram syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1641635" ref="tree=MeSH" title="MedGen record for Wolfram syndrome 1">Wolfram syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/347604" ref="tree=MeSH" title="MedGen record for Wolfram syndrome 2">Wolfram syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/325511" ref="tree=MeSH" title="MedGen record for Wolfram syndrome, mitochondrial form">Wolfram syndrome, mitochondrial form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/763877" ref="tree=MeSH" title="MedGen record for X-linked central congenital hypothyroidism with late-onset testicular enlargement">X-linked central congenital hypothyroidism with late-onset testicular enlargement</a></span></li><li><span class="TLline"><a href="/medgen/410064" ref="tree=MeSH" title="MedGen record for XFE progeroid syndrome">XFE progeroid syndrome</a></span></li><li><span class="TLline"><a href="/medgen/416028" ref="tree=MeSH" title="MedGen record for XXXY and XXXXY Syndrome">XXXY and XXXXY Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/422434" ref="tree=MeSH" title="MedGen record for XXYY syndrome">XXYY syndrome</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><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></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/38336897">Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 1, general recommendations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Korbonits M,
Blair JC,
Boguslawska A,
Ayuk J,
Davies JH,
Druce MR,
Evanson J,
Flanagan D,
Glynn N,
Higham CE,
Jacques TS,
Sinha S,
Simmons I,
Thorp N,
Swords FM,
Storr HL,
Spoudeas HA</span><br />
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
2024 May;20(5):278-289.
Epub 2024 Feb 9
doi: 10.1038/s41574-023-00948-8.
<span class="bold">PMID: </span><a href="/pubmed/38336897" target="_blank">38336897</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37343845">Successful treatment of JAK1-associated inflammatory disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fayand A,
Hentgen V,
Posseme C,
Lacout C,
Picard C,
Moguelet P,
Cescato M,
Sbeih N,
Moreau TRJ,
Zhu YYJ,
Charuel JL,
Corneau A,
Deibener-Kaminsky J,
Dupuy S,
Fusaro M,
Hoareau B,
Hovnanian A,
Langlois V,
Le Corre L,
Maciel TT,
Miskinyte S,
Miyara M,
Moulinet T,
Perret M,
Schuhmacher MH,
Rignault-Bricard R,
Viel S,
Vinit A,
Soria A,
Duffy D,
Launay JM,
Callebert J,
Herbeuval JP,
Rodero MP,
Georgin-Lavialle S</span><br />
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
2023 Oct;152(4):972-983.
Epub 2023 Jun 19
doi: 10.1016/j.jaci.2023.06.004.
<span class="bold">PMID: </span><a href="/pubmed/37343845" target="_blank">37343845</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28715916">Drug management of neutrophilic dermatoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Garcovich S,
De Simone C,
Berti E,
Marzano AV</span><br />
<span class="medgenPMjournal">Expert Rev Clin Pharmacol</span>
2017 Oct;10(10):1119-1128.
Epub 2017 Jul 27
doi: 10.1080/17512433.2017.1356719.
<span class="bold">PMID: </span><a href="/pubmed/28715916" target="_blank">28715916</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22syndromic%20disease%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 (11)</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/38336897">Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 1, general recommendations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Korbonits M,
Blair JC,
Boguslawska A,
Ayuk J,
Davies JH,
Druce MR,
Evanson J,
Flanagan D,
Glynn N,
Higham CE,
Jacques TS,
Sinha S,
Simmons I,
Thorp N,
Swords FM,
Storr HL,
Spoudeas HA</span><br />
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
2024 May;20(5):278-289.
Epub 2024 Feb 9
doi: 10.1038/s41574-023-00948-8.
<span class="bold">PMID: </span><a href="/pubmed/38336897" target="_blank">38336897</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34127841">Negative electroretinograms: genetic and acquired causes, diagnostic approaches and physiological insights.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang X,
Mahroo OA</span><br />
<span class="medgenPMjournal">Eye (Lond)</span>
2021 Sep;35(9):2419-2437.
Epub 2021 Jun 14
doi: 10.1038/s41433-021-01604-z.
<span class="bold">PMID: </span><a href="/pubmed/34127841" target="_blank">34127841</a><a href="/pmc/articles/PMC8377097" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33631351">Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Morales A,
Ing A,
Antolik C,
Austin-Tse C,
Baudhuin LM,
Bronicki L,
Cirino A,
Hawley MH,
Fietz M,
Garcia J,
Ho C,
Ingles J,
Jarinova O,
Johnston T,
Kelly MA,
Kurtz CL,
Lebo M,
Macaya D,
Mahanta L,
Maleszewski J,
Manrai AK,
Murray M,
Richard G,
Semsarian C,
Thomson KL,
Winder T,
Ware JS,
Hershberger RE,
Funke BH,
Vatta M;
ClinGen Cardiovascular Clinical Domain Working Group;
Cardiomyopathy Variant Curation Expert Panel</span><br />
<span class="medgenPMjournal">J Mol Diagn</span>
2021 May;23(5):589-598.
Epub 2021 Feb 22
doi: 10.1016/j.jmoldx.2021.01.014.
<span class="bold">PMID: </span><a href="/pubmed/33631351" target="_blank">33631351</a><a href="/pmc/articles/PMC8188618" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28715916">Drug management of neutrophilic dermatoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Garcovich S,
De Simone C,
Berti E,
Marzano AV</span><br />
<span class="medgenPMjournal">Expert Rev Clin Pharmacol</span>
2017 Oct;10(10):1119-1128.
Epub 2017 Jul 27
doi: 10.1080/17512433.2017.1356719.
<span class="bold">PMID: </span><a href="/pubmed/28715916" target="_blank">28715916</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23900355">Dilated cardiomyopathy: the complexity of a diverse genetic architecture.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hershberger RE,
Hedges DJ,
Morales A</span><br />
<span class="medgenPMjournal">Nat Rev Cardiol</span>
2013 Sep;10(9):531-47.
Epub 2013 Jul 30
doi: 10.1038/nrcardio.2013.105.
<span class="bold">PMID: </span><a href="/pubmed/23900355" target="_blank">23900355</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndromic%20disease%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 (44)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38336897">Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 1, general recommendations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Korbonits M,
Blair JC,
Boguslawska A,
Ayuk J,
Davies JH,
Druce MR,
Evanson J,
Flanagan D,
Glynn N,
Higham CE,
Jacques TS,
Sinha S,
Simmons I,
Thorp N,
Swords FM,
Storr HL,
Spoudeas HA</span><br />
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
2024 May;20(5):278-289.
Epub 2024 Feb 9
doi: 10.1038/s41574-023-00948-8.
<span class="bold">PMID: </span><a href="/pubmed/38336897" target="_blank">38336897</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38038882">Genetics of hereditary forms of primary hyperparathyroidism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">English KA,
Lines KE,
Thakker RV</span><br />
<span class="medgenPMjournal">Hormones (Athens)</span>
2024 Mar;23(1):3-14.
Epub 2023 Dec 1
doi: 10.1007/s42000-023-00508-9.
<span class="bold">PMID: </span><a href="/pubmed/38038882" target="_blank">38038882</a><a href="/pmc/articles/PMC10847196" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33189026">Syndromic Autism Revisited: Review of the Literature and Lessons Learned.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ziats CA,
Patterson WG,
Friez M</span><br />
<span class="medgenPMjournal">Pediatr Neurol</span>
2021 Jan;114:21-25.
Epub 2020 Jun 28
doi: 10.1016/j.pediatrneurol.2020.06.011.
<span class="bold">PMID: </span><a href="/pubmed/33189026" target="_blank">33189026</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30985498">Adrenal tumors: when to search for a germline abnormality?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gimenez-Roqueplo AP</span><br />
<span class="medgenPMjournal">Curr Opin Oncol</span>
2019 May;31(3):230-235.
doi: 10.1097/CCO.0000000000000525.
<span class="bold">PMID: </span><a href="/pubmed/30985498" target="_blank">30985498</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30851756">Pierre Robin Sequence.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hsieh ST,
Woo AS</span><br />
<span class="medgenPMjournal">Clin Plast Surg</span>
2019 Apr;46(2):249-259.
Epub 2019 Feb 8
doi: 10.1016/j.cps.2018.11.010.
<span class="bold">PMID: </span><a href="/pubmed/30851756" target="_blank">30851756</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndromic%20disease%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 (52)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/37343845">Successful treatment of JAK1-associated inflammatory disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fayand A,
Hentgen V,
Posseme C,
Lacout C,
Picard C,
Moguelet P,
Cescato M,
Sbeih N,
Moreau TRJ,
Zhu YYJ,
Charuel JL,
Corneau A,
Deibener-Kaminsky J,
Dupuy S,
Fusaro M,
Hoareau B,
Hovnanian A,
Langlois V,
Le Corre L,
Maciel TT,
Miskinyte S,
Miyara M,
Moulinet T,
Perret M,
Schuhmacher MH,
Rignault-Bricard R,
Viel S,
Vinit A,
Soria A,
Duffy D,
Launay JM,
Callebert J,
Herbeuval JP,
Rodero MP,
Georgin-Lavialle S</span><br />
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
2023 Oct;152(4):972-983.
Epub 2023 Jun 19
doi: 10.1016/j.jaci.2023.06.004.
<span class="bold">PMID: </span><a href="/pubmed/37343845" target="_blank">37343845</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36743926">HRAS overexpression predicts response to Lenvatinib treatment in gastroenteropancreatic neuroendocrine tumors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liverani C,
Spadazzi C,
Ibrahim T,
Pieri F,
Foca F,
Calabrese C,
De Vita A,
Miserocchi G,
Cocchi C,
Vanni S,
Ercolani G,
Cavaliere D,
Ranallo N,
Chiadini E,
Prisinzano G,
Severi S,
Sansovini M,
Martinelli G,
Bongiovanni A,
Mercatali L</span><br />
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
2022;13:1045038.
Epub 2023 Jan 20
doi: 10.3389/fendo.2022.1045038.
<span class="bold">PMID: </span><a href="/pubmed/36743926" target="_blank">36743926</a><a href="/pmc/articles/PMC9895371" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28715916">Drug management of neutrophilic dermatoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Garcovich S,
De Simone C,
Berti E,
Marzano AV</span><br />
<span class="medgenPMjournal">Expert Rev Clin Pharmacol</span>
2017 Oct;10(10):1119-1128.
Epub 2017 Jul 27
doi: 10.1080/17512433.2017.1356719.
<span class="bold">PMID: </span><a href="/pubmed/28715916" target="_blank">28715916</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25325854">Side-effects and complications of laser treatment in diabetic retinal disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Deschler EK,
Sun JK,
Silva PS</span><br />
<span class="medgenPMjournal">Semin Ophthalmol</span>
2014 Sep-Nov;29(5-6):290-300.
doi: 10.3109/08820538.2014.959198.
<span class="bold">PMID: </span><a href="/pubmed/25325854" target="_blank">25325854</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12192542">The continuing importance of thyroid scintigraphy in the era of high-resolution ultrasound.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Meller J,
Becker W</span><br />
<span class="medgenPMjournal">Eur J Nucl Med Mol Imaging</span>
2002 Aug;29 Suppl 2:S425-38.
Epub 2002 May 15
doi: 10.1007/s00259-002-0811-8.
<span class="bold">PMID: </span><a href="/pubmed/12192542" target="_blank">12192542</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndromic%20disease%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 (13)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38038882">Genetics of hereditary forms of primary hyperparathyroidism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">English KA,
Lines KE,
Thakker RV</span><br />
<span class="medgenPMjournal">Hormones (Athens)</span>
2024 Mar;23(1):3-14.
Epub 2023 Dec 1
doi: 10.1007/s42000-023-00508-9.
<span class="bold">PMID: </span><a href="/pubmed/38038882" target="_blank">38038882</a><a href="/pmc/articles/PMC10847196" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29779206">Old, New, and Emerging Immunohistochemical Markers in Pheochromocytoma and Paraganglioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cheung VKY,
Gill AJ,
Chou A</span><br />
<span class="medgenPMjournal">Endocr Pathol</span>
2018 Jun;29(2):169-175.
doi: 10.1007/s12022-018-9534-7.
<span class="bold">PMID: </span><a href="/pubmed/29779206" target="_blank">29779206</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29239034">Succinate dehydrogenase (SDH)-deficient neoplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gill AJ</span><br />
<span class="medgenPMjournal">Histopathology</span>
2018 Jan;72(1):106-116.
doi: 10.1111/his.13277.
<span class="bold">PMID: </span><a href="/pubmed/29239034" target="_blank">29239034</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27427238">"Wild type" GIST: Clinicopathological features and clinical practice.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wada R,
Arai H,
Kure S,
Peng WX,
Naito Z</span><br />
<span class="medgenPMjournal">Pathol Int</span>
2016 Aug;66(8):431-7.
Epub 2016 Jul 18
doi: 10.1111/pin.12431.
<span class="bold">PMID: </span><a href="/pubmed/27427238" target="_blank">27427238</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25325857">Systemic diseases associated with retinal dystrophies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Werdich XQ,
Place EM,
Pierce EA</span><br />
<span class="medgenPMjournal">Semin Ophthalmol</span>
2014 Sep-Nov;29(5-6):319-28.
doi: 10.3109/08820538.2014.959202.
<span class="bold">PMID: </span><a href="/pubmed/25325857" target="_blank">25325857</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndromic%20disease%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 (27)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/35288444">Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Debiec RM,
Hamby SE,
Jones PD,
Safwan K,
Sosin M,
Hetherington SL,
Sprigings D,
Sharman D,
Lee K,
Salahshouri P,
Wheeldon N,
Chukwuemeka A,
Boutziouka V,
Elamin M,
Coolman S,
Asiani M,
Kharodia S,
Skinner GJ,
Samani NJ,
Webb TR,
Bolger AP</span><br />
<span class="medgenPMjournal">Heart</span>
2022 Jun 24;108(14):1114-1120.
doi: 10.1136/heartjnl-2021-320428.
<span class="bold">PMID: </span><a href="/pubmed/35288444" target="_blank">35288444</a><a href="/pmc/articles/PMC9240330" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29239034">Succinate dehydrogenase (SDH)-deficient neoplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gill AJ</span><br />
<span class="medgenPMjournal">Histopathology</span>
2018 Jan;72(1):106-116.
doi: 10.1111/his.13277.
<span class="bold">PMID: </span><a href="/pubmed/29239034" target="_blank">29239034</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27427238">"Wild type" GIST: Clinicopathological features and clinical practice.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wada R,
Arai H,
Kure S,
Peng WX,
Naito Z</span><br />
<span class="medgenPMjournal">Pathol Int</span>
2016 Aug;66(8):431-7.
Epub 2016 Jul 18
doi: 10.1111/pin.12431.
<span class="bold">PMID: </span><a href="/pubmed/27427238" target="_blank">27427238</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23900355">Dilated cardiomyopathy: the complexity of a diverse genetic architecture.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hershberger RE,
Hedges DJ,
Morales A</span><br />
<span class="medgenPMjournal">Nat Rev Cardiol</span>
2013 Sep;10(9):531-47.
Epub 2013 Jul 30
doi: 10.1038/nrcardio.2013.105.
<span class="bold">PMID: </span><a href="/pubmed/23900355" target="_blank">23900355</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15486880">Occult, life-threatening, cardial tumor in syndactylism in Gorlin Goltz syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Doede T,
Seidel J,
Riede FT,
Vogt L,
Mohr FW,
Schier F</span><br />
<span class="medgenPMjournal">J Pediatr Surg</span>
2004 Oct;39(10):e17-9.
doi: 10.1016/j.jpedsurg.2004.06.042.
<span class="bold">PMID: </span><a href="/pubmed/15486880" target="_blank">15486880</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndromic%20disease%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 (30)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/35288444">Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Debiec RM,
Hamby SE,
Jones PD,
Safwan K,
Sosin M,
Hetherington SL,
Sprigings D,
Sharman D,
Lee K,
Salahshouri P,
Wheeldon N,
Chukwuemeka A,
Boutziouka V,
Elamin M,
Coolman S,
Asiani M,
Kharodia S,
Skinner GJ,
Samani NJ,
Webb TR,
Bolger AP</span><br />
<span class="medgenPMjournal">Heart</span>
2022 Jun 24;108(14):1114-1120.
doi: 10.1136/heartjnl-2021-320428.
<span class="bold">PMID: </span><a href="/pubmed/35288444" target="_blank">35288444</a><a href="/pmc/articles/PMC9240330" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33189026">Syndromic Autism Revisited: Review of the Literature and Lessons Learned.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ziats CA,
Patterson WG,
Friez M</span><br />
<span class="medgenPMjournal">Pediatr Neurol</span>
2021 Jan;114:21-25.
Epub 2020 Jun 28
doi: 10.1016/j.pediatrneurol.2020.06.011.
<span class="bold">PMID: </span><a href="/pubmed/33189026" target="_blank">33189026</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22488956">Consanguinity and the risk of congenital heart disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shieh JT,
Bittles AH,
Hudgins L</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2012 May;158A(5):1236-41.
Epub 2012 Apr 9
doi: 10.1002/ajmg.a.35272.
<span class="bold">PMID: </span><a href="/pubmed/22488956" target="_blank">22488956</a><a href="/pmc/articles/PMC3331952" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndromic%20disease%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 (3)</a></div></div>
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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=(%22syndromic%20disease%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(%22Syndromic%20disease%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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