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<meta name="keywords" content="C0000768, abnormalities, congenital, abnormality, congenital, birth defect, birth defects, cm - congenital malformation, congenital abnormalities, congenital abnormality, congenital anatomic abnormality, congenital anatomical abnormality, congenital anomaly, congenital anomaly or birth defect, congenital defect, congenital defects, congenital deformity, congenital malformation, defect, birth, defect, congenital, defects, congenital, deformities, deformity, fetal anomaly, fetal developmental abnormality, fetal malformation, foetal malformation, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=1254
ConceptID=C0000768
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Fetal anomaly</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1254</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0000768</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Congenital abnormality; congenital anomaly; Congenital malformation</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Fetal developmental abnormality (276654001); Congenital anomaly (276654001); Congenital abnormality (276654001); Foetal malformation (276654001); Congenital malformation (276654001); Fetal malformation (276654001); CM - Congenital malformation (276654001); Congenital deformity (276655000)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0034057">HP:0034057</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0000768[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1254">C</a></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">Fetal anomaly</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="matched_ds">Fetal anomaly</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/1814230" ref="tree=MeSH" title="MedGen record for Abnormal fetal morphology">Abnormal fetal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866855" ref="tree=MeSH" title="MedGen record for Abnormal fetal cardiovascular morphology">Abnormal fetal cardiovascular morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1841644" ref="tree=MeSH" title="MedGen record for Abnormal fetal heart outflow tract">Abnormal fetal heart outflow tract</a></span></li><li><span class="TLline"><a href="/medgen/1841900" ref="tree=MeSH" title="MedGen record for Abnormal four chamber view of the fetal heart">Abnormal four chamber view of the fetal heart</a></span></li><li><span class="TLline"><a href="/medgen/811050" ref="tree=MeSH" title="MedGen record for Ductus venosus agenesis">Ductus venosus agenesis</a></span></li><li><span class="TLline"><a href="/medgen/759278" ref="tree=MeSH" title="MedGen record for Fetal pericardial effusion">Fetal pericardial effusion</a></span></li><li><span class="TLline"><a href="/medgen/1814435" ref="tree=MeSH" title="MedGen record for Foramen ovale aneurysm">Foramen ovale aneurysm</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1815049" ref="tree=MeSH" title="MedGen record for Abnormal fetal central nervous system morphology">Abnormal fetal central nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1843860" ref="tree=MeSH" title="MedGen record for Absent cavum septum pellucidum">Absent cavum septum pellucidum</a></span></li><li><span class="TLline"><a href="/medgen/868951" ref="tree=MeSH" title="MedGen record for Enlarged fetal cisterna magna">Enlarged fetal cisterna magna</a></span></li><li><span class="TLline"><a href="/medgen/759279" ref="tree=MeSH" title="MedGen record for Fetal choroid plexus cysts">Fetal choroid plexus cysts</a></span></li><li><span class="TLline"><a href="/medgen/1814359" ref="tree=MeSH" title="MedGen record for Fetal intracranial hemorrhage">Fetal intracranial hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/869206" ref="tree=MeSH" title="MedGen record for Mild fetal ventriculomegaly">Mild fetal ventriculomegaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1814358" ref="tree=MeSH" title="MedGen record for Abnormal fetal gastrointestinal system morphology">Abnormal fetal gastrointestinal system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869203" ref="tree=MeSH" title="MedGen record for Absence of stomach bubble on fetal sonography">Absence of stomach bubble on fetal sonography</a></span></li><li><span class="TLline"><a href="/medgen/445312" ref="tree=MeSH" title="MedGen record for Echogenic fetal bowel">Echogenic fetal bowel</a></span></li><li><span class="TLline"><a href="/medgen/1841765" ref="tree=MeSH" title="MedGen record for Fetal abdominal cyst">Fetal abdominal cyst</a></span></li><li><span class="TLline"><a href="/medgen/226930" ref="tree=MeSH" title="MedGen record for Fetal ascites">Fetal ascites</a></span></li><li><span class="TLline"><a href="/medgen/1841608" ref="tree=MeSH" title="MedGen record for Fetal bowel dilatation">Fetal bowel dilatation</a></span></li><li><span class="TLline"><a href="/medgen/1863595" ref="tree=MeSH" title="MedGen record for Fetal oral mass">Fetal oral mass</a></span></li><li><span class="TLline"><a href="/medgen/1814389" ref="tree=MeSH" title="MedGen record for Gastric pseudomass">Gastric pseudomass</a></span></li><li><span class="TLline"><a href="/medgen/1841601" ref="tree=MeSH" title="MedGen record for Intraluminal meconium calcification">Intraluminal meconium calcification</a></span></li><li><span class="TLline"><a href="/medgen/1814191" ref="tree=MeSH" title="MedGen record for Meconium pseudocyst">Meconium pseudocyst</a></span></li><li><span class="TLline"><a href="/medgen/1813076" ref="tree=MeSH" title="MedGen record for Prenatal double bubble sign">Prenatal double bubble sign</a></span></li><li><span class="TLline"><a href="/medgen/1864322" ref="tree=MeSH" title="MedGen record for Small fetal abdominal circumference">Small fetal abdominal circumference</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1814434" ref="tree=MeSH" title="MedGen record for Abnormal fetal genitourinary system morphology">Abnormal fetal genitourinary system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1382868" ref="tree=MeSH" title="MedGen record for Female fetal virilization">Female fetal virilization</a></span></li><li><span class="TLline"><a href="/medgen/931214" ref="tree=MeSH" title="MedGen record for Fetal lower urinary tract obstruction">Fetal lower urinary tract obstruction</a></span></li><li><span class="TLline"><a href="/medgen/384527" ref="tree=MeSH" title="MedGen record for Fetal pyelectasis">Fetal pyelectasis</a></span></li><li><span class="TLline"><a href="/medgen/1814368" ref="tree=MeSH" title="MedGen record for Sonographic non-visualized fetal bladder">Sonographic non-visualized fetal bladder</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1814388" ref="tree=MeSH" title="MedGen record for Abnormal fetal pulmonary morphology">Abnormal fetal pulmonary morphology</a></span><ul><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/1863806" ref="tree=MeSH" title="MedGen record for Enlarged fetal lungs">Enlarged fetal lungs</a></span></li><li><span class="TLline"><a href="/medgen/1863680" ref="tree=MeSH" title="MedGen record for Fetal lung hyperechogenicity">Fetal lung hyperechogenicity</a></span></li><li><span class="TLline"><a href="/medgen/759277" ref="tree=MeSH" title="MedGen record for Fetal pleural effusion">Fetal pleural effusion</a></span></li><li><span class="TLline"><a href="/medgen/1864207" ref="tree=MeSH" title="MedGen record for Prenatal flattened diaphragm">Prenatal flattened diaphragm</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1813079" ref="tree=MeSH" title="MedGen record for Abnormal fetal skeletal morphology">Abnormal fetal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1814240" ref="tree=MeSH" title="MedGen record for Abnormal fetal long-bone echogenicity">Abnormal fetal long-bone echogenicity</a></span></li><li><span class="TLline"><a href="/medgen/1814211" ref="tree=MeSH" title="MedGen record for Abnormal fetal nasal bone visualization">Abnormal fetal nasal bone visualization</a></span></li><li><span class="TLline"><a href="/medgen/1814376" ref="tree=MeSH" title="MedGen record for Champagne cork sign">Champagne cork sign</a></span></li><li><span class="TLline"><a href="/medgen/868948" ref="tree=MeSH" title="MedGen record for Fetal fifth finger clinodactyly">Fetal fifth finger clinodactyly</a></span></li><li><span class="TLline"><a href="/medgen/1842024" ref="tree=MeSH" title="MedGen record for Fetal trigonocephaly">Fetal trigonocephaly</a></span></li><li><span class="TLline"><a href="/medgen/868949" ref="tree=MeSH" title="MedGen record for Hypoplasia of fetal nasal bone">Hypoplasia of fetal nasal bone</a></span></li><li><span class="TLline"><a href="/medgen/1671076" ref="tree=MeSH" title="MedGen record for Lemon sign">Lemon sign</a></span></li><li><span class="TLline"><a href="/medgen/1813080" ref="tree=MeSH" title="MedGen record for Reduced fetal femur/foot length ratio">Reduced fetal femur/foot length ratio</a></span></li><li><span class="TLline"><a href="/medgen/488932" ref="tree=MeSH" title="MedGen record for Short fetal femur length">Short fetal femur length</a></span></li><li><span class="TLline"><a href="/medgen/868950" ref="tree=MeSH" title="MedGen record for Short fetal humerus length">Short fetal humerus length</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1814219" ref="tree=MeSH" title="MedGen record for Abnormal fetal skin morphology">Abnormal fetal skin morphology</a></span><ul><li><span class="TLline"><a href="/medgen/461442" ref="tree=MeSH" title="MedGen record for Absent lanugo">Absent lanugo</a></span></li><li><span class="TLline"><a href="/medgen/1814220" ref="tree=MeSH" title="MedGen record for Caseous vernix-like desquamation">Caseous vernix-like desquamation</a></span></li><li><span class="TLline"><a href="/medgen/334143" ref="tree=MeSH" title="MedGen record for Desquamation of skin soon after birth">Desquamation of skin soon after birth</a></span></li><li><span class="TLline"><a href="/medgen/1814189" ref="tree=MeSH" title="MedGen record for Fetal skin edema">Fetal skin edema</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1814390" ref="tree=MeSH" title="MedGen record for Fetal head anomaly">Fetal head anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/1814391" ref="tree=MeSH" title="MedGen record for Fetal scalp mass">Fetal scalp mass</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1813082" ref="tree=MeSH" title="MedGen record for Fetal neck anomaly">Fetal neck anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/1814207" ref="tree=MeSH" title="MedGen record for Distended jugular lymphatic sacs">Distended jugular lymphatic sacs</a></span></li><li><span class="TLline"><a href="/medgen/181758" ref="tree=MeSH" title="MedGen record for Fetal cystic hygroma">Fetal cystic hygroma</a></span></li><li><span class="TLline"><a href="/medgen/1814387" ref="tree=MeSH" title="MedGen record for Fetal neck mass">Fetal neck mass</a></span></li><li><span class="TLline"><a href="/medgen/1814394" ref="tree=MeSH" title="MedGen record for Fetal nuchal edema">Fetal nuchal edema</a></span></li><li><span class="TLline"><a href="/medgen/869253" ref="tree=MeSH" title="MedGen record for Increased nuchal translucency">Increased nuchal translucency</a></span></li><li><span class="TLline"><a href="/medgen/324644" ref="tree=MeSH" title="MedGen record for Thickened nuchal skin fold">Thickened nuchal skin fold</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868952" ref="tree=MeSH" title="MedGen record for Fetal ultrasound soft marker">Fetal ultrasound soft marker</a></span><ul><li><span class="TLline"><a href="/medgen/869212" ref="tree=MeSH" title="MedGen record for Echogenic intracardiac focus">Echogenic intracardiac focus</a></span></li><li><span class="TLline"><a href="/medgen/278026" ref="tree=MeSH" title="MedGen record for Single umbilical artery">Single umbilical artery</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6947" ref="tree=MeSH" title="MedGen record for Hydrops fetalis">Hydrops fetalis</a></span><ul><li><span class="TLline"><a href="/medgen/105328" ref="tree=MeSH" title="MedGen record for Immune hydrops fetalis">Immune hydrops fetalis</a></span></li><li><span class="TLline"><a href="/medgen/105327" ref="tree=MeSH" title="MedGen record for Non-immune hydrops fetalis">Non-immune hydrops fetalis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1814392" ref="tree=MeSH" title="MedGen record for Increased fetal lens echogenicity">Increased fetal lens echogenicity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1814231" ref="tree=MeSH" title="MedGen record for Abnormal fetal physiology">Abnormal fetal physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1814350" ref="tree=MeSH" title="MedGen record for Abnormal fetal cardiovascular physiology">Abnormal fetal cardiovascular physiology</a></span><ul><li><span class="TLline"><a href="/medgen/869210" ref="tree=MeSH" title="MedGen record for Abnormality of ductus venosus blood flow">Abnormality of ductus venosus blood flow</a></span></li><li><span class="TLline"><a href="/medgen/1814412" ref="tree=MeSH" title="MedGen record for Decreased middle cerebral artery pulsatility index">Decreased middle cerebral artery pulsatility index</a></span></li><li><span class="TLline"><a href="/medgen/1814351" ref="tree=MeSH" title="MedGen record for Elevated fetal middle cerebral artery peak systolic velocity">Elevated fetal middle cerebral artery peak systolic velocity</a></span></li><li><span class="TLline"><a href="/medgen/452491" ref="tree=MeSH" title="MedGen record for Fetal tachycardia">Fetal tachycardia</a></span></li><li><span class="TLline"><a href="/medgen/91033" ref="tree=MeSH" title="MedGen record for Patent ductus venosus">Patent ductus venosus</a></span></li><li><span class="TLline"><a href="/medgen/45824" ref="tree=MeSH" title="MedGen record for Persistent fetal circulation syndrome">Persistent fetal circulation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/868669" ref="tree=MeSH" title="MedGen record for Persistent patent ductus venosus">Persistent patent ductus venosus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1813077" ref="tree=MeSH" title="MedGen record for Abnormal umbilical blood flow measurement">Abnormal umbilical blood flow measurement</a></span><ul><li><span class="TLline"><a href="/medgen/1814187" ref="tree=MeSH" title="MedGen record for Abnormal umbilical artery doppler waveform during pregnancy">Abnormal umbilical artery doppler waveform during pregnancy</a></span></li><li><span class="TLline"><a href="/medgen/869209" ref="tree=MeSH" title="MedGen record for Abnormality of umbilical vein blood flow">Abnormality of umbilical vein blood flow</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/748513" ref="tree=MeSH" title="MedGen record for Fetal anemia">Fetal anemia</a></span></li><li><span class="TLline"><a href="/medgen/5164" ref="tree=MeSH" title="MedGen record for Fetal distress">Fetal distress</a></span></li><li><span class="TLline"><a href="/medgen/1864319" ref="tree=MeSH" title="MedGen record for Fixed fetal extremities">Fixed fetal extremities</a></span></li><li><span class="TLline"><a href="/medgen/907547" ref="tree=MeSH" title="MedGen record for Intrauterine fetal demise of one twin after midgestation">Intrauterine fetal demise of one twin after midgestation</a></span></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/340343" ref="tree=MeSH" title="MedGen record for Prenatal movement abnormality">Prenatal movement abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/68618" ref="tree=MeSH" title="MedGen record for Decreased fetal movement">Decreased fetal movement</a></span></li><li><span class="TLline"><a href="/medgen/866900" ref="tree=MeSH" title="MedGen record for Increased fetal movement">Increased fetal movement</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/777055" ref="tree=MeSH" title="MedGen record for Twin-to-twin transfusion">Twin-to-twin transfusion</a></span><ul><li><span class="TLline"><a href="/medgen/540110" ref="tree=MeSH" title="MedGen record for Acardius">Acardius</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/35" ref="tree=MeSH" title="MedGen record for Abnormalities, Drug-Induced">Abnormalities, Drug-Induced</a></span></li><li><span class="TLline"><a href="/medgen/438147" ref="tree=MeSH" title="MedGen record for Abnormalities, Severe Teratoid">Abnormalities, Severe Teratoid</a></span><ul><li><span class="TLline"><a href="/medgen/8068" ref="tree=MeSH" title="MedGen record for Anencephaly">Anencephaly</a></span><ul><li><span class="TLline"><a href="/medgen/6937" ref="tree=MeSH" title="MedGen record for Hydranencephaly">Hydranencephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/52901" ref="tree=MeSH" title="MedGen record for Conjoined twins">Conjoined twins</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/116727" ref="tree=MeSH" title="MedGen record for Abnormality of the cardiovascular system">Abnormality of the cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/1384257" ref="tree=MeSH" title="MedGen record for Abnormal cardiac test">Abnormal cardiac test</a></span><ul><li><span class="TLline"><a href="/medgen/1379094" ref="tree=MeSH" title="MedGen record for Abnormal cardiac biomarker test">Abnormal cardiac biomarker test</a></span></li><li><span class="TLline"><a href="/medgen/1371237" ref="tree=MeSH" title="MedGen record for Abnormal cardiac catheterization">Abnormal cardiac catheterization</a></span></li><li><span class="TLline"><a href="/medgen/1382540" ref="tree=MeSH" title="MedGen record for Abnormal cardiac exercise stress test">Abnormal cardiac exercise stress test</a></span></li><li><span class="TLline"><a href="/medgen/1377053" ref="tree=MeSH" title="MedGen record for Abnormal cardiac MRI">Abnormal cardiac MRI</a></span></li><li><span class="TLline"><a href="/medgen/1372860" ref="tree=MeSH" title="MedGen record for Abnormal resting energy expenditure from metabolic cart test">Abnormal resting energy expenditure from metabolic cart test</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892473" ref="tree=MeSH" title="MedGen record for Abnormal cardiovascular system morphology">Abnormal cardiovascular system morphology</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/927608" ref="tree=MeSH" title="MedGen record for Abnormal vascular morphology">Abnormal vascular morphology</a></span></li><li><span class="TLline"><a href="/medgen/868723" ref="tree=MeSH" title="MedGen record for Cardiovascular calcification">Cardiovascular calcification</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869166" ref="tree=MeSH" title="MedGen record for Abnormal cardiovascular system physiology">Abnormal cardiovascular system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1381915" ref="tree=MeSH" title="MedGen record for Abnormal cardiac atrial physiology">Abnormal cardiac atrial physiology</a></span></li><li><span class="TLline"><a href="/medgen/906971" ref="tree=MeSH" title="MedGen record for Abnormal cardiac ventricular function">Abnormal cardiac ventricular function</a></span></li><li><span class="TLline"><a href="/medgen/661304" ref="tree=MeSH" title="MedGen record for Abnormal heart sound">Abnormal heart sound</a></span></li><li><span class="TLline"><a href="/medgen/1632330" ref="tree=MeSH" title="MedGen record for Abnormal heart valve physiology">Abnormal heart valve physiology</a></span></li><li><span class="TLline"><a href="/medgen/1393355" ref="tree=MeSH" title="MedGen record for Abnormal systemic blood pressure">Abnormal systemic blood pressure</a></span></li><li><span class="TLline"><a href="/medgen/868211" ref="tree=MeSH" title="MedGen record for Abnormal vascular physiology">Abnormal vascular physiology</a></span></li><li><span class="TLline"><a href="/medgen/893124" ref="tree=MeSH" title="MedGen record for Abnormality of blood circulation">Abnormality of blood circulation</a></span></li><li><span class="TLline"><a href="/medgen/1393551" ref="tree=MeSH" title="MedGen record for Abnormality of cardiovascular system electrophysiology">Abnormality of cardiovascular system electrophysiology</a></span></li><li><span class="TLline"><a href="/medgen/215295" ref="tree=MeSH" title="MedGen record for Acute coronary syndrome">Acute coronary syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1929" ref="tree=MeSH" title="MedGen record for Angina pectoris">Angina pectoris</a></span></li><li><span class="TLline"><a href="/medgen/40108" ref="tree=MeSH" title="MedGen record for Cardiac tamponade">Cardiac tamponade</a></span></li><li><span class="TLline"><a href="/medgen/745001" ref="tree=MeSH" title="MedGen record for Chronotropic incompetence">Chronotropic incompetence</a></span></li><li><span class="TLline"><a href="/medgen/9169" ref="tree=MeSH" title="MedGen record for Congestive heart failure">Congestive heart failure</a></span></li><li><span class="TLline"><a href="/medgen/1864272" ref="tree=MeSH" title="MedGen record for Failure to elevate ammonia on ischemic exercise">Failure to elevate ammonia on ischemic exercise</a></span></li><li><span class="TLline"><a href="/medgen/1863547" ref="tree=MeSH" title="MedGen record for Failure to increase oxygen saturation on hyperoxia test">Failure to increase oxygen saturation on hyperoxia test</a></span></li><li><span class="TLline"><a href="/medgen/148578" ref="tree=MeSH" title="MedGen record for Presyncope">Presyncope</a></span></li><li><span class="TLline"><a href="/medgen/870560" ref="tree=MeSH" title="MedGen record for Reduced systolic function">Reduced systolic function</a></span></li><li><span class="TLline"><a href="/medgen/20738" ref="tree=MeSH" title="MedGen record for Shock">Shock</a></span></li><li><span class="TLline"><a href="/medgen/21443" ref="tree=MeSH" title="MedGen record for Syncope">Syncope</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66032" ref="tree=MeSH" title="MedGen record for Abnormality of the vasculature">Abnormality of the vasculature</a></span><ul><li><span class="TLline"><a href="/medgen/870814" ref="tree=MeSH" title="MedGen record for Abnormality of the pulmonary vasculature">Abnormality of the pulmonary vasculature</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/56387" ref="tree=MeSH" title="MedGen record for Vascular malformation">Vascular malformation</a></span><ul><li><span class="TLline"><a href="/medgen/13914" ref="tree=MeSH" title="MedGen record for Arterio-Arterial Fistula">Arterio-Arterial Fistula</a></span></li><li><span class="TLline"><a href="/medgen/2042" ref="tree=MeSH" title="MedGen record for Arteriovenous malformation">Arteriovenous malformation</a></span></li><li><span class="TLline"><a href="/medgen/349361" ref="tree=MeSH" title="MedGen record for Celiac artery stenosis from compression by median arcuate ligament of diaphragm">Celiac artery stenosis from compression by median arcuate ligament of diaphragm</a></span></li><li><span class="TLline"><a href="/medgen/52657" ref="tree=MeSH" title="MedGen record for Hereditary hemorrhagic telangiectasia">Hereditary hemorrhagic telangiectasia</a></span></li><li><span class="TLline"><a href="/medgen/473753" ref="tree=MeSH" title="MedGen record for May-Thurner syndrome">May-Thurner syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75586" ref="tree=MeSH" title="MedGen record for Persistent left superior vena cava">Persistent left superior vena cava</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/20675" ref="tree=MeSH" title="MedGen record for Scimitar syndrome">Scimitar syndrome</a></span></li><li><span class="TLline"><a href="/medgen/42588" ref="tree=MeSH" title="MedGen record for Vascular Fistula">Vascular Fistula</a></span></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></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></ul></li><li><span class="TLline"><a href="/medgen/78584" ref="tree=MeSH" title="MedGen record for Abnormality of the digestive system">Abnormality of the digestive system</a></span><ul><li><span class="TLline"><a href="/medgen/866551" ref="tree=MeSH" title="MedGen record for Abnormal abdomen morphology">Abnormal abdomen morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1708320" ref="tree=MeSH" title="MedGen record for Abdominal adhesions">Abdominal adhesions</a></span></li><li><span class="TLline"><a href="/medgen/1368542" ref="tree=MeSH" title="MedGen record for Abdominal aseptic abscess">Abdominal aseptic abscess</a></span></li><li><span class="TLline"><a href="/medgen/1675" ref="tree=MeSH" title="MedGen record for Abdominal mass">Abdominal mass</a></span></li><li><span class="TLline"><a href="/medgen/870777" ref="tree=MeSH" title="MedGen record for Abdominal organ duplication">Abdominal organ duplication</a></span></li><li><span class="TLline"><a href="/medgen/416" ref="tree=MeSH" title="MedGen record for Ascites">Ascites</a></span></li><li><span class="TLline"><a href="/medgen/196651" ref="tree=MeSH" title="MedGen record for Flank mass">Flank mass</a></span></li><li><span class="TLline"><a href="/medgen/578346" ref="tree=MeSH" title="MedGen record for Pelvic mass">Pelvic mass</a></span></li><li><span class="TLline"><a href="/medgen/209090" ref="tree=MeSH" title="MedGen record for Pelvic organ prolapse">Pelvic organ prolapse</a></span></li><li><span class="TLline"><a href="/medgen/22659" ref="tree=MeSH" title="MedGen record for Visceromegaly">Visceromegaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/927600" ref="tree=MeSH" title="MedGen record for Abnormal digestive system morphology">Abnormal digestive system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1841729" ref="tree=MeSH" title="MedGen record for Abnormal anus morphology">Abnormal anus morphology</a></span></li><li><span class="TLline"><a href="/medgen/866726" ref="tree=MeSH" title="MedGen record for Abnormal gastrointestinal tract morphology">Abnormal gastrointestinal tract morphology</a></span></li><li><span class="TLline"><a href="/medgen/702847" ref="tree=MeSH" title="MedGen record for Abnormal stool composition">Abnormal stool composition</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/927601" ref="tree=MeSH" title="MedGen record for Abnormality of digestive system physiology">Abnormality of digestive system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/488929" ref="tree=MeSH" title="MedGen record for Abdominal symptom">Abdominal symptom</a></span></li><li><span class="TLline"><a href="/medgen/1841846" ref="tree=MeSH" title="MedGen record for Abnormal anus physiology">Abnormal anus physiology</a></span></li><li><span class="TLline"><a href="/medgen/868372" ref="tree=MeSH" title="MedGen record for Abnormal large intestine physiology">Abnormal large intestine physiology</a></span></li><li><span class="TLline"><a href="/medgen/1368531" ref="tree=MeSH" title="MedGen record for Abnormality of hepatobiliary system physiology">Abnormality of hepatobiliary system physiology</a></span></li><li><span class="TLline"><a href="/medgen/1369130" ref="tree=MeSH" title="MedGen record for Dependency on intravenous nutrition">Dependency on intravenous nutrition</a></span></li><li><span class="TLline"><a href="/medgen/1864256" ref="tree=MeSH" title="MedGen record for Elevated serum-ascites albumin gradient (SAAG)">Elevated serum-ascites albumin gradient (SAAG)</a></span></li><li><span class="TLline"><a href="/medgen/868361" ref="tree=MeSH" title="MedGen record for Functional abnormality of the gastrointestinal tract">Functional abnormality of the gastrointestinal tract</a></span></li><li><span class="TLline"><a href="/medgen/101809" ref="tree=MeSH" title="MedGen record for Gastroparesis">Gastroparesis</a></span></li><li><span class="TLline"><a href="/medgen/811453" ref="tree=MeSH" title="MedGen record for Malabsorption">Malabsorption</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867396" ref="tree=MeSH" title="MedGen record for Abnormality of the abdominal organs">Abnormality of the abdominal organs</a></span><ul><li><span class="TLline"><a href="/medgen/927581" ref="tree=MeSH" title="MedGen record for Abnormal mesentery morphology">Abnormal mesentery morphology</a></span></li><li><span class="TLline"><a href="/medgen/871219" ref="tree=MeSH" title="MedGen record for Abnormal peritoneum morphology">Abnormal peritoneum morphology</a></span></li><li><span class="TLline"><a href="/medgen/893061" ref="tree=MeSH" title="MedGen record for Abnormality of the liver">Abnormality of the liver</a></span></li><li><span class="TLline"><a href="/medgen/892541" ref="tree=MeSH" title="MedGen record for Abnormality of the pancreas">Abnormality of the pancreas</a></span></li><li><span class="TLline"><a href="/medgen/540947" ref="tree=MeSH" title="MedGen record for Retroperitoneal mass">Retroperitoneal mass</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867301" ref="tree=MeSH" title="MedGen record for Abnormality of the abdominal wall">Abnormality of the abdominal wall</a></span><ul><li><span class="TLline"><a href="/medgen/68671" ref="tree=MeSH" title="MedGen record for Abdominal wall defect">Abdominal wall defect</a></span></li><li><span class="TLline"><a href="/medgen/1381410" ref="tree=MeSH" title="MedGen record for Abdominal wall mass">Abdominal wall mass</a></span></li><li><span class="TLline"><a href="/medgen/340299" ref="tree=MeSH" title="MedGen record for Abnormal umbilicus morphology">Abnormal umbilicus morphology</a></span></li><li><span class="TLline"><a href="/medgen/488777" ref="tree=MeSH" title="MedGen record for Exstrophy">Exstrophy</a></span></li><li><span class="TLline"><a href="/medgen/18718" ref="tree=MeSH" title="MedGen record for Prune belly syndrome">Prune belly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/862315" ref="tree=MeSH" title="MedGen record for Redundant umbilical skin">Redundant umbilical skin</a></span></li><li><span class="TLline"><a href="/medgen/635132" ref="tree=MeSH" title="MedGen record for Swelling of inguinal region">Swelling of inguinal region</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870868" ref="tree=MeSH" title="MedGen record for Abnormality of the anus">Abnormality of the anus</a></span></li><li><span class="TLline"><a href="/medgen/892790" ref="tree=MeSH" title="MedGen record for Abnormality of the gastrointestinal tract">Abnormality of the gastrointestinal tract</a></span></li><li><span class="TLline"><a href="/medgen/5559" ref="tree=MeSH" title="MedGen record for Aganglionic megacolon">Aganglionic megacolon</a></span><ul><li><span class="TLline"><a href="/medgen/83378" ref="tree=MeSH" title="MedGen record for Aganglionosis, total intestinal">Aganglionosis, total intestinal</a></span></li><li><span class="TLline"><a href="/medgen/462587" ref="tree=MeSH" title="MedGen record for Hirschsprung disease, cardiac defects, and autonomic dysfunction">Hirschsprung disease, cardiac defects, and autonomic dysfunction</a></span></li><li><span class="TLline"><a href="/medgen/854827" ref="tree=MeSH" title="MedGen record for Hirschsprung disease, susceptibility to, 1">Hirschsprung disease, susceptibility to, 1</a></span></li><li><span class="TLline"><a href="/medgen/374002" ref="tree=MeSH" title="MedGen record for Hirschsprung disease, susceptibility to, 2">Hirschsprung disease, susceptibility to, 2</a></span></li><li><span class="TLline"><a href="/medgen/462324" ref="tree=MeSH" title="MedGen record for Hirschsprung disease, susceptibility to, 3">Hirschsprung disease, susceptibility to, 3</a></span></li><li><span class="TLline"><a href="/medgen/462325" ref="tree=MeSH" title="MedGen record for Hirschsprung disease, susceptibility to, 4">Hirschsprung disease, susceptibility to, 4</a></span></li><li><span class="TLline"><a href="/medgen/410137" ref="tree=MeSH" title="MedGen record for Hirschsprung disease, susceptibility to, 5">Hirschsprung disease, susceptibility to, 5</a></span></li><li><span class="TLline"><a href="/medgen/369600" ref="tree=MeSH" title="MedGen record for Hirschsprung disease, susceptibility to, 6">Hirschsprung disease, susceptibility to, 6</a></span></li><li><span class="TLline"><a href="/medgen/370761" ref="tree=MeSH" title="MedGen record for Hirschsprung disease, susceptibility to, 7">Hirschsprung disease, susceptibility to, 7</a></span></li><li><span class="TLline"><a href="/medgen/409841" ref="tree=MeSH" title="MedGen record for Hirschsprung disease, susceptibility to, 8">Hirschsprung disease, susceptibility to, 8</a></span></li><li><span class="TLline"><a href="/medgen/369866" ref="tree=MeSH" title="MedGen record for Hirschsprung disease, susceptibility to, 9">Hirschsprung disease, susceptibility to, 9</a></span></li><li><span class="TLline"><a href="/medgen/869013" ref="tree=MeSH" title="MedGen record for Long-segment aganglionic megacolon">Long-segment aganglionic megacolon</a></span></li><li><span class="TLline"><a href="/medgen/576836" ref="tree=MeSH" title="MedGen record for Short segment Hirschsprung disease">Short segment Hirschsprung disease</a></span></li><li><span class="TLline"><a href="/medgen/869014" ref="tree=MeSH" title="MedGen record for Short-segment aganglionic megacolon">Short-segment aganglionic megacolon</a></span></li><li><span class="TLline"><a href="/medgen/43235" ref="tree=MeSH" title="MedGen record for Total colonic aganglionosis">Total colonic aganglionosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/501217" ref="tree=MeSH" title="MedGen record for Anorectal anomaly">Anorectal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/1757949" ref="tree=MeSH" title="MedGen record for Abnormal rectum morphology">Abnormal rectum morphology</a></span></li><li><span class="TLline"><a href="/medgen/57619" ref="tree=MeSH" title="MedGen record for Anorectal stricture">Anorectal stricture</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3037" ref="tree=MeSH" title="MedGen record for Bile duct cyst">Bile duct cyst</a></span><ul><li><span class="TLline"><a href="/medgen/57924" ref="tree=MeSH" title="MedGen record for Caroli disease">Caroli disease</a></span></li></ul></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/8359" ref="tree=MeSH" title="MedGen record for Diaphragmatic eventration">Diaphragmatic eventration</a></span></li><li><span class="TLline"><a href="/medgen/8398" ref="tree=MeSH" title="MedGen record for Digestive system neoplasm">Digestive system neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/14118" ref="tree=MeSH" title="MedGen record for Biliary tract neoplasm">Biliary tract neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/4846" ref="tree=MeSH" title="MedGen record for Neoplasm of the gastrointestinal tract">Neoplasm of the gastrointestinal tract</a></span></li><li><span class="TLline"><a href="/medgen/9797" ref="tree=MeSH" title="MedGen record for Neoplasm of the liver">Neoplasm of the liver</a></span></li><li><span class="TLline"><a href="/medgen/7722" ref="tree=MeSH" title="MedGen record for Neoplasm of the oral cavity">Neoplasm of the oral cavity</a></span></li><li><span class="TLline"><a href="/medgen/18279" ref="tree=MeSH" title="MedGen record for Neoplasm of the pancreas">Neoplasm of the pancreas</a></span></li><li><span class="TLline"><a href="/medgen/18392" ref="tree=MeSH" title="MedGen record for Peritoneal neoplasm">Peritoneal neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/237154" ref="tree=MeSH" title="MedGen record for Primary peritoneal serous/papillary carcinoma">Primary peritoneal serous/papillary carcinoma</a></span></li></ul></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/1997" ref="tree=MeSH" title="MedGen record for Imperforate anus">Imperforate anus</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/9917" ref="tree=MeSH" title="MedGen record for Meckel diverticulum">Meckel diverticulum</a></span></li><li><span class="TLline"><a href="/medgen/1684095" ref="tree=MeSH" title="MedGen record for Pancreaticobiliary Maljunction">Pancreaticobiliary Maljunction</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/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/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/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></ul></li><li><span class="TLline"><a href="/medgen/672818" ref="tree=MeSH" title="MedGen record for Acephalostomia">Acephalostomia</a></span></li><li><span class="TLline"><a href="/medgen/7816" ref="tree=MeSH" title="MedGen record for Agenesis">Agenesis</a></span><ul><li><span class="TLline"><a href="/medgen/98313" ref="tree=MeSH" title="MedGen record for Anodontia">Anodontia</a></span><ul><li><span class="TLline"><a href="/medgen/43794" ref="tree=MeSH" title="MedGen record for Hypodontia">Hypodontia</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/78541" ref="tree=MeSH" title="MedGen record for Agnathia-otocephaly complex">Agnathia-otocephaly complex</a></span></li><li><span class="TLline"><a href="/medgen/56288" ref="tree=MeSH" title="MedGen record for Ankyloglossia">Ankyloglossia</a></span></li><li><span class="TLline"><a href="/medgen/36265" ref="tree=MeSH" title="MedGen record for Branchial cleft anomaly">Branchial cleft anomaly</a></span></li><li><span class="TLline"><a href="/medgen/900065" ref="tree=MeSH" title="MedGen record for Caudal Dysplasia">Caudal Dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/452351" ref="tree=MeSH" title="MedGen record for Cebocephaly">Cebocephaly</a></span></li><li><span class="TLline"><a href="/medgen/905018" ref="tree=MeSH" title="MedGen record for Celosomy">Celosomy</a></span></li><li><span class="TLline"><a href="/medgen/539672" ref="tree=MeSH" title="MedGen record for Cheilognathoschisis">Cheilognathoschisis</a></span></li><li><span class="TLline"><a href="/medgen/899134" ref="tree=MeSH" title="MedGen record for Cleft Jaw">Cleft Jaw</a></span></li><li><span class="TLline"><a href="/medgen/146346" ref="tree=MeSH" title="MedGen record for Cleft mandible">Cleft mandible</a></span></li><li><span class="TLline"><a href="/medgen/903416" ref="tree=MeSH" title="MedGen record for Cleft Maxilla">Cleft Maxilla</a></span></li><li><span class="TLline"><a href="/medgen/40327" ref="tree=MeSH" title="MedGen record for Cleft upper lip">Cleft upper lip</a></span><ul><li><span class="TLline"><a href="/medgen/1842011" ref="tree=MeSH" title="MedGen record for Complete cleft of the upper lip">Complete cleft of the upper lip</a></span><ul><li><span class="TLline"><a href="/medgen/510610" ref="tree=MeSH" title="MedGen record for Complete unilateral cleft lip">Complete unilateral cleft lip</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866805" ref="tree=MeSH" title="MedGen record for Incomplete cleft of the upper lip">Incomplete cleft of the upper lip</a></span></li><li><span class="TLline"><a href="/medgen/342454" ref="tree=MeSH" title="MedGen record for Median cleft upper lip">Median cleft upper lip</a></span><ul><li><span class="TLline"><a href="/medgen/1795813" ref="tree=MeSH" title="MedGen record for Median pseudocleft lip">Median pseudocleft lip</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1841679" ref="tree=MeSH" title="MedGen record for Microform cleft of the upper lip">Microform cleft of the upper lip</a></span><ul><li><span class="TLline"><a href="/medgen/1841973" ref="tree=MeSH" title="MedGen record for Microform unilateral cleft lip">Microform unilateral cleft lip</a></span></li><li><span class="TLline"><a href="/medgen/326445" ref="tree=MeSH" title="MedGen record for Submucous cleft lip">Submucous cleft lip</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866673" ref="tree=MeSH" title="MedGen record for Non-midline cleft of the upper lip">Non-midline cleft of the upper lip</a></span><ul><li><span class="TLline"><a href="/medgen/451046" ref="tree=MeSH" title="MedGen record for Bilateral cleft lip">Bilateral cleft lip</a></span></li><li><span class="TLline"><a href="/medgen/451047" ref="tree=MeSH" title="MedGen record for Unilateral cleft lip">Unilateral cleft lip</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/539673" ref="tree=MeSH" title="MedGen record for Cleft upper lip, upper jaw AND palate">Cleft upper lip, upper jaw AND palate</a></span></li><li><span class="TLline"><a href="/medgen/3130" ref="tree=MeSH" title="MedGen record for Clubfoot">Clubfoot</a></span><ul><li><span class="TLline"><a href="/medgen/332956" ref="tree=MeSH" title="MedGen record for Bilateral talipes equinovarus">Bilateral talipes equinovarus</a></span></li><li><span class="TLline"><a href="/medgen/330444" ref="tree=MeSH" title="MedGen record for Talipes cavus equinovarus">Talipes cavus equinovarus</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/3441" ref="tree=MeSH" title="MedGen record for Congenital chromosomal disease">Congenital chromosomal disease</a></span><ul><li><span class="TLline"><a href="/medgen/162878" ref="tree=MeSH" title="MedGen record for 11q partial monosomy syndrome">11q partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/408255" ref="tree=MeSH" title="MedGen record for 4p partial monosomy syndrome">4p partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/41345" ref="tree=MeSH" title="MedGen record for 5p partial monosomy syndrome">5p partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/58144" ref="tree=MeSH" title="MedGen record for Angelman syndrome">Angelman syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1842258" ref="tree=MeSH" title="MedGen record for Angelman syndrome due to a point mutation">Angelman syndrome due to a point mutation</a></span></li><li><span class="TLline"><a href="/medgen/1826135" ref="tree=MeSH" title="MedGen record for Angelman syndrome due to imprinting defect in 15q11-q13">Angelman syndrome due to imprinting defect in 15q11-q13</a></span></li><li><span class="TLline"><a href="/medgen/1797757" ref="tree=MeSH" title="MedGen record for Angelman syndrome due to maternal 15q11q13 deletion">Angelman syndrome due to maternal 15q11q13 deletion</a></span></li><li><span class="TLline"><a href="/medgen/1826078" ref="tree=MeSH" title="MedGen record for Angelman syndrome due to paternal uniparental disomy of chromosome 15">Angelman syndrome due to paternal uniparental disomy of chromosome 15</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1843454" ref="tree=MeSH" title="MedGen record for Autosomal anomaly">Autosomal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/977694" ref="tree=MeSH" title="MedGen record for Autosomal monosomy">Autosomal monosomy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/199033" ref="tree=MeSH" title="MedGen record for Autosomal chromosomal disorder">Autosomal chromosomal disorder</a></span><ul><li><span class="TLline"><a href="/medgen/162780" ref="tree=MeSH" title="MedGen record for Chromosome 13q trisomy">Chromosome 13q trisomy</a></span></li><li><span class="TLline"><a href="/medgen/167068" ref="tree=MeSH" title="MedGen record for Chromosome 3, trisomy 3p">Chromosome 3, trisomy 3p</a></span></li><li><span class="TLline"><a href="/medgen/419839" ref="tree=MeSH" title="MedGen record for Chromosome 5, trisomy 5p">Chromosome 5, trisomy 5p</a></span></li><li><span class="TLline"><a href="/medgen/56261" ref="tree=MeSH" title="MedGen record for Complete trisomy 13 syndrome">Complete trisomy 13 syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120542" ref="tree=MeSH" title="MedGen record for Complete trisomy 20 syndrome">Complete trisomy 20 syndrome</a></span></li><li><span class="TLline"><a href="/medgen/4385" ref="tree=MeSH" title="MedGen record for Down syndrome">Down syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98158" ref="tree=MeSH" title="MedGen record for Trisomy 8">Trisomy 8</a></span></li><li><span class="TLline"><a href="/medgen/1384417" ref="tree=MeSH" title="MedGen record for Trisomy 18">Trisomy 18</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2562" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome">Beckwith-Wiedemann syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1826104" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to 11p15 microdeletion">Beckwith-Wiedemann syndrome due to 11p15 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/1826126" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to 11p15 microduplication">Beckwith-Wiedemann syndrome due to 11p15 microduplication</a></span></li><li><span class="TLline"><a href="/medgen/1826105" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion">Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion</a></span></li><li><span class="TLline"><a href="/medgen/1826157" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to CDKN1C mutation">Beckwith-Wiedemann syndrome due to CDKN1C mutation</a></span></li><li><span class="TLline"><a href="/medgen/1842606" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to imprinting defect of 11p15">Beckwith-Wiedemann syndrome due to imprinting defect of 11p15</a></span></li><li><span class="TLline"><a href="/medgen/1825953" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to NSD1 mutation">Beckwith-Wiedemann syndrome due to NSD1 mutation</a></span></li><li><span class="TLline"><a href="/medgen/1843183" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11">Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78752" ref="tree=MeSH" title="MedGen record for De Lange syndrome">De Lange syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/315658" ref="tree=MeSH" title="MedGen record for Congenital muscular hypertrophy-cerebral syndrome">Congenital muscular hypertrophy-cerebral syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1645760" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 1">Cornelia de Lange syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/339902" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 3">Cornelia de Lange syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/766431" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 4">Cornelia de Lange syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/763817" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 5">Cornelia de Lange syndrome 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82693" ref="tree=MeSH" title="MedGen record for Melnick-Fraser syndrome">Melnick-Fraser syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1641418" ref="tree=MeSH" title="MedGen record for Mosaic variegated aneuploidy syndrome">Mosaic variegated aneuploidy syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/338026" ref="tree=MeSH" title="MedGen record for Mosaic variegated aneuploidy syndrome 1">Mosaic variegated aneuploidy syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/481473" ref="tree=MeSH" title="MedGen record for Mosaic variegated aneuploidy syndrome 2">Mosaic variegated aneuploidy syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/1616382" ref="tree=MeSH" title="MedGen record for Mosaic variegated aneuploidy syndrome 3">Mosaic variegated aneuploidy syndrome 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/46057" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome">Prader-Willi syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1826086" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome due to imprinting mutation">Prader-Willi syndrome due to imprinting mutation</a></span></li><li><span class="TLline"><a href="/medgen/1826079" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15">Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15</a></span></li><li><span class="TLline"><a href="/medgen/1826129" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome due to paternal 15q11q13 deletion">Prader-Willi syndrome due to paternal 15q11q13 deletion</a></span></li><li><span class="TLline"><a href="/medgen/1826085" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome due to translocation">Prader-Willi syndrome due to translocation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/988614" ref="tree=MeSH" title="MedGen record for Ring chromosome anomaly">Ring chromosome anomaly</a></span></li><li><span class="TLline"><a href="/medgen/183658" ref="tree=MeSH" title="MedGen record for Sex-linked hereditary disorder">Sex-linked hereditary disorder</a></span><ul><li><span class="TLline"><a href="/medgen/8912" ref="tree=MeSH" title="MedGen record for Fragile X syndrome">Fragile X syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/162881" ref="tree=MeSH" title="MedGen record for Smith-Magenis syndrome">Smith-Magenis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/61232" ref="tree=MeSH" title="MedGen record for Sotos syndrome">Sotos syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1379406" ref="tree=MeSH" title="MedGen record for Trisomy 13 Syndromes">Trisomy 13 Syndromes</a></span></li><li><span class="TLline"><a href="/medgen/59799" ref="tree=MeSH" title="MedGen record for Williams syndrome">Williams syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/68625" ref="tree=MeSH" title="MedGen record for Congenital diaphragmatic hernia">Congenital diaphragmatic hernia</a></span><ul><li><span class="TLline"><a href="/medgen/1369533" ref="tree=MeSH" title="MedGen record for Central diaphragmatic hernia">Central diaphragmatic hernia</a></span></li><li><span class="TLline"><a href="/medgen/327154" ref="tree=MeSH" title="MedGen record for Diaphragmatic hernia 1">Diaphragmatic hernia 1</a></span></li><li><span class="TLline"><a href="/medgen/347411" ref="tree=MeSH" title="MedGen record for Diaphragmatic hernia 2">Diaphragmatic hernia 2</a></span></li><li><span class="TLline"><a href="/medgen/347546" ref="tree=MeSH" title="MedGen record for Diaphragmatic hernia 3">Diaphragmatic hernia 3</a></span></li><li><span class="TLline"><a href="/medgen/334881" ref="tree=MeSH" title="MedGen record for Hernia, anterior diaphragmatic">Hernia, anterior diaphragmatic</a></span></li><li><span class="TLline"><a href="/medgen/539425" ref="tree=MeSH" title="MedGen record for Morgagni diaphragmatic hernia">Morgagni diaphragmatic hernia</a></span></li><li><span class="TLline"><a href="/medgen/539426" ref="tree=MeSH" title="MedGen record for Posterolateral diaphragmatic hernia">Posterolateral diaphragmatic hernia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/859099" ref="tree=MeSH" title="MedGen record for Congenital Disruption">Congenital Disruption</a></span></li><li><span class="TLline"><a href="/medgen/82719" ref="tree=MeSH" title="MedGen record for Congenital hallux valgus">Congenital hallux valgus</a></span></li><li><span class="TLline"><a href="/medgen/823772" ref="tree=MeSH" title="MedGen record for Congenital Hand and Foot Deformity">Congenital Hand and Foot Deformity</a></span><ul><li><span class="TLline"><a href="/medgen/78564" ref="tree=MeSH" title="MedGen record for Congenital macrodactylia">Congenital macrodactylia</a></span><ul><li><span class="TLline"><a href="/medgen/510642" ref="tree=MeSH" title="MedGen record for Macrodactyly of finger">Macrodactyly of finger</a></span></li><li><span class="TLline"><a href="/medgen/510644" ref="tree=MeSH" title="MedGen record for Macrodactyly of toe">Macrodactyly of toe</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/672334" ref="tree=MeSH" title="MedGen record for Hypoplasia of the radius">Hypoplasia of the radius</a></span><ul><li><span class="TLline"><a href="/medgen/395274" ref="tree=MeSH" title="MedGen record for Hypoplasia of proximal radius">Hypoplasia of proximal radius</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/98469" ref="tree=MeSH" title="MedGen record for Short thumb">Short thumb</a></span><ul><li><span class="TLline"><a href="/medgen/867053" ref="tree=MeSH" title="MedGen record for Short phalanx of the thumb">Short phalanx of the thumb</a></span></li><li><span class="TLline"><a href="/medgen/1053959" ref="tree=MeSH" title="MedGen record for Thumb hypoplasia grade 1">Thumb hypoplasia grade 1</a></span></li><li><span class="TLline"><a href="/medgen/1053366" ref="tree=MeSH" title="MedGen record for Thumb hypoplasia grade 2">Thumb hypoplasia grade 2</a></span></li><li><span class="TLline"><a href="/medgen/1053249" ref="tree=MeSH" title="MedGen record for Thumb hypoplasia grade 4">Thumb hypoplasia grade 4</a></span></li><li><span class="TLline"><a href="/medgen/1054370" ref="tree=MeSH" title="MedGen record for Thumb hypoplasia grade 3A">Thumb hypoplasia grade 3A</a></span></li><li><span class="TLline"><a href="/medgen/1053504" ref="tree=MeSH" title="MedGen record for Thumb hypoplasia grade 3B">Thumb hypoplasia grade 3B</a></span></li><li><span class="TLline"><a href="/medgen/870692" ref="tree=MeSH" title="MedGen record for Thumbs hypoplastic with bulbous tips">Thumbs hypoplastic with bulbous tips</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/96108" ref="tree=MeSH" title="MedGen record for Single transverse palmar crease">Single transverse palmar crease</a></span><ul><li><span class="TLline"><a href="/medgen/354661" ref="tree=MeSH" title="MedGen record for Bilateral single transverse palmar creases">Bilateral single transverse palmar creases</a></span></li></ul></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/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/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/625502" ref="tree=MeSH" title="MedGen record for Congenital Malformation Syndrome Related to Known Exogenous Cause">Congenital Malformation Syndrome Related to Known Exogenous Cause</a></span></li><li><span class="TLline"><a href="/medgen/827249" ref="tree=MeSH" title="MedGen record for Congenital Microtia">Congenital Microtia</a></span></li><li><span class="TLline"><a href="/medgen/162756" ref="tree=MeSH" title="MedGen record for Congenital omphalocele">Congenital omphalocele</a></span><ul><li><span class="TLline"><a href="/medgen/478865" ref="tree=MeSH" title="MedGen record for Omphalocele, autosomal">Omphalocele, autosomal</a></span></li><li><span class="TLline"><a href="/medgen/477256" ref="tree=MeSH" title="MedGen record for Omphalocele, X-linked">Omphalocele, X-linked</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/539398" ref="tree=MeSH" title="MedGen record for Congenital pseudoarthrosis of the tibia">Congenital pseudoarthrosis of the tibia</a></span></li><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><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></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></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></li><li><span class="TLline"><a href="/medgen/743837" ref="tree=MeSH" title="MedGen record for Congenital vascular malformation">Congenital vascular malformation</a></span></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></li><li><span class="TLline"><a href="/medgen/41703" ref="tree=MeSH" title="MedGen record for Ectopia cordis">Ectopia cordis</a></span></li><li><span class="TLline"><a href="/medgen/476191" ref="tree=MeSH" title="MedGen record for Great Vessels Abnormality">Great Vessels Abnormality</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/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/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/539705" ref="tree=MeSH" title="MedGen record for Esophageal duplication">Esophageal duplication</a></span></li><li><span class="TLline"><a href="/medgen/539729" ref="tree=MeSH" title="MedGen record for Intestinal duplication">Intestinal duplication</a></span></li><li><span class="TLline"><a href="/medgen/113153" ref="tree=MeSH" title="MedGen record for Intestinal malrotation">Intestinal malrotation</a></span></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/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><li><span class="TLline"><a href="/medgen/265" ref="tree=MeSH" title="MedGen record for Constriction ring syndrome">Constriction ring syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75575" ref="tree=MeSH" title="MedGen record for Craniolacunia">Craniolacunia</a></span></li><li><span class="TLline"><a href="/medgen/78563" ref="tree=MeSH" title="MedGen record for Cranioschisis">Cranioschisis</a></span></li><li><span class="TLline"><a href="/medgen/81386" ref="tree=MeSH" title="MedGen record for Cryptophthalmia">Cryptophthalmia</a></span><ul><li><span class="TLline"><a href="/medgen/342242" ref="tree=MeSH" title="MedGen record for Isolated cryptophthalmia">Isolated cryptophthalmia</a></span><ul><li><span class="TLline"><a href="/medgen/1773866" ref="tree=MeSH" title="MedGen record for Complete cryptophthalmia">Complete cryptophthalmia</a></span></li><li><span class="TLline"><a href="/medgen/1843099" ref="tree=MeSH" title="MedGen record for Partial cryptophthalmia">Partial cryptophthalmia</a></span></li><li><span class="TLline"><a href="/medgen/509041" ref="tree=MeSH" title="MedGen record for Symblepharon">Symblepharon</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/452352" ref="tree=MeSH" title="MedGen record for Ethmocephaly">Ethmocephaly</a></span></li><li><span class="TLline"><a href="/medgen/120577" ref="tree=MeSH" title="MedGen record for Exencephaly">Exencephaly</a></span></li><li><span class="TLline"><a href="/medgen/82720" ref="tree=MeSH" title="MedGen record for Hemivertebrae">Hemivertebrae</a></span><ul><li><span class="TLline"><a href="/medgen/609382" ref="tree=MeSH" title="MedGen record for Cervical hemivertebrae">Cervical hemivertebrae</a></span></li><li><span class="TLline"><a href="/medgen/98474" ref="tree=MeSH" title="MedGen record for Lumbar hemivertebrae">Lumbar hemivertebrae</a></span></li><li><span class="TLline"><a href="/medgen/98142" ref="tree=MeSH" title="MedGen record for Thoracic hemivertebrae">Thoracic hemivertebrae</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78617" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 1">Holoprosencephaly 1</a></span></li><li><span class="TLline"><a href="/medgen/9373" ref="tree=MeSH" title="MedGen record for Hypertelorism">Hypertelorism</a></span></li><li><span class="TLline"><a href="/medgen/731463" ref="tree=MeSH" title="MedGen record for Impatent structure">Impatent structure</a></span></li><li><span class="TLline"><a href="/medgen/98489" ref="tree=MeSH" title="MedGen record for Isolated congenital breast hypoplasia/aplasia">Isolated congenital breast hypoplasia/aplasia</a></span><ul><li><span class="TLline"><a href="/medgen/429802" ref="tree=MeSH" title="MedGen record for Amastia">Amastia</a></span></li><li><span class="TLline"><a href="/medgen/991554" ref="tree=MeSH" title="MedGen record for Breasts and/or nipples, aplasia or hypoplasia of, 1">Breasts and/or nipples, aplasia or hypoplasia of, 1</a></span></li><li><span class="TLline"><a href="/medgen/863355" ref="tree=MeSH" title="MedGen record for Breasts and/or nipples, aplasia or hypoplasia of, 2">Breasts and/or nipples, aplasia or hypoplasia of, 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78572" ref="tree=MeSH" title="MedGen record for Laryngeal atresia">Laryngeal atresia</a></span></li><li><span class="TLline"><a href="/medgen/327075" ref="tree=MeSH" title="MedGen record for Laryngeal cleft">Laryngeal cleft</a></span></li><li><span class="TLline"><a href="/medgen/476131" ref="tree=MeSH" title="MedGen record for Lithium Induced Birth Defect">Lithium Induced Birth Defect</a></span></li><li><span class="TLline"><a href="/medgen/140763" ref="tree=MeSH" title="MedGen record for Lymphatic malformation">Lymphatic malformation</a></span><ul><li><span class="TLline"><a href="/medgen/9828" ref="tree=MeSH" title="MedGen record for Intestinal lymphangiectasia">Intestinal lymphangiectasia</a></span><ul><li><span class="TLline"><a href="/medgen/444009" ref="tree=MeSH" title="MedGen record for Primary intestinal lymphangiectasia">Primary intestinal lymphangiectasia</a></span></li><li><span class="TLline"><a href="/medgen/19522" ref="tree=MeSH" title="MedGen record for Protein-losing enteropathy">Protein-losing enteropathy</a></span></li><li><span class="TLline"><a href="/medgen/908114" ref="tree=MeSH" title="MedGen record for Secondary intestinal lymphangiectasia">Secondary intestinal lymphangiectasia</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/322956" ref="tree=MeSH" title="MedGen record for Macrocephaly at birth">Macrocephaly at birth</a></span></li><li><span class="TLline"><a href="/medgen/926311" ref="tree=MeSH" title="MedGen record for Major Congenital Anomaly">Major Congenital Anomaly</a></span></li><li><span class="TLline"><a href="/medgen/7806" ref="tree=MeSH" title="MedGen record for Multiple congenital anomalies">Multiple congenital anomalies</a></span><ul><li><span class="TLline"><a href="/medgen/107893" ref="tree=MeSH" title="MedGen record for 3-Methylglutaconic aciduria type 2">3-Methylglutaconic aciduria type 2</a></span></li><li><span class="TLline"><a href="/medgen/39014" ref="tree=MeSH" title="MedGen record for Arteriohepatic dysplasia">Arteriohepatic dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/1826025" ref="tree=MeSH" title="MedGen record for Alagille syndrome due to 20p12 microdeletion">Alagille syndrome due to 20p12 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/365434" ref="tree=MeSH" title="MedGen record for Alagille syndrome due to a JAG1 point mutation">Alagille syndrome due to a JAG1 point mutation</a></span></li><li><span class="TLline"><a href="/medgen/341844" ref="tree=MeSH" title="MedGen record for Alagille syndrome due to a NOTCH2 point mutation">Alagille syndrome due to a NOTCH2 point mutation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2685" ref="tree=MeSH" title="MedGen record for Bloom syndrome">Bloom syndrome</a></span></li><li><span class="TLline"><a href="/medgen/908923" ref="tree=MeSH" title="MedGen record for Ciliopathy">Ciliopathy</a></span><ul><li><span class="TLline"><a href="/medgen/156019" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome">Bardet-Biedl syndrome</a></span></li><li><span class="TLline"><a href="/medgen/91070" ref="tree=MeSH" title="MedGen record for Birt-Hogg-Dube syndrome">Birt-Hogg-Dube syndrome</a></span></li><li><span class="TLline"><a href="/medgen/900688" ref="tree=MeSH" title="MedGen record for Complex lethal osteochondrodysplasia">Complex lethal osteochondrodysplasia</a></span></li><li><span class="TLline"><a href="/medgen/120531" ref="tree=MeSH" title="MedGen record for Greig cephalopolysyndactyly syndrome">Greig cephalopolysyndactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419335" ref="tree=MeSH" title="MedGen record for Hydrolethalus syndrome">Hydrolethalus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1799564" ref="tree=MeSH" title="MedGen record for NEK9-related lethal skeletal dysplasia">NEK9-related lethal skeletal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/993107" ref="tree=MeSH" title="MedGen record for Oral-facial-digital syndrome with short stature and brachymesophalangy">Oral-facial-digital syndrome with short stature and brachymesophalangy</a></span></li><li><span class="TLline"><a href="/medgen/9639" ref="tree=MeSH" title="MedGen record for Polycystic kidney disease">Polycystic kidney disease</a></span></li><li><span class="TLline"><a href="/medgen/3467" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia">Primary ciliary dyskinesia</a></span></li><li><span class="TLline"><a href="/medgen/762199" ref="tree=MeSH" title="MedGen record for Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome">Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/42458" ref="tree=MeSH" title="MedGen record for Von Hippel-Lindau syndrome">Von Hippel-Lindau syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/40363" ref="tree=MeSH" title="MedGen record for Cockayne syndrome">Cockayne syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/155488" ref="tree=MeSH" title="MedGen record for Cockayne syndrome type 1">Cockayne syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/155487" ref="tree=MeSH" title="MedGen record for Cockayne syndrome type 2">Cockayne syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/196713" ref="tree=MeSH" title="MedGen record for Cockayne syndrome type 3">Cockayne syndrome type 3</a></span></li><li><span class="TLline"><a href="/medgen/1762238" ref="tree=MeSH" title="MedGen record for COFS syndrome">COFS syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/19841" ref="tree=MeSH" title="MedGen record for Congenital rubella syndrome">Congenital rubella syndrome</a></span></li><li><span class="TLline"><a href="/medgen/408188" ref="tree=MeSH" title="MedGen record for Deaf-Blind Disorders">Deaf-Blind Disorders</a></span><ul><li><span class="TLline"><a href="/medgen/78754" ref="tree=MeSH" title="MedGen record for Usher syndrome">Usher syndrome</a></span></li><li><span class="TLline"><a href="/medgen/21923" ref="tree=MeSH" title="MedGen record for Wolfram syndrome">Wolfram syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6547" ref="tree=MeSH" title="MedGen record for Gardner syndrome">Gardner syndrome</a></span></li><li><span class="TLline"><a href="/medgen/2554" ref="tree=MeSH" title="MedGen record for Gorlin syndrome">Gorlin syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1054819" ref="tree=MeSH" title="MedGen record for Basal cell nevus syndrome 1">Basal cell nevus syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1841087" ref="tree=MeSH" title="MedGen record for Basal cell nevus syndrome 2">Basal cell nevus syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/403467" ref="tree=MeSH" title="MedGen record for Isolated Noncompaction of the Ventricular Myocardium">Isolated Noncompaction of the Ventricular Myocardium</a></span></li><li><span class="TLline"><a href="/medgen/44078" ref="tree=MeSH" title="MedGen record for Laurence-Moon syndrome">Laurence-Moon syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1646345" ref="tree=MeSH" title="MedGen record for Linear nevus sebaceous syndrome">Linear nevus sebaceous syndrome</a></span></li><li><span class="TLline"><a href="/medgen/18145" ref="tree=MeSH" title="MedGen record for Lowe syndrome">Lowe syndrome</a></span></li><li><span class="TLline"><a href="/medgen/44287" ref="tree=MeSH" title="MedGen record for Marfan syndrome">Marfan syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/443966" ref="tree=MeSH" title="MedGen record for Loeys-Dietz Syndrome Type 2">Loeys-Dietz Syndrome Type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10257" ref="tree=MeSH" title="MedGen record for Nail-patella syndrome">Nail-patella syndrome</a></span></li><li><span class="TLline"><a href="/medgen/66357" ref="tree=MeSH" title="MedGen record for Oromandibular-limb hypogenesis spectrum">Oromandibular-limb hypogenesis spectrum</a></span></li><li><span class="TLline"><a href="/medgen/120514" ref="tree=MeSH" title="MedGen record for Pallister-Hall syndrome">Pallister-Hall syndrome</a></span></li><li><span class="TLline"><a href="/medgen/39276" ref="tree=MeSH" title="MedGen record for POEMS syndrome">POEMS syndrome</a></span></li><li><span class="TLline"><a href="/medgen/11412" ref="tree=MeSH" title="MedGen record for Short rib-polydactyly syndrome">Short rib-polydactyly syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/19860" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 3">Asphyxiating thoracic dystrophy 3</a></span></li><li><span class="TLline"><a href="/medgen/78548" ref="tree=MeSH" title="MedGen record for Jeune thoracic dystrophy">Jeune thoracic dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1371401" ref="tree=MeSH" title="MedGen record for Joubert syndrome with Jeune asphyxiating thoracic dystrophy">Joubert syndrome with Jeune asphyxiating thoracic dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/988414" ref="tree=MeSH" title="MedGen record for Short rib-polydactyly syndrome, Majewski type">Short rib-polydactyly syndrome, Majewski type</a></span></li><li><span class="TLline"><a href="/medgen/44252" ref="tree=MeSH" title="MedGen record for Short-rib thoracic dysplasia 6 with or without polydactyly">Short-rib thoracic dysplasia 6 with or without polydactyly</a></span></li><li><span class="TLline"><a href="/medgen/481422" ref="tree=MeSH" title="MedGen record for Short-rib thoracic dysplasia 7 with or without polydactyly">Short-rib thoracic dysplasia 7 with or without polydactyly</a></span></li><li><span class="TLline"><a href="/medgen/96578" ref="tree=MeSH" title="MedGen record for Type IV short rib polydactyly syndrome">Type IV short rib polydactyly syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/61231" ref="tree=MeSH" title="MedGen record for Smith-Lemli-Opitz syndrome">Smith-Lemli-Opitz syndrome</a></span></li><li><span class="TLline"><a href="/medgen/465273" ref="tree=MeSH" title="MedGen record for Visceral heterotaxy">Visceral heterotaxy</a></span><ul><li><span class="TLline"><a href="/medgen/75620" ref="tree=MeSH" title="MedGen record for Heterotaxy">Heterotaxy</a></span></li><li><span class="TLline"><a href="/medgen/465274" ref="tree=MeSH" title="MedGen record for Right atrial isomerism">Right atrial isomerism</a></span></li><li><span class="TLline"><a href="/medgen/1642262" ref="tree=MeSH" title="MedGen record for Situs inversus">Situs inversus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/473809" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome">Waardenburg syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/376211" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 1">Waardenburg syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/398443" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 2">Waardenburg syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/86948" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 3">Waardenburg syndrome type 3</a></span></li><li><span class="TLline"><a href="/medgen/341244" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 4A">Waardenburg syndrome type 4A</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82705" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome">Weill-Marchesani syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/416383" ref="tree=MeSH" title="MedGen record for Weill-Marchesani 4 syndrome, recessive">Weill-Marchesani 4 syndrome, recessive</a></span></li><li><span class="TLline"><a href="/medgen/1637058" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome 1">Weill-Marchesani syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/766699" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome 3">Weill-Marchesani syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/358388" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome 2, dominant">Weill-Marchesani syndrome 2, dominant</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/21958" ref="tree=MeSH" title="MedGen record for Zellweger spectrum disorders">Zellweger spectrum disorders</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/317030" ref="tree=MeSH" title="MedGen record for Neonatal Deformity">Neonatal Deformity</a></span></li><li><span class="TLline"><a href="/medgen/353964" ref="tree=MeSH" title="MedGen record for Neonatal Hearing Impairment">Neonatal Hearing Impairment</a></span><ul><li><span class="TLline"><a href="/medgen/105487" ref="tree=MeSH" title="MedGen record for Neonatal hearing loss">Neonatal hearing loss</a></span><ul><li><span class="TLline"><a href="/medgen/1768554" ref="tree=MeSH" title="MedGen record for Complete Neonatal Hearing Loss">Complete Neonatal Hearing Loss</a></span></li><li><span class="TLline"><a href="/medgen/1752632" ref="tree=MeSH" title="MedGen record for Partial Neonatal Hearing Loss">Partial Neonatal Hearing Loss</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/154259" ref="tree=MeSH" title="MedGen record for Neurocutaneous melanocytosis">Neurocutaneous melanocytosis</a></span></li><li><span class="TLline"><a href="/medgen/507939" ref="tree=MeSH" title="MedGen record for Ocular melanocytosis">Ocular melanocytosis</a></span><ul><li><span class="TLline"><a href="/medgen/1790578" ref="tree=MeSH" title="MedGen record for Racial Melanosis">Racial Melanosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/472998" ref="tree=MeSH" title="MedGen record for Persistent cloaca">Persistent cloaca</a></span></li><li><span class="TLline"><a href="/medgen/78565" ref="tree=MeSH" title="MedGen record for polysyndactyly">polysyndactyly</a></span></li><li><span class="TLline"><a href="/medgen/897543" ref="tree=MeSH" title="MedGen record for Prosoposchisis">Prosoposchisis</a></span></li><li><span class="TLline"><a href="/medgen/11030" ref="tree=MeSH" title="MedGen record for Pulmonary subvalvular stenosis">Pulmonary subvalvular stenosis</a></span></li><li><span class="TLline"><a href="/medgen/672816" ref="tree=MeSH" title="MedGen record for Rhinocephaly">Rhinocephaly</a></span></li><li><span class="TLline"><a href="/medgen/98428" ref="tree=MeSH" title="MedGen record for Sacral dimple">Sacral dimple</a></span></li><li><span class="TLline"><a href="/medgen/52357" ref="tree=MeSH" title="MedGen record for Sirenomelia">Sirenomelia</a></span></li><li><span class="TLline"><a href="/medgen/67053" ref="tree=MeSH" title="MedGen record for Stomatognathic System Abnormalities">Stomatognathic System Abnormalities</a></span><ul><li><span class="TLline"><a href="/medgen/11849" ref="tree=MeSH" title="MedGen record for Abnormal dental morphology">Abnormal dental morphology</a></span><ul><li><span class="TLline"><a href="/medgen/713394" ref="tree=MeSH" title="MedGen record for Abnormal dental root morphology">Abnormal dental root morphology</a></span></li><li><span class="TLline"><a href="/medgen/869136" ref="tree=MeSH" title="MedGen record for Abnormal incisor morphology">Abnormal incisor morphology</a></span></li><li><span class="TLline"><a href="/medgen/57843" ref="tree=MeSH" title="MedGen record for Ankylosis of tooth">Ankylosis of tooth</a></span></li><li><span class="TLline"><a href="/medgen/1779506" ref="tree=MeSH" title="MedGen record for Barrel-shaped tooth">Barrel-shaped tooth</a></span></li><li><span class="TLline"><a href="/medgen/1785466" ref="tree=MeSH" title="MedGen record for Bulbous tooth">Bulbous tooth</a></span></li><li><span class="TLline"><a href="/medgen/82730" ref="tree=MeSH" title="MedGen record for Conical tooth">Conical tooth</a></span></li><li><span class="TLline"><a href="/medgen/41452" ref="tree=MeSH" title="MedGen record for Dens in dente">Dens in dente</a></span></li><li><span class="TLline"><a href="/medgen/8310" ref="tree=MeSH" title="MedGen record for Dentin dysplasia">Dentin dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/8313" ref="tree=MeSH" title="MedGen record for Dentinogenesis imperfecta">Dentinogenesis imperfecta</a></span></li><li><span class="TLline"><a href="/medgen/3800" ref="tree=MeSH" title="MedGen record for Diastema">Diastema</a></span></li><li><span class="TLline"><a href="/medgen/1631323" ref="tree=MeSH" title="MedGen record for Double tooth">Double tooth</a></span></li><li><span class="TLline"><a href="/medgen/3730" ref="tree=MeSH" title="MedGen record for Enamel hypoplasia">Enamel hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/510141" ref="tree=MeSH" title="MedGen record for Excessive dental attrition">Excessive dental attrition</a></span></li><li><span class="TLline"><a href="/medgen/382413" ref="tree=MeSH" title="MedGen record for Fragile teeth">Fragile teeth</a></span></li><li><span class="TLline"><a href="/medgen/347297" ref="tree=MeSH" title="MedGen record for Irregular dentition">Irregular dentition</a></span></li><li><span class="TLline"><a href="/medgen/82729" ref="tree=MeSH" title="MedGen record for Macrodontia">Macrodontia</a></span></li><li><span class="TLline"><a href="/medgen/66008" ref="tree=MeSH" title="MedGen record for Microdontia">Microdontia</a></span></li><li><span class="TLline"><a href="/medgen/104891" ref="tree=MeSH" title="MedGen record for Regional odontodysplasia">Regional odontodysplasia</a></span></li><li><span class="TLline"><a href="/medgen/4808" ref="tree=MeSH" title="MedGen record for Teeth, fused">Teeth, fused</a></span></li><li><span class="TLline"><a href="/medgen/21210" ref="tree=MeSH" title="MedGen record for Teeth, supernumerary">Teeth, supernumerary</a></span></li><li><span class="TLline"><a href="/medgen/52785" ref="tree=MeSH" title="MedGen record for Tooth avulsion">Tooth avulsion</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6447" ref="tree=MeSH" title="MedGen record for Abnormality of the mouth">Abnormality of the mouth</a></span><ul><li><span class="TLline"><a href="/medgen/1645271" ref="tree=MeSH" title="MedGen record for Abnormal oral morphology">Abnormal oral morphology</a></span></li><li><span class="TLline"><a href="/medgen/1631824" ref="tree=MeSH" title="MedGen record for Abnormal oral physiology">Abnormal oral physiology</a></span></li><li><span class="TLline"><a href="/medgen/451075" ref="tree=MeSH" title="MedGen record for Abnormality of the tongue">Abnormality of the tongue</a></span></li><li><span class="TLline"><a href="/medgen/42017" ref="tree=MeSH" title="MedGen record for Gingival fibromatosis">Gingival fibromatosis</a></span></li><li><span class="TLline"><a href="/medgen/44435" ref="tree=MeSH" title="MedGen record for Narrow mouth">Narrow mouth</a></span></li><li><span class="TLline"><a href="/medgen/52992" ref="tree=MeSH" title="MedGen record for Velopharyngeal insufficiency">Velopharyngeal insufficiency</a></span></li><li><span class="TLline"><a href="/medgen/44238" ref="tree=MeSH" title="MedGen record for Wide mouth">Wide mouth</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/146898" ref="tree=MeSH" title="MedGen record for Tessier cleft">Tessier cleft</a></span><ul><li><span class="TLline"><a href="/medgen/867619" ref="tree=MeSH" title="MedGen record for Midline facial cleft">Midline facial cleft</a></span><ul><li><span class="TLline"><a href="/medgen/66379" ref="tree=MeSH" title="MedGen record for Bifid nose">Bifid nose</a></span></li><li><span class="TLline"><a href="/medgen/863033" ref="tree=MeSH" title="MedGen record for Familial median cleft of the upper and lower lips">Familial median cleft of the upper and lower lips</a></span></li><li><span class="TLline"><a href="/medgen/1803615" ref="tree=MeSH" title="MedGen record for Frontorhiny">Frontorhiny</a></span></li><li><span class="TLline"><a href="/medgen/444125" ref="tree=MeSH" title="MedGen record for Gollop syndrome">Gollop syndrome</a></span></li><li><span class="TLline"><a href="/medgen/784645" ref="tree=MeSH" title="MedGen record for Median cleft of the upper lip and maxilla">Median cleft of the upper lip and maxilla</a></span></li><li><span class="TLline"><a href="/medgen/1374384" ref="tree=MeSH" title="MedGen record for Midline cervical cleft">Midline cervical cleft</a></span></li><li><span class="TLline"><a href="/medgen/1389145" ref="tree=MeSH" title="MedGen record for Midline cleft of lower lip">Midline cleft of lower lip</a></span></li><li><span class="TLline"><a href="/medgen/1644064" ref="tree=MeSH" title="MedGen record for Tessier number 0 facial cleft">Tessier number 0 facial cleft</a></span></li><li><span class="TLline"><a href="/medgen/1635999" ref="tree=MeSH" title="MedGen record for Tessier number 14 facial cleft">Tessier number 14 facial cleft</a></span></li><li><span class="TLline"><a href="/medgen/1636615" ref="tree=MeSH" title="MedGen record for Tessier number 30 facial cleft">Tessier number 30 facial cleft</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/347491" ref="tree=MeSH" title="MedGen record for Orbital cleft">Orbital cleft</a></span><ul><li><span class="TLline"><a href="/medgen/1643789" ref="tree=MeSH" title="MedGen record for Tessier number 10 facial cleft">Tessier number 10 facial cleft</a></span></li><li><span class="TLline"><a href="/medgen/1638874" ref="tree=MeSH" title="MedGen record for Tessier number 11 facial cleft">Tessier number 11 facial cleft</a></span></li><li><span class="TLline"><a href="/medgen/1639445" ref="tree=MeSH" title="MedGen record for Tessier number 3 facial cleft">Tessier number 3 facial cleft</a></span></li><li><span class="TLline"><a href="/medgen/1642051" ref="tree=MeSH" title="MedGen record for Tessier number 4 facial cleft">Tessier number 4 facial cleft</a></span></li><li><span class="TLline"><a href="/medgen/609364" ref="tree=MeSH" title="MedGen record for Tessier number 5 facial cleft">Tessier number 5 facial cleft</a></span></li><li><span class="TLline"><a href="/medgen/1635323" ref="tree=MeSH" title="MedGen record for Tessier number 9 facial cleft">Tessier number 9 facial cleft</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1648013" ref="tree=MeSH" title="MedGen record for Paramedian facial cleft">Paramedian facial cleft</a></span><ul><li><span class="TLline"><a href="/medgen/1681273" ref="tree=MeSH" title="MedGen record for Paramedian nasal cleft">Paramedian nasal cleft</a></span></li><li><span class="TLline"><a href="/medgen/1634662" ref="tree=MeSH" title="MedGen record for Tessier number 1 facial cleft">Tessier number 1 facial cleft</a></span></li><li><span class="TLline"><a href="/medgen/1639172" ref="tree=MeSH" title="MedGen record for Tessier number 12 facial cleft">Tessier number 12 facial cleft</a></span></li><li><span class="TLline"><a href="/medgen/1633782" ref="tree=MeSH" title="MedGen record for Tessier number 13 facial cleft">Tessier number 13 facial cleft</a></span></li><li><span class="TLline"><a href="/medgen/1634409" ref="tree=MeSH" title="MedGen record for Tessier number 2 facial cleft">Tessier number 2 facial cleft</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/672583" ref="tree=MeSH" title="MedGen record for Thoracoceloschisis">Thoracoceloschisis</a></span></li><li><span class="TLline"><a href="/medgen/195781" ref="tree=MeSH" title="MedGen record for Thoracoschisis">Thoracoschisis</a></span></li><li><span class="TLline"><a href="/medgen/289647" ref="tree=MeSH" title="MedGen record for Thyroid dysgenesis">Thyroid dysgenesis</a></span><ul><li><span class="TLline"><a href="/medgen/78591" ref="tree=MeSH" title="MedGen record for Ectopic thyroid">Ectopic thyroid</a></span><ul><li><span class="TLline"><a href="/medgen/867994" ref="tree=MeSH" title="MedGen record for Accessory ectopic thyroid tissue">Accessory ectopic thyroid tissue</a></span></li><li><span class="TLline"><a href="/medgen/78592" ref="tree=MeSH" title="MedGen record for Lingual thyroid">Lingual thyroid</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/209098" ref="tree=MeSH" title="MedGen record for Thyroid malformation">Thyroid malformation</a></span></li><li><span class="TLline"><a href="/medgen/113154" ref="tree=MeSH" title="MedGen record for Webbed neck">Webbed neck</a></span></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/37087836">Comparison of international guidelines on the management of twin pregnancy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Oliver E,
Navaratnam K,
Gent J,
Khalil A,
Sharp A</span><br />
<span class="medgenPMjournal">Eur J Obstet Gynecol Reprod Biol</span>
2023 Jun;285:97-104.
Epub 2023 Apr 7
doi: 10.1016/j.ejogrb.2023.04.002.
<span class="bold">PMID: </span><a href="/pubmed/37087836" target="_blank">37087836</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31270117">Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bakker MK,
Bergman JEH,
Krikov S,
Amar E,
Cocchi G,
Cragan J,
de Walle HEK,
Gatt M,
Groisman B,
Liu S,
Nembhard WN,
Pierini A,
Rissmann A,
Chidambarathanu S,
Sipek A Jr,
Szabova E,
Tagliabue G,
Tucker D,
Mastroiacovo P,
Botto LD</span><br />
<span class="medgenPMjournal">BMJ Open</span>
2019 Jul 2;9(7):e028139.
doi: 10.1136/bmjopen-2018-028139.
<span class="bold">PMID: </span><a href="/pubmed/31270117" target="_blank">31270117</a><a href="/pmc/articles/PMC6609145" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25557883">Society for maternal-fetal medicine (SMFM) clinical guideline #7: nonimmune hydrops fetalis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine (SMFM),
Norton ME,
Chauhan SP,
Dashe JS</span><br />
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
2015 Feb;212(2):127-39.
Epub 2014 Dec 31
doi: 10.1016/j.ajog.2014.12.018.
<span class="bold">PMID: </span><a href="/pubmed/25557883" target="_blank">25557883</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22fetal%20anomaly%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (104)</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/37963346">Structural Anomalies in Multifetal Gestations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hoover EA,
Yamamura Y,
Thompson G</span><br />
<span class="medgenPMjournal">Clin Obstet Gynecol</span>
2023 Dec 1;66(4):781-791.
Epub 2023 Sep 19
doi: 10.1097/GRF.0000000000000816.
<span class="bold">PMID: </span><a href="/pubmed/37963346" target="_blank">37963346</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34353581">Perinatal Cardiovascular Physiology and Recognition of Critical Congenital Heart Defects.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Singh Y,
Lakshminrusimha S</span><br />
<span class="medgenPMjournal">Clin Perinatol</span>
2021 Aug;48(3):573-594.
doi: 10.1016/j.clp.2021.05.008.
<span class="bold">PMID: </span><a href="/pubmed/34353581" target="_blank">34353581</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29108161">Psychological Impact of Abortion due to Fetal Anomaly: A Review of Published Research.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sullivan N,
de Faoite E</span><br />
<span class="medgenPMjournal">Issues Law Med</span>
2017 Spring;32(1):19-30.
<span class="bold">PMID: </span><a href="/pubmed/29108161" target="_blank">29108161</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27885741">Zika and pregnancy: A comprehensive review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hajra A,
Bandyopadhyay D,
Heise LR,
Bhadra R,
Ball S,
Hajra SK</span><br />
<span class="medgenPMjournal">Am J Reprod Immunol</span>
2017 Feb;77(2)
Epub 2016 Nov 25
doi: 10.1111/aji.12607.
<span class="bold">PMID: </span><a href="/pubmed/27885741" target="_blank">27885741</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14711845">Isolated mild fetal ventriculomegaly.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wyldes M,
Watkinson M</span><br />
<span class="medgenPMjournal">Arch Dis Child Fetal Neonatal Ed</span>
2004 Jan;89(1):F9-13.
doi: 10.1136/fn.89.1.f9.
<span class="bold">PMID: </span><a href="/pubmed/14711845" target="_blank">14711845</a><a href="/pmc/articles/PMC1721643" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fetal%20anomaly%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (565)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35543741">How to do a second trimester anomaly scan.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Carmen Prodan N,
Hoopmann M,
Jonaityte G,
Oliver Kagan K</span><br />
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
2023 Apr;307(4):1285-1290.
Epub 2022 May 11
doi: 10.1007/s00404-022-06569-2.
<span class="bold">PMID: </span><a href="/pubmed/35543741" target="_blank">35543741</a><a href="/pmc/articles/PMC10023640" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35000810">When there is only one patient: Induction of labour for termination of pregnancy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Costescu D,
Mui C</span><br />
<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
2022 Mar;79:81-94.
Epub 2021 Nov 17
doi: 10.1016/j.bpobgyn.2021.11.001.
<span class="bold">PMID: </span><a href="/pubmed/35000810" target="_blank">35000810</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34353581">Perinatal Cardiovascular Physiology and Recognition of Critical Congenital Heart Defects.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Singh Y,
Lakshminrusimha S</span><br />
<span class="medgenPMjournal">Clin Perinatol</span>
2021 Aug;48(3):573-594.
doi: 10.1016/j.clp.2021.05.008.
<span class="bold">PMID: </span><a href="/pubmed/34353581" target="_blank">34353581</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27885741">Zika and pregnancy: A comprehensive review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hajra A,
Bandyopadhyay D,
Heise LR,
Bhadra R,
Ball S,
Hajra SK</span><br />
<span class="medgenPMjournal">Am J Reprod Immunol</span>
2017 Feb;77(2)
Epub 2016 Nov 25
doi: 10.1111/aji.12607.
<span class="bold">PMID: </span><a href="/pubmed/27885741" target="_blank">27885741</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14711845">Isolated mild fetal ventriculomegaly.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wyldes M,
Watkinson M</span><br />
<span class="medgenPMjournal">Arch Dis Child Fetal Neonatal Ed</span>
2004 Jan;89(1):F9-13.
doi: 10.1136/fn.89.1.f9.
<span class="bold">PMID: </span><a href="/pubmed/14711845" target="_blank">14711845</a><a href="/pmc/articles/PMC1721643" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fetal%20anomaly%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (534)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/38721874">Diagnostic accuracy of ultrasound screening for fetal structural abnormalities during the first and second trimester of pregnancy in low-risk and unselected populations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Buijtendijk MF,
Bet BB,
Leeflang MM,
Shah H,
Reuvekamp T,
Goring T,
Docter D,
Timmerman MG,
Dawood Y,
Lugthart MA,
Berends B,
Limpens J,
Pajkrt E,
van den Hoff MJ,
de Bakker BS</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2024 May 9;5(5):CD014715.
doi: 10.1002/14651858.CD014715.pub2.
<span class="bold">PMID: </span><a href="/pubmed/38721874" target="_blank">38721874</a><a href="/pmc/articles/PMC11079979" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37725747">Incremental yield of whole-genome sequencing over chromosomal microarray analysis and exome sequencing for congenital anomalies in prenatal period and infancy: systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shreeve N,
Sproule C,
Choy KW,
Dong Z,
Gajewska-Knapik K,
Kilby MD,
Mone F</span><br />
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
2024 Jan;63(1):15-23.
doi: 10.1002/uog.27491.
<span class="bold">PMID: </span><a href="/pubmed/37725747" target="_blank">37725747</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37216430">Maternal Risk Factors for Congenital Vertebral Anomalies: A Population-Based Study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Raitio A,
Heiskanen S,
Syvänen J,
Leinonen MK,
Kemppainen T,
Löyttyniemi E,
Ahonen M,
Gissler M,
Helenius I</span><br />
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
2023 Jul 19;105(14):1087-1092.
Epub 2023 May 22
doi: 10.2106/JBJS.22.01370.
<span class="bold">PMID: </span><a href="/pubmed/37216430" target="_blank">37216430</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33812487">Efficacy and safety of dolutegravir with emtricitabine and tenofovir alafenamide fumarate or tenofovir disoproxil fumarate, and efavirenz, emtricitabine, and tenofovir disoproxil fumarate HIV antiretroviral therapy regimens started in pregnancy (IMPAACT 2010/VESTED): a multicentre, open-label, randomised, controlled, phase 3 trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lockman S,
Brummel SS,
Ziemba L,
Stranix-Chibanda L,
McCarthy K,
Coletti A,
Jean-Philippe P,
Johnston B,
Krotje C,
Fairlie L,
Hoffman RM,
Sax PE,
Moyo S,
Chakhtoura N,
Stringer JS,
Masheto G,
Korutaro V,
Cassim H,
Mmbaga BT,
João E,
Hanley S,
Purdue L,
Holmes LB,
Momper JD,
Shapiro RL,
Thoofer NK,
Rooney JF,
Frenkel LM,
Amico KR,
Chinula L,
Currier J;
IMPAACT 2010/VESTED Study Team and Investigators</span><br />
<span class="medgenPMjournal">Lancet</span>
2021 Apr 3;397(10281):1276-1292.
doi: 10.1016/S0140-6736(21)00314-7.
<span class="bold">PMID: </span><a href="/pubmed/33812487" target="_blank">33812487</a><a href="/pmc/articles/PMC8132194" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25660647">On-label and off-label drug use in the treatment of female infertility.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Usadi RS,
Merriam KS</span><br />
<span class="medgenPMjournal">Fertil Steril</span>
2015 Mar;103(3):583-94.
Epub 2015 Feb 3
doi: 10.1016/j.fertnstert.2015.01.011.
<span class="bold">PMID: </span><a href="/pubmed/25660647" target="_blank">25660647</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fetal%20anomaly%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 (146)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38268232">Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Westenius E,
Conner P,
Pettersson M,
Sahlin E,
Papadogiannakis N,
Lindstrand A,
Iwarsson E</span><br />
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
2024 May;63(5):658-663.
Epub 2024 Apr 14
doi: 10.1002/uog.27592.
<span class="bold">PMID: </span><a href="/pubmed/38268232" target="_blank">38268232</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37216430">Maternal Risk Factors for Congenital Vertebral Anomalies: A Population-Based Study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Raitio A,
Heiskanen S,
Syvänen J,
Leinonen MK,
Kemppainen T,
Löyttyniemi E,
Ahonen M,
Gissler M,
Helenius I</span><br />
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
2023 Jul 19;105(14):1087-1092.
Epub 2023 May 22
doi: 10.2106/JBJS.22.01370.
<span class="bold">PMID: </span><a href="/pubmed/37216430" target="_blank">37216430</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33109517">Non-invasive prenatal testing for aneuploidy screening.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Spencer R,
Hewitt H,
McCarthy L,
Wimalasundera R,
Pandya P</span><br />
<span class="medgenPMjournal">BMJ</span>
2020 Oct 27;371:m3930.
doi: 10.1136/bmj.m3930.
<span class="bold">PMID: </span><a href="/pubmed/33109517" target="_blank">33109517</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25557883">Society for maternal-fetal medicine (SMFM) clinical guideline #7: nonimmune hydrops fetalis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine (SMFM),
Norton ME,
Chauhan SP,
Dashe JS</span><br />
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
2015 Feb;212(2):127-39.
Epub 2014 Dec 31
doi: 10.1016/j.ajog.2014.12.018.
<span class="bold">PMID: </span><a href="/pubmed/25557883" target="_blank">25557883</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14711845">Isolated mild fetal ventriculomegaly.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wyldes M,
Watkinson M</span><br />
<span class="medgenPMjournal">Arch Dis Child Fetal Neonatal Ed</span>
2004 Jan;89(1):F9-13.
doi: 10.1136/fn.89.1.f9.
<span class="bold">PMID: </span><a href="/pubmed/14711845" target="_blank">14711845</a><a href="/pmc/articles/PMC1721643" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fetal%20anomaly%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (222)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/34081895">The impact of physical activity during pregnancy on labor and delivery.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Watkins VY,
O'Donnell CM,
Perez M,
Zhao P,
England S,
Carter EB,
Kelly JC,
Frolova A,
Raghuraman N</span><br />
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
2021 Oct;225(4):437.e1-437.e8.
Epub 2021 Jun 1
doi: 10.1016/j.ajog.2021.05.036.
<span class="bold">PMID: </span><a href="/pubmed/34081895" target="_blank">34081895</a><a href="/pmc/articles/PMC10564562" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33109517">Non-invasive prenatal testing for aneuploidy screening.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Spencer R,
Hewitt H,
McCarthy L,
Wimalasundera R,
Pandya P</span><br />
<span class="medgenPMjournal">BMJ</span>
2020 Oct 27;371:m3930.
doi: 10.1136/bmj.m3930.
<span class="bold">PMID: </span><a href="/pubmed/33109517" target="_blank">33109517</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22014783">Fetal and perinatal autopsy in prenatally diagnosed fetal abnormalities with normal karyotype.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Désilets V,
Oligny LL;
Genetics Committee of the Society of Obstetricians and Gynaecology Canada;
Family Physicians Advisory Committee;
MedicoLegal Committee of the SOGC</span><br />
<span class="medgenPMjournal">J Obstet Gynaecol Can</span>
2011 Oct;33(10):1047-57.
<span class="bold">PMID: </span><a href="/pubmed/22014783" target="_blank">22014783</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16170860">Managing twins discordant for fetal anomaly.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rustico MA,
Baietti MG,
Coviello D,
Orlandi E,
Nicolini U</span><br />
<span class="medgenPMjournal">Prenat Diagn</span>
2005 Sep;25(9):766-71.
doi: 10.1002/pd.1260.
<span class="bold">PMID: </span><a href="/pubmed/16170860" target="_blank">16170860</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2662246">Lethal fetal anomalies: sonographic demonstration.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sanders RC,
Blakemore K</span><br />
<span class="medgenPMjournal">Radiology</span>
1989 Jul;172(1):1-6.
doi: 10.1148/radiology.172.1.2662246.
<span class="bold">PMID: </span><a href="/pubmed/2662246" target="_blank">2662246</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fetal%20anomaly%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 (228)</a></div></div>
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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>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/38721874">Diagnostic accuracy of ultrasound screening for fetal structural abnormalities during the first and second trimester of pregnancy in low-risk and unselected populations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Buijtendijk MF,
Bet BB,
Leeflang MM,
Shah H,
Reuvekamp T,
Goring T,
Docter D,
Timmerman MG,
Dawood Y,
Lugthart MA,
Berends B,
Limpens J,
Pajkrt E,
van den Hoff MJ,
de Bakker BS</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2024 May 9;5(5):CD014715.
doi: 10.1002/14651858.CD014715.pub2.
<span class="bold">PMID: </span><a href="/pubmed/38721874" target="_blank">38721874</a><a href="/pmc/articles/PMC11079979" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37725747">Incremental yield of whole-genome sequencing over chromosomal microarray analysis and exome sequencing for congenital anomalies in prenatal period and infancy: systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shreeve N,
Sproule C,
Choy KW,
Dong Z,
Gajewska-Knapik K,
Kilby MD,
Mone F</span><br />
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
2024 Jan;63(1):15-23.
doi: 10.1002/uog.27491.
<span class="bold">PMID: </span><a href="/pubmed/37725747" target="_blank">37725747</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37878516">Fetal Anomaly: Family Experiences and Preferences for Care: An Integrative Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Theroux R,
Violette C</span><br />
<span class="medgenPMjournal">J Perinat Neonatal Nurs</span>
2023 Oct-Dec 01;37(4):310-324.
doi: 10.1097/JPN.0000000000000752.
<span class="bold">PMID: </span><a href="/pubmed/37878516" target="_blank">37878516</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35619067">Termination of pregnancy for fetal anomaly: a systematic review of the healthcare experiences and needs of parents.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Heaney S,
Tomlinson M,
Aventin Á</span><br />
<span class="medgenPMjournal">BMC Pregnancy Childbirth</span>
2022 May 26;22(1):441.
doi: 10.1186/s12884-022-04770-4.
<span class="bold">PMID: </span><a href="/pubmed/35619067" target="_blank">35619067</a><a href="/pmc/articles/PMC9137204" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25557883">Society for maternal-fetal medicine (SMFM) clinical guideline #7: nonimmune hydrops fetalis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine (SMFM),
Norton ME,
Chauhan SP,
Dashe JS</span><br />
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
2015 Feb;212(2):127-39.
Epub 2014 Dec 31
doi: 10.1016/j.ajog.2014.12.018.
<span class="bold">PMID: </span><a href="/pubmed/25557883" target="_blank">25557883</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fetal%20anomaly%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 (25)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0000768%5bDISCUI%5d&amp;filter=method%3A3%5F24" target="_blank">FISH-metaphase (3)</a></li>
<li><a href="/gtr/tests?term=C0000768%5bDISCUI%5d&amp;filter=method%3A3%5F32" target="_blank">Karyotyping (4)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0000768%5bDISCUI%5d" target="_blank">See all (7)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Fetal%20anomaly" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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