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UID=474891
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ConceptID=C3273258
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital Systemic Disorder</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>474891</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3273258</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet_content ln">An inherited disorder that presents with systemic manifestations. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Congenital Systemic Disorder</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="matched_ds">Congenital Systemic Disorder</span><ul><li><span class="TLline"><a href="/medgen/52359" ref="tree=MeSH" title="MedGen record for Abdominal situs inversus">Abdominal situs inversus</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/473002" ref="tree=MeSH" title="MedGen record for Situs inversus thoracis">Situs inversus thoracis</a></span><ul><li><span class="TLline"><a href="/medgen/768595" ref="tree=MeSH" title="MedGen record for Dextrocardia Situs Solitus">Dextrocardia Situs Solitus</a></span></li></ul></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/52948" ref="tree=MeSH" title="MedGen record for Abnormality of the genitourinary system">Abnormality of the genitourinary system</a></span><ul><li><span class="TLline"><a href="/medgen/155422" ref="tree=MeSH" title="MedGen record for Abnormality of the genital system">Abnormality of the genital system</a></span><ul><li><span class="TLline"><a href="/medgen/866746" ref="tree=MeSH" title="MedGen record for Abnormal reproductive system morphology">Abnormal reproductive system morphology</a></span></li><li><span class="TLline"><a href="/medgen/892582" ref="tree=MeSH" title="MedGen record for Abnormality of reproductive system physiology">Abnormality of reproductive system physiology</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867444" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system">Abnormality of the urinary system</a></span><ul><li><span class="TLline"><a href="/medgen/869218" ref="tree=MeSH" title="MedGen record for Abnormality of the lower urinary tract">Abnormality of the lower urinary tract</a></span></li><li><span class="TLline"><a href="/medgen/869219" ref="tree=MeSH" title="MedGen record for Abnormality of the upper urinary tract">Abnormality of the upper urinary tract</a></span></li><li><span class="TLline"><a href="/medgen/869020" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system physiology">Abnormality of the urinary system physiology</a></span></li><li><span class="TLline"><a href="/medgen/853235" ref="tree=MeSH" title="MedGen record for Urinary tract atresia">Urinary tract atresia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1638227" ref="tree=MeSH" title="MedGen record for Absent penis">Absent penis</a></span></li><li><span class="TLline"><a href="/medgen/120574" ref="tree=MeSH" title="MedGen record for Agenesis of uterus">Agenesis of uterus</a></span></li><li><span class="TLline"><a href="/medgen/2661" ref="tree=MeSH" title="MedGen record for Bladder exstrophy">Bladder exstrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1740753" ref="tree=MeSH" title="MedGen record for Supravesical Fissure of Urinary Bladder">Supravesical Fissure of Urinary Bladder</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/539831" ref="tree=MeSH" title="MedGen record for Congenital fusion of kidneys">Congenital fusion of kidneys</a></span></li><li><span class="TLline"><a href="/medgen/472904" ref="tree=MeSH" title="MedGen record for Congenital malformation of the urinary system">Congenital malformation of the urinary system</a></span><ul><li><span class="TLline"><a href="/medgen/451008" ref="tree=MeSH" title="MedGen record for Congenital posterior urethral valve">Congenital posterior urethral valve</a></span></li><li><span class="TLline"><a href="/medgen/884131" ref="tree=MeSH" title="MedGen record for Congenital Renal Hypoplasia">Congenital Renal Hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/75608" ref="tree=MeSH" title="MedGen record for Double kidney">Double kidney</a></span></li><li><span class="TLline"><a href="/medgen/65140" ref="tree=MeSH" title="MedGen record for Horseshoe kidney">Horseshoe kidney</a></span></li><li><span class="TLline"><a href="/medgen/163083" ref="tree=MeSH" title="MedGen record for Hypospadias">Hypospadias</a></span></li><li><span class="TLline"><a href="/medgen/1790202" ref="tree=MeSH" title="MedGen record for Malposition of Ureter">Malposition of Ureter</a></span></li><li><span class="TLline"><a href="/medgen/75610" ref="tree=MeSH" title="MedGen record for Patent urachus">Patent urachus</a></span></li><li><span class="TLline"><a href="/medgen/67446" ref="tree=MeSH" title="MedGen record for Pelvic kidney">Pelvic kidney</a></span></li><li><span class="TLline"><a href="/medgen/154237" ref="tree=MeSH" title="MedGen record for Renal agenesis">Renal agenesis</a></span></li><li><span class="TLline"><a href="/medgen/609128" ref="tree=MeSH" title="MedGen record for Urachal diverticulum">Urachal diverticulum</a></span></li><li><span class="TLline"><a href="/medgen/888314" ref="tree=MeSH" title="MedGen record for Urachal Remnant">Urachal Remnant</a></span></li><li><span class="TLline"><a href="/medgen/66380" ref="tree=MeSH" title="MedGen record for Ureteral duplication">Ureteral duplication</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/769757" ref="tree=MeSH" title="MedGen record for Congenital Reproductive System Abnormality">Congenital Reproductive System Abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/415936" ref="tree=MeSH" title="MedGen record for Disorder of sexual differentiation">Disorder of sexual differentiation</a></span></li><li><span class="TLline"><a href="/medgen/233774" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Gonadal Disorder">Non-Neoplastic Gonadal Disorder</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/8192" ref="tree=MeSH" title="MedGen record for Cryptorchidism">Cryptorchidism</a></span><ul><li><span class="TLline"><a href="/medgen/96568" ref="tree=MeSH" title="MedGen record for Bilateral cryptorchidism">Bilateral cryptorchidism</a></span></li><li><span class="TLline"><a href="/medgen/98467" ref="tree=MeSH" title="MedGen record for Unilateral cryptorchidism">Unilateral cryptorchidism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/41839" ref="tree=MeSH" title="MedGen record for Epispadias">Epispadias</a></span><ul><li><span class="TLline"><a href="/medgen/889299" ref="tree=MeSH" title="MedGen record for Continent Epispadias">Continent Epispadias</a></span></li><li><span class="TLline"><a href="/medgen/647750" ref="tree=MeSH" title="MedGen record for Epispadias, male">Epispadias, male</a></span></li><li><span class="TLline"><a href="/medgen/881685" ref="tree=MeSH" title="MedGen record for Incontinent Epispadias">Incontinent Epispadias</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/384527" ref="tree=MeSH" title="MedGen record for Fetal pyelectasis">Fetal pyelectasis</a></span><ul><li><span class="TLline"><a href="/medgen/869105" ref="tree=MeSH" title="MedGen record for Bilateral fetal pyelectasis">Bilateral fetal pyelectasis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10305" ref="tree=MeSH" title="MedGen record for Hereditary nephritis">Hereditary nephritis</a></span></li><li><span class="TLline"><a href="/medgen/91040" ref="tree=MeSH" title="MedGen record for Hypoplasia of the vagina">Hypoplasia of the vagina</a></span></li><li><span class="TLline"><a href="/medgen/811388" ref="tree=MeSH" title="MedGen record for Multicystic kidney dysplasia">Multicystic kidney dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/333563" ref="tree=MeSH" title="MedGen record for Bilateral multicystic dysplastic kidney">Bilateral multicystic dysplastic kidney</a></span></li><li><span class="TLline"><a href="/medgen/292613" ref="tree=MeSH" title="MedGen record for Unilateral multicystic dysplastic kidney">Unilateral multicystic dysplastic kidney</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/357036" ref="tree=MeSH" title="MedGen record for Penoscrotal transposition">Penoscrotal transposition</a></span></li><li><span class="TLline"><a href="/medgen/342367" ref="tree=MeSH" title="MedGen record for Persistent Mullerian duct syndrome">Persistent Mullerian duct syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/857533" ref="tree=MeSH" title="MedGen record for Persistent mullerian duct syndrome, type I">Persistent mullerian duct syndrome, type I</a></span></li><li><span class="TLline"><a href="/medgen/857534" ref="tree=MeSH" title="MedGen record for Persistent mullerian duct syndrome, type II">Persistent mullerian duct syndrome, type II</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/536828" ref="tree=MeSH" title="MedGen record for Retrocaval ureter">Retrocaval ureter</a></span></li><li><span class="TLline"><a href="/medgen/20725" ref="tree=MeSH" title="MedGen record for Sex Development Disorder">Sex Development Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/424728" ref="tree=MeSH" title="MedGen record for 46,XX disorder of sex development">46,XX disorder of sex development</a></span></li><li><span class="TLline"><a href="/medgen/411324" ref="tree=MeSH" title="MedGen record for 46,XX sex reversal 1">46,XX sex reversal 1</a></span></li><li><span class="TLline"><a href="/medgen/414114" ref="tree=MeSH" title="MedGen record for 46,XY disorder of sex development">46,XY disorder of sex development</a></span></li><li><span class="TLline"><a href="/medgen/86215" ref="tree=MeSH" title="MedGen record for Adrenogenital syndrome">Adrenogenital syndrome</a></span></li><li><span class="TLline"><a href="/medgen/9075" ref="tree=MeSH" title="MedGen record for Gonadal dysgenesis">Gonadal dysgenesis</a></span></li><li><span class="TLline"><a href="/medgen/423530" ref="tree=MeSH" title="MedGen record for Sex chromosome disorder of sex development">Sex chromosome disorder of sex development</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75607" ref="tree=MeSH" title="MedGen record for Unilateral renal agenesis">Unilateral renal agenesis</a></span></li><li><span class="TLline"><a href="/medgen/52941" ref="tree=MeSH" title="MedGen record for Urinary fistula">Urinary fistula</a></span><ul><li><span class="TLline"><a href="/medgen/2662" ref="tree=MeSH" title="MedGen record for Bladder fistula">Bladder fistula</a></span></li><li><span class="TLline"><a href="/medgen/184922" ref="tree=MeSH" title="MedGen record for Renal Pelvis Fistula">Renal Pelvis Fistula</a></span></li><li><span class="TLline"><a href="/medgen/21780" ref="tree=MeSH" title="MedGen record for Urethral fistula">Urethral fistula</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/163124" ref="tree=MeSH" title="MedGen record for Urogenital fistula">Urogenital fistula</a></span><ul><li><span class="TLline"><a href="/medgen/12023" ref="tree=MeSH" title="MedGen record for Female urinary-genital tract fistula">Female urinary-genital tract fistula</a></span></li><li><span class="TLline"><a href="/medgen/107555" ref="tree=MeSH" title="MedGen record for Perineal fistula">Perineal fistula</a></span></li><li><span class="TLline"><a href="/medgen/21812" ref="tree=MeSH" title="MedGen record for Vaginal fistula">Vaginal fistula</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892700" ref="tree=MeSH" title="MedGen record for Abnormal ganglion morphology">Abnormal ganglion morphology</a></span></li><li><span class="TLline"><a href="/medgen/867607" ref="tree=MeSH" title="MedGen record for Abnormal glial cell morphology">Abnormal glial cell morphology</a></span></li><li><span class="TLline"><a href="/medgen/347527" ref="tree=MeSH" title="MedGen record for Abnormal myelination">Abnormal myelination</a></span></li><li><span class="TLline"><a href="/medgen/868345" ref="tree=MeSH" title="MedGen record for Abnormal neuron morphology">Abnormal neuron morphology</a></span></li><li><span class="TLline"><a href="/medgen/892389" ref="tree=MeSH" title="MedGen record for Abnormal peripheral nervous system morphology">Abnormal peripheral nervous system morphology</a></span></li><li><span class="TLline"><a href="/medgen/892343" ref="tree=MeSH" title="MedGen record for Morphological central nervous system abnormality">Morphological central nervous system abnormality</a></span></li><li><span class="TLline"><a href="/medgen/45046" ref="tree=MeSH" title="MedGen record for Neoplasm of the nervous system">Neoplasm of the nervous system</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868940" ref="tree=MeSH" title="MedGen record for Abnormal central motor function">Abnormal central motor function</a></span></li><li><span class="TLline"><a href="/medgen/868805" ref="tree=MeSH" title="MedGen record for Abnormal central sensory function">Abnormal central sensory function</a></span></li><li><span class="TLline"><a href="/medgen/1671020" ref="tree=MeSH" title="MedGen record for Abnormal cranial nerve physiology">Abnormal cranial nerve physiology</a></span></li><li><span class="TLline"><a href="/medgen/868569" ref="tree=MeSH" title="MedGen record for Abnormal hypothalamus physiology">Abnormal hypothalamus physiology</a></span></li><li><span class="TLline"><a href="/medgen/867410" ref="tree=MeSH" title="MedGen record for Abnormal nervous system electrophysiology">Abnormal nervous system electrophysiology</a></span></li><li><span class="TLline"><a href="/medgen/1842046" ref="tree=MeSH" title="MedGen record for Abnormal spinal cord physiology">Abnormal spinal cord physiology</a></span></li><li><span class="TLline"><a href="/medgen/866736" ref="tree=MeSH" title="MedGen record for Abnormal synaptic transmission">Abnormal synaptic transmission</a></span></li><li><span class="TLline"><a href="/medgen/868415" ref="tree=MeSH" title="MedGen record for Abnormality of intracranial pressure">Abnormality of intracranial pressure</a></span></li><li><span class="TLline"><a href="/medgen/868938" ref="tree=MeSH" title="MedGen record for Abnormality of mental function">Abnormality of mental function</a></span></li><li><span class="TLline"><a href="/medgen/867293" ref="tree=MeSH" title="MedGen record for Abnormality of the sense of smell">Abnormality of the sense of smell</a></span></li><li><span class="TLline"><a href="/medgen/1863449" ref="tree=MeSH" title="MedGen record for Autonomic-voluntary dissociation of facial movements">Autonomic-voluntary dissociation of facial movements</a></span></li><li><span class="TLline"><a href="/medgen/751376" ref="tree=MeSH" title="MedGen record for Brain imaging abnormality">Brain imaging abnormality</a></span></li><li><span class="TLline"><a href="/medgen/898626" ref="tree=MeSH" title="MedGen record for Bulbar palsy">Bulbar palsy</a></span></li><li><span class="TLline"><a href="/medgen/347246" ref="tree=MeSH" title="MedGen record for Bulbar signs">Bulbar signs</a></span></li><li><span class="TLline"><a href="/medgen/373253" ref="tree=MeSH" title="MedGen record for Easy fatigability">Easy fatigability</a></span></li><li><span class="TLline"><a href="/medgen/39314" ref="tree=MeSH" title="MedGen record for Encephalopathy">Encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/9149" ref="tree=MeSH" title="MedGen record for Headache">Headache</a></span></li><li><span class="TLline"><a href="/medgen/57499" ref="tree=MeSH" title="MedGen record for Hypocalcemic tetany">Hypocalcemic tetany</a></span></li><li><span class="TLline"><a href="/medgen/108397" ref="tree=MeSH" title="MedGen record for Lhermitte sign">Lhermitte sign</a></span></li><li><span class="TLline"><a href="/medgen/10113" ref="tree=MeSH" title="MedGen record for Movement disorder">Movement disorder</a></span></li><li><span class="TLline"><a href="/medgen/868343" ref="tree=MeSH" title="MedGen record for Neurodevelopmental abnormality">Neurodevelopmental abnormality</a></span></li><li><span class="TLline"><a href="/medgen/18386" ref="tree=MeSH" title="MedGen record for Peripheral neuropathy">Peripheral neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/1814206" ref="tree=MeSH" title="MedGen record for Perisylvian FDG hypermetabolism">Perisylvian FDG hypermetabolism</a></span></li><li><span class="TLline"><a href="/medgen/374006" ref="tree=MeSH" title="MedGen record for Pseudobulbar signs">Pseudobulbar signs</a></span></li><li><span class="TLline"><a href="/medgen/20693" ref="tree=MeSH" title="MedGen record for Seizure">Seizure</a></span></li><li><span class="TLline"><a href="/medgen/1790456" ref="tree=MeSH" title="MedGen record for Somatic sensory dysfunction">Somatic sensory dysfunction</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/324748" ref="tree=MeSH" title="MedGen record for Abnormality of neuronal migration">Abnormality of neuronal migration</a></span><ul><li><span class="TLline"><a href="/medgen/408200" ref="tree=MeSH" title="MedGen record for Classical Lissencephalies and Subcortical Band Heterotopias">Classical Lissencephalies and Subcortical Band Heterotopias</a></span></li><li><span class="TLline"><a href="/medgen/96562" ref="tree=MeSH" title="MedGen record for Cobblestone lissencephaly">Cobblestone lissencephaly</a></span></li><li><span class="TLline"><a href="/medgen/452349" ref="tree=MeSH" title="MedGen record for Gray matter heterotopia">Gray matter heterotopia</a></span></li><li><span class="TLline"><a href="/medgen/78604" ref="tree=MeSH" title="MedGen record for Lissencephaly">Lissencephaly</a></span></li><li><span class="TLline"><a href="/medgen/358387" ref="tree=MeSH" title="MedGen record for Periventricular nodular heterotopia">Periventricular nodular heterotopia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892810" ref="tree=MeSH" title="MedGen record for Abnormality of the peripheral nervous system">Abnormality of the peripheral nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/1705638" ref="tree=MeSH" title="MedGen record for Abnormal peripheral nervous system physiology">Abnormal peripheral nervous system physiology</a></span></li><li><span class="TLline"><a href="/medgen/871233" ref="tree=MeSH" title="MedGen record for Abnormality of the autonomic nervous system">Abnormality of the autonomic nervous system</a></span></li><li><span class="TLline"><a href="/medgen/892889" ref="tree=MeSH" title="MedGen record for Abnormality of the somatic nervous system">Abnormality of the somatic nervous system</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/138106" ref="tree=MeSH" title="MedGen record for Central nervous system cyst">Central nervous system cyst</a></span><ul><li><span class="TLline"><a href="/medgen/86860" ref="tree=MeSH" title="MedGen record for Arachnoid cyst">Arachnoid cyst</a></span></li><li><span class="TLline"><a href="/medgen/232037" ref="tree=MeSH" title="MedGen record for Central Nervous System Colloid Cyst">Central Nervous System Colloid Cyst</a></span></li><li><span class="TLline"><a href="/medgen/163485" ref="tree=MeSH" title="MedGen record for Central Nervous System Epidermoid Cyst">Central Nervous System Epidermoid Cyst</a></span></li><li><span class="TLline"><a href="/medgen/57594" ref="tree=MeSH" title="MedGen record for Cerebral cyst">Cerebral cyst</a></span></li><li><span class="TLline"><a href="/medgen/87376" ref="tree=MeSH" title="MedGen record for Choroid plexus cyst">Choroid plexus cyst</a></span></li><li><span class="TLline"><a href="/medgen/137679" ref="tree=MeSH" title="MedGen record for Colloid cyst">Colloid cyst</a></span></li><li><span class="TLline"><a href="/medgen/272571" ref="tree=MeSH" title="MedGen record for Endodermal Cyst">Endodermal Cyst</a></span></li><li><span class="TLline"><a href="/medgen/90929" ref="tree=MeSH" title="MedGen record for Ependymal cyst">Ependymal cyst</a></span></li><li><span class="TLline"><a href="/medgen/232661" ref="tree=MeSH" title="MedGen record for Intracranial Colloid Cyst">Intracranial Colloid Cyst</a></span></li><li><span class="TLline"><a href="/medgen/866894" ref="tree=MeSH" title="MedGen record for Intracranial cystic lesion">Intracranial cystic lesion</a></span></li><li><span class="TLline"><a href="/medgen/235227" ref="tree=MeSH" title="MedGen record for Intraspinal Cyst">Intraspinal Cyst</a></span></li><li><span class="TLline"><a href="/medgen/87578" ref="tree=MeSH" title="MedGen record for Meningeal cyst">Meningeal cyst</a></span></li><li><span class="TLline"><a href="/medgen/14343" ref="tree=MeSH" title="MedGen record for Neurenteric cyst">Neurenteric cyst</a></span></li><li><span class="TLline"><a href="/medgen/105457" ref="tree=MeSH" title="MedGen record for Perineural cyst">Perineural cyst</a></span></li><li><span class="TLline"><a href="/medgen/235476" ref="tree=MeSH" title="MedGen record for Pineal cyst">Pineal cyst</a></span></li><li><span class="TLline"><a href="/medgen/87441" ref="tree=MeSH" title="MedGen record for Pituitary gland cyst">Pituitary gland cyst</a></span></li><li><span class="TLline"><a href="/medgen/156245" ref="tree=MeSH" title="MedGen record for Rathke pouch cyst">Rathke pouch cyst</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/120578" ref="tree=MeSH" title="MedGen record for Cerebellar hypoplasia">Cerebellar hypoplasia</a></span><ul><li><span class="TLline"><a href="/medgen/867764" ref="tree=MeSH" title="MedGen record for Cerebellar hemisphere hypoplasia">Cerebellar hemisphere hypoplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/581580" ref="tree=MeSH" title="MedGen record for Congenital facial nerve palsy">Congenital facial nerve palsy</a></span></li><li><span class="TLline"><a href="/medgen/9336" ref="tree=MeSH" title="MedGen record for Congenital hydrocephalus">Congenital hydrocephalus</a></span><ul><li><span class="TLline"><a href="/medgen/1842324" ref="tree=MeSH" title="MedGen record for Congenital communicating hydrocephalus">Congenital communicating hydrocephalus</a></span></li><li><span class="TLline"><a href="/medgen/1616373" ref="tree=MeSH" title="MedGen record for Congenital non-communicating hydrocephalus">Congenital non-communicating hydrocephalus</a></span></li><li><span class="TLline"><a href="/medgen/1648319" ref="tree=MeSH" title="MedGen record for Hydrocephalus, congenital, 3, with brain anomalies">Hydrocephalus, congenital, 3, with brain anomalies</a></span></li><li><span class="TLline"><a href="/medgen/854455" ref="tree=MeSH" title="MedGen record for Hydrocephalus, nonsyndromic, autosomal recessive 1">Hydrocephalus, nonsyndromic, autosomal recessive 1</a></span></li><li><span class="TLline"><a href="/medgen/767605" ref="tree=MeSH" title="MedGen record for Hydrocephalus, nonsyndromic, autosomal recessive 2">Hydrocephalus, nonsyndromic, autosomal recessive 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/488957" ref="tree=MeSH" title="MedGen record for Congenital meningocele">Congenital meningocele</a></span><ul><li><span class="TLline"><a href="/medgen/507591" ref="tree=MeSH" title="MedGen record for Congenital cerebral meningocele">Congenital cerebral meningocele</a></span></li><li><span class="TLline"><a href="/medgen/507597" ref="tree=MeSH" title="MedGen record for Congenital spinal meningocele">Congenital spinal meningocele</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/104498" ref="tree=MeSH" title="MedGen record for Corpus callosum, agenesis of">Corpus callosum, agenesis of</a></span><ul><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/61236" ref="tree=MeSH" title="MedGen record for Aicardi syndrome">Aicardi 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></li><li><span class="TLline"><a href="/medgen/98127" ref="tree=MeSH" title="MedGen record for Partial agenesis of the corpus callosum">Partial agenesis of the corpus callosum</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></ul></li><li><span class="TLline"><a href="/medgen/56290" ref="tree=MeSH" title="MedGen record for Craniorachischisis">Craniorachischisis</a></span></li><li><span class="TLline"><a href="/medgen/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/3801" ref="tree=MeSH" title="MedGen record for Diastematomyelia">Diastematomyelia</a></span></li><li><span class="TLline"><a href="/medgen/1646412" ref="tree=MeSH" title="MedGen record for Encephalocele">Encephalocele</a></span><ul><li><span class="TLline"><a href="/medgen/1853830" ref="tree=MeSH" title="MedGen record for Anterior encephalocele">Anterior encephalocele</a></span></li><li><span class="TLline"><a href="/medgen/868771" ref="tree=MeSH" title="MedGen record for Basal encephalocele">Basal encephalocele</a></span></li><li><span class="TLline"><a href="/medgen/358250" ref="tree=MeSH" title="MedGen record for Cranium bifidum occultum">Cranium bifidum occultum</a></span></li><li><span class="TLline"><a href="/medgen/82743" ref="tree=MeSH" title="MedGen record for Meningoencephalocele">Meningoencephalocele</a></span></li><li><span class="TLline"><a href="/medgen/4935" ref="tree=MeSH" title="MedGen record for Occipital encephalocele">Occipital encephalocele</a></span></li><li><span class="TLline"><a href="/medgen/488903" ref="tree=MeSH" title="MedGen record for Parietal encephalocele">Parietal encephalocele</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/155625" ref="tree=MeSH" title="MedGen record for Glycine encephalopathy">Glycine encephalopathy</a></span><ul><li><span class="TLline"><a href="/medgen/934910" ref="tree=MeSH" title="MedGen record for Atypical glycine encephalopathy">Atypical glycine encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/1781124" ref="tree=MeSH" title="MedGen record for Infantile glycine encephalopathy">Infantile glycine encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/1785446" ref="tree=MeSH" title="MedGen record for Neonatal glycine encephalopathy">Neonatal glycine encephalopathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45066" ref="tree=MeSH" title="MedGen record for Hereditary motor and sensory neuropathy">Hereditary motor and sensory neuropathy</a></span><ul><li><span class="TLline"><a href="/medgen/78675" ref="tree=MeSH" title="MedGen record for Alstrom syndrome">Alstrom syndrome</a></span></li><li><span class="TLline"><a href="/medgen/2980" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease">Charcot-Marie-Tooth disease</a></span></li><li><span class="TLline"><a href="/medgen/1684765" ref="tree=MeSH" title="MedGen record for Giant axonal neuropathy">Giant axonal neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/20844" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia">Hereditary spastic paraplegia</a></span></li><li><span class="TLline"><a href="/medgen/11161" ref="tree=MeSH" title="MedGen record for Phytanic acid storage disease">Phytanic acid storage disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/474858" ref="tree=MeSH" title="MedGen record for Hereditary Neurodegenerative Disorder">Hereditary Neurodegenerative Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/482001" ref="tree=MeSH" title="MedGen record for Neurodegeneration with brain iron accumulation 4">Neurodegeneration with brain iron accumulation 4</a></span></li><li><span class="TLline"><a href="/medgen/763887" ref="tree=MeSH" title="MedGen record for Neurodegeneration with brain iron accumulation 5">Neurodegeneration with brain iron accumulation 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/14355" ref="tree=MeSH" title="MedGen record for Hereditary sensory and autonomic neuropathy">Hereditary sensory and autonomic neuropathy</a></span><ul><li><span class="TLline"><a href="/medgen/1830087" ref="tree=MeSH" title="MedGen record for Congenital insensitivity to pain with hyperhidrosis">Congenital insensitivity to pain with hyperhidrosis</a></span></li><li><span class="TLline"><a href="/medgen/41678" ref="tree=MeSH" title="MedGen record for Familial dysautonomia">Familial dysautonomia</a></span></li><li><span class="TLline"><a href="/medgen/930069" ref="tree=MeSH" title="MedGen record for X-linked hereditary sensory and autonomic neuropathy with hearing loss">X-linked hereditary sensory and autonomic neuropathy with hearing loss</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6937" ref="tree=MeSH" title="MedGen record for Hydranencephaly">Hydranencephaly</a></span></li><li><span class="TLline"><a href="/medgen/364975" ref="tree=MeSH" title="MedGen record for Malformation of cortical development">Malformation of cortical development</a></span><ul><li><span class="TLline"><a href="/medgen/827134" ref="tree=MeSH" title="MedGen record for Malformations of Cortical Development, Group I">Malformations of Cortical Development, Group I</a></span></li><li><span class="TLline"><a href="/medgen/827133" ref="tree=MeSH" title="MedGen record for Malformations of Cortical Development, Group III">Malformations of Cortical Development, Group III</a></span></li><li><span class="TLline"><a href="/medgen/336288" ref="tree=MeSH" title="MedGen record for Subcortical band heterotopia">Subcortical band heterotopia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/386642" ref="tree=MeSH" title="MedGen record for microgyria">microgyria</a></span></li><li><span class="TLline"><a href="/medgen/39678" ref="tree=MeSH" title="MedGen record for Myelocele">Myelocele</a></span><ul><li><span class="TLline"><a href="/medgen/473138" ref="tree=MeSH" title="MedGen record for Cervical myelocele">Cervical myelocele</a></span></li><li><span class="TLline"><a href="/medgen/473136" ref="tree=MeSH" title="MedGen record for Lumbar myelocele">Lumbar myelocele</a></span></li><li><span class="TLline"><a href="/medgen/476119" ref="tree=MeSH" title="MedGen record for Sacral Myelocele">Sacral Myelocele</a></span></li><li><span class="TLline"><a href="/medgen/473137" ref="tree=MeSH" title="MedGen record for Thoracic myelocele">Thoracic myelocele</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/18009" ref="tree=MeSH" title="MedGen record for Neural tube defect">Neural tube defect</a></span><ul><li><span class="TLline"><a href="/medgen/8068" ref="tree=MeSH" title="MedGen record for Anencephaly">Anencephaly</a></span></li><li><span class="TLline"><a href="/medgen/4934" ref="tree=MeSH" title="MedGen record for Cephalocele">Cephalocele</a></span></li><li><span class="TLline"><a href="/medgen/2065" ref="tree=MeSH" title="MedGen record for Chiari malformation">Chiari malformation</a></span></li><li><span class="TLline"><a href="/medgen/1814386" ref="tree=MeSH" title="MedGen record for Closed neural tube defect">Closed neural tube defect</a></span></li><li><span class="TLline"><a href="/medgen/672791" ref="tree=MeSH" title="MedGen record for Holorachischisis">Holorachischisis</a></span></li><li><span class="TLline"><a href="/medgen/57756" ref="tree=MeSH" title="MedGen record for Iniencephaly">Iniencephaly</a></span></li><li><span class="TLline"><a href="/medgen/903577" ref="tree=MeSH" title="MedGen record for Meningohydroencephalocele">Meningohydroencephalocele</a></span></li><li><span class="TLline"><a href="/medgen/7538" ref="tree=MeSH" title="MedGen record for Myelomeningocele">Myelomeningocele</a></span></li><li><span class="TLline"><a href="/medgen/856010" ref="tree=MeSH" title="MedGen record for Neural tube defects, susceptibility to">Neural tube defects, susceptibility to</a></span></li><li><span class="TLline"><a href="/medgen/1814385" ref="tree=MeSH" title="MedGen record for Open neural tube defect">Open neural tube defect</a></span></li><li><span class="TLline"><a href="/medgen/107540" ref="tree=MeSH" title="MedGen record for Pentalogy of Cantrell">Pentalogy of Cantrell</a></span></li><li><span class="TLline"><a href="/medgen/38283" ref="tree=MeSH" title="MedGen record for Spina bifida">Spina bifida</a></span></li><li><span class="TLline"><a href="/medgen/87487" ref="tree=MeSH" title="MedGen record for Spinal dysraphism">Spinal dysraphism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/137901" ref="tree=MeSH" title="MedGen record for Optic nerve hypoplasia">Optic nerve hypoplasia</a></span><ul><li><span class="TLline"><a href="/medgen/322281" ref="tree=MeSH" title="MedGen record for Isolated optic nerve hypoplasia">Isolated optic nerve hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/768708" ref="tree=MeSH" title="MedGen record for Unilateral Optic Nerve Hypoplasia">Unilateral Optic Nerve Hypoplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78605" ref="tree=MeSH" title="MedGen record for Polymicrogyria">Polymicrogyria</a></span><ul><li><span class="TLline"><a href="/medgen/376107" ref="tree=MeSH" title="MedGen record for Bilateral frontoparietal polymicrogyria">Bilateral frontoparietal polymicrogyria</a></span></li><li><span class="TLline"><a href="/medgen/1647593" ref="tree=MeSH" title="MedGen record for Bilateral polymicrogyria">Bilateral polymicrogyria</a></span></li><li><span class="TLline"><a href="/medgen/1703574" ref="tree=MeSH" title="MedGen record for Focal polymicrogyria">Focal polymicrogyria</a></span></li><li><span class="TLline"><a href="/medgen/335671" ref="tree=MeSH" title="MedGen record for Frontal polymicrogyria">Frontal polymicrogyria</a></span></li><li><span class="TLline"><a href="/medgen/1707261" ref="tree=MeSH" title="MedGen record for Parasagittal parieto-occipital polymicrogyria">Parasagittal parieto-occipital polymicrogyria</a></span></li><li><span class="TLline"><a href="/medgen/481305" ref="tree=MeSH" title="MedGen record for Perisylvian polymicrogyria">Perisylvian polymicrogyria</a></span></li><li><span class="TLline"><a href="/medgen/870513" ref="tree=MeSH" title="MedGen record for Unilateral polymicrogyria">Unilateral polymicrogyria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78606" ref="tree=MeSH" title="MedGen record for Schizencephaly">Schizencephaly</a></span><ul><li><span class="TLline"><a href="/medgen/1825983" ref="tree=MeSH" title="MedGen record for Acquired schizencephaly">Acquired schizencephaly</a></span></li><li><span class="TLline"><a href="/medgen/419186" ref="tree=MeSH" title="MedGen record for Familial schizencephaly">Familial schizencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1814208" ref="tree=MeSH" title="MedGen record for Type 1 schizencephaly">Type 1 schizencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1814209" ref="tree=MeSH" title="MedGen record for Type 2 schizencephaly">Type 2 schizencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1814210" ref="tree=MeSH" title="MedGen record for Type 3 schizencephaly">Type 3 schizencephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/156014" ref="tree=MeSH" title="MedGen record for Vascular malformation of the nervous system">Vascular malformation of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/851" ref="tree=MeSH" title="MedGen record for Arteriovenous Malformation, Intracranial">Arteriovenous Malformation, Intracranial</a></span></li><li><span class="TLline"><a href="/medgen/199825" ref="tree=MeSH" title="MedGen record for Central Nervous System Cavernous Hemangioma">Central Nervous System Cavernous Hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/156018" ref="tree=MeSH" title="MedGen record for Central Nervous System Venous Angioma">Central Nervous System Venous Angioma</a></span></li><li><span class="TLline"><a href="/medgen/214590" ref="tree=MeSH" title="MedGen record for Cerebral arteriovenous malformation">Cerebral arteriovenous malformation</a></span></li><li><span class="TLline"><a href="/medgen/418825" ref="tree=MeSH" title="MedGen record for Cerebral cavernous malformation">Cerebral cavernous malformation</a></span></li><li><span class="TLline"><a href="/medgen/890255" ref="tree=MeSH" title="MedGen record for Meningioangiomatosis">Meningioangiomatosis</a></span></li><li><span class="TLline"><a href="/medgen/120580" ref="tree=MeSH" title="MedGen record for Sinus pericranii">Sinus pericranii</a></span></li><li><span class="TLline"><a href="/medgen/287069" ref="tree=MeSH" title="MedGen record for Vein of Galen malformation">Vein of Galen malformation</a></span></li></ul></li></ul></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/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/777113" ref="tree=MeSH" title="MedGen record for Congenital anomaly of cardiovascular system">Congenital anomaly of cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/137676" ref="tree=MeSH" title="MedGen record for Congenital arteriovenous fistula">Congenital arteriovenous fistula</a></span><ul><li><span class="TLline"><a href="/medgen/1679454" ref="tree=MeSH" title="MedGen record for Congenital systemic arteriovenous fistula">Congenital systemic arteriovenous fistula</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/443486" ref="tree=MeSH" title="MedGen record for Congenital Coronary Artery Abnormality">Congenital Coronary Artery Abnormality</a></span></li><li><span class="TLline"><a href="/medgen/57501" ref="tree=MeSH" title="MedGen record for Congenital heart disease">Congenital heart disease</a></span><ul><li><span class="TLline"><a href="/medgen/6748" ref="tree=MeSH" title="MedGen record for Abnormal heart morphology">Abnormal heart morphology</a></span></li><li><span class="TLline"><a href="/medgen/539575" ref="tree=MeSH" title="MedGen record for Abnormality of the pulmonary veins">Abnormality of the pulmonary veins</a></span></li><li><span class="TLline"><a href="/medgen/451016" ref="tree=MeSH" title="MedGen record for Aortic valve atresia">Aortic valve atresia</a></span></li><li><span class="TLline"><a href="/medgen/473062" ref="tree=MeSH" title="MedGen record for Congenital complete atrioventricular heart block">Congenital complete atrioventricular heart block</a></span></li><li><span class="TLline"><a href="/medgen/6752" ref="tree=MeSH" title="MedGen record for Heart septal defect">Heart septal defect</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></li><li><span class="TLline"><a href="/medgen/9872" ref="tree=MeSH" title="MedGen record for Malposition of Heart and Cardiac Apex">Malposition of Heart and Cardiac Apex</a></span></li><li><span class="TLline"><a href="/medgen/91035" ref="tree=MeSH" title="MedGen record for Mitral atresia disorder">Mitral atresia disorder</a></span></li><li><span class="TLline"><a href="/medgen/45825" ref="tree=MeSH" title="MedGen record for Ostium primum defect">Ostium primum defect</a></span></li><li><span class="TLline"><a href="/medgen/120559" ref="tree=MeSH" title="MedGen record for Overriding aorta">Overriding aorta</a></span></li><li><span class="TLline"><a href="/medgen/450995" ref="tree=MeSH" title="MedGen record for Partial anomalous pulmonary venous return">Partial anomalous pulmonary venous return</a></span></li><li><span class="TLline"><a href="/medgen/8891" ref="tree=MeSH" title="MedGen record for Patent foramen ovale">Patent foramen ovale</a></span></li><li><span class="TLline"><a href="/medgen/52867" ref="tree=MeSH" title="MedGen record for Persistent truncus arteriosus">Persistent truncus arteriosus</a></span></li><li><span class="TLline"><a href="/medgen/116684" ref="tree=MeSH" title="MedGen record for Pulmonary valve atresia">Pulmonary valve atresia</a></span></li><li><span class="TLline"><a href="/medgen/21498" ref="tree=MeSH" title="MedGen record for Tetralogy of Fallot">Tetralogy of Fallot</a></span></li><li><span class="TLline"><a href="/medgen/67034" ref="tree=MeSH" title="MedGen record for Tricuspid atresia">Tricuspid atresia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/743837" ref="tree=MeSH" title="MedGen record for Congenital vascular malformation">Congenital vascular malformation</a></span><ul><li><span class="TLline"><a href="/medgen/137780" ref="tree=MeSH" title="MedGen record for Arteriovenous hemangioma/malformation">Arteriovenous hemangioma/malformation</a></span></li><li><span class="TLline"><a href="/medgen/8080" ref="tree=MeSH" title="MedGen record for Vascular ectasia">Vascular ectasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/476118" ref="tree=MeSH" title="MedGen record for Congenital Vena Cava Abnormality">Congenital Vena Cava Abnormality</a></span></li><li><span class="TLline"><a href="/medgen/760705" ref="tree=MeSH" title="MedGen record for Discordant ventriculoarterial connection">Discordant ventriculoarterial connection</a></span></li><li><span class="TLline"><a href="/medgen/41649" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle">Double outlet right ventricle</a></span><ul><li><span class="TLline"><a href="/medgen/1842277" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy">Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy</a></span></li><li><span class="TLline"><a href="/medgen/489000" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis">Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/868837" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis">Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/365501" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with non-committed subpulmonary ventricular septal defect">Double outlet right ventricle with non-committed subpulmonary ventricular septal defect</a></span></li><li><span class="TLline"><a href="/medgen/868836" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis">Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/868835" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis">Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/1843284" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subaortic or doubly committed ventricular septal defect">Double outlet right ventricle with subaortic or doubly committed ventricular septal defect</a></span></li><li><span class="TLline"><a href="/medgen/798712" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis">Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/868834" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis">Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/868833" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis">Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/365502" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subpulmonary ventricular septal defect">Double outlet right ventricle with subpulmonary ventricular septal defect</a></span></li><li><span class="TLline"><a href="/medgen/868832" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis">Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/408331" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis">Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/41703" ref="tree=MeSH" title="MedGen record for Ectopia cordis">Ectopia cordis</a></span><ul><li><span class="TLline"><a href="/medgen/868876" ref="tree=MeSH" title="MedGen record for Abdominal ectopia cordis">Abdominal ectopia cordis</a></span></li><li><span class="TLline"><a href="/medgen/868875" ref="tree=MeSH" title="MedGen record for Cervical ectopia cordis">Cervical ectopia cordis</a></span></li><li><span class="TLline"><a href="/medgen/868873" ref="tree=MeSH" title="MedGen record for Thoracic ectopia cordis">Thoracic ectopia cordis</a></span></li><li><span class="TLline"><a href="/medgen/868872" ref="tree=MeSH" title="MedGen record for Thoracoabdominal ectopia cordis">Thoracoabdominal ectopia cordis</a></span></li><li><span class="TLline"><a href="/medgen/868874" ref="tree=MeSH" title="MedGen record for Thoracocervical ectopia cordis">Thoracocervical ectopia cordis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/476191" ref="tree=MeSH" title="MedGen record for Great Vessels Abnormality">Great Vessels Abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/57773" ref="tree=MeSH" title="MedGen record for Aortic arch interruption">Aortic arch interruption</a></span></li><li><span class="TLline"><a href="/medgen/48474" ref="tree=MeSH" title="MedGen record for Right aortic arch">Right aortic arch</a></span></li><li><span class="TLline"><a href="/medgen/21245" ref="tree=MeSH" title="MedGen record for Transposition of the great arteries">Transposition of the great arteries</a></span></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/473330" ref="tree=MeSH" title="MedGen record for Premature closure of the ductus arteriosus">Premature closure of the ductus arteriosus</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/476149" ref="tree=MeSH" title="MedGen record for Single Ventricle Defect">Single Ventricle Defect</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/4623" ref="tree=MeSH" title="MedGen record for Congenital anomaly of eye">Congenital anomaly of eye</a></span><ul><li><span class="TLline"><a href="/medgen/314" ref="tree=MeSH" title="MedGen record for Anophthalmia">Anophthalmia</a></span><ul><li><span class="TLline"><a href="/medgen/768661" ref="tree=MeSH" title="MedGen record for Bilateral anophthalmos of eyes">Bilateral anophthalmos of eyes</a></span></li><li><span class="TLline"><a href="/medgen/436469" ref="tree=MeSH" title="MedGen record for True anophthalmia">True anophthalmia</a></span></li><li><span class="TLline"><a href="/medgen/768662" ref="tree=MeSH" title="MedGen record for Unilateral Anophthalmos">Unilateral Anophthalmos</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2670" ref="tree=MeSH" title="MedGen record for Blepharophimosis">Blepharophimosis</a></span><ul><li><span class="TLline"><a href="/medgen/375896" ref="tree=MeSH" title="MedGen record for Palpebral fissure narrowing on adduction">Palpebral fissure narrowing on adduction</a></span></li><li><span class="TLline"><a href="/medgen/356621" ref="tree=MeSH" title="MedGen record for Unilateral narrow palpebral fissure">Unilateral narrow palpebral fissure</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/573149" ref="tree=MeSH" title="MedGen record for Choroidal effusion">Choroidal effusion</a></span><ul><li><span class="TLline"><a href="/medgen/695079" ref="tree=MeSH" title="MedGen record for Cyclodialysis cleft">Cyclodialysis cleft</a></span></li><li><span class="TLline"><a href="/medgen/573147" ref="tree=MeSH" title="MedGen record for Uveal effusion syndrome">Uveal effusion syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1941" ref="tree=MeSH" title="MedGen record for Congenital aniridia">Congenital aniridia</a></span><ul><li><span class="TLline"><a href="/medgen/64512" ref="tree=MeSH" title="MedGen record for 11p partial monosomy syndrome">11p partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/978406" ref="tree=MeSH" title="MedGen record for Isolated aniridia">Isolated aniridia</a></span></li><li><span class="TLline"><a href="/medgen/1843362" ref="tree=MeSH" title="MedGen record for Syndromic aniridia">Syndromic aniridia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/56269" ref="tree=MeSH" title="MedGen record for Congenital ankyloblepharon">Congenital ankyloblepharon</a></span></li><li><span class="TLline"><a href="/medgen/42532" ref="tree=MeSH" title="MedGen record for Congenital glaucoma">Congenital glaucoma</a></span><ul><li><span class="TLline"><a href="/medgen/288550" ref="tree=MeSH" title="MedGen record for Primary congenital glaucoma">Primary congenital glaucoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1046" ref="tree=MeSH" title="MedGen record for Congenital ocular coloboma">Congenital ocular coloboma</a></span><ul><li><span class="TLline"><a href="/medgen/75567" ref="tree=MeSH" title="MedGen record for CHARGE syndrome">CHARGE syndrome</a></span></li><li><span class="TLline"><a href="/medgen/66820" ref="tree=MeSH" title="MedGen record for Chorioretinal coloboma">Chorioretinal coloboma</a></span></li><li><span class="TLline"><a href="/medgen/892599" ref="tree=MeSH" title="MedGen record for Ciliary body coloboma">Ciliary body coloboma</a></span></li><li><span class="TLline"><a href="/medgen/57832" ref="tree=MeSH" title="MedGen record for Coloboma of optic nerve">Coloboma of optic nerve</a></span></li><li><span class="TLline"><a href="/medgen/116097" ref="tree=MeSH" title="MedGen record for Iris coloboma">Iris coloboma</a></span></li><li><span class="TLline"><a href="/medgen/761889" ref="tree=MeSH" title="MedGen record for Retinal coloboma">Retinal coloboma</a></span></li><li><span class="TLline"><a href="/medgen/66078" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome">Treacher Collins syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3202" ref="tree=MeSH" title="MedGen record for Developmental cataract">Developmental cataract</a></span><ul><li><span class="TLline"><a href="/medgen/478689" ref="tree=MeSH" title="MedGen record for Congenital Bilateral Cataracts">Congenital Bilateral Cataracts</a></span></li><li><span class="TLline"><a href="/medgen/768668" ref="tree=MeSH" title="MedGen record for Congenital Unilateral Cataract">Congenital Unilateral Cataract</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/41704" ref="tree=MeSH" title="MedGen record for Ectopia lentis">Ectopia lentis</a></span><ul><li><span class="TLline"><a href="/medgen/762106" ref="tree=MeSH" title="MedGen record for Ectopia lentis 1, isolated, autosomal dominant">Ectopia lentis 1, isolated, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/762100" ref="tree=MeSH" title="MedGen record for Ectopia lentis 2, isolated, autosomal recessive">Ectopia lentis 2, isolated, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/301316" ref="tree=MeSH" title="MedGen record for Ectopia lentis et pupillae">Ectopia lentis et pupillae</a></span></li><li><span class="TLline"><a href="/medgen/6043" ref="tree=MeSH" title="MedGen record for Lens luxation">Lens luxation</a></span></li><li><span class="TLline"><a href="/medgen/9718" ref="tree=MeSH" title="MedGen record for Lens subluxation">Lens subluxation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/573220" ref="tree=MeSH" title="MedGen record for Familial exudative vitreoretinopathy">Familial exudative vitreoretinopathy</a></span></li><li><span class="TLline"><a href="/medgen/1741758" ref="tree=MeSH" title="MedGen record for Glioneuroma of ciliary body">Glioneuroma of ciliary body</a></span></li><li><span class="TLline"><a href="/medgen/10033" ref="tree=MeSH" title="MedGen record for Microphthalmia">Microphthalmia</a></span><ul><li><span class="TLline"><a href="/medgen/334420" ref="tree=MeSH" title="MedGen record for Bilateral microphthalmos">Bilateral microphthalmos</a></span></li><li><span class="TLline"><a href="/medgen/768664" ref="tree=MeSH" title="MedGen record for Unilateral microphthalmos">Unilateral microphthalmos</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1697710" ref="tree=MeSH" title="MedGen record for Persistent Hyaloid Vessels">Persistent Hyaloid Vessels</a></span></li><li><span class="TLline"><a href="/medgen/120583" ref="tree=MeSH" title="MedGen record for Persistent hyperplastic primary vitreous">Persistent hyperplastic primary vitreous</a></span><ul><li><span class="TLline"><a href="/medgen/901085" ref="tree=MeSH" title="MedGen record for Glial remnants anterior to the optic disc">Glial remnants anterior to the optic disc</a></span></li><li><span class="TLline"><a href="/medgen/721716" ref="tree=MeSH" title="MedGen record for Glial remnants posterior to lens">Glial remnants posterior to lens</a></span></li><li><span class="TLline"><a href="/medgen/898371" ref="tree=MeSH" title="MedGen record for Hyaloid vascular remnant and retrolental mass">Hyaloid vascular remnant and retrolental mass</a></span></li><li><span class="TLline"><a href="/medgen/869732" ref="tree=MeSH" title="MedGen record for Vascular remnant arising from the disk">Vascular remnant arising from the disk</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/138009" ref="tree=MeSH" title="MedGen record for Persistent pupillary membrane">Persistent pupillary membrane</a></span></li><li><span class="TLline"><a href="/medgen/120584" ref="tree=MeSH" title="MedGen record for Rare eyelid malformation">Rare eyelid malformation</a></span><ul><li><span class="TLline"><a href="/medgen/894858" ref="tree=MeSH" title="MedGen record for Congenital eyelid retraction">Congenital eyelid retraction</a></span></li><li><span class="TLline"><a href="/medgen/78612" ref="tree=MeSH" title="MedGen record for Congenital ptosis">Congenital ptosis</a></span></li><li><span class="TLline"><a href="/medgen/141737" ref="tree=MeSH" title="MedGen record for Eyelid coloboma">Eyelid coloboma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/48433" ref="tree=MeSH" title="MedGen record for Retinal dysplasia">Retinal dysplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57466" ref="tree=MeSH" title="MedGen record for Congenital anomaly of musculoskeletal system">Congenital anomaly of musculoskeletal system</a></span><ul><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/2455" ref="tree=MeSH" title="MedGen record for Arthrogryposis">Arthrogryposis</a></span><ul><li><span class="TLline"><a href="/medgen/67391" ref="tree=MeSH" title="MedGen record for Congenital contractural arachnodactyly">Congenital contractural arachnodactyly</a></span></li><li><span class="TLline"><a href="/medgen/120516" ref="tree=MeSH" title="MedGen record for Freeman-Sheldon syndrome">Freeman-Sheldon syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/527772" ref="tree=MeSH" title="MedGen record for Bone structure of L6">Bone structure of L6</a></span></li><li><span class="TLline"><a href="/medgen/354620" ref="tree=MeSH" title="MedGen record for Camptomelic dysplasia">Camptomelic dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/396251" ref="tree=MeSH" title="MedGen record for Acampomelic campomelic dysplasia">Acampomelic campomelic dysplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/60222" ref="tree=MeSH" title="MedGen record for Congenital deformities of limbs">Congenital deformities of limbs</a></span><ul><li><span class="TLline"><a href="/medgen/2047" ref="tree=MeSH" title="MedGen record for Arachnodactyly">Arachnodactyly</a></span></li><li><span class="TLline"><a href="/medgen/67454" ref="tree=MeSH" title="MedGen record for Brachydactyly">Brachydactyly</a></span></li><li><span class="TLline"><a href="/medgen/395251" ref="tree=MeSH" title="MedGen record for Congenital bowing of long bones">Congenital bowing of long bones</a></span></li><li><span class="TLline"><a href="/medgen/96571" ref="tree=MeSH" title="MedGen record for Congenital deformity of lower limb">Congenital deformity of lower limb</a></span></li><li><span class="TLline"><a href="/medgen/152892" ref="tree=MeSH" title="MedGen record for Congenital deformity of upper limb">Congenital deformity of upper limb</a></span></li><li><span class="TLline"><a href="/medgen/66821" ref="tree=MeSH" title="MedGen record for Congenital vertical talus">Congenital vertical talus</a></span></li><li><span class="TLline"><a href="/medgen/3966" ref="tree=MeSH" title="MedGen record for Ectromelia">Ectromelia</a></span></li><li><span class="TLline"><a href="/medgen/57774" ref="tree=MeSH" title="MedGen record for Polydactyly">Polydactyly</a></span></li><li><span class="TLline"><a href="/medgen/39008" ref="tree=MeSH" title="MedGen record for Proteus syndrome">Proteus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/52619" ref="tree=MeSH" title="MedGen record for Syndactyly">Syndactyly</a></span></li><li><span class="TLline"><a href="/medgen/21124" ref="tree=MeSH" title="MedGen record for Thanatophoric dysplasia">Thanatophoric dysplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/120500" ref="tree=MeSH" title="MedGen record for Congenital laryngomalacia">Congenital laryngomalacia</a></span></li><li><span class="TLline"><a href="/medgen/5293" ref="tree=MeSH" title="MedGen record for Congenital pectus excavatum">Congenital pectus excavatum</a></span></li><li><span class="TLline"><a href="/medgen/91281" ref="tree=MeSH" title="MedGen record for Craniofacial Abnormalities">Craniofacial Abnormalities</a></span><ul><li><span class="TLline"><a href="/medgen/422333" ref="tree=MeSH" title="MedGen record for 22q11 Deletion Syndrome">22q11 Deletion Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/3486" ref="tree=MeSH" title="MedGen record for Cleidocranial dysostosis">Cleidocranial dysostosis</a></span></li><li><span class="TLline"><a href="/medgen/108454" ref="tree=MeSH" title="MedGen record for Costello syndrome">Costello syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1163" ref="tree=MeSH" title="MedGen record for Craniosynostosis syndrome">Craniosynostosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1162" ref="tree=MeSH" title="MedGen record for Crouzon syndrome">Crouzon syndrome</a></span></li><li><span class="TLline"><a href="/medgen/44422" ref="tree=MeSH" title="MedGen record for Isolated congenital microcephaly">Isolated congenital microcephaly</a></span></li><li><span class="TLline"><a href="/medgen/82708" ref="tree=MeSH" title="MedGen record for Leprechaunism syndrome">Leprechaunism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/395827" ref="tree=MeSH" title="MedGen record for Loeys-Dietz syndrome">Loeys-Dietz syndrome</a></span></li><li><span class="TLline"><a href="/medgen/101209" ref="tree=MeSH" title="MedGen record for Maxillofacial Abnormalities">Maxillofacial Abnormalities</a></span></li><li><span class="TLline"><a href="/medgen/65141" ref="tree=MeSH" title="MedGen record for Megalencephaly">Megalencephaly</a></span></li><li><span class="TLline"><a href="/medgen/18073" ref="tree=MeSH" title="MedGen record for Noonan syndrome">Noonan syndrome</a></span></li><li><span class="TLline"><a href="/medgen/104494" ref="tree=MeSH" title="MedGen record for Noonan syndrome with multiple lentigines">Noonan syndrome with multiple lentigines</a></span></li><li><span class="TLline"><a href="/medgen/14518" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome">Orofaciodigital syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78562" ref="tree=MeSH" title="MedGen record for Plagiocephaly">Plagiocephaly</a></span></li><li><span class="TLline"><a href="/medgen/45959" ref="tree=MeSH" title="MedGen record for Platybasia">Platybasia</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><li><span class="TLline"><a href="/medgen/104492" ref="tree=MeSH" title="MedGen record for Russell-Silver syndrome">Russell-Silver syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1640560" ref="tree=MeSH" title="MedGen record for Developmental dysplasia of the hip">Developmental dysplasia of the hip</a></span></li><li><span class="TLline"><a href="/medgen/481650" ref="tree=MeSH" title="MedGen record for Developmental Hip Dysplasia">Developmental Hip Dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/82721" ref="tree=MeSH" title="MedGen record for Gastroschisis">Gastroschisis</a></span></li><li><span class="TLline"><a href="/medgen/182961" ref="tree=MeSH" title="MedGen record for Hajdu-Cheney syndrome">Hajdu-Cheney 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/57643" ref="tree=MeSH" title="MedGen record for Pectus carinatum">Pectus carinatum</a></span><ul><li><span class="TLline"><a href="/medgen/351219" ref="tree=MeSH" title="MedGen record for Superior pectus carinatum">Superior pectus carinatum</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/11689" ref="tree=MeSH" title="MedGen record for Synostosis">Synostosis</a></span><ul><li><span class="TLline"><a href="/medgen/389937" ref="tree=MeSH" title="MedGen record for Antley-Bixler Syndrome Phenotype">Antley-Bixler Syndrome Phenotype</a></span></li><li><span class="TLline"><a href="/medgen/539393" ref="tree=MeSH" title="MedGen record for Tarsal synostosis">Tarsal synostosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/137939" ref="tree=MeSH" title="MedGen record for Tracheobronchomalacia">Tracheobronchomalacia</a></span><ul><li><span class="TLline"><a href="/medgen/82679" ref="tree=MeSH" title="MedGen record for Bronchomalacia">Bronchomalacia</a></span></li><li><span class="TLline"><a href="/medgen/1814106" ref="tree=MeSH" title="MedGen record for Cartilaginous tracheobronchomalacia">Cartilaginous tracheobronchomalacia</a></span></li><li><span class="TLline"><a href="/medgen/1813883" ref="tree=MeSH" title="MedGen record for Excessive dynamic airway collapse">Excessive dynamic airway collapse</a></span></li><li><span class="TLline"><a href="/medgen/215296" ref="tree=MeSH" title="MedGen record for Tracheomalacia">Tracheomalacia</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/11449" ref="tree=MeSH" title="MedGen record for Congenital anomaly of skin">Congenital anomaly of skin</a></span><ul><li><span class="TLline"><a href="/medgen/1301" ref="tree=MeSH" title="MedGen record for Acrodermatitis">Acrodermatitis</a></span></li><li><span class="TLline"><a href="/medgen/266204" ref="tree=MeSH" title="MedGen record for Anetoderma">Anetoderma</a></span></li><li><span class="TLline"><a href="/medgen/79390" ref="tree=MeSH" title="MedGen record for Aplasia cutis congenita">Aplasia cutis congenita</a></span><ul><li><span class="TLline"><a href="/medgen/343411" ref="tree=MeSH" title="MedGen record for Aplasia cutis congenita of scalp">Aplasia cutis congenita of scalp</a></span></li><li><span class="TLline"><a href="/medgen/400308" ref="tree=MeSH" title="MedGen record for Aplasia cutis congenita on trunk or limbs">Aplasia cutis congenita on trunk or limbs</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/140810" ref="tree=MeSH" title="MedGen record for Carney complex">Carney complex</a></span><ul><li><span class="TLline"><a href="/medgen/340253" ref="tree=MeSH" title="MedGen record for Carney complex type 2">Carney complex type 2</a></span></li><li><span class="TLline"><a href="/medgen/388559" ref="tree=MeSH" title="MedGen record for Carney complex, type 1">Carney complex, type 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78580" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita">Dyskeratosis congenita</a></span><ul><li><span class="TLline"><a href="/medgen/502504" ref="tree=MeSH" title="MedGen record for Autosomal recessive dyskeratosis congenita">Autosomal recessive dyskeratosis congenita</a></span></li><li><span class="TLline"><a href="/medgen/462794" ref="tree=MeSH" title="MedGen record for Autosomal recessive dyskeratosis congenita 4">Autosomal recessive dyskeratosis congenita 4</a></span></li><li><span class="TLline"><a href="/medgen/1645250" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 1">Dyskeratosis congenita, autosomal dominant 1</a></span></li><li><span class="TLline"><a href="/medgen/462793" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 2">Dyskeratosis congenita, autosomal dominant 2</a></span></li><li><span class="TLline"><a href="/medgen/462795" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 3">Dyskeratosis congenita, autosomal dominant 3</a></span></li><li><span class="TLline"><a href="/medgen/904824" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 6">Dyskeratosis congenita, autosomal dominant 6</a></span></li><li><span class="TLline"><a href="/medgen/341705" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 1">Dyskeratosis congenita, autosomal recessive 1</a></span></li><li><span class="TLline"><a href="/medgen/462791" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 2">Dyskeratosis congenita, autosomal recessive 2</a></span></li><li><span class="TLline"><a href="/medgen/462792" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 3">Dyskeratosis congenita, autosomal recessive 3</a></span></li><li><span class="TLline"><a href="/medgen/767570" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 5">Dyskeratosis congenita, autosomal recessive 5</a></span></li><li><span class="TLline"><a href="/medgen/905452" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 6">Dyskeratosis congenita, autosomal recessive 6</a></span></li><li><span class="TLline"><a href="/medgen/216941" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, X-linked">Dyskeratosis congenita, X-linked</a></span></li><li><span class="TLline"><a href="/medgen/231230" ref="tree=MeSH" title="MedGen record for Revesz syndrome">Revesz syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8544" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia">Ectodermal dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/395426" ref="tree=MeSH" title="MedGen record for Ackerman syndrome">Ackerman syndrome</a></span></li><li><span class="TLline"><a href="/medgen/87435" ref="tree=MeSH" title="MedGen record for Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes">Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes</a></span></li><li><span class="TLline"><a href="/medgen/167081" ref="tree=MeSH" title="MedGen record for Alopecia - contractures - dwarfism - intellectual disability syndrome">Alopecia - contractures - dwarfism - intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98036" ref="tree=MeSH" title="MedGen record for Amelocerebrohypohidrotic syndrome">Amelocerebrohypohidrotic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/400184" ref="tree=MeSH" title="MedGen record for Ameloonychohypohidrotic syndrome">Ameloonychohypohidrotic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/310309" ref="tree=MeSH" title="MedGen record for Anhidrotic ectodermal dysplasia">Anhidrotic ectodermal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/929406" ref="tree=MeSH" title="MedGen record for Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome">Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98032" ref="tree=MeSH" title="MedGen record for Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome">Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome</a></span></li><li><span class="TLline"><a href="/medgen/400144" ref="tree=MeSH" title="MedGen record for Anonychia with flexural pigmentation">Anonychia with flexural pigmentation</a></span></li><li><span class="TLline"><a href="/medgen/340124" ref="tree=MeSH" title="MedGen record for Arrhythmogenic cardiomyopathy with wooly hair and keratoderma">Arrhythmogenic cardiomyopathy with wooly hair and keratoderma</a></span></li><li><span class="TLline"><a href="/medgen/1674099" ref="tree=MeSH" title="MedGen record for Arthrogryposis-ectodermal dysplasia-other anomalies syndrome">Arthrogryposis-ectodermal dysplasia-other anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/930338" ref="tree=MeSH" title="MedGen record for Autosomal dominant palmoplantar keratoderma and congenital alopecia">Autosomal dominant palmoplantar keratoderma and congenital alopecia</a></span></li><li><span class="TLline"><a href="/medgen/96067" ref="tree=MeSH" title="MedGen record for Autosomal recessive hypohidrotic ectodermal dysplasia syndrome">Autosomal recessive hypohidrotic ectodermal dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347851" ref="tree=MeSH" title="MedGen record for Autosomal recessive palmoplantar keratoderma and congenital alopecia">Autosomal recessive palmoplantar keratoderma and congenital alopecia</a></span></li><li><span class="TLline"><a href="/medgen/230818" ref="tree=MeSH" title="MedGen record for Barber-Say syndrome">Barber-Say syndrome</a></span></li><li><span class="TLline"><a href="/medgen/337894" ref="tree=MeSH" title="MedGen record for Bartsocas-Papas syndrome 1">Bartsocas-Papas syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/349302" ref="tree=MeSH" title="MedGen record for Blepharocheilodontic syndrome">Blepharocheilodontic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/266149" ref="tree=MeSH" title="MedGen record for Cardio-facio-cutaneous syndrome">Cardio-facio-cutaneous syndrome</a></span></li><li><span class="TLline"><a href="/medgen/167117" ref="tree=MeSH" title="MedGen record for Cataract-hypertrichosis-intellectual disability syndrome">Cataract-hypertrichosis-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347850" ref="tree=MeSH" title="MedGen record for Cerebellar ataxia-ectodermal dysplasia syndrome">Cerebellar ataxia-ectodermal dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341214" ref="tree=MeSH" title="MedGen record for CHIME syndrome">CHIME syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1641815" ref="tree=MeSH" title="MedGen record for Chondroectodermal dysplasia with night blindness">Chondroectodermal dysplasia with night blindness</a></span></li><li><span class="TLline"><a href="/medgen/419316" ref="tree=MeSH" title="MedGen record for Choroidal atrophy-alopecia syndrome">Choroidal atrophy-alopecia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/444067" ref="tree=MeSH" title="MedGen record for Cleft lip/palate-ectodermal dysplasia syndrome">Cleft lip/palate-ectodermal dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347428" ref="tree=MeSH" title="MedGen record for Conductive deafness-ptosis-skeletal anomalies syndrome">Conductive deafness-ptosis-skeletal anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/316921" ref="tree=MeSH" title="MedGen record for Congenital hypotrichosis with juvenile macular dystrophy">Congenital hypotrichosis with juvenile macular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/375546" ref="tree=MeSH" title="MedGen record for Contractures-ectodermal dysplasia-cleft lip/palate syndrome">Contractures-ectodermal dysplasia-cleft lip/palate syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1641011" ref="tree=MeSH" title="MedGen record for Cranioectodermal dysplasia">Cranioectodermal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/129128" ref="tree=MeSH" title="MedGen record for Cronkhite-Canada syndrome">Cronkhite-Canada syndrome</a></span></li><li><span class="TLline"><a href="/medgen/335923" ref="tree=MeSH" title="MedGen record for Curly hair - acral keratoderma - caries syndrome">Curly hair - acral keratoderma - caries syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98035" ref="tree=MeSH" title="MedGen record for Curly hair, ankyloblepharon, nail dysplasia syndrome">Curly hair, ankyloblepharon, nail dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/141594" ref="tree=MeSH" title="MedGen record for Curry-Hall syndrome">Curry-Hall syndrome</a></span></li><li><span class="TLline"><a href="/medgen/383693" ref="tree=MeSH" title="MedGen record for Dahlberg-Borer-Newcomer syndrome">Dahlberg-Borer-Newcomer syndrome</a></span></li><li><span class="TLline"><a href="/medgen/343498" ref="tree=MeSH" title="MedGen record for Deafness, enamel hypoplasia, nail defect syndrome">Deafness, enamel hypoplasia, nail defect syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419158" ref="tree=MeSH" title="MedGen record for Dennis-Fairhurst-Moore syndrome">Dennis-Fairhurst-Moore syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341742" ref="tree=MeSH" title="MedGen record for Dermatoosteolysis, Kirghizian type">Dermatoosteolysis, Kirghizian type</a></span></li><li><span class="TLline"><a href="/medgen/98037" ref="tree=MeSH" title="MedGen record for Dermatopathia pigmentosa reticularis">Dermatopathia pigmentosa reticularis</a></span></li><li><span class="TLline"><a href="/medgen/377602" ref="tree=MeSH" title="MedGen record for Dermo-odonto dysplasia">Dermo-odonto dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1672480" ref="tree=MeSH" title="MedGen record for Dermotrichic syndrome">Dermotrichic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/59797" ref="tree=MeSH" title="MedGen record for Dubowitz syndrome">Dubowitz syndrome</a></span></li><li><span class="TLline"><a href="/medgen/764338" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia 8, hair/tooth/nail type">Ectodermal dysplasia 8, hair/tooth/nail type</a></span></li><li><span class="TLline"><a href="/medgen/375786" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia and immune deficiency">Ectodermal dysplasia and immune deficiency</a></span></li><li><span class="TLline"><a href="/medgen/371331" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia with natal teeth, Turnpenny type">Ectodermal dysplasia with natal teeth, Turnpenny type</a></span></li><li><span class="TLline"><a href="/medgen/314095" ref="tree=MeSH" title="MedGen record for Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant">Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant</a></span></li><li><span class="TLline"><a href="/medgen/338798" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia, trichoodontoonychial type">Ectodermal dysplasia, trichoodontoonychial type</a></span></li><li><span class="TLline"><a href="/medgen/340297" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia-blindness syndrome">Ectodermal dysplasia-blindness syndrome</a></span></li><li><span class="TLline"><a href="/medgen/462159" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia-cutaneous syndactyly syndrome">Ectodermal dysplasia-cutaneous syndactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347363" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome">Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/346503" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia-sensorineural deafness syndrome">Ectodermal dysplasia-sensorineural deafness syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1648397" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia-syndactyly syndrome">Ectodermal dysplasia-syndactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98357" ref="tree=MeSH" title="MedGen record for Ectrodactyly-ectodermal dysplasia-clefting syndrome">Ectrodactyly-ectodermal dysplasia-clefting syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341679" ref="tree=MeSH" title="MedGen record for EEM syndrome">EEM syndrome</a></span></li><li><span class="TLline"><a href="/medgen/8584" ref="tree=MeSH" title="MedGen record for Ellis-van Creveld syndrome">Ellis-van Creveld syndrome</a></span></li><li><span class="TLline"><a href="/medgen/388032" ref="tree=MeSH" title="MedGen record for Epidermolysis bullosa simplex due to plakophilin deficiency">Epidermolysis bullosa simplex due to plakophilin deficiency</a></span></li><li><span class="TLline"><a href="/medgen/42055" ref="tree=MeSH" title="MedGen record for Focal dermal hypoplasia">Focal dermal hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/445408" ref="tree=MeSH" title="MedGen record for Focal facial dermal dysplasia">Focal facial dermal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/394125" ref="tree=MeSH" title="MedGen record for Fontaine progeroid syndrome">Fontaine progeroid syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98034" ref="tree=MeSH" title="MedGen record for GAPO syndrome">GAPO syndrome</a></span></li><li><span class="TLline"><a href="/medgen/342675" ref="tree=MeSH" title="MedGen record for Gingival fibromatosis-hypertrichosis syndrome">Gingival fibromatosis-hypertrichosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/5414" ref="tree=MeSH" title="MedGen record for Hallermann-Streiff syndrome">Hallermann-Streiff syndrome</a></span></li><li><span class="TLline"><a href="/medgen/56416" ref="tree=MeSH" title="MedGen record for Hidrotic ectodermal dysplasia syndrome">Hidrotic ectodermal dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/371322" ref="tree=MeSH" title="MedGen record for Hidrotic ectodermal dysplasia, Christianson-Fourie type">Hidrotic ectodermal dysplasia, Christianson-Fourie type</a></span></li><li><span class="TLline"><a href="/medgen/443941" ref="tree=MeSH" title="MedGen record for Hidrotic ectodermal dysplasia, Halal type">Hidrotic ectodermal dysplasia, Halal type</a></span></li><li><span class="TLline"><a href="/medgen/99140" ref="tree=MeSH" title="MedGen record for Hyperhidrosis, premature cavities and premolar aplasia">Hyperhidrosis, premature cavities and premolar aplasia</a></span></li><li><span class="TLline"><a href="/medgen/870835" ref="tree=MeSH" title="MedGen record for Hypertrichosis cubiti-short stature syndrome">Hypertrichosis cubiti-short stature syndrome</a></span></li><li><span class="TLline"><a href="/medgen/66727" ref="tree=MeSH" title="MedGen record for Hypertrichosis lanuginosa congenita">Hypertrichosis lanuginosa congenita</a></span></li><li><span class="TLline"><a href="/medgen/1853123" ref="tree=MeSH" title="MedGen record for Hypohidrotic ectodermal dysplasia">Hypohidrotic ectodermal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/384046" ref="tree=MeSH" title="MedGen record for Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome">Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/57890" ref="tree=MeSH" title="MedGen record for Hypohidrotic X-linked ectodermal dysplasia">Hypohidrotic X-linked ectodermal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/140809" ref="tree=MeSH" title="MedGen record for Hypoplastic enamel-onycholysis-hypohidrosis syndrome">Hypoplastic enamel-onycholysis-hypohidrosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1371854" ref="tree=MeSH" title="MedGen record for Hypotrichosis-intellectual disability, Lopes type">Hypotrichosis-intellectual disability, Lopes type</a></span></li><li><span class="TLline"><a href="/medgen/375146" ref="tree=MeSH" title="MedGen record for Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome">Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome</a></span></li><li><span class="TLline"><a href="/medgen/344577" ref="tree=MeSH" title="MedGen record for Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome">Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/7049" ref="tree=MeSH" title="MedGen record for Incontinentia pigmenti syndrome">Incontinentia pigmenti syndrome</a></span></li><li><span class="TLline"><a href="/medgen/59798" ref="tree=MeSH" title="MedGen record for Johanson-Blizzard syndrome">Johanson-Blizzard syndrome</a></span></li><li><span class="TLline"><a href="/medgen/167092" ref="tree=MeSH" title="MedGen record for Johnson neuroectodermal syndrome">Johnson neuroectodermal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/777082" ref="tree=MeSH" title="MedGen record for Keratitis ichthyosis and deafness syndrome">Keratitis ichthyosis and deafness syndrome</a></span></li><li><span class="TLline"><a href="/medgen/334042" ref="tree=MeSH" title="MedGen record for Lelis syndrome">Lelis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/383698" ref="tree=MeSH" title="MedGen record for Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome">Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1806249" ref="tree=MeSH" title="MedGen record for Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies">Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies</a></span></li><li><span class="TLline"><a href="/medgen/82694" ref="tree=MeSH" title="MedGen record for Marshall syndrome">Marshall syndrome</a></span></li><li><span class="TLline"><a href="/medgen/67398" ref="tree=MeSH" title="MedGen record for Metaphyseal chondrodysplasia, McKusick type">Metaphyseal chondrodysplasia, McKusick type</a></span></li><li><span class="TLline"><a href="/medgen/91010" ref="tree=MeSH" title="MedGen record for Naegeli-Franceschetti-Jadassohn syndrome">Naegeli-Franceschetti-Jadassohn syndrome</a></span></li><li><span class="TLline"><a href="/medgen/863424" ref="tree=MeSH" title="MedGen record for Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome">Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82706" ref="tree=MeSH" title="MedGen record for Neurocutaneous syndrome">Neurocutaneous syndrome</a></span></li><li><span class="TLline"><a href="/medgen/167236" ref="tree=MeSH" title="MedGen record for Oculodentodigital dysplasia">Oculodentodigital dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/347867" ref="tree=MeSH" title="MedGen record for Oculoosteocutaneous syndrome">Oculoosteocutaneous syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340517" ref="tree=MeSH" title="MedGen record for Oculotrichodysplasia">Oculotrichodysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1648007" ref="tree=MeSH" title="MedGen record for Odonto-onycho dysplasia-alopecia syndrome">Odonto-onycho dysplasia-alopecia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/208666" ref="tree=MeSH" title="MedGen record for Odonto-onycho-dermal dysplasia">Odonto-onycho-dermal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/400891" ref="tree=MeSH" title="MedGen record for Odonto-tricho-ungual-digito-palmar syndrome">Odonto-tricho-ungual-digito-palmar syndrome</a></span></li><li><span class="TLline"><a href="/medgen/443944" ref="tree=MeSH" title="MedGen record for Odontotrichomelic syndrome">Odontotrichomelic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/307142" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome I">Orofaciodigital syndrome I</a></span></li><li><span class="TLline"><a href="/medgen/78556" ref="tree=MeSH" title="MedGen record for Pachyonychia congenita syndrome">Pachyonychia congenita syndrome</a></span></li><li><span class="TLline"><a href="/medgen/45306" ref="tree=MeSH" title="MedGen record for Papillon-Lefèvre syndrome">Papillon-Lefèvre syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1807813" ref="tree=MeSH" title="MedGen record for Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome">Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419090" ref="tree=MeSH" title="MedGen record for Pili torti-onychodysplasia syndrome">Pili torti-onychodysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/376661" ref="tree=MeSH" title="MedGen record for Pilodental dysplasia-refractive errors syndrome">Pilodental dysplasia-refractive errors syndrome</a></span></li><li><span class="TLline"><a href="/medgen/978375" ref="tree=MeSH" title="MedGen record for Pure hair and nail ectodermal dysplasia">Pure hair and nail ectodermal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/357183" ref="tree=MeSH" title="MedGen record for Scalp-ear-nipple syndrome">Scalp-ear-nipple syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347366" ref="tree=MeSH" title="MedGen record for SchC6pf-Schulz-Passarge syndrome">SchC6pf-Schulz-Passarge syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120517" ref="tree=MeSH" title="MedGen record for Schinzel-Giedion syndrome">Schinzel-Giedion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/342260" ref="tree=MeSH" title="MedGen record for Stern-Lubinsky-Durrie syndrome">Stern-Lubinsky-Durrie syndrome</a></span></li><li><span class="TLline"><a href="/medgen/376472" ref="tree=MeSH" title="MedGen record for Teebi-Shaltout syndrome">Teebi-Shaltout syndrome</a></span></li><li><span class="TLline"><a href="/medgen/348284" ref="tree=MeSH" title="MedGen record for Thumb deformity-alopecia-pigmentation anomaly syndrome">Thumb deformity-alopecia-pigmentation anomaly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/333068" ref="tree=MeSH" title="MedGen record for Toriello-Lacassie-Droste syndrome">Toriello-Lacassie-Droste syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78555" ref="tree=MeSH" title="MedGen record for Tricho-dento-osseous syndrome">Tricho-dento-osseous syndrome</a></span></li><li><span class="TLline"><a href="/medgen/96068" ref="tree=MeSH" title="MedGen record for Trichodental syndrome">Trichodental syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419092" ref="tree=MeSH" title="MedGen record for Trichodermodysplasia-dental alterations syndrome">Trichodermodysplasia-dental alterations syndrome</a></span></li><li><span class="TLline"><a href="/medgen/930013" ref="tree=MeSH" title="MedGen record for Trichodysplasia-amelogenesis imperfecta syndrome">Trichodysplasia-amelogenesis imperfecta syndrome</a></span></li><li><span class="TLline"><a href="/medgen/338532" ref="tree=MeSH" title="MedGen record for Trichomegaly-retina pigmentary degeneration-dwarfism syndrome">Trichomegaly-retina pigmentary degeneration-dwarfism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/481087" ref="tree=MeSH" title="MedGen record for Trichoodontoonychial dysplasia">Trichoodontoonychial dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/363064" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy">Trichothiodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/348658" ref="tree=MeSH" title="MedGen record for Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome">Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/375148" ref="tree=MeSH" title="MedGen record for Woolly hair-skin fragility syndrome">Woolly hair-skin fragility syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/41720" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome">Ehlers-Danlos syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/78662" ref="tree=MeSH" title="MedGen record for Arthrochalasia Ehlers-Danlos syndrome">Arthrochalasia Ehlers-Danlos syndrome</a></span></li><li><span class="TLline"><a href="/medgen/907426" ref="tree=MeSH" title="MedGen record for Bethlem myopathy 2">Bethlem myopathy 2</a></span></li><li><span class="TLline"><a href="/medgen/946156" ref="tree=MeSH" title="MedGen record for Brittle cornea syndrome">Brittle cornea syndrome</a></span></li><li><span class="TLline"><a href="/medgen/336244" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome due to tenascin-X deficiency">Ehlers-Danlos syndrome due to tenascin-X deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1841549" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome progeroid type">Ehlers-Danlos syndrome progeroid type</a></span></li><li><span class="TLline"><a href="/medgen/1645042" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, arthrochalasia type">Ehlers-Danlos syndrome, arthrochalasia type</a></span></li><li><span class="TLline"><a href="/medgen/929458" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, cardiac valvular type">Ehlers-Danlos syndrome, cardiac valvular type</a></span></li><li><span class="TLline"><a href="/medgen/909864" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, classic type">Ehlers-Danlos syndrome, classic type</a></span></li><li><span class="TLline"><a href="/medgen/78660" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, classic type, 1">Ehlers-Danlos syndrome, classic type, 1</a></span></li><li><span class="TLline"><a href="/medgen/120628" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, classic type, 2">Ehlers-Danlos syndrome, classic type, 2</a></span></li><li><span class="TLline"><a href="/medgen/1632001" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, classic-like, 2">Ehlers-Danlos syndrome, classic-like, 2</a></span></li><li><span class="TLline"><a href="/medgen/397792" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, dermatosparaxis type">Ehlers-Danlos syndrome, dermatosparaxis type</a></span></li><li><span class="TLline"><a href="/medgen/75672" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, kyphoscoliotic type 1">Ehlers-Danlos syndrome, kyphoscoliotic type 1</a></span></li><li><span class="TLline"><a href="/medgen/356497" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, musculocontractural type">Ehlers-Danlos syndrome, musculocontractural type</a></span></li><li><span class="TLline"><a href="/medgen/82791" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, periodontitis type">Ehlers-Danlos syndrome, periodontitis type</a></span></li><li><span class="TLline"><a href="/medgen/75670" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, type 3">Ehlers-Danlos syndrome, type 3</a></span></li><li><span class="TLline"><a href="/medgen/82790" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, type 4">Ehlers-Danlos syndrome, type 4</a></span></li><li><span class="TLline"><a href="/medgen/1639430" ref="tree=MeSH" title="MedGen record for Kyphoscoliotic Ehlers-Danlos syndrome">Kyphoscoliotic Ehlers-Danlos syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1814455" ref="tree=MeSH" title="MedGen record for Spondylodysplastic Ehlers-Danlos syndrome">Spondylodysplastic Ehlers-Danlos syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75671" ref="tree=MeSH" title="MedGen record for X-linked Ehlers-Danlos syndrome">X-linked Ehlers-Danlos syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/41832" ref="tree=MeSH" title="MedGen record for Epidermolysis bullosa">Epidermolysis bullosa</a></span><ul><li><span class="TLline"><a href="/medgen/37178" ref="tree=MeSH" title="MedGen record for Acquired epidermolysis bullosa">Acquired epidermolysis bullosa</a></span></li><li><span class="TLline"><a href="/medgen/37179" ref="tree=MeSH" title="MedGen record for Epidermolysis bullosa dystrophica">Epidermolysis bullosa dystrophica</a></span></li><li><span class="TLline"><a href="/medgen/86896" ref="tree=MeSH" title="MedGen record for Epidermolysis bullosa simplex">Epidermolysis bullosa simplex</a></span></li><li><span class="TLline"><a href="/medgen/86898" ref="tree=MeSH" title="MedGen record for Junctional epidermolysis bullosa">Junctional epidermolysis bullosa</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/20779" ref="tree=MeSH" title="MedGen record for Genodermatosis">Genodermatosis</a></span><ul><li><span class="TLline"><a href="/medgen/182" ref="tree=MeSH" title="MedGen record for Albinism">Albinism</a></span></li><li><span class="TLline"><a href="/medgen/41502" ref="tree=MeSH" title="MedGen record for Atopic eczema">Atopic eczema</a></span></li><li><span class="TLline"><a href="/medgen/108185" ref="tree=MeSH" title="MedGen record for Beaded hair">Beaded hair</a></span></li><li><span class="TLline"><a href="/medgen/86936" ref="tree=MeSH" title="MedGen record for Congenital ichthyosiform erythroderma">Congenital ichthyosiform erythroderma</a></span></li><li><span class="TLline"><a href="/medgen/8206" ref="tree=MeSH" title="MedGen record for Cutis laxa">Cutis laxa</a></span></li><li><span class="TLline"><a href="/medgen/75587" ref="tree=MeSH" title="MedGen record for Erythrokeratodermia variabilis">Erythrokeratodermia variabilis</a></span></li><li><span class="TLline"><a href="/medgen/102408" ref="tree=MeSH" title="MedGen record for Erythropoietic porphyria">Erythropoietic porphyria</a></span></li><li><span class="TLline"><a href="/medgen/43100" ref="tree=MeSH" title="MedGen record for Familial benign pemphigus">Familial benign pemphigus</a></span></li><li><span class="TLline"><a href="/medgen/58119" ref="tree=MeSH" title="MedGen record for Hepatic porphyria">Hepatic porphyria</a></span></li><li><span class="TLline"><a href="/medgen/199651" ref="tree=MeSH" title="MedGen record for Hereditary periodic fever syndrome">Hereditary periodic fever syndrome</a></span></li><li><span class="TLline"><a href="/medgen/7002" ref="tree=MeSH" title="MedGen record for Ichthyosis">Ichthyosis</a></span></li><li><span class="TLline"><a href="/medgen/98153" ref="tree=MeSH" title="MedGen record for Ichthyosis bullosa of Siemens">Ichthyosis bullosa of Siemens</a></span></li><li><span class="TLline"><a href="/medgen/78578" ref="tree=MeSH" title="MedGen record for Ichthyosis linearis circumflexa">Ichthyosis linearis circumflexa</a></span></li><li><span class="TLline"><a href="/medgen/38217" ref="tree=MeSH" title="MedGen record for Ichthyosis vulgaris">Ichthyosis vulgaris</a></span></li><li><span class="TLline"><a href="/medgen/411197" ref="tree=MeSH" title="MedGen record for Juvenile hyaline fibromatosis">Juvenile hyaline fibromatosis</a></span></li><li><span class="TLline"><a href="/medgen/5956" ref="tree=MeSH" title="MedGen record for Keratosis follicularis">Keratosis follicularis</a></span></li><li><span class="TLline"><a href="/medgen/6112" ref="tree=MeSH" title="MedGen record for Lipid proteinosis">Lipid proteinosis</a></span></li><li><span class="TLline"><a href="/medgen/231157" ref="tree=MeSH" title="MedGen record for Muir-Torré syndrome">Muir-Torré syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1635750" ref="tree=MeSH" title="MedGen record for Palmoplantar keratoderma">Palmoplantar keratoderma</a></span></li><li><span class="TLline"><a href="/medgen/56518" ref="tree=MeSH" title="MedGen record for Porokeratosis">Porokeratosis</a></span></li><li><span class="TLline"><a href="/medgen/120647" ref="tree=MeSH" title="MedGen record for Prolidase deficiency">Prolidase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/18733" ref="tree=MeSH" title="MedGen record for Pseudoxanthoma elasticum">Pseudoxanthoma elasticum</a></span></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/11443" ref="tree=MeSH" title="MedGen record for Sjögren-Larsson syndrome">Sjögren-Larsson syndrome</a></span></li><li><span class="TLline"><a href="/medgen/328433" ref="tree=MeSH" title="MedGen record for White sponge nevus">White sponge nevus</a></span></li><li><span class="TLline"><a href="/medgen/86937" ref="tree=MeSH" title="MedGen record for X-linked ichthyosis with steryl-sulfatase deficiency">X-linked ichthyosis with steryl-sulfatase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/21943" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum">Xeroderma pigmentosum</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/65911" ref="tree=MeSH" title="MedGen record for Nevus flammeus">Nevus flammeus</a></span><ul><li><span class="TLline"><a href="/medgen/340225" ref="tree=MeSH" title="MedGen record for Naevus flammeus of the eyelid">Naevus flammeus of the eyelid</a></span></li><li><span class="TLline"><a href="/medgen/870384" ref="tree=MeSH" title="MedGen record for Nevus flammeus nuchae">Nevus flammeus nuchae</a></span></li><li><span class="TLline"><a href="/medgen/376454" ref="tree=MeSH" title="MedGen record for Nevus flammeus of the forehead">Nevus flammeus of the forehead</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/20677" ref="tree=MeSH" title="MedGen record for Sclerema neonatorum">Sclerema neonatorum</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/473237" ref="tree=MeSH" title="MedGen record for Congenital Digestive System Disorder">Congenital Digestive System Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/56211" ref="tree=MeSH" title="MedGen record for Annular pancreas">Annular pancreas</a></span></li><li><span class="TLline"><a href="/medgen/14117" ref="tree=MeSH" title="MedGen record for Biliary atresia">Biliary atresia</a></span><ul><li><span class="TLline"><a href="/medgen/1621383" ref="tree=MeSH" title="MedGen record for Extrahepatic biliary atresia">Extrahepatic biliary atresia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/476117" ref="tree=MeSH" title="MedGen record for Congenital Abnormality of the Large Intestine">Congenital Abnormality of the Large Intestine</a></span></li><li><span class="TLline"><a href="/medgen/40449" ref="tree=MeSH" title="MedGen record for Congenital hepatic fibrosis">Congenital hepatic fibrosis</a></span></li><li><span class="TLline"><a href="/medgen/388754" ref="tree=MeSH" title="MedGen record for Ductal Plate Malformation">Ductal Plate Malformation</a></span></li><li><span class="TLline"><a href="/medgen/4545" ref="tree=MeSH" title="MedGen record for Esophageal atresia">Esophageal atresia</a></span><ul><li><span class="TLline"><a href="/medgen/870865" ref="tree=MeSH" title="MedGen record for Proximal esophageal atresia">Proximal esophageal atresia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/539705" ref="tree=MeSH" title="MedGen record for Esophageal duplication">Esophageal duplication</a></span></li><li><span class="TLline"><a href="/medgen/7129" ref="tree=MeSH" title="MedGen record for Intestinal atresia">Intestinal atresia</a></span><ul><li><span class="TLline"><a href="/medgen/78590" ref="tree=MeSH" title="MedGen record for Atresia of small intestine">Atresia of small intestine</a></span></li><li><span class="TLline"><a href="/medgen/75605" ref="tree=MeSH" title="MedGen record for Congenital atresia of colon">Congenital atresia of colon</a></span></li><li><span class="TLline"><a href="/medgen/576815" ref="tree=MeSH" title="MedGen record for Congenital atresia of large intestine">Congenital atresia of large intestine</a></span></li><li><span class="TLline"><a href="/medgen/75602" ref="tree=MeSH" title="MedGen record for Duodenal atresia">Duodenal atresia</a></span></li><li><span class="TLline"><a href="/medgen/451021" ref="tree=MeSH" title="MedGen record for Ileal atresia">Ileal atresia</a></span></li><li><span class="TLline"><a href="/medgen/75603" ref="tree=MeSH" title="MedGen record for Jejunal atresia">Jejunal atresia</a></span></li><li><span class="TLline"><a href="/medgen/387830" ref="tree=MeSH" title="MedGen record for Multiple small bowel atresias">Multiple small bowel atresias</a></span></li><li><span class="TLline"><a href="/medgen/473199" ref="tree=MeSH" title="MedGen record for Rectal atresia">Rectal atresia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/539729" ref="tree=MeSH" title="MedGen record for Intestinal duplication">Intestinal duplication</a></span><ul><li><span class="TLline"><a href="/medgen/376760" ref="tree=MeSH" title="MedGen record for Duplicated colon">Duplicated colon</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/113153" ref="tree=MeSH" title="MedGen record for Intestinal malrotation">Intestinal malrotation</a></span><ul><li><span class="TLline"><a href="/medgen/82733" ref="tree=MeSH" title="MedGen record for Malrotation of colon">Malrotation of colon</a></span></li><li><span class="TLline"><a href="/medgen/395442" ref="tree=MeSH" title="MedGen record for Malrotation of small bowel">Malrotation of small bowel</a></span></li><li><span class="TLline"><a href="/medgen/342335" ref="tree=MeSH" title="MedGen record for Midgut malrotation">Midgut malrotation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/473082" ref="tree=MeSH" title="MedGen record for Low anorectal malformation">Low anorectal malformation</a></span></li><li><span class="TLline"><a href="/medgen/82734" ref="tree=MeSH" title="MedGen record for Microcolon">Microcolon</a></span></li><li><span class="TLline"><a href="/medgen/887240" ref="tree=MeSH" title="MedGen record for Pancreaticobiliary Malunion">Pancreaticobiliary Malunion</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/48425" ref="tree=MeSH" title="MedGen record for Congenital malformation of the respiratory system">Congenital malformation of the respiratory system</a></span><ul><li><span class="TLline"><a href="/medgen/668" ref="tree=MeSH" title="MedGen record for Bronchogenic cyst">Bronchogenic cyst</a></span></li><li><span class="TLline"><a href="/medgen/3395" ref="tree=MeSH" title="MedGen record for Choanal atresia">Choanal atresia</a></span><ul><li><span class="TLline"><a href="/medgen/870857" ref="tree=MeSH" title="MedGen record for Bilateral choanal atresia">Bilateral choanal atresia</a></span></li><li><span class="TLline"><a href="/medgen/1843076" ref="tree=MeSH" title="MedGen record for Choanal atresia, unilateral">Choanal atresia, unilateral</a></span></li><li><span class="TLline"><a href="/medgen/868769" ref="tree=MeSH" title="MedGen record for Membranous choanal atresia">Membranous choanal atresia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/472903" ref="tree=MeSH" title="MedGen record for Congenital anomaly of lung">Congenital anomaly of lung</a></span><ul><li><span class="TLline"><a href="/medgen/394267" ref="tree=MeSH" title="MedGen record for Alveolar capillary dysplasia">Alveolar capillary dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/120557" ref="tree=MeSH" title="MedGen record for Congenital lobar emphysema">Congenital lobar emphysema</a></span></li><li><span class="TLline"><a href="/medgen/8225" ref="tree=MeSH" title="MedGen record for Congenital pulmonary airway malformation">Congenital pulmonary airway malformation</a></span></li><li><span class="TLline"><a href="/medgen/340355" ref="tree=MeSH" title="MedGen record for Congenital pulmonary lymphangiectasia">Congenital pulmonary lymphangiectasia</a></span></li><li><span class="TLline"><a href="/medgen/78574" ref="tree=MeSH" title="MedGen record for Pulmonary hypoplasia">Pulmonary hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/669" ref="tree=MeSH" title="MedGen record for Pulmonary sequestration">Pulmonary sequestration</a></span></li><li><span class="TLline"><a href="/medgen/576694" ref="tree=MeSH" title="MedGen record for Pulmonary trunk hypoplasia">Pulmonary trunk hypoplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/11871" ref="tree=MeSH" title="MedGen record for Congenital tracheobronchomegaly">Congenital tracheobronchomegaly</a></span></li><li><span class="TLline"><a href="/medgen/7274" ref="tree=MeSH" title="MedGen record for Laryngeal stenosis">Laryngeal stenosis</a></span></li><li><span class="TLline"><a href="/medgen/452345" ref="tree=MeSH" title="MedGen record for Laryngocele">Laryngocele</a></span></li><li><span class="TLline"><a href="/medgen/82722" ref="tree=MeSH" title="MedGen record for Pulmonary agenesis">Pulmonary agenesis</a></span></li><li><span class="TLline"><a href="/medgen/20675" ref="tree=MeSH" title="MedGen record for Scimitar syndrome">Scimitar syndrome</a></span></li><li><span class="TLline"><a href="/medgen/266059" ref="tree=MeSH" title="MedGen record for Tracheal agenesis">Tracheal agenesis</a></span></li><li><span class="TLline"><a href="/medgen/75584" ref="tree=MeSH" title="MedGen record for Tracheal atresia">Tracheal atresia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/338020" ref="tree=MeSH" title="MedGen record for Exstrophy-epispadias complex">Exstrophy-epispadias complex</a></span><ul><li><span class="TLline"><a href="/medgen/83377" ref="tree=MeSH" title="MedGen record for Cloacal exstrophy">Cloacal exstrophy</a></span></li></ul></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/365892" ref="tree=MeSH" title="MedGen record for VACTERL association">VACTERL association</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
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<div class="nl"><a target="_blank" href="/pubmed/36747484">Atopic Dermatitis in Children and Adults—Diagnosis and Treatment.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Wollenberg A,
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||
Werfel T,
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||
Ring J,
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||
Ott H,
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Gieler U,
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||
Weidinger S</span><br />
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<span class="medgenPMjournal">Dtsch Arztebl Int</span>
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2023 Mar 31;120(13):224-234.
|
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doi: 10.3238/arztebl.m2023.0011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36747484" target="_blank">36747484</a><a href="/pmc/articles/PMC10277810" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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||
<div class="nl"><a target="_blank" href="/pubmed/29650544">Evaluation and Management of Right-Sided Heart Failure: A Scientific Statement From the American Heart Association.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Konstam MA,
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Kiernan MS,
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Bernstein D,
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||
Bozkurt B,
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||
Jacob M,
|
||
Kapur NK,
|
||
Kociol RD,
|
||
Lewis EF,
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||
Mehra MR,
|
||
Pagani FD,
|
||
Raval AN,
|
||
Ward C;
|
||
American Heart Association Council on Clinical Cardiology; Council on Cardiovascular Disease in the Young; and Council on Cardiovascular Surgery and Anesthesia</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
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||
2018 May 15;137(20):e578-e622.
|
||
Epub 2018 Apr 12
|
||
doi: 10.1161/CIR.0000000000000560.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29650544" target="_blank">29650544</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28550082">Primary Membranous Nephropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Couser WG</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2017 Jun 7;12(6):983-997.
|
||
Epub 2017 May 26
|
||
doi: 10.2215/CJN.11761116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28550082" target="_blank">28550082</a><a href="/pmc/articles/PMC5460716" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(congenital%20systemic%20disorder)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (270)</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/34312277">Diagnosis and Management of Hypermobility Spectrum Disorders in Primary Care.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atwell K,
|
||
Michael W,
|
||
Dubey J,
|
||
James S,
|
||
Martonffy A,
|
||
Anderson S,
|
||
Rudin N,
|
||
Schrager S</span><br />
|
||
<span class="medgenPMjournal">J Am Board Fam Med</span>
|
||
2021 Jul-Aug;34(4):838-848.
|
||
doi: 10.3122/jabfm.2021.04.200374.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34312277" target="_blank">34312277</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28390564">Systemic Lupus Erythematosus and Pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lateef A,
|
||
Petri M</span><br />
|
||
<span class="medgenPMjournal">Rheum Dis Clin North Am</span>
|
||
2017 May;43(2):215-226.
|
||
Epub 2017 Mar 14
|
||
doi: 10.1016/j.rdc.2016.12.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28390564" target="_blank">28390564</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24268009">Cardiac manifestations of systemic lupus erythematosus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miner JJ,
|
||
Kim AH</span><br />
|
||
<span class="medgenPMjournal">Rheum Dis Clin North Am</span>
|
||
2014 Feb;40(1):51-60.
|
||
doi: 10.1016/j.rdc.2013.10.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24268009" target="_blank">24268009</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16581695">Pulmonary arterial hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raiesdana A,
|
||
Loscalzo J</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/3549079">The porphyrias.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Poh-Fitzpatrick MB</span><br />
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1987 Jan;5(1):55-61.
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<div class="nl"><a target="_blank" href="/pubmed/37522317">Diagnosis and management of Abernethy syndrome.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34312277">Diagnosis and Management of Hypermobility Spectrum Disorders in Primary Care.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Atwell K,
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<div class="nl"><a target="_blank" href="/pubmed/33470961">Neonatal lupus erythematosus - practical guidelines.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Derdulska JM,
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<div class="nl"><a target="_blank" href="/pubmed/29433942">Fontan-associated Liver Disease.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17499707">Neonatal lupus syndromes.</a></div>
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Rivera TL,
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Buyon JP</span><br />
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<span class="medgenPMjournal">Rheum Dis Clin North Am</span>
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2007 May;33(2):267-85, vi.
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<span class="bold">PMID: </span><a href="/pubmed/17499707" target="_blank">17499707</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Raiesdana A,
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<span class="medgenPMjournal">Ann Med</span>
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2006;38(2):95-110.
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doi: 10.1080/07853890600622143.
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<span class="bold">PMID: </span><a href="/pubmed/16581695" target="_blank">16581695</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20Systemic%20Disorder%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1341)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37522317">Diagnosis and management of Abernethy syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Castro Rodríguez J,
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Rodríguez Perálvarez ML,
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Montero-Álvarez JL</span><br />
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<span class="medgenPMjournal">Rev Esp Enferm Dig</span>
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2024 Jan;116(1):1-6.
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doi: 10.17235/reed.2023.9781/2023.
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<span class="bold">PMID: </span><a href="/pubmed/37522317" target="_blank">37522317</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30107184">Management of Heart Failure in Adult Congenital Heart Disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Opina AD,
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Franklin WJ</span><br />
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<span class="medgenPMjournal">Prog Cardiovasc Dis</span>
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2018 Sep-Oct;61(3-4):308-313.
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<span class="bold">PMID: </span><a href="/pubmed/30107184" target="_blank">30107184</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28838364">Spontaneous Coronary Artery Dissection: Clinical Outcomes and Risk of Recurrence.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Saw J,
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Humphries K,
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Aymong E,
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<span class="bold">PMID: </span><a href="/pubmed/28838364" target="_blank">28838364</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27150171">Patent Foramen Ovale: Stroke and Device Closure.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Suradi HS,
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2016 May;34(2):231-40.
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<span class="bold">PMID: </span><a href="/pubmed/27150171" target="_blank">27150171</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Shibata A,
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<span class="bold">PMID: </span><a href="/pubmed/37634201" target="_blank">37634201</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Uriarte SM,
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Hajishengallis G</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/29472380">Spontaneous Coronary Artery Dissection: Current State of the Science: A Scientific Statement From the American Heart Association.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hayes SN,
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Kim ESH,
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Saw J,
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Arslanian-Engoren C,
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Economy KE,
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Gulati R,
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Naderi S,
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<div class="nl"><a target="_blank" href="/pubmed/24268009">Cardiac manifestations of systemic lupus erythematosus.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Miner JJ,
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<div class="portlet_content ln"><span class="medgenPMauthor">Izmirly PM,
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Rivera TL,
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Buyon JP</span><br />
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<span class="medgenPMjournal">Rheum Dis Clin North Am</span>
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2007 May;33(2):267-85, vi.
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doi: 10.1016/j.rdc.2007.02.005.
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<span class="bold">PMID: </span><a href="/pubmed/17499707" target="_blank">17499707</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20Systemic%20Disorder%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 (1236)</a></div></div>
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</div>
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||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/36779547">Systemic juvenile xanthogranuloma: A systematic review.</a></div>
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Wei A,
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Ma H,
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Lian H,
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Liu Y,
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Wang D,
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Zhao Y,
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Cui L,
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Li Z,
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Zhang R,
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Wang T</span><br />
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<span class="medgenPMjournal">Pediatr Blood Cancer</span>
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2023 May;70(5):e30232.
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Epub 2023 Feb 13
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doi: 10.1002/pbc.30232.
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<span class="bold">PMID: </span><a href="/pubmed/36779547" target="_blank">36779547</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36502352">Dental implants in growing patients: A systematic review and meta-analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Elagib MFA,
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Alqaysi MAH,
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Almushayt MOS,
|
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Nagate RR,
|
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Gokhale ST,
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Chaturvedi S</span><br />
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<span class="medgenPMjournal">Technol Health Care</span>
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2023;31(3):1051-1064.
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doi: 10.3233/THC-220581.
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<span class="bold">PMID: </span><a href="/pubmed/36502352" target="_blank">36502352</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/35713512">Risk factors for postoperative pulmonary venous obstruction after surgical repair of total anomalous pulmonary venous connection: a systemic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhang H,
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Shi G,
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Chen H</span><br />
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<span class="medgenPMjournal">Interact Cardiovasc Thorac Surg</span>
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2022 Jul 9;35(2)
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<span class="bold">PMID: </span><a href="/pubmed/35713512" target="_blank">35713512</a><a href="/pmc/articles/PMC9270848" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26700396">Reproductive outcomes following hydroxychloroquine use for autoimmune diseases: a systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kaplan YC,
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Ozsarfati J,
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<span class="medgenPMjournal">Br J Clin Pharmacol</span>
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2016 May;81(5):835-48.
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Epub 2016 Feb 16
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<span class="bold">PMID: </span><a href="/pubmed/26700396" target="_blank">26700396</a><a href="/pmc/articles/PMC4834589" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/24142583">Central nervous system manifestations of neonatal lupus: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chen CC,
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Lin KL,
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Chen CL,
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<span class="bold">PMID: </span><a href="/pubmed/24142583" target="_blank">24142583</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20Systemic%20Disorder%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 (59)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
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|
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|
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