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UID=14319
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ConceptID=C0027612
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital, Hereditary, and Neonatal Diseases and Abnormalities</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14319</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0027612</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality; Disease or Syndrome</dd></dl></div></div></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet_content ln">Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from <a title="Medical Subject Headings" href="http://www.nlm.nih.gov/pubs/factsheets/mesh.html" class="defSource" target="_blank">MeSH</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Congenital, Hereditary, and Neonatal Diseases and Abnormalities</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Congenital, Hereditary, and Neonatal Diseases and Abnormalities</span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="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></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></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></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></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></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></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></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></li><li><span class="TLline"><a href="/medgen/1814390" ref="tree=MeSH" title="MedGen record for Fetal head anomaly">Fetal head anomaly</a></span></li><li><span class="TLline"><a href="/medgen/1813082" ref="tree=MeSH" title="MedGen record for Fetal neck anomaly">Fetal neck anomaly</a></span></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></li><li><span class="TLline"><a href="/medgen/6947" ref="tree=MeSH" title="MedGen record for Hydrops fetalis">Hydrops fetalis</a></span></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></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></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></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></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></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></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></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></li><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/66032" ref="tree=MeSH" title="MedGen record for Abnormality of the vasculature">Abnormality of the vasculature</a></span></li><li><span class="TLline"><a href="/medgen/56387" ref="tree=MeSH" title="MedGen record for Vascular malformation">Vascular malformation</a></span></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></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></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></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></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></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></li><li><span class="TLline"><a href="/medgen/501217" ref="tree=MeSH" title="MedGen record for Anorectal anomaly">Anorectal anomaly</a></span></li><li><span class="TLline"><a href="/medgen/3037" ref="tree=MeSH" title="MedGen record for Bile duct cyst">Bile duct cyst</a></span></li><li><span class="TLline"><a href="/medgen/14117" ref="tree=MeSH" title="MedGen record for Biliary atresia">Biliary atresia</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/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></li><li><span class="TLline"><a href="/medgen/4545" ref="tree=MeSH" title="MedGen record for Esophageal atresia">Esophageal atresia</a></span></li><li><span class="TLline"><a href="/medgen/1997" ref="tree=MeSH" title="MedGen record for Imperforate anus">Imperforate anus</a></span></li><li><span class="TLline"><a href="/medgen/7129" ref="tree=MeSH" title="MedGen record for Intestinal atresia">Intestinal atresia</a></span></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></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></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></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></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></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></li><li><span class="TLline"><a href="/medgen/41839" ref="tree=MeSH" title="MedGen record for Epispadias">Epispadias</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/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/163083" ref="tree=MeSH" title="MedGen record for Hypospadias">Hypospadias</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></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></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></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></li><li><span class="TLline"><a href="/medgen/163124" ref="tree=MeSH" title="MedGen record for Urogenital fistula">Urogenital fistula</a></span></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></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></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></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></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></li><li><span class="TLline"><a href="/medgen/120578" ref="tree=MeSH" title="MedGen record for Cerebellar hypoplasia">Cerebellar hypoplasia</a></span></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></li><li><span class="TLline"><a href="/medgen/488957" ref="tree=MeSH" title="MedGen record for Congenital meningocele">Congenital meningocele</a></span></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></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></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></li><li><span class="TLline"><a href="/medgen/155625" ref="tree=MeSH" title="MedGen record for Glycine encephalopathy">Glycine encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/45066" ref="tree=MeSH" title="MedGen record for Hereditary motor and sensory neuropathy">Hereditary motor and sensory neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/474858" ref="tree=MeSH" title="MedGen record for Hereditary Neurodegenerative Disorder">Hereditary Neurodegenerative Disorder</a></span></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></li><li><span class="TLline"><a href="/medgen/6937" ref="tree=MeSH" title="MedGen record for Hydranencephaly">Hydranencephaly</a></span></li><li><span class="TLline"><a href="/medgen/364975" ref="tree=MeSH" title="MedGen record for Malformation of cortical development">Malformation of cortical development</a></span></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/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></li><li><span class="TLline"><a href="/medgen/18009" ref="tree=MeSH" title="MedGen record for Neural tube defect">Neural tube defect</a></span></li><li><span class="TLline"><a href="/medgen/137901" ref="tree=MeSH" title="MedGen record for Optic nerve hypoplasia">Optic nerve hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/78605" ref="tree=MeSH" title="MedGen record for Polymicrogyria">Polymicrogyria</a></span></li><li><span class="TLline"><a href="/medgen/78606" ref="tree=MeSH" title="MedGen record for Schizencephaly">Schizencephaly</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/156014" ref="tree=MeSH" title="MedGen record for Vascular malformation of the nervous system">Vascular malformation of the nervous system</a></span></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></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/61236" ref="tree=MeSH" title="MedGen record for Aicardi syndrome">Aicardi syndrome</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></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></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></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></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></li><li><span class="TLline"><a href="/medgen/2670" ref="tree=MeSH" title="MedGen record for Blepharophimosis">Blepharophimosis</a></span></li><li><span class="TLline"><a href="/medgen/573149" ref="tree=MeSH" title="MedGen record for Choroidal effusion">Choroidal effusion</a></span></li><li><span class="TLline"><a href="/medgen/1941" ref="tree=MeSH" title="MedGen record for Congenital aniridia">Congenital aniridia</a></span></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></li><li><span class="TLline"><a href="/medgen/1046" ref="tree=MeSH" title="MedGen record for Congenital ocular coloboma">Congenital ocular coloboma</a></span></li><li><span class="TLline"><a href="/medgen/3202" ref="tree=MeSH" title="MedGen record for Developmental cataract">Developmental cataract</a></span></li><li><span class="TLline"><a href="/medgen/41704" ref="tree=MeSH" title="MedGen record for Ectopia lentis">Ectopia lentis</a></span></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></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></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></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></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></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></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></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></li><li><span class="TLline"><a href="/medgen/57643" ref="tree=MeSH" title="MedGen record for Pectus carinatum">Pectus carinatum</a></span></li><li><span class="TLline"><a href="/medgen/11689" ref="tree=MeSH" title="MedGen record for Synostosis">Synostosis</a></span></li><li><span class="TLline"><a href="/medgen/137939" ref="tree=MeSH" title="MedGen record for Tracheobronchomalacia">Tracheobronchomalacia</a></span></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></li><li><span class="TLline"><a href="/medgen/140810" ref="tree=MeSH" title="MedGen record for Carney complex">Carney complex</a></span></li><li><span class="TLline"><a href="/medgen/78580" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita">Dyskeratosis congenita</a></span></li><li><span class="TLline"><a href="/medgen/8544" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia">Ectodermal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/41720" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome">Ehlers-Danlos syndrome</a></span></li><li><span class="TLline"><a href="/medgen/41832" ref="tree=MeSH" title="MedGen record for Epidermolysis bullosa">Epidermolysis bullosa</a></span></li><li><span class="TLline"><a href="/medgen/20779" ref="tree=MeSH" title="MedGen record for Genodermatosis">Genodermatosis</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/7049" ref="tree=MeSH" title="MedGen record for Incontinentia pigmenti syndrome">Incontinentia pigmenti syndrome</a></span></li><li><span class="TLline"><a href="/medgen/65911" ref="tree=MeSH" title="MedGen record for Nevus flammeus">Nevus flammeus</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/20677" ref="tree=MeSH" title="MedGen record for Sclerema neonatorum">Sclerema neonatorum</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/21943" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum">Xeroderma pigmentosum</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3441" ref="tree=MeSH" title="MedGen record for Congenital chromosomal disease">Congenital chromosomal disease</a></span><ul><li><span class="TLline"><a href="/medgen/64512" ref="tree=MeSH" title="MedGen record for 11p partial monosomy syndrome">11p partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162878" ref="tree=MeSH" title="MedGen record for 11q partial monosomy syndrome">11q partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/422333" ref="tree=MeSH" title="MedGen record for 22q11 Deletion Syndrome">22q11 Deletion Syndrome</a></span></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></li><li><span class="TLline"><a href="/medgen/1843454" ref="tree=MeSH" title="MedGen record for Autosomal anomaly">Autosomal anomaly</a></span></li><li><span class="TLline"><a href="/medgen/199033" ref="tree=MeSH" title="MedGen record for Autosomal chromosomal disorder">Autosomal chromosomal disorder</a></span></li><li><span class="TLline"><a href="/medgen/2562" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome">Beckwith-Wiedemann syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78752" ref="tree=MeSH" title="MedGen record for De Lange syndrome">De Lange 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/38214" ref="tree=MeSH" title="MedGen record for Holoprosencephaly sequence">Holoprosencephaly sequence</a></span></li><li><span class="TLline"><a href="/medgen/82693" ref="tree=MeSH" title="MedGen record for Melnick-Fraser syndrome">Melnick-Fraser syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1641418" ref="tree=MeSH" title="MedGen record for Mosaic variegated aneuploidy syndrome">Mosaic variegated aneuploidy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/46057" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome">Prader-Willi syndrome</a></span></li><li><span class="TLline"><a href="/medgen/988614" ref="tree=MeSH" title="MedGen record for Ring chromosome anomaly">Ring chromosome anomaly</a></span></li><li><span class="TLline"><a href="/medgen/48517" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome">Rubinstein-Taybi syndrome</a></span></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><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></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/1384417" ref="tree=MeSH" title="MedGen record for Trisomy 18">Trisomy 18</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></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></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/98469" ref="tree=MeSH" title="MedGen record for Short thumb">Short thumb</a></span></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></li><li><span class="TLline"><a href="/medgen/52619" ref="tree=MeSH" title="MedGen record for Syndactyly">Syndactyly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/48425" ref="tree=MeSH" title="MedGen record for Congenital malformation of the respiratory system">Congenital malformation of the respiratory system</a></span><ul><li><span class="TLline"><a href="/medgen/668" ref="tree=MeSH" title="MedGen record for Bronchogenic cyst">Bronchogenic cyst</a></span></li><li><span class="TLline"><a href="/medgen/3395" ref="tree=MeSH" title="MedGen record for Choanal atresia">Choanal atresia</a></span></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></li><li><span class="TLline"><a href="/medgen/8225" ref="tree=MeSH" title="MedGen record for Congenital pulmonary airway malformation">Congenital pulmonary airway malformation</a></span></li><li><span class="TLline"><a href="/medgen/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/669" ref="tree=MeSH" title="MedGen record for Pulmonary sequestration">Pulmonary sequestration</a></span></li><li><span class="TLline"><a href="/medgen/20675" ref="tree=MeSH" title="MedGen record for Scimitar syndrome">Scimitar syndrome</a></span></li><li><span class="TLline"><a href="/medgen/266059" ref="tree=MeSH" title="MedGen record for Tracheal agenesis">Tracheal agenesis</a></span></li><li><span class="TLline"><a href="/medgen/75584" ref="tree=MeSH" title="MedGen record for Tracheal atresia">Tracheal atresia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/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></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></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></li><li><span class="TLline"><a href="/medgen/338020" ref="tree=MeSH" title="MedGen record for Exstrophy-epispadias complex">Exstrophy-epispadias complex</a></span></li><li><span class="TLline"><a href="/medgen/381473" ref="tree=MeSH" title="MedGen record for Lethal multiple pterygium syndrome">Lethal multiple pterygium syndrome</a></span></li><li><span class="TLline"><a href="/medgen/107540" ref="tree=MeSH" title="MedGen record for Pentalogy of Cantrell">Pentalogy of Cantrell</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></li></ul></li><li><span class="TLline"><a href="/medgen/3966" ref="tree=MeSH" title="MedGen record for Ectromelia">Ectromelia</a></span><ul><li><span class="TLline"><a href="/medgen/8014" ref="tree=MeSH" title="MedGen record for Amelia">Amelia</a></span></li><li><span class="TLline"><a href="/medgen/9194" ref="tree=MeSH" title="MedGen record for Hemimelia">Hemimelia</a></span></li><li><span class="TLline"><a href="/medgen/10721" ref="tree=MeSH" title="MedGen record for Phocomelia">Phocomelia</a></span></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></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></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/2685" ref="tree=MeSH" title="MedGen record for Bloom syndrome">Bloom syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75567" ref="tree=MeSH" title="MedGen record for CHARGE syndrome">CHARGE syndrome</a></span></li><li><span class="TLline"><a href="/medgen/908923" ref="tree=MeSH" title="MedGen record for Ciliopathy">Ciliopathy</a></span></li><li><span class="TLline"><a href="/medgen/40363" ref="tree=MeSH" title="MedGen record for Cockayne syndrome">Cockayne syndrome</a></span></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/108454" ref="tree=MeSH" title="MedGen record for Costello syndrome">Costello 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></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></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/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/82708" ref="tree=MeSH" title="MedGen record for Leprechaunism syndrome">Leprechaunism 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/395827" ref="tree=MeSH" title="MedGen record for Loeys-Dietz syndrome">Loeys-Dietz 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></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/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/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/9639" ref="tree=MeSH" title="MedGen record for Polycystic kidney disease">Polycystic kidney disease</a></span></li><li><span class="TLline"><a href="/medgen/39008" ref="tree=MeSH" title="MedGen record for Proteus syndrome">Proteus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/18718" ref="tree=MeSH" title="MedGen record for Prune belly syndrome">Prune belly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/11412" ref="tree=MeSH" title="MedGen record for Short rib-polydactyly syndrome">Short rib-polydactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/61231" ref="tree=MeSH" title="MedGen record for Smith-Lemli-Opitz syndrome">Smith-Lemli-Opitz syndrome</a></span></li><li><span class="TLline"><a href="/medgen/465273" ref="tree=MeSH" title="MedGen record for Visceral heterotaxy">Visceral heterotaxy</a></span></li><li><span class="TLline"><a href="/medgen/473809" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome">Waardenburg syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82705" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome">Weill-Marchesani syndrome</a></span></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></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></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></li><li><span class="TLline"><a href="/medgen/101209" ref="tree=MeSH" title="MedGen record for Maxillofacial Abnormalities">Maxillofacial Abnormalities</a></span></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></li><li><span class="TLline"><a href="/medgen/347491" ref="tree=MeSH" title="MedGen record for Orbital cleft">Orbital cleft</a></span></li><li><span class="TLline"><a href="/medgen/1648013" ref="tree=MeSH" title="MedGen record for Paramedian facial cleft">Paramedian facial cleft</a></span></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></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><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><li><span class="TLline"><a href="/medgen/8822" ref="tree=MeSH" title="MedGen record for Fetal disorder">Fetal disorder</a></span><ul><li><span class="TLline"><a href="/medgen/163385" ref="tree=MeSH" title="MedGen record for Alcohol Related Neurodevelopmental Disorder">Alcohol Related Neurodevelopmental Disorder</a></span></li><li><span class="TLline"><a href="/medgen/459973" ref="tree=MeSH" title="MedGen record for Alcohol-related birth defect">Alcohol-related birth defect</a></span></li><li><span class="TLline"><a href="/medgen/810713" ref="tree=MeSH" title="MedGen record for Angiotensin Converting Enzyme Inhibitor Fetopathy">Angiotensin Converting Enzyme Inhibitor Fetopathy</a></span></li><li><span class="TLline"><a href="/medgen/3056" ref="tree=MeSH" title="MedGen record for Chorioamnionitis">Chorioamnionitis</a></span><ul><li><span class="TLline"><a href="/medgen/823826" ref="tree=MeSH" title="MedGen record for Clinical Chorioamnionitis">Clinical Chorioamnionitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/810783" ref="tree=MeSH" title="MedGen record for Diabetic Fetopathy">Diabetic Fetopathy</a></span></li><li><span class="TLline"><a href="/medgen/266200" ref="tree=MeSH" title="MedGen record for Disorder of fetal nutrition">Disorder of fetal nutrition</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><ul><li><span class="TLline"><a href="/medgen/1863434" ref="tree=MeSH" title="MedGen record for Ductus venosus agenesis with extrahepatic drainage and liver bypass">Ductus venosus agenesis with extrahepatic drainage and liver bypass</a></span></li><li><span class="TLline"><a href="/medgen/1863708" ref="tree=MeSH" title="MedGen record for Ductus venosus agenesis with intrahepatic drainage">Ductus venosus agenesis with intrahepatic drainage</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/445312" ref="tree=MeSH" title="MedGen record for Echogenic fetal bowel">Echogenic fetal bowel</a></span><ul><li><span class="TLline"><a href="/medgen/1054437" ref="tree=MeSH" title="MedGen record for Echogenic fetal colon">Echogenic fetal colon</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/457516" ref="tree=MeSH" title="MedGen record for Fetal Alcohol Spectrum Disorder">Fetal Alcohol Spectrum Disorder</a></span></li><li><span class="TLline"><a href="/medgen/8820" ref="tree=MeSH" title="MedGen record for fetal alcohol syndrome">fetal alcohol syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98491" ref="tree=MeSH" title="MedGen record for Fetal aminopterin syndrome">Fetal aminopterin syndrome</a></span></li><li><span class="TLline"><a href="/medgen/4693" ref="tree=MeSH" title="MedGen record for Fetal growth restriction">Fetal growth restriction</a></span><ul><li><span class="TLline"><a href="/medgen/374360" ref="tree=MeSH" title="MedGen record for Mild intrauterine growth retardation">Mild intrauterine growth retardation</a></span></li><li><span class="TLline"><a href="/medgen/868956" ref="tree=MeSH" title="MedGen record for Moderate intrauterine growth retardation">Moderate intrauterine growth retardation</a></span></li><li><span class="TLline"><a href="/medgen/383783" ref="tree=MeSH" title="MedGen record for Severe intrauterine growth retardation">Severe intrauterine growth retardation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75569" ref="tree=MeSH" title="MedGen record for Fetal hydantoin syndrome">Fetal hydantoin syndrome</a></span></li><li><span class="TLline"><a href="/medgen/83884" ref="tree=MeSH" title="MedGen record for Fetal hypoxia">Fetal hypoxia</a></span></li><li><span class="TLline"><a href="/medgen/8824" ref="tree=MeSH" title="MedGen record for Fetal macrosomia">Fetal macrosomia</a></span></li><li><span class="TLline"><a href="/medgen/769787" ref="tree=MeSH" title="MedGen record for Fetal Neurodevelopmental Disorder">Fetal Neurodevelopmental Disorder</a></span></li><li><span class="TLline"><a href="/medgen/1790199" ref="tree=MeSH" title="MedGen record for Fetal Retinoid Syndrome">Fetal Retinoid Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/65922" ref="tree=MeSH" title="MedGen record for Fetal valproate syndrome">Fetal valproate syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75570" ref="tree=MeSH" title="MedGen record for Fetal warfarin syndrome">Fetal warfarin syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340926" ref="tree=MeSH" title="MedGen record for Fetus Small for Gestational Age">Fetus Small for Gestational Age</a></span><ul><li><span class="TLline"><a href="/medgen/858715" ref="tree=MeSH" title="MedGen record for Fetus Small for Gestational Age with Abdominal Circumference Less than Tenth Percentile">Fetus Small for Gestational Age with Abdominal Circumference Less than Tenth Percentile</a></span></li><li><span class="TLline"><a href="/medgen/858714" ref="tree=MeSH" title="MedGen record for Fetus Small for Gestational Age with Abnormal Doppler">Fetus Small for Gestational Age with Abnormal Doppler</a></span></li><li><span class="TLline"><a href="/medgen/858713" ref="tree=MeSH" title="MedGen record for Fetus Small for Gestational Age with Oligohydraminos">Fetus Small for Gestational Age with Oligohydraminos</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/4530" ref="tree=MeSH" title="MedGen record for Hemolytic disease of fetus OR newborn due to isoimmunization">Hemolytic disease of fetus OR newborn due to isoimmunization</a></span><ul><li><span class="TLline"><a href="/medgen/859621" ref="tree=MeSH" title="MedGen record for Anti-D Hemolytic Disease of the Newborn">Anti-D Hemolytic Disease of the Newborn</a></span></li><li><span class="TLline"><a href="/medgen/44018" ref="tree=MeSH" title="MedGen record for Bilirubin encephalopathy">Bilirubin encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/542596" ref="tree=MeSH" title="MedGen record for Hemolytic disease of fetus OR newborn due to ABO immunization">Hemolytic disease of fetus OR newborn due to ABO immunization</a></span></li><li><span class="TLline"><a href="/medgen/810688" ref="tree=MeSH" title="MedGen record for Rhesus Hemolytic Disease of the Newborn">Rhesus Hemolytic Disease of the Newborn</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6258" ref="tree=MeSH" title="MedGen record for Meconium aspiration syndrome">Meconium aspiration syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98024" ref="tree=MeSH" title="MedGen record for Nuchal cord">Nuchal cord</a></span></li><li><span class="TLline"><a href="/medgen/98490" ref="tree=MeSH" title="MedGen record for Thalidomide embryopathy">Thalidomide embryopathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/181981" ref="tree=MeSH" title="MedGen record for Inborn genetic diseases">Inborn genetic diseases</a></span><ul><li><span class="TLline"><a href="/medgen/67461" ref="tree=MeSH" title="MedGen record for Alpha-1-antitrypsin deficiency">Alpha-1-antitrypsin deficiency</a></span></li><li><span class="TLline"><a href="/medgen/439" ref="tree=MeSH" title="MedGen record for Ataxia-telangiectasia syndrome">Ataxia-telangiectasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/231300" ref="tree=MeSH" title="MedGen record for Autoimmune lymphoproliferative syndrome type 1">Autoimmune lymphoproliferative syndrome type 1</a></span><ul><li><span class="TLline"><a href="/medgen/356454" ref="tree=MeSH" title="MedGen record for Autoimmune lymphoproliferative syndrome type 1, autosomal recessive">Autoimmune lymphoproliferative syndrome type 1, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/356453" ref="tree=MeSH" title="MedGen record for Autoimmune lymphoproliferative syndrome, type 1a">Autoimmune lymphoproliferative syndrome, type 1a</a></span></li><li><span class="TLline"><a href="/medgen/356158" ref="tree=MeSH" title="MedGen record for AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB">AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB</a></span></li><li><span class="TLline"><a href="/medgen/274327" ref="tree=MeSH" title="MedGen record for Type 3 autoimmune lymphoproliferative syndrome">Type 3 autoimmune lymphoproliferative syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/222975" ref="tree=MeSH" title="MedGen record for Brugada syndrome">Brugada syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1646402" ref="tree=MeSH" title="MedGen record for Brugada syndrome 1">Brugada syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/382031" ref="tree=MeSH" title="MedGen record for Brugada syndrome 2">Brugada syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/395633" ref="tree=MeSH" title="MedGen record for Brugada syndrome 3">Brugada syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/395632" ref="tree=MeSH" title="MedGen record for Brugada syndrome 4">Brugada syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/411607" ref="tree=MeSH" title="MedGen record for Brugada syndrome 5">Brugada syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/413473" ref="tree=MeSH" title="MedGen record for Brugada syndrome 6">Brugada syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/413472" ref="tree=MeSH" title="MedGen record for Brugada syndrome 7">Brugada syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/413928" ref="tree=MeSH" title="MedGen record for Brugada syndrome 8">Brugada syndrome 8</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/199687" ref="tree=MeSH" title="MedGen record for Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy">Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy</a></span><ul><li><span class="TLline"><a href="/medgen/325051" ref="tree=MeSH" title="MedGen record for CARASIL syndrome">CARASIL syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1634330" ref="tree=MeSH" title="MedGen record for Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1">Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1</a></span></li><li><span class="TLline"><a href="/medgen/895965" ref="tree=MeSH" title="MedGen record for Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2">Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/7900" ref="tree=MeSH" title="MedGen record for Congenital adrenal hyperplasia">Congenital adrenal hyperplasia</a></span><ul><li><span class="TLline"><a href="/medgen/452446" ref="tree=MeSH" title="MedGen record for 3 beta-Hydroxysteroid dehydrogenase deficiency">3 beta-Hydroxysteroid dehydrogenase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/925006" ref="tree=MeSH" title="MedGen record for Adrenal Gland Hyperplasia II">Adrenal Gland Hyperplasia II</a></span></li><li><span class="TLline"><a href="/medgen/461449" ref="tree=MeSH" title="MedGen record for Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis">Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis</a></span></li><li><span class="TLline"><a href="/medgen/1390311" ref="tree=MeSH" title="MedGen record for Classic congenital adrenal hyperplasia">Classic congenital adrenal hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/424833" ref="tree=MeSH" title="MedGen record for Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency">Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/348008" ref="tree=MeSH" title="MedGen record for Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency">Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/83341" ref="tree=MeSH" title="MedGen record for Congenital lipoid adrenal hyperplasia due to STAR deficency">Congenital lipoid adrenal hyperplasia due to STAR deficency</a></span></li><li><span class="TLline"><a href="/medgen/82783" ref="tree=MeSH" title="MedGen record for Deficiency of steroid 11-beta-monooxygenase">Deficiency of steroid 11-beta-monooxygenase</a></span></li><li><span class="TLline"><a href="/medgen/82782" ref="tree=MeSH" title="MedGen record for Deficiency of steroid 17-alpha-monooxygenase">Deficiency of steroid 17-alpha-monooxygenase</a></span></li><li><span class="TLline"><a href="/medgen/137971" ref="tree=MeSH" title="MedGen record for Macronodular adrenal hyperplasia">Macronodular adrenal hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/575066" ref="tree=MeSH" title="MedGen record for Micronodular adrenal hyperplasia">Micronodular adrenal hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/926241" ref="tree=MeSH" title="MedGen record for Multinodular Adrenal Hyperplasia">Multinodular Adrenal Hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/90982" ref="tree=MeSH" title="MedGen record for Non-classic congenital adrenal hyperplasia">Non-classic congenital adrenal hyperplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1899" ref="tree=MeSH" title="MedGen record for Congenital Indifference to Pain">Congenital Indifference to Pain</a></span></li><li><span class="TLline"><a href="/medgen/155650" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndrome">Congenital myasthenic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/468519" ref="tree=MeSH" title="MedGen record for CHRNA1-Related Congenital Myasthenic Syndrome">CHRNA1-Related Congenital Myasthenic Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/400481" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndrome 5">Congenital myasthenic syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/376880" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndrome 10">Congenital myasthenic syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/902189" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndrome 11">Congenital myasthenic syndrome 11</a></span></li><li><span class="TLline"><a href="/medgen/765249" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndrome 12">Congenital myasthenic syndrome 12</a></span></li><li><span class="TLline"><a href="/medgen/481742" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndrome 16">Congenital myasthenic syndrome 16</a></span></li><li><span class="TLline"><a href="/medgen/373251" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndrome 4C">Congenital myasthenic syndrome 4C</a></span></li><li><span class="TLline"><a href="/medgen/1842196" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndromes with glycosylation defect">Congenital myasthenic syndromes with glycosylation defect</a></span></li><li><span class="TLline"><a href="/medgen/140751" ref="tree=MeSH" title="MedGen record for Familial infantile myasthenia">Familial infantile myasthenia</a></span></li><li><span class="TLline"><a href="/medgen/199759" ref="tree=MeSH" title="MedGen record for Myasthenic syndrome, slow-channel congenital">Myasthenic syndrome, slow-channel congenital</a></span></li><li><span class="TLline"><a href="/medgen/199758" ref="tree=MeSH" title="MedGen record for Postsynaptic congenital myasthenic syndrome">Postsynaptic congenital myasthenic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/155651" ref="tree=MeSH" title="MedGen record for Presynaptic congenital myasthenic syndrome">Presynaptic congenital myasthenic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1843272" ref="tree=MeSH" title="MedGen record for Synaptic congenital myasthenic syndromes">Synaptic congenital myasthenic syndromes</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/41393" ref="tree=MeSH" title="MedGen record for Cystic fibrosis">Cystic fibrosis</a></span><ul><li><span class="TLline"><a href="/medgen/639765" ref="tree=MeSH" title="MedGen record for Cystic fibrosis associated meconium ileus">Cystic fibrosis associated meconium ileus</a></span></li><li><span class="TLline"><a href="/medgen/888330" ref="tree=MeSH" title="MedGen record for Cystic Fibrosis Pulmonary Exacerbation">Cystic Fibrosis Pulmonary Exacerbation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/4268" ref="tree=MeSH" title="MedGen record for Diaphyseal dysplasia">Diaphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1919" ref="tree=MeSH" title="MedGen record for Familial hemolytic anemia">Familial hemolytic anemia</a></span><ul><li><span class="TLline"><a href="/medgen/543748" ref="tree=MeSH" title="MedGen record for Anemia due to membrane defect">Anemia due to membrane defect</a></span></li><li><span class="TLline"><a href="/medgen/8064" ref="tree=MeSH" title="MedGen record for Congenital dyserythropoietic anemia">Congenital dyserythropoietic anemia</a></span></li><li><span class="TLline"><a href="/medgen/284" ref="tree=MeSH" title="MedGen record for Congenital nonspherocytic hemolytic anemia">Congenital nonspherocytic hemolytic anemia</a></span></li><li><span class="TLline"><a href="/medgen/473706" ref="tree=MeSH" title="MedGen record for G6PD deficiency">G6PD deficiency</a></span></li><li><span class="TLline"><a href="/medgen/287" ref="tree=MeSH" title="MedGen record for Hb SS disease">Hb SS disease</a></span></li><li><span class="TLline"><a href="/medgen/6789" ref="tree=MeSH" title="MedGen record for Hemoglobin C disease">Hemoglobin C disease</a></span></li><li><span class="TLline"><a href="/medgen/41747" ref="tree=MeSH" title="MedGen record for Hereditary elliptocytosis">Hereditary elliptocytosis</a></span></li><li><span class="TLline"><a href="/medgen/52450" ref="tree=MeSH" title="MedGen record for Hereditary spherocytosis">Hereditary spherocytosis</a></span></li><li><span class="TLline"><a href="/medgen/21121" ref="tree=MeSH" title="MedGen record for Thalassemia">Thalassemia</a></span></li><li><span class="TLline"><a href="/medgen/349893" ref="tree=MeSH" title="MedGen record for Triosephosphate isomerase deficiency">Triosephosphate isomerase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/698553" ref="tree=MeSH" title="MedGen record for Familial multiple lipomatosis">Familial multiple lipomatosis</a></span></li><li><span class="TLline"><a href="/medgen/40219" ref="tree=MeSH" title="MedGen record for Fibrous dysplasia of jaw">Fibrous dysplasia of jaw</a></span></li><li><span class="TLline"><a href="/medgen/215533" ref="tree=MeSH" title="MedGen record for Frasier syndrome">Frasier syndrome</a></span></li><li><span class="TLline"><a href="/medgen/42400" ref="tree=MeSH" title="MedGen record for Hemoglobinopathy">Hemoglobinopathy</a></span><ul><li><span class="TLline"><a href="/medgen/124416" ref="tree=MeSH" title="MedGen record for Hemoglobin D disease">Hemoglobin D disease</a></span></li><li><span class="TLline"><a href="/medgen/68658" ref="tree=MeSH" title="MedGen record for Hemoglobin E disease">Hemoglobin E disease</a></span></li><li><span class="TLline"><a href="/medgen/459439" ref="tree=MeSH" title="MedGen record for Hemoglobin Trait">Hemoglobin Trait</a></span></li><li><span class="TLline"><a href="/medgen/452211" ref="tree=MeSH" title="MedGen record for Sickle cell-beta-thalassemia">Sickle cell-beta-thalassemia</a></span></li><li><span class="TLline"><a href="/medgen/5496" ref="tree=MeSH" title="MedGen record for Sickle cell-hemoglobin C disease">Sickle cell-hemoglobin C disease</a></span></li><li><span class="TLline"><a href="/medgen/452366" ref="tree=MeSH" title="MedGen record for Sickle cell-hemoglobin D disease">Sickle cell-hemoglobin D disease</a></span></li><li><span class="TLline"><a href="/medgen/1669602" ref="tree=MeSH" title="MedGen record for Sickle cell-hemoglobin E disease syndrome">Sickle cell-hemoglobin E disease syndrome</a></span></li><li><span class="TLline"><a href="/medgen/468528" ref="tree=MeSH" title="MedGen record for Sickle cell-Hemoglobin O Arab disease">Sickle cell-Hemoglobin O Arab disease</a></span></li><li><span class="TLline"><a href="/medgen/389211" ref="tree=MeSH" title="MedGen record for Sickle cell-thalassemia disease">Sickle cell-thalassemia disease</a></span></li><li><span class="TLline"><a href="/medgen/883122" ref="tree=MeSH" title="MedGen record for Vaso-Occlusive Crisis">Vaso-Occlusive Crisis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/14326" ref="tree=MeSH" title="MedGen record for Hereditary cancer-predisposing syndrome">Hereditary cancer-predisposing syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/436213" ref="tree=MeSH" title="MedGen record for Attenuated familial adenomatous polyposis">Attenuated familial adenomatous polyposis</a></span></li><li><span class="TLline"><a href="/medgen/3937" ref="tree=MeSH" title="MedGen record for B-K mole (nevus) syndrome">B-K mole (nevus) syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1631254" ref="tree=MeSH" title="MedGen record for BAP1 Tumor Predisposition Syndrome">BAP1 Tumor Predisposition Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/482122" ref="tree=MeSH" title="MedGen record for BAP1-related tumor predisposition syndrome">BAP1-related tumor predisposition syndrome</a></span></li><li><span class="TLline"><a href="/medgen/91070" ref="tree=MeSH" title="MedGen record for Birt-Hogg-Dube syndrome">Birt-Hogg-Dube syndrome</a></span></li><li><span class="TLline"><a href="/medgen/83401" ref="tree=MeSH" title="MedGen record for Blue rubber bleb nevus">Blue rubber bleb nevus</a></span></li><li><span class="TLline"><a href="/medgen/376098" ref="tree=MeSH" title="MedGen record for Carney-Stratakis syndrome">Carney-Stratakis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1791437" ref="tree=MeSH" title="MedGen record for CDC73-Related Neoplastic Syndrome">CDC73-Related Neoplastic Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1779168" ref="tree=MeSH" title="MedGen record for CDH1-Associated Breast Carcinoma Syndrome">CDH1-Associated Breast Carcinoma Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/91079" ref="tree=MeSH" title="MedGen record for Cobb syndrome">Cobb syndrome</a></span></li><li><span class="TLline"><a href="/medgen/816383" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency due to OX40 deficiency">Combined immunodeficiency due to OX40 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/40407" ref="tree=MeSH" title="MedGen record for Common variable immunodeficiency">Common variable immunodeficiency</a></span></li><li><span class="TLline"><a href="/medgen/1378836" ref="tree=MeSH" title="MedGen record for Constitutional mismatch repair deficiency syndrome">Constitutional mismatch repair deficiency syndrome</a></span></li><li><span class="TLline"><a href="/medgen/5420" ref="tree=MeSH" title="MedGen record for Cowden syndrome">Cowden syndrome</a></span></li><li><span class="TLline"><a href="/medgen/41775" ref="tree=MeSH" title="MedGen record for Enchondromatosis">Enchondromatosis</a></span></li><li><span class="TLline"><a href="/medgen/41831" ref="tree=MeSH" title="MedGen record for Epidermodysplasia verruciformis">Epidermodysplasia verruciformis</a></span></li><li><span class="TLline"><a href="/medgen/86230" ref="tree=MeSH" title="MedGen record for Euthyroid goiter">Euthyroid goiter</a></span></li><li><span class="TLline"><a href="/medgen/474474" ref="tree=MeSH" title="MedGen record for Familial adenomatous polyposis 2">Familial adenomatous polyposis 2</a></span></li><li><span class="TLline"><a href="/medgen/389220" ref="tree=MeSH" title="MedGen record for Familial atypical multiple mole melanoma syndrome">Familial atypical multiple mole melanoma syndrome</a></span></li><li><span class="TLline"><a href="/medgen/482833" ref="tree=MeSH" title="MedGen record for Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome">Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome</a></span></li><li><span class="TLline"><a href="/medgen/46010" ref="tree=MeSH" title="MedGen record for Familial multiple polyposis syndrome">Familial multiple polyposis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1657285" ref="tree=MeSH" title="MedGen record for Gastric adenocarcinoma and proximal polyposis of the stomach">Gastric adenocarcinoma and proximal polyposis of the stomach</a></span></li><li><span class="TLline"><a href="/medgen/436218" ref="tree=MeSH" title="MedGen record for Gastrointestinal stromal tumor, familial">Gastrointestinal stromal tumor, familial</a></span></li><li><span class="TLline"><a href="/medgen/1677024" ref="tree=MeSH" title="MedGen record for GCGR-related hyperglucagonemia">GCGR-related hyperglucagonemia</a></span></li><li><span class="TLline"><a href="/medgen/151793" ref="tree=MeSH" title="MedGen record for Hereditary breast ovarian cancer syndrome">Hereditary breast ovarian cancer syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1712465" ref="tree=MeSH" title="MedGen record for Hereditary Colorectal Cancer Syndrome">Hereditary Colorectal Cancer Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/353771" ref="tree=MeSH" title="MedGen record for Hereditary leiomyomatosis and renal cell cancer">Hereditary leiomyomatosis and renal cell cancer</a></span></li><li><span class="TLline"><a href="/medgen/1711283" ref="tree=MeSH" title="MedGen record for Hereditary Myelodysplastic Syndrome">Hereditary Myelodysplastic Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/40399" ref="tree=MeSH" title="MedGen record for Hereditary nonpolyposis colorectal neoplasms">Hereditary nonpolyposis colorectal neoplasms</a></span></li><li><span class="TLline"><a href="/medgen/313270" ref="tree=MeSH" title="MedGen record for Hereditary pheochromocytoma-paraganglioma">Hereditary pheochromocytoma-paraganglioma</a></span></li><li><span class="TLline"><a href="/medgen/155869" ref="tree=MeSH" title="MedGen record for Hereditary retinoblastoma">Hereditary retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/458917" ref="tree=MeSH" title="MedGen record for Inherited bone marrow failure syndrome">Inherited bone marrow failure syndrome</a></span></li><li><span class="TLline"><a href="/medgen/87518" ref="tree=MeSH" title="MedGen record for Juvenile polyposis syndrome">Juvenile polyposis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1713491" ref="tree=MeSH" title="MedGen record for Kostmann syndrome">Kostmann syndrome</a></span></li><li><span class="TLline"><a href="/medgen/88399" ref="tree=MeSH" title="MedGen record for Li-Fraumeni syndrome">Li-Fraumeni syndrome</a></span></li><li><span class="TLline"><a href="/medgen/7437" ref="tree=MeSH" title="MedGen record for Maffucci syndrome">Maffucci syndrome</a></span></li><li><span class="TLline"><a href="/medgen/331890" ref="tree=MeSH" title="MedGen record for Melanoma and neural system tumor syndrome">Melanoma and neural system tumor syndrome</a></span></li><li><span class="TLline"><a href="/medgen/463554" ref="tree=MeSH" title="MedGen record for Melanoma, cutaneous malignant, susceptibility to, 8">Melanoma, cutaneous malignant, susceptibility to, 8</a></span></li><li><span class="TLline"><a href="/medgen/325450" ref="tree=MeSH" title="MedGen record for Melanoma-pancreatic cancer syndrome">Melanoma-pancreatic cancer syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1748029" ref="tree=MeSH" title="MedGen record for Mismatch repair cancer syndrome 1">Mismatch repair cancer syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/381529" ref="tree=MeSH" title="MedGen record for Monosomy 7 myelodysplasia and leukemia syndrome 1">Monosomy 7 myelodysplasia and leukemia syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/4612" ref="tree=MeSH" title="MedGen record for Multiple congenital exostosis">Multiple congenital exostosis</a></span></li><li><span class="TLline"><a href="/medgen/45036" ref="tree=MeSH" title="MedGen record for Multiple endocrine neoplasia">Multiple endocrine neoplasia</a></span></li><li><span class="TLline"><a href="/medgen/83396" ref="tree=MeSH" title="MedGen record for Multiple Self Healing Epithelioma of Ferguson-Smith">Multiple Self Healing Epithelioma of Ferguson-Smith</a></span></li><li><span class="TLline"><a href="/medgen/10221" ref="tree=MeSH" title="MedGen record for Nephroblastoma">Nephroblastoma</a></span></li><li><span class="TLline"><a href="/medgen/82706" ref="tree=MeSH" title="MedGen record for Neurocutaneous syndrome">Neurocutaneous syndrome</a></span></li><li><span class="TLline"><a href="/medgen/58149" ref="tree=MeSH" title="MedGen record for Neurofibromatosis">Neurofibromatosis</a></span></li><li><span class="TLline"><a href="/medgen/18013" ref="tree=MeSH" title="MedGen record for Neurofibromatosis, type 1">Neurofibromatosis, type 1</a></span></li><li><span class="TLline"><a href="/medgen/18014" ref="tree=MeSH" title="MedGen record for Neurofibromatosis, type 2">Neurofibromatosis, type 2</a></span></li><li><span class="TLline"><a href="/medgen/324338" ref="tree=MeSH" title="MedGen record for Palmoplantar keratoderma-esophageal carcinoma syndrome">Palmoplantar keratoderma-esophageal carcinoma syndrome</a></span></li><li><span class="TLline"><a href="/medgen/18404" ref="tree=MeSH" title="MedGen record for Peutz-Jeghers syndrome">Peutz-Jeghers 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/1687472" ref="tree=MeSH" title="MedGen record for Polymerase proofreading associated polyposis">Polymerase proofreading associated polyposis</a></span></li><li><span class="TLline"><a href="/medgen/863898" ref="tree=MeSH" title="MedGen record for Progeroid features-hepatocellular carcinoma predisposition syndrome">Progeroid features-hepatocellular carcinoma predisposition syndrome</a></span></li><li><span class="TLline"><a href="/medgen/368366" ref="tree=MeSH" title="MedGen record for PTEN hamartoma tumor syndrome">PTEN hamartoma tumor syndrome</a></span></li><li><span class="TLline"><a href="/medgen/457750" ref="tree=MeSH" title="MedGen record for Rhabdoid tumor predisposition syndrome">Rhabdoid tumor predisposition syndrome</a></span></li><li><span class="TLline"><a href="/medgen/95931" ref="tree=MeSH" title="MedGen record for Roberts-SC phocomelia syndrome">Roberts-SC phocomelia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/234775" ref="tree=MeSH" title="MedGen record for Schwannomatosis">Schwannomatosis</a></span></li><li><span class="TLline"><a href="/medgen/22518" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis syndrome">Tuberous sclerosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1799992" ref="tree=MeSH" title="MedGen record for Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome">Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/12147" ref="tree=MeSH" title="MedGen record for Werner syndrome">Werner syndrome</a></span></li><li><span class="TLline"><a href="/medgen/382718" ref="tree=MeSH" title="MedGen record for Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome">Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome</a></span></li><li><span class="TLline"><a href="/medgen/21921" ref="tree=MeSH" title="MedGen record for Wiskott-Aldrich syndrome">Wiskott-Aldrich syndrome</a></span></li><li><span class="TLline"><a href="/medgen/65123" ref="tree=MeSH" title="MedGen record for X-linked agammaglobulinemia">X-linked agammaglobulinemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/41933" ref="tree=MeSH" title="MedGen record for Hereditary eye diseases">Hereditary eye diseases</a></span><ul><li><span class="TLline"><a href="/medgen/182" ref="tree=MeSH" title="MedGen record for Albinism">Albinism</a></span></li><li><span class="TLline"><a href="/medgen/944" ref="tree=MeSH" title="MedGen record for Choroideremia">Choroideremia</a></span></li><li><span class="TLline"><a href="/medgen/676499" ref="tree=MeSH" title="MedGen record for Cone dystrophy">Cone dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/896366" ref="tree=MeSH" title="MedGen record for Cone-rod dystrophy">Cone-rod dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/4413" ref="tree=MeSH" title="MedGen record for Duane retraction syndrome">Duane retraction syndrome</a></span></li><li><span class="TLline"><a href="/medgen/3618" ref="tree=MeSH" title="MedGen record for Hereditary corneal dystrophy">Hereditary corneal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/45207" ref="tree=MeSH" title="MedGen record for Hereditary optic atrophy">Hereditary optic atrophy</a></span></li><li><span class="TLline"><a href="/medgen/137922" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis">Leber congenital amaurosis</a></span></li><li><span class="TLline"><a href="/medgen/6695" ref="tree=MeSH" title="MedGen record for Ornithine aminotransferase deficiency">Ornithine aminotransferase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/48432" ref="tree=MeSH" title="MedGen record for Retinal degeneration">Retinal degeneration</a></span></li><li><span class="TLline"><a href="/medgen/20551" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa">Retinitis pigmentosa</a></span></li><li><span class="TLline"><a href="/medgen/20552" ref="tree=MeSH" title="MedGen record for Retinoblastoma">Retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/75734" ref="tree=MeSH" title="MedGen record for Stargardt disease">Stargardt disease</a></span></li><li><span class="TLline"><a href="/medgen/83281" ref="tree=MeSH" title="MedGen record for Thyroid eye disease">Thyroid eye disease</a></span></li><li><span class="TLline"><a href="/medgen/137920" ref="tree=MeSH" title="MedGen record for Vitelliform macular dystrophy">Vitelliform macular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/75553" ref="tree=MeSH" title="MedGen record for Walker-Warburg congenital muscular dystrophy">Walker-Warburg congenital muscular dystrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/199651" ref="tree=MeSH" title="MedGen record for Hereditary periodic fever syndrome">Hereditary periodic fever syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/934581" ref="tree=MeSH" title="MedGen record for Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive">Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/2568" ref="tree=MeSH" title="MedGen record for Behcet disease">Behcet disease</a></span></li><li><span class="TLline"><a href="/medgen/1799987" ref="tree=MeSH" title="MedGen record for CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome">CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome</a></span></li><li><span class="TLline"><a href="/medgen/412215" ref="tree=MeSH" title="MedGen record for Cryopyrin associated periodic syndrome">Cryopyrin associated periodic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/87453" ref="tree=MeSH" title="MedGen record for Deficiency of mevalonate kinase">Deficiency of mevalonate kinase</a></span></li><li><span class="TLline"><a href="/medgen/435869" ref="tree=MeSH" title="MedGen record for Familial cold autoinflammatory syndrome 2">Familial cold autoinflammatory syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/863713" ref="tree=MeSH" title="MedGen record for Familial cold autoinflammatory syndrome 4">Familial cold autoinflammatory syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/45811" ref="tree=MeSH" title="MedGen record for Familial Mediterranean fever">Familial Mediterranean fever</a></span></li><li><span class="TLline"><a href="/medgen/863504" ref="tree=MeSH" title="MedGen record for Periodic fever-infantile enterocolitis-autoinflammatory syndrome">Periodic fever-infantile enterocolitis-autoinflammatory syndrome</a></span></li><li><span class="TLline"><a href="/medgen/226899" ref="tree=MeSH" title="MedGen record for TNF receptor-associated periodic fever syndrome (TRAPS)">TNF receptor-associated periodic fever syndrome (TRAPS)</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/155945" ref="tree=MeSH" title="MedGen record for Heredodegenerative Disorders, Nervous System">Heredodegenerative Disorders, Nervous System</a></span><ul><li><span class="TLline"><a href="/medgen/78724" ref="tree=MeSH" title="MedGen record for Alexander disease">Alexander disease</a></span></li><li><span class="TLline"><a href="/medgen/10158" ref="tree=MeSH" title="MedGen record for Batten-Turner congenital myopathy">Batten-Turner congenital myopathy</a></span></li><li><span class="TLline"><a href="/medgen/98277" ref="tree=MeSH" title="MedGen record for Chorea-acanthocytosis">Chorea-acanthocytosis</a></span></li><li><span class="TLline"><a href="/medgen/104815" ref="tree=MeSH" title="MedGen record for Familial amyloid neuropathy">Familial amyloid neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/4886" ref="tree=MeSH" title="MedGen record for Gerstmann-Straussler-Scheinker syndrome">Gerstmann-Straussler-Scheinker syndrome</a></span></li><li><span class="TLline"><a href="/medgen/148407" ref="tree=MeSH" title="MedGen record for Hereditary Central Nervous System Demyelinating Diseases">Hereditary Central Nervous System Demyelinating Diseases</a></span></li><li><span class="TLline"><a href="/medgen/5654" ref="tree=MeSH" title="MedGen record for Huntington disease">Huntington disease</a></span></li><li><span class="TLline"><a href="/medgen/333282" ref="tree=MeSH" title="MedGen record for Kennedy disease">Kennedy disease</a></span></li><li><span class="TLline"><a href="/medgen/155631" ref="tree=MeSH" title="MedGen record for Lafora disease">Lafora disease</a></span></li><li><span class="TLline"><a href="/medgen/10239" ref="tree=MeSH" title="MedGen record for Myotonic dystrophy">Myotonic dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/10326" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis">Neuronal ceroid lipofuscinosis</a></span></li><li><span class="TLline"><a href="/medgen/6708" ref="tree=MeSH" title="MedGen record for Pigmentary pallidal degeneration">Pigmentary pallidal degeneration</a></span></li><li><span class="TLline"><a href="/medgen/148615" ref="tree=MeSH" title="MedGen record for Spinal Muscular Atrophy of Childhood">Spinal Muscular Atrophy of Childhood</a></span></li><li><span class="TLline"><a href="/medgen/11554" ref="tree=MeSH" title="MedGen record for spinocerebellar disease">spinocerebellar disease</a></span></li><li><span class="TLline"><a href="/medgen/61565" ref="tree=MeSH" title="MedGen record for Spongy degeneration of central nervous system">Spongy degeneration of central nervous system</a></span></li><li><span class="TLline"><a href="/medgen/3941" ref="tree=MeSH" title="MedGen record for Torsion dystonia">Torsion dystonia</a></span></li><li><span class="TLline"><a href="/medgen/21219" ref="tree=MeSH" title="MedGen record for Tourette syndrome">Tourette syndrome</a></span></li><li><span class="TLline"><a href="/medgen/155923" ref="tree=MeSH" title="MedGen record for Unverricht-Lundborg syndrome">Unverricht-Lundborg syndrome</a></span></li><li><span class="TLline"><a href="/medgen/42426" ref="tree=MeSH" title="MedGen record for Wilson disease">Wilson disease</a></span></li><li><span class="TLline"><a href="/medgen/211749" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability">X-linked intellectual disability</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/124420" ref="tree=MeSH" title="MedGen record for Hyperimmunoglobulin M syndrome">Hyperimmunoglobulin M syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/96019" ref="tree=MeSH" title="MedGen record for Hyper-IgM syndrome type 1">Hyper-IgM syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/354548" ref="tree=MeSH" title="MedGen record for Hyper-IgM syndrome type 2">Hyper-IgM syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/328419" ref="tree=MeSH" title="MedGen record for Hyper-IgM syndrome type 3">Hyper-IgM syndrome type 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/90974" ref="tree=MeSH" title="MedGen record for Hyperthyroxinemia, familial dysalbuminemic">Hyperthyroxinemia, familial dysalbuminemic</a></span></li><li><span class="TLline"><a href="/medgen/102469" ref="tree=MeSH" title="MedGen record for Hypogonadism with anosmia">Hypogonadism with anosmia</a></span><ul><li><span class="TLline"><a href="/medgen/295872" ref="tree=MeSH" title="MedGen record for Hypogonadotropic hypogonadism 1 with or without anosmia">Hypogonadotropic hypogonadism 1 with or without anosmia</a></span></li><li><span class="TLline"><a href="/medgen/289648" ref="tree=MeSH" title="MedGen record for Hypogonadotropic hypogonadism 2 with or without anosmia">Hypogonadotropic hypogonadism 2 with or without anosmia</a></span></li><li><span class="TLline"><a href="/medgen/763392" ref="tree=MeSH" title="MedGen record for Hypogonadotropic hypogonadism 3 with or without anosmia">Hypogonadotropic hypogonadism 3 with or without anosmia</a></span></li><li><span class="TLline"><a href="/medgen/765257" ref="tree=MeSH" title="MedGen record for Hypogonadotropic hypogonadism 4 with or without anosmia">Hypogonadotropic hypogonadism 4 with or without anosmia</a></span></li><li><span class="TLline"><a href="/medgen/765467" ref="tree=MeSH" title="MedGen record for Hypogonadotropic hypogonadism 5 with or without anosmia">Hypogonadotropic hypogonadism 5 with or without anosmia</a></span></li><li><span class="TLline"><a href="/medgen/765488" ref="tree=MeSH" title="MedGen record for Hypogonadotropic hypogonadism 6 with or without anosmia">Hypogonadotropic hypogonadism 6 with or without anosmia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/182696" ref="tree=MeSH" title="MedGen record for Hypoplastic anemia - familial">Hypoplastic anemia - familial</a></span><ul><li><span class="TLline"><a href="/medgen/266045" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia">Diamond-Blackfan anemia</a></span></li><li><span class="TLline"><a href="/medgen/41967" ref="tree=MeSH" title="MedGen record for Fanconi anemia">Fanconi anemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/585013" ref="tree=MeSH" title="MedGen record for Inborn error of immunity">Inborn error of immunity</a></span><ul><li><span class="TLline"><a href="/medgen/3347" ref="tree=MeSH" title="MedGen record for Chédiak-Higashi syndrome">Chédiak-Higashi syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1676096" ref="tree=MeSH" title="MedGen record for Hereditary Complement Deficiency Diseases">Hereditary Complement Deficiency Diseases</a></span></li><li><span class="TLline"><a href="/medgen/854488" ref="tree=MeSH" title="MedGen record for Hyper-IgE syndrome">Hyper-IgE syndrome</a></span></li><li><span class="TLline"><a href="/medgen/66116" ref="tree=MeSH" title="MedGen record for Leukocyte-Adhesion Deficiency Syndrome">Leukocyte-Adhesion Deficiency Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/88328" ref="tree=MeSH" title="MedGen record for Severe combined immunodeficiency disease">Severe combined immunodeficiency disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6323" ref="tree=MeSH" title="MedGen record for Inborn errors of metabolism">Inborn errors of metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/412535" ref="tree=MeSH" title="MedGen record for 2-hydroxyglutaric aciduria">2-hydroxyglutaric aciduria</a></span></li><li><span class="TLline"><a href="/medgen/199725" ref="tree=MeSH" title="MedGen record for Amino Acid Transport Disorders, Inborn">Amino Acid Transport Disorders, Inborn</a></span></li><li><span class="TLline"><a href="/medgen/66323" ref="tree=MeSH" title="MedGen record for Biotinidase deficiency">Biotinidase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/156005" ref="tree=MeSH" title="MedGen record for Brain Diseases, Metabolic, Inborn">Brain Diseases, Metabolic, Inborn</a></span></li><li><span class="TLline"><a href="/medgen/67438" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy">Congenital generalized lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/75662" ref="tree=MeSH" title="MedGen record for Cytochrome-c oxidase deficiency">Cytochrome-c oxidase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/489898" ref="tree=MeSH" title="MedGen record for Deficiency of bisphosphoglycerate mutase">Deficiency of bisphosphoglycerate mutase</a></span></li><li><span class="TLline"><a href="/medgen/713875" ref="tree=MeSH" title="MedGen record for Deficiency of enolase">Deficiency of enolase</a></span></li><li><span class="TLline"><a href="/medgen/584936" ref="tree=MeSH" title="MedGen record for Deficiency of hexokinase">Deficiency of hexokinase</a></span></li><li><span class="TLline"><a href="/medgen/409522" ref="tree=MeSH" title="MedGen record for Dihydropyrimidine dehydrogenase deficiency">Dihydropyrimidine dehydrogenase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/468982" ref="tree=MeSH" title="MedGen record for Disorder of organic acid metabolism">Disorder of organic acid metabolism</a></span></li><li><span class="TLline"><a href="/medgen/57586" ref="tree=MeSH" title="MedGen record for Disorder of the urea cycle metabolism">Disorder of the urea cycle metabolism</a></span></li><li><span class="TLline"><a href="/medgen/479882" ref="tree=MeSH" title="MedGen record for Erythrocyte Adenylate Kinase Deficiency">Erythrocyte Adenylate Kinase Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/360297" ref="tree=MeSH" title="MedGen record for Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome">Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/42106" ref="tree=MeSH" title="MedGen record for Fructose-biphosphatase deficiency">Fructose-biphosphatase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/8943" ref="tree=MeSH" title="MedGen record for Galactosemia">Galactosemia</a></span></li><li><span class="TLline"><a href="/medgen/584934" ref="tree=MeSH" title="MedGen record for Glucose phosphate isomerase deficiency">Glucose phosphate isomerase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1790766" ref="tree=MeSH" title="MedGen record for Glucose-6-Phosphatase 3 Deficiency">Glucose-6-Phosphatase 3 Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/97988" ref="tree=MeSH" title="MedGen record for Glutathione synthetase deficiency with 5-oxoprolinuria">Glutathione synthetase deficiency with 5-oxoprolinuria</a></span></li><li><span class="TLline"><a href="/medgen/6639" ref="tree=MeSH" title="MedGen record for Glycogen storage disease">Glycogen storage disease</a></span></li><li><span class="TLline"><a href="/medgen/410166" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to phosphoglycerate kinase 1 deficiency">Glycogen storage disease due to phosphoglycerate kinase 1 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/148146" ref="tree=MeSH" title="MedGen record for Hereditary amyloidosis">Hereditary amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/42105" ref="tree=MeSH" title="MedGen record for Hereditary fructosuria">Hereditary fructosuria</a></span></li><li><span class="TLline"><a href="/medgen/6963" ref="tree=MeSH" title="MedGen record for Hereditary hyperbilirubinemia">Hereditary hyperbilirubinemia</a></span></li><li><span class="TLline"><a href="/medgen/472940" ref="tree=MeSH" title="MedGen record for Hereditary orotic aciduria">Hereditary orotic aciduria</a></span></li><li><span class="TLline"><a href="/medgen/1391920" ref="tree=MeSH" title="MedGen record for Hexose-6-phosphate Dehydrogenase Deficiency">Hexose-6-phosphate Dehydrogenase Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/120653" ref="tree=MeSH" title="MedGen record for Holocarboxylase synthetase deficiency">Holocarboxylase synthetase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/46123" ref="tree=MeSH" title="MedGen record for Hutchinson-Gilford syndrome">Hutchinson-Gilford syndrome</a></span></li><li><span class="TLline"><a href="/medgen/2825" ref="tree=MeSH" title="MedGen record for Inborn carbohydrate metabolic disorder">Inborn carbohydrate metabolic disorder</a></span></li><li><span class="TLline"><a href="/medgen/48263" ref="tree=MeSH" title="MedGen record for Inborn disorder of purine or pyrimidine metabolism">Inborn disorder of purine or pyrimidine metabolism</a></span></li><li><span class="TLline"><a href="/medgen/1867" ref="tree=MeSH" title="MedGen record for Inborn error of amino acid metabolism">Inborn error of amino acid metabolism</a></span></li><li><span class="TLline"><a href="/medgen/6325" ref="tree=MeSH" title="MedGen record for Inborn metal metabolism disorder">Inborn metal metabolism disorder</a></span></li><li><span class="TLline"><a href="/medgen/57587" ref="tree=MeSH" title="MedGen record for Inherited lipid metabolism disorder">Inherited lipid metabolism disorder</a></span></li><li><span class="TLline"><a href="/medgen/474863" ref="tree=MeSH" title="MedGen record for Intermediary Metabolism Disorder">Intermediary Metabolism Disorder</a></span></li><li><span class="TLline"><a href="/medgen/6106" ref="tree=MeSH" title="MedGen record for Lipid Metabolism, Inborn Errors">Lipid Metabolism, Inborn Errors</a></span></li><li><span class="TLline"><a href="/medgen/43098" ref="tree=MeSH" title="MedGen record for Lysosomal storage disease">Lysosomal storage disease</a></span></li><li><span class="TLline"><a href="/medgen/120654" ref="tree=MeSH" title="MedGen record for Methylmalonic acidemia">Methylmalonic acidemia</a></span></li><li><span class="TLline"><a href="/medgen/75696" ref="tree=MeSH" title="MedGen record for Multiple acyl-CoA dehydrogenase deficiency">Multiple acyl-CoA dehydrogenase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/9698" ref="tree=MeSH" title="MedGen record for Norum disease">Norum disease</a></span></li><li><span class="TLline"><a href="/medgen/129185" ref="tree=MeSH" title="MedGen record for Peroxisomal disorder">Peroxisomal disorder</a></span></li><li><span class="TLline"><a href="/medgen/1737580" ref="tree=MeSH" title="MedGen record for PIGA Deficiency">PIGA Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/19610" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase complex deficiency">Pyruvate dehydrogenase complex deficiency</a></span></li><li><span class="TLline"><a href="/medgen/473069" ref="tree=MeSH" title="MedGen record for Pyruvate kinase deficiency of red cells">Pyruvate kinase deficiency of red cells</a></span></li><li><span class="TLline"><a href="/medgen/19728" ref="tree=MeSH" title="MedGen record for Renal tubular transport disease">Renal tubular transport disease</a></span></li><li><span class="TLline"><a href="/medgen/219772" ref="tree=MeSH" title="MedGen record for Steroid inherited metabolic disorder">Steroid inherited metabolic disorder</a></span></li><li><span class="TLline"><a href="/medgen/220924" ref="tree=MeSH" title="MedGen record for Sucrase-isomaltase deficiency">Sucrase-isomaltase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/574095" ref="tree=MeSH" title="MedGen record for Uridine monophosphate hydrolase deficiency">Uridine monophosphate hydrolase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/163105" ref="tree=MeSH" title="MedGen record for Inherited blood coagulation disorder">Inherited blood coagulation disorder</a></span><ul><li><span class="TLline"><a href="/medgen/7919" ref="tree=MeSH" title="MedGen record for Afibrinogenemia">Afibrinogenemia</a></span></li><li><span class="TLline"><a href="/medgen/2212" ref="tree=MeSH" title="MedGen record for Bernard Soulier syndrome">Bernard Soulier syndrome</a></span></li><li><span class="TLline"><a href="/medgen/4633" ref="tree=MeSH" title="MedGen record for Congenital factor V deficiency">Congenital factor V deficiency</a></span></li><li><span class="TLline"><a href="/medgen/8769" ref="tree=MeSH" title="MedGen record for Factor VII deficiency">Factor VII deficiency</a></span></li><li><span class="TLline"><a href="/medgen/4635" ref="tree=MeSH" title="MedGen record for Factor X deficiency">Factor X deficiency</a></span></li><li><span class="TLline"><a href="/medgen/8772" ref="tree=MeSH" title="MedGen record for Factor XII deficiency disease">Factor XII deficiency disease</a></span></li><li><span class="TLline"><a href="/medgen/52736" ref="tree=MeSH" title="MedGen record for Glanzmann thrombasthenia">Glanzmann thrombasthenia</a></span></li><li><span class="TLline"><a href="/medgen/82900" ref="tree=MeSH" title="MedGen record for Gray platelet syndrome">Gray platelet syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75781" ref="tree=MeSH" title="MedGen record for Hereditary antithrombin deficiency">Hereditary antithrombin deficiency</a></span></li><li><span class="TLline"><a href="/medgen/945" ref="tree=MeSH" title="MedGen record for Hereditary factor IX deficiency disease">Hereditary factor IX deficiency disease</a></span></li><li><span class="TLline"><a href="/medgen/5501" ref="tree=MeSH" title="MedGen record for Hereditary factor VIII deficiency disease">Hereditary factor VIII deficiency disease</a></span></li><li><span class="TLline"><a href="/medgen/8770" ref="tree=MeSH" title="MedGen record for Hereditary factor XI deficiency disease">Hereditary factor XI deficiency disease</a></span></li><li><span class="TLline"><a href="/medgen/4639" ref="tree=MeSH" title="MedGen record for Hereditary factor XIII deficiency disease">Hereditary factor XIII deficiency disease</a></span></li><li><span class="TLline"><a href="/medgen/36313" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome">Hermansky-Pudlak syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1651913" ref="tree=MeSH" title="MedGen record for Prothrombin deficiency">Prothrombin deficiency</a></span></li><li><span class="TLline"><a href="/medgen/96016" ref="tree=MeSH" title="MedGen record for Reduced protein C activity">Reduced protein C activity</a></span></li><li><span class="TLline"><a href="/medgen/109068" ref="tree=MeSH" title="MedGen record for Resistance to activated protein C">Resistance to activated protein C</a></span></li><li><span class="TLline"><a href="/medgen/224783" ref="tree=MeSH" title="MedGen record for Upshaw-Schulman syndrome">Upshaw-Schulman syndrome</a></span></li><li><span class="TLline"><a href="/medgen/22686" ref="tree=MeSH" title="MedGen record for von Willebrand disorder">von Willebrand disorder</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1716073" ref="tree=MeSH" title="MedGen record for Laminopathy">Laminopathy</a></span><ul><li><span class="TLline"><a href="/medgen/1708803" ref="tree=MeSH" title="MedGen record for Autosomal Emery-Dreifuss Muscular Dystrophy">Autosomal Emery-Dreifuss Muscular Dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/124408" ref="tree=MeSH" title="MedGen record for Familial partial lipodystrophy">Familial partial lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/2880" ref="tree=MeSH" title="MedGen record for Primary dilated cardiomyopathy">Primary dilated cardiomyopathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/116044" ref="tree=MeSH" title="MedGen record for Lennox-Gastaut syndrome">Lennox-Gastaut syndrome</a></span></li><li><span class="TLline"><a href="/medgen/481660" ref="tree=MeSH" title="MedGen record for Monocytopenia with susceptibility to infections">Monocytopenia with susceptibility to infections</a></span></li><li><span class="TLline"><a href="/medgen/44527" ref="tree=MeSH" title="MedGen record for Muscular dystrophy">Muscular dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/339580" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2I">Autosomal recessive limb-girdle muscular dystrophy type 2I</a></span></li><li><span class="TLline"><a href="/medgen/332193" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2K">Autosomal recessive limb-girdle muscular dystrophy type 2K</a></span></li><li><span class="TLline"><a href="/medgen/182959" ref="tree=MeSH" title="MedGen record for Becker muscular dystrophy">Becker muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/413043" ref="tree=MeSH" title="MedGen record for Congenital muscular dystrophy due to LMNA mutation">Congenital muscular dystrophy due to LMNA mutation</a></span></li><li><span class="TLline"><a href="/medgen/155541" ref="tree=MeSH" title="MedGen record for Distal myopathy">Distal myopathy</a></span></li><li><span class="TLline"><a href="/medgen/3925" ref="tree=MeSH" title="MedGen record for Duchenne muscular dystrophy">Duchenne muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/98047" ref="tree=MeSH" title="MedGen record for Eichsfeld type congenital muscular dystrophy">Eichsfeld type congenital muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/96078" ref="tree=MeSH" title="MedGen record for Emery-Dreifuss muscular dystrophy">Emery-Dreifuss muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/65956" ref="tree=MeSH" title="MedGen record for Facioscapulohumeral muscular dystrophy">Facioscapulohumeral muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/5342" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type VII">Glycogen storage disease, type VII</a></span></li><li><span class="TLline"><a href="/medgen/151940" ref="tree=MeSH" title="MedGen record for Limb-girdle muscular dystrophy">Limb-girdle muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/224728" ref="tree=MeSH" title="MedGen record for Merosin deficient congenital muscular dystrophy">Merosin deficient congenital muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1640757" ref="tree=MeSH" title="MedGen record for Miyoshi muscular dystrophy 1">Miyoshi muscular dystrophy 1</a></span></li><li><span class="TLline"><a href="/medgen/1715069" ref="tree=MeSH" title="MedGen record for Muscular Dystrophy Secondary to Mitochondrial Disorder">Muscular Dystrophy Secondary to Mitochondrial Disorder</a></span></li><li><span class="TLline"><a href="/medgen/1711158" ref="tree=MeSH" title="MedGen record for Muscular Dystrophy Secondary to Oxidative Phosphorylation Disorder">Muscular Dystrophy Secondary to Oxidative Phosphorylation Disorder</a></span></li><li><span class="TLline"><a href="/medgen/140820" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4</a></span></li><li><span class="TLline"><a href="/medgen/924974" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1</a></span></li><li><span class="TLline"><a href="/medgen/461761" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2</a></span></li><li><span class="TLline"><a href="/medgen/462869" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3</a></span></li><li><span class="TLline"><a href="/medgen/461764" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6</a></span></li><li><span class="TLline"><a href="/medgen/461766" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2">Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2</a></span></li><li><span class="TLline"><a href="/medgen/75730" ref="tree=MeSH" title="MedGen record for Oculopharyngeal muscular dystrophy">Oculopharyngeal muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/98373" ref="tree=MeSH" title="MedGen record for Scapulohumeral muscular dystrophy">Scapulohumeral muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/98046" ref="tree=MeSH" title="MedGen record for Ullrich congenital muscular dystrophy 1A">Ullrich congenital muscular dystrophy 1A</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10495" ref="tree=MeSH" title="MedGen record for Osteochondrodysplasia">Osteochondrodysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/1289" ref="tree=MeSH" title="MedGen record for Achondroplasia">Achondroplasia</a></span></li><li><span class="TLline"><a href="/medgen/395189" ref="tree=MeSH" title="MedGen record for Chondrodysplasia Blomstrand type">Chondrodysplasia Blomstrand type</a></span></li><li><span class="TLline"><a href="/medgen/3052" ref="tree=MeSH" title="MedGen record for Chondrodysplasia punctata">Chondrodysplasia punctata</a></span></li><li><span class="TLline"><a href="/medgen/3486" ref="tree=MeSH" title="MedGen record for Cleidocranial dysostosis">Cleidocranial dysostosis</a></span></li><li><span class="TLline"><a href="/medgen/98479" ref="tree=MeSH" title="MedGen record for Desbuquois syndrome">Desbuquois syndrome</a></span></li><li><span class="TLline"><a href="/medgen/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/57704" ref="tree=MeSH" title="MedGen record for Epiphysiolysis of the hip">Epiphysiolysis of the hip</a></span></li><li><span class="TLline"><a href="/medgen/858765" ref="tree=MeSH" title="MedGen record for FGFR3 Chondrodysplasia">FGFR3 Chondrodysplasia</a></span></li><li><span class="TLline"><a href="/medgen/120444" ref="tree=MeSH" title="MedGen record for Fibrous dysplasia">Fibrous dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/9367" ref="tree=MeSH" title="MedGen record for Hyperostosis interna frontalis">Hyperostosis interna frontalis</a></span></li><li><span class="TLline"><a href="/medgen/98376" ref="tree=MeSH" title="MedGen record for Hypochondroplasia">Hypochondroplasia</a></span></li><li><span class="TLline"><a href="/medgen/10502" ref="tree=MeSH" title="MedGen record for Increased bone mineral density">Increased bone mineral density</a></span></li><li><span class="TLline"><a href="/medgen/43781" ref="tree=MeSH" title="MedGen record for Infantile cortical hyperostosis">Infantile cortical hyperostosis</a></span></li><li><span class="TLline"><a href="/medgen/412531" ref="tree=MeSH" title="MedGen record for Kashin-Beck disease">Kashin-Beck disease</a></span></li><li><span class="TLline"><a href="/medgen/6009" ref="tree=MeSH" title="MedGen record for Langer-Giedion syndrome">Langer-Giedion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/593147" ref="tree=MeSH" title="MedGen record for Mesomelic dysplasia">Mesomelic dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/10496" ref="tree=MeSH" title="MedGen record for Osteochondroma">Osteochondroma</a></span></li><li><span class="TLline"><a href="/medgen/45246" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta">Osteogenesis imperfecta</a></span></li><li><span class="TLline"><a href="/medgen/116061" ref="tree=MeSH" title="MedGen record for Pyknodysostosis">Pyknodysostosis</a></span></li><li><span class="TLline"><a href="/medgen/120490" ref="tree=MeSH" title="MedGen record for SAPHO syndrome">SAPHO syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/18210" ref="tree=MeSH" title="MedGen record for Pachydermoperiostosis syndrome">Pachydermoperiostosis syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1641972" ref="tree=MeSH" title="MedGen record for Hypertrophic osteoarthropathy, primary, autosomal recessive, 1">Hypertrophic osteoarthropathy, primary, autosomal recessive, 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10617" ref="tree=MeSH" title="MedGen record for Pelger-Huët anomaly">Pelger-Huët anomaly</a></span></li><li><span class="TLline"><a href="/medgen/183649" ref="tree=MeSH" title="MedGen record for Primary familial hypertrophic cardiomyopathy">Primary familial hypertrophic cardiomyopathy</a></span><ul><li><span class="TLline"><a href="/medgen/1648325" ref="tree=MeSH" title="MedGen record for Cardiomyopathy, familial hypertrophic 27">Cardiomyopathy, familial hypertrophic 27</a></span></li><li><span class="TLline"><a href="/medgen/864707" ref="tree=MeSH" title="MedGen record for Cardiomyopathy, hypertrophic, midventricular, digenic">Cardiomyopathy, hypertrophic, midventricular, digenic</a></span></li><li><span class="TLline"><a href="/medgen/501195" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 1">Hypertrophic cardiomyopathy 1</a></span></li><li><span class="TLline"><a href="/medgen/349383" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 2">Hypertrophic cardiomyopathy 2</a></span></li><li><span class="TLline"><a href="/medgen/349382" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 3">Hypertrophic cardiomyopathy 3</a></span></li><li><span class="TLline"><a href="/medgen/350526" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 4">Hypertrophic cardiomyopathy 4</a></span></li><li><span class="TLline"><a href="/medgen/331466" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 6">Hypertrophic cardiomyopathy 6</a></span></li><li><span class="TLline"><a href="/medgen/348695" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 7">Hypertrophic cardiomyopathy 7</a></span></li><li><span class="TLline"><a href="/medgen/324806" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 8">Hypertrophic cardiomyopathy 8</a></span></li><li><span class="TLline"><a href="/medgen/348780" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 9">Hypertrophic cardiomyopathy 9</a></span></li><li><span class="TLline"><a href="/medgen/331754" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 10">Hypertrophic cardiomyopathy 10</a></span></li><li><span class="TLline"><a href="/medgen/436962" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 11">Hypertrophic cardiomyopathy 11</a></span></li><li><span class="TLline"><a href="/medgen/393755" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 12">Hypertrophic cardiomyopathy 12</a></span></li><li><span class="TLline"><a href="/medgen/442487" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 13">Hypertrophic cardiomyopathy 13</a></span></li><li><span class="TLline"><a href="/medgen/442484" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 14">Hypertrophic cardiomyopathy 14</a></span></li><li><span class="TLline"><a href="/medgen/413312" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 15">Hypertrophic cardiomyopathy 15</a></span></li><li><span class="TLline"><a href="/medgen/462554" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 16">Hypertrophic cardiomyopathy 16</a></span></li><li><span class="TLline"><a href="/medgen/462614" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 17">Hypertrophic cardiomyopathy 17</a></span></li><li><span class="TLline"><a href="/medgen/462615" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 18">Hypertrophic cardiomyopathy 18</a></span></li><li><span class="TLline"><a href="/medgen/450078" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 19">Hypertrophic cardiomyopathy 19</a></span></li><li><span class="TLline"><a href="/medgen/462617" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 20">Hypertrophic cardiomyopathy 20</a></span></li><li><span class="TLline"><a href="/medgen/766356" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 21">Hypertrophic cardiomyopathy 21</a></span></li><li><span class="TLline"><a href="/medgen/934716" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 26">Hypertrophic cardiomyopathy 26</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3931" ref="tree=MeSH" title="MedGen record for Severe short stature">Severe short stature</a></span><ul><li><span class="TLline"><a href="/medgen/41344" ref="tree=MeSH" title="MedGen record for Congenital hypothyroidism">Congenital hypothyroidism</a></span></li><li><span class="TLline"><a href="/medgen/78776" ref="tree=MeSH" title="MedGen record for Laron-type isolated somatotropin defect">Laron-type isolated somatotropin defect</a></span></li><li><span class="TLline"><a href="/medgen/99347" ref="tree=MeSH" title="MedGen record for Mulibrey nanism syndrome">Mulibrey nanism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/8506" ref="tree=MeSH" title="MedGen record for Pituitary dwarfism">Pituitary dwarfism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/222910" ref="tree=MeSH" title="MedGen record for X-linked disease">X-linked disease</a></span><ul><li><span class="TLline"><a href="/medgen/21102" ref="tree=MeSH" title="MedGen record for Androgen resistance syndrome">Androgen resistance syndrome</a></span></li><li><span class="TLline"><a href="/medgen/5377" ref="tree=MeSH" title="MedGen record for Chronic granulomatous disease">Chronic granulomatous disease</a></span></li><li><span class="TLline"><a href="/medgen/209235" ref="tree=MeSH" title="MedGen record for Danon disease">Danon disease</a></span></li><li><span class="TLline"><a href="/medgen/168056" ref="tree=MeSH" title="MedGen record for Dent disease">Dent disease</a></span></li><li><span class="TLline"><a href="/medgen/8083" ref="tree=MeSH" title="MedGen record for Fabry disease">Fabry disease</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/42261" ref="tree=MeSH" title="MedGen record for Glycogen storage disease type VIII">Glycogen storage disease type VIII</a></span></li><li><span class="TLline"><a href="/medgen/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/75692" ref="tree=MeSH" title="MedGen record for Ornithine carbamoyltransferase deficiency">Ornithine carbamoyltransferase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/61440" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease">Pelizaeus-Merzbacher disease</a></span></li><li><span class="TLline"><a href="/medgen/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/220906" ref="tree=MeSH" title="MedGen record for X-linked severe combined immunodeficiency">X-linked severe combined immunodeficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/289655" ref="tree=MeSH" title="MedGen record for Y-linked disease">Y-linked disease</a></span></li><li><span class="TLline"><a href="/medgen/113164" ref="tree=MeSH" title="MedGen record for Yellow nail syndrome">Yellow nail syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/9460" ref="tree=MeSH" title="MedGen record for Neonatal disorder">Neonatal disorder</a></span><ul><li><span class="TLline"><a href="/medgen/68563" ref="tree=MeSH" title="MedGen record for Abdominal colic">Abdominal colic</a></span><ul><li><span class="TLline"><a href="/medgen/120591" ref="tree=MeSH" title="MedGen record for Infantile colic">Infantile colic</a></span></li><li><span class="TLline"><a href="/medgen/57511" ref="tree=MeSH" title="MedGen record for Renal colic">Renal colic</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82856" ref="tree=MeSH" title="MedGen record for Benign Neonatal Epilepsy">Benign Neonatal Epilepsy</a></span></li><li><span class="TLline"><a href="/medgen/195995" ref="tree=MeSH" title="MedGen record for Congenital nystagmus">Congenital nystagmus</a></span><ul><li><span class="TLline"><a href="/medgen/1632792" ref="tree=MeSH" title="MedGen record for Congenital horizontal nystagmus">Congenital horizontal nystagmus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/52622" ref="tree=MeSH" title="MedGen record for Congenital syphilis">Congenital syphilis</a></span></li><li><span class="TLline"><a href="/medgen/52799" ref="tree=MeSH" title="MedGen record for Congenital toxoplasmosis">Congenital toxoplasmosis</a></span></li><li><span class="TLline"><a href="/medgen/87473" ref="tree=MeSH" title="MedGen record for Congenital varicella syndrome">Congenital varicella syndrome</a></span></li><li><span class="TLline"><a href="/medgen/823266" ref="tree=MeSH" title="MedGen record for Diabetic embryopathy">Diabetic embryopathy</a></span></li><li><span class="TLline"><a href="/medgen/543636" ref="tree=MeSH" title="MedGen record for Diencephalic syndrome of infancy">Diencephalic syndrome of infancy</a></span></li><li><span class="TLline"><a href="/medgen/224929" ref="tree=MeSH" title="MedGen record for Exumbilication">Exumbilication</a></span></li><li><span class="TLline"><a href="/medgen/854723" ref="tree=MeSH" title="MedGen record for Familial hyperinsulinism">Familial hyperinsulinism</a></span><ul><li><span class="TLline"><a href="/medgen/907576" ref="tree=MeSH" title="MedGen record for Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia">Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia</a></span></li><li><span class="TLline"><a href="/medgen/1830116" ref="tree=MeSH" title="MedGen record for Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome">Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/351246" ref="tree=MeSH" title="MedGen record for Exercise-induced hyperinsulinism">Exercise-induced hyperinsulinism</a></span></li><li><span class="TLline"><a href="/medgen/419505" ref="tree=MeSH" title="MedGen record for Hyperinsulinemic hypoglycemia, familial, 1">Hyperinsulinemic hypoglycemia, familial, 1</a></span></li><li><span class="TLline"><a href="/medgen/419173" ref="tree=MeSH" title="MedGen record for Hyperinsulinemic hypoglycemia, familial, 2">Hyperinsulinemic hypoglycemia, familial, 2</a></span></li><li><span class="TLline"><a href="/medgen/400646" ref="tree=MeSH" title="MedGen record for Hyperinsulinemic hypoglycemia, familial, 4">Hyperinsulinemic hypoglycemia, familial, 4</a></span></li><li><span class="TLline"><a href="/medgen/355435" ref="tree=MeSH" title="MedGen record for Hyperinsulinism due to glucokinase deficiency">Hyperinsulinism due to glucokinase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/355335" ref="tree=MeSH" title="MedGen record for Hyperinsulinism due to INSR deficiency">Hyperinsulinism due to INSR deficiency</a></span></li><li><span class="TLline"><a href="/medgen/376153" ref="tree=MeSH" title="MedGen record for Hyperinsulinism-hyperammonemia syndrome">Hyperinsulinism-hyperammonemia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/45047" ref="tree=MeSH" title="MedGen record for Nesidioblastosis">Nesidioblastosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78751" ref="tree=MeSH" title="MedGen record for Floppy infant syndrome">Floppy infant syndrome</a></span></li><li><span class="TLline"><a href="/medgen/45030" ref="tree=MeSH" title="MedGen record for Giant cell hepatitis">Giant cell hepatitis</a></span></li><li><span class="TLline"><a href="/medgen/90938" ref="tree=MeSH" title="MedGen record for Gonococcal conjunctivitis neonatorum">Gonococcal conjunctivitis neonatorum</a></span></li><li><span class="TLline"><a href="/medgen/542648" ref="tree=MeSH" title="MedGen record for Gray syndrome from chloramphenicol administration in newborn">Gray syndrome from chloramphenicol administration in newborn</a></span></li><li><span class="TLline"><a href="/medgen/42406" ref="tree=MeSH" title="MedGen record for Hemorrhagic disease of newborn">Hemorrhagic disease of newborn</a></span></li><li><span class="TLline"><a href="/medgen/43873" ref="tree=MeSH" title="MedGen record for Infant, Premature, Diseases">Infant, Premature, Diseases</a></span><ul><li><span class="TLline"><a href="/medgen/2738" ref="tree=MeSH" title="MedGen record for Bronchopulmonary dysplasia of newborn">Bronchopulmonary dysplasia of newborn</a></span></li><li><span class="TLline"><a href="/medgen/20539" ref="tree=MeSH" title="MedGen record for Congenital alveolar dysplasia">Congenital alveolar dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/6072" ref="tree=MeSH" title="MedGen record for Periventricular leukomalacia">Periventricular leukomalacia</a></span></li><li><span class="TLline"><a href="/medgen/48438" ref="tree=MeSH" title="MedGen record for Retinopathy of prematurity">Retinopathy of prematurity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/473169" ref="tree=MeSH" title="MedGen record for Metabolic bone disease of prematurity">Metabolic bone disease of prematurity</a></span></li><li><span class="TLline"><a href="/medgen/10207" ref="tree=MeSH" title="MedGen record for neonatal abstinence syndrome">neonatal abstinence syndrome</a></span></li><li><span class="TLline"><a href="/medgen/129184" ref="tree=MeSH" title="MedGen record for Neonatal adrenoleukodystrophy">Neonatal adrenoleukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/840004" ref="tree=MeSH" title="MedGen record for Neonatal alloimmune thrombocytopenia">Neonatal alloimmune thrombocytopenia</a></span></li><li><span class="TLline"><a href="/medgen/1530" ref="tree=MeSH" title="MedGen record for Neonatal anemia">Neonatal anemia</a></span><ul><li><span class="TLline"><a href="/medgen/8829" ref="tree=MeSH" title="MedGen record for Fetal-maternal hemorrhage">Fetal-maternal hemorrhage</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2469" ref="tree=MeSH" title="MedGen record for Neonatal asphyxia">Neonatal asphyxia</a></span></li><li><span class="TLline"><a href="/medgen/852422" ref="tree=MeSH" title="MedGen record for Neonatal Chemical Conjunctivitis">Neonatal Chemical Conjunctivitis</a></span></li><li><span class="TLline"><a href="/medgen/542581" ref="tree=MeSH" title="MedGen record for Neonatal dacryocystitis">Neonatal dacryocystitis</a></span></li><li><span class="TLline"><a href="/medgen/57645" ref="tree=MeSH" title="MedGen record for Neonatal diabetes mellitus">Neonatal diabetes mellitus</a></span><ul><li><span class="TLline"><a href="/medgen/929262" ref="tree=MeSH" title="MedGen record for DEND syndrome">DEND syndrome</a></span></li><li><span class="TLline"><a href="/medgen/371317" ref="tree=MeSH" title="MedGen record for Diabetes mellitus, transient neonatal, 1">Diabetes mellitus, transient neonatal, 1</a></span></li><li><span class="TLline"><a href="/medgen/1843317" ref="tree=MeSH" title="MedGen record for Intermediate DEND syndrome">Intermediate DEND syndrome</a></span></li><li><span class="TLline"><a href="/medgen/371484" ref="tree=MeSH" title="MedGen record for Permanent neonatal diabetes mellitus">Permanent neonatal diabetes mellitus</a></span></li><li><span class="TLline"><a href="/medgen/332288" ref="tree=MeSH" title="MedGen record for Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome">Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/449530" ref="tree=MeSH" title="MedGen record for Transitory neonatal diabetes mellitus">Transitory neonatal diabetes mellitus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/208991" ref="tree=MeSH" title="MedGen record for Neonatal hyperbilirubinemia">Neonatal hyperbilirubinemia</a></span><ul><li><span class="TLline"><a href="/medgen/5923" ref="tree=MeSH" title="MedGen record for Neonatal jaundice">Neonatal jaundice</a></span></li><li><span class="TLline"><a href="/medgen/633012" ref="tree=MeSH" title="MedGen record for Physiological hyperbilirubinemia">Physiological hyperbilirubinemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/473363" ref="tree=MeSH" title="MedGen record for Neonatal infectious disorder">Neonatal infectious disorder</a></span><ul><li><span class="TLline"><a href="/medgen/575892" ref="tree=MeSH" title="MedGen record for Congenital candidiasis">Congenital candidiasis</a></span></li><li><span class="TLline"><a href="/medgen/546754" ref="tree=MeSH" title="MedGen record for Congenital listeriosis">Congenital listeriosis</a></span></li><li><span class="TLline"><a href="/medgen/859096" ref="tree=MeSH" title="MedGen record for Congenital Varicella Zoster Infection">Congenital Varicella Zoster Infection</a></span></li><li><span class="TLline"><a href="/medgen/547484" ref="tree=MeSH" title="MedGen record for Neonatal candidiasis">Neonatal candidiasis</a></span></li><li><span class="TLline"><a href="/medgen/575790" ref="tree=MeSH" title="MedGen record for Neonatal chlamydial conjunctivitis">Neonatal chlamydial conjunctivitis</a></span></li><li><span class="TLline"><a href="/medgen/856601" ref="tree=MeSH" title="MedGen record for Neonatal Herpes Simplex Infection">Neonatal Herpes Simplex Infection</a></span></li><li><span class="TLline"><a href="/medgen/854365" ref="tree=MeSH" title="MedGen record for Neonatal Listeriosis">Neonatal Listeriosis</a></span></li><li><span class="TLline"><a href="/medgen/96816" ref="tree=MeSH" title="MedGen record for Neonatal sepsis">Neonatal sepsis</a></span></li><li><span class="TLline"><a href="/medgen/575516" ref="tree=MeSH" title="MedGen record for Tetanus neonatorum">Tetanus neonatorum</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/116003" ref="tree=MeSH" title="MedGen record for Neonatal leukemia">Neonatal leukemia</a></span></li><li><span class="TLline"><a href="/medgen/98372" ref="tree=MeSH" title="MedGen record for Neonatal lupus erythematosus">Neonatal lupus erythematosus</a></span></li><li><span class="TLline"><a href="/medgen/510678" ref="tree=MeSH" title="MedGen record for Neonatal omphalitis">Neonatal omphalitis</a></span></li><li><span class="TLline"><a href="/medgen/476272" ref="tree=MeSH" title="MedGen record for Neonatal Opiate Withdrawal Syndrome">Neonatal Opiate Withdrawal Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/473382" ref="tree=MeSH" title="MedGen record for Neonatal respiratory system disorder">Neonatal respiratory system disorder</a></span><ul><li><span class="TLline"><a href="/medgen/578768" ref="tree=MeSH" title="MedGen record for Neonatal aspiration of amniotic fluid">Neonatal aspiration of amniotic fluid</a></span></li><li><span class="TLline"><a href="/medgen/578767" ref="tree=MeSH" title="MedGen record for Neonatal aspiration syndrome">Neonatal aspiration syndrome</a></span></li><li><span class="TLline"><a href="/medgen/452136" ref="tree=MeSH" title="MedGen record for Transitory tachypnea of newborn">Transitory tachypnea of newborn</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/857740" ref="tree=MeSH" title="MedGen record for Neonatal Spell">Neonatal Spell</a></span></li><li><span class="TLline"><a href="/medgen/510684" ref="tree=MeSH" title="MedGen record for Neonatal thyrotoxicosis">Neonatal thyrotoxicosis</a></span></li><li><span class="TLline"><a href="/medgen/537820" ref="tree=MeSH" title="MedGen record for Neonatal toxic erythema">Neonatal toxic erythema</a></span></li><li><span class="TLline"><a href="/medgen/45824" ref="tree=MeSH" title="MedGen record for Persistent fetal circulation syndrome">Persistent fetal circulation syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/755478" ref="tree=MeSH" title="MedGen record for Alveolar capillary dysplasia with pulmonary venous misalignment">Alveolar capillary dysplasia with pulmonary venous misalignment</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/21124" ref="tree=MeSH" title="MedGen record for Thanatophoric dysplasia">Thanatophoric dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/358383" ref="tree=MeSH" title="MedGen record for Thanatophoric dysplasia type 1">Thanatophoric dysplasia type 1</a></span></li><li><span class="TLline"><a href="/medgen/376457" ref="tree=MeSH" title="MedGen record for Thanatophoric dysplasia, Glasgow variant">Thanatophoric dysplasia, Glasgow variant</a></span></li><li><span class="TLline"><a href="/medgen/226975" ref="tree=MeSH" title="MedGen record for Thanatophoric dysplasia, type 2">Thanatophoric dysplasia, type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/856942" ref="tree=MeSH" title="MedGen record for Transient Myocardial Dysfunction of Newborn">Transient Myocardial Dysfunction of Newborn</a></span></li><li><span class="TLline"><a href="/medgen/578766" ref="tree=MeSH" title="MedGen record for Transient myocardial ischemia of newborn">Transient myocardial ischemia of newborn</a></span></li><li><span class="TLline"><a href="/medgen/856941" ref="tree=MeSH" title="MedGen record for Transient Neonatal Hypoparathyroidism">Transient Neonatal Hypoparathyroidism</a></span></li><li><span class="TLline"><a href="/medgen/590677" ref="tree=MeSH" title="MedGen record for Transient neonatal pustulosis">Transient neonatal pustulosis</a></span></li><li><span class="TLline"><a href="/medgen/439355" ref="tree=MeSH" title="MedGen record for Vitamin K Deficiency Bleeding">Vitamin K Deficiency Bleeding</a></span></li><li><span class="TLline"><a href="/medgen/53088" ref="tree=MeSH" title="MedGen record for Wolman disease">Wolman disease</a></span></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
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<div class="nl"><a target="_blank" href="/pubmed/37591735">Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fernández-Castillejo S,
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Roig B,
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Melé M,
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Serrano S,
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Salvat M,
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Querol M,
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Brunet J,
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Pineda M,
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Cisneros A,
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Parada D,
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Badia J,
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Borràs J,
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Rodríguez-Balada M,
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Gumà J</span><br />
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<span class="medgenPMjournal">J Med Genet</span>
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2023 Dec 21;61(1):69-77.
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doi: 10.1136/jmg-2023-109389.
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<span class="bold">PMID: </span><a href="/pubmed/37591735" target="_blank">37591735</a><a href="/pmc/articles/PMC10803988" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36137614">Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yang CF,
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Liao TE,
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Chu YL,
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Chen LZ,
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Huang LY,
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Yang TF,
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Ho HC,
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Kao SM,
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Niu DM</span><br />
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<span class="medgenPMjournal">J Med Genet</span>
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2023 May;60(5):430-439.
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Epub 2022 Sep 22
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doi: 10.1136/jmg-2022-108675.
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<span class="bold">PMID: </span><a href="/pubmed/36137614" target="_blank">36137614</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36137615">Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Testard Q,
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Vanhoye X,
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Yauy K,
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Naud ME,
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Vieville G,
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Rousseau F,
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Dauriat B,
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Marquet V,
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Bourthoumieu S,
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Geneviève D,
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Gatinois V,
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Wells C,
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Willems M,
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Coubes C,
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Pinson L,
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Dard R,
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Tessier A,
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Hervé B,
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Vialard F,
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Harzallah I,
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Touraine R,
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Cogné B,
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Deb W,
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Besnard T,
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Pichon O,
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Laudier B,
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Mesnard L,
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Doreille A,
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Busa T,
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Missirian C,
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Satre V,
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Coutton C,
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Celse T,
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Harbuz R,
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Raymond L,
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Taly JF,
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Thevenon J</span><br />
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<span class="medgenPMjournal">J Med Genet</span>
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2022 Dec;59(12):1234-1240.
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Epub 2022 Sep 22
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doi: 10.1136/jmg-2022-108439.
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<span class="bold">PMID: </span><a href="/pubmed/36137615" target="_blank">36137615</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22congenital%2C%20hereditary%2C%20and%20neonatal%20diseases%20and%20abnormalities%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (4)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35489673">Sexual and Psychosocial Outcome After Neovaginoplasty Using Interceed in Females with Mayer-Rokitansky-Küster-Hauser Syndrome: A Case-Control Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jha S,
|
||
Singh S</span><br />
|
||
<span class="medgenPMjournal">J Obstet Gynaecol Can</span>
|
||
2022 Aug;44(8):926-930.
|
||
Epub 2022 Apr 27
|
||
doi: 10.1016/j.jogc.2022.03.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35489673" target="_blank">35489673</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32571896">Haploinsufficiency of the NF1 gene is associated with protection against diabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kallionpää RA,
|
||
Peltonen S,
|
||
Leppävirta J,
|
||
Pöyhönen M,
|
||
Auranen K,
|
||
Järveläinen H,
|
||
Peltonen J</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2021 Jun;58(6):378-384.
|
||
Epub 2020 Jun 22
|
||
doi: 10.1136/jmedgenet-2020-107062.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32571896" target="_blank">32571896</a><a href="/pmc/articles/PMC8142421" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11650945">Delivering hydrocephalic fetuses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strong C</span><br />
|
||
<span class="medgenPMjournal">Bioethics</span>
|
||
1991 Jan;5(1):1-22.
|
||
doi: 10.1111/j.1467-8519.1991.tb00141.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11650945" target="_blank">11650945</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11645847">Alternative reproduction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andrews LB,
|
||
Douglass L</span><br />
|
||
<span class="medgenPMjournal">South Calif Law Rev</span>
|
||
1991 Nov;65(1):623-82.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11645847" target="_blank">11645847</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11651788">Nontreatment decisions for severely compromised newborns.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kipnis K,
|
||
Williamson GM</span><br />
|
||
<span class="medgenPMjournal">Ethics</span>
|
||
1984 Oct;95(1):90-111.
|
||
doi: 10.1086/292603.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11651788" target="_blank">11651788</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%2C%20Hereditary%2C%20and%20Neonatal%20Diseases%20and%20Abnormalities%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 (144)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39327039">Histone modifications in Duchenne muscular dystrophy: pathogenesis insights and therapeutic implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wei Y,
|
||
Jiang Y,
|
||
Lu Y,
|
||
Hu Q</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2024 Oct 23;61(11):1003-1010.
|
||
doi: 10.1136/jmg-2024-110045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39327039" target="_blank">39327039</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35882526">Axenfeld-Rieger syndrome: more than meets the eye.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reis LM,
|
||
Maheshwari M,
|
||
Capasso J,
|
||
Atilla H,
|
||
Dudakova L,
|
||
Thompson S,
|
||
Zitano L,
|
||
Lay-Son G,
|
||
Lowry RB,
|
||
Black J,
|
||
Lee J,
|
||
Shue A,
|
||
Kremlikova Pourova R,
|
||
Vaneckova M,
|
||
Skalicka P,
|
||
Jedlickova J,
|
||
Trkova M,
|
||
Williams B,
|
||
Richard G,
|
||
Bachman K,
|
||
Seeley AH,
|
||
Costakos D,
|
||
Glaser TM,
|
||
Levin AV,
|
||
Liskova P,
|
||
Murray JC,
|
||
Semina EV</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2023 Apr;60(4):368-379.
|
||
Epub 2022 Jul 26
|
||
doi: 10.1136/jmg-2022-108646.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35882526" target="_blank">35882526</a><a href="/pmc/articles/PMC9912354" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32571896">Haploinsufficiency of the NF1 gene is associated with protection against diabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kallionpää RA,
|
||
Peltonen S,
|
||
Leppävirta J,
|
||
Pöyhönen M,
|
||
Auranen K,
|
||
Järveläinen H,
|
||
Peltonen J</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2021 Jun;58(6):378-384.
|
||
Epub 2020 Jun 22
|
||
doi: 10.1136/jmedgenet-2020-107062.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32571896" target="_blank">32571896</a><a href="/pmc/articles/PMC8142421" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25512363">Characteristic neuroradiologic features in hemorrhagic shock and encephalopathy syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kuki I,
|
||
Shiomi M,
|
||
Okazaki S,
|
||
Kawawaki H,
|
||
Tomiwa K,
|
||
Amo K,
|
||
Togawa M,
|
||
Ishikawa J,
|
||
Rinka H</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2015 Mar;30(4):468-75.
|
||
Epub 2014 Dec 14
|
||
doi: 10.1177/0883073814558119.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25512363" target="_blank">25512363</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11644164">Medical ethics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Veatch RM</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
1984 Oct 26;252(16):2296-300.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11644164" target="_blank">11644164</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%2C%20Hereditary%2C%20and%20Neonatal%20Diseases%20and%20Abnormalities%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 (54)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39164080">Maternal cigarette smoking before or during pregnancy increases the risk of severe neonatal morbidity after delivery: a nationwide population-based retrospective cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang L,
|
||
Yang L,
|
||
Wang H,
|
||
Guo Y,
|
||
Zhao M,
|
||
Bovet P,
|
||
Xi B</span><br />
|
||
<span class="medgenPMjournal">J Epidemiol Community Health</span>
|
||
2024 Oct 9;78(11):690-699.
|
||
doi: 10.1136/jech-2024-222259.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39164080" target="_blank">39164080</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32522919">Successful Outcome in an Adult Patient with Influenza-associated Hemorrhagic Shock and Encephalopathy Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Komori Y,
|
||
Uchida N,
|
||
Soejima N,
|
||
Fujita Y,
|
||
Matsumoto H</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
2020 Sep 15;59(18):2321-2326.
|
||
Epub 2020 Jun 9
|
||
doi: 10.2169/internalmedicine.4312-19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32522919" target="_blank">32522919</a><a href="/pmc/articles/PMC7578601" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11655122">Attitudes towards abortion in the Danish population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Norup M</span><br />
|
||
<span class="medgenPMjournal">Bioethics</span>
|
||
1997 Oct;11(5):439-49.
|
||
doi: 10.1111/1467-8519.00083.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11655122" target="_blank">11655122</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11644992">Was the UK collaborative ECMO trial ethical?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lantos JD</span><br />
|
||
<span class="medgenPMjournal">Paediatr Perinat Epidemiol</span>
|
||
1997 Jul;11(3):264-8.
|
||
doi: 10.1111/j.1365-3016.1997.tb00003.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11644992" target="_blank">11644992</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%2C%20Hereditary%2C%20and%20Neonatal%20Diseases%20and%20Abnormalities%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39643435">KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Borja NA,
|
||
Zafeer MF,
|
||
Bivona S,
|
||
Peart L,
|
||
Gultekin SH;
|
||
Undiagnosed Diseases Network,
|
||
Bademci G,
|
||
Tekin M;
|
||
Undiagnosed Diseases Network NIH</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2025 Jan 27;62(2):117-122.
|
||
doi: 10.1136/jmg-2024-109908.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39643435" target="_blank">39643435</a><a href="/pmc/articles/PMC11773626" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11644574">Peace and pain.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palmer K</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
1994 Jul 23;309(6949):279.
|
||
doi: 10.1136/bmj.309.6949.279.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11644574" target="_blank">11644574</a><a href="/pmc/articles/PMC2540748" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11650945">Delivering hydrocephalic fetuses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strong C</span><br />
|
||
<span class="medgenPMjournal">Bioethics</span>
|
||
1991 Jan;5(1):1-22.
|
||
doi: 10.1111/j.1467-8519.1991.tb00141.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11650945" target="_blank">11650945</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11644503">Practical ethics in pediatrics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coulter DJ,
|
||
Murray TH,
|
||
Cerreto MC</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Pediatr</span>
|
||
1988 Mar;18(3):143-95.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11644503" target="_blank">11644503</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11651788">Nontreatment decisions for severely compromised newborns.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kipnis K,
|
||
Williamson GM</span><br />
|
||
<span class="medgenPMjournal">Ethics</span>
|
||
1984 Oct;95(1):90-111.
|
||
doi: 10.1086/292603.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11651788" target="_blank">11651788</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%2C%20Hereditary%2C%20and%20Neonatal%20Diseases%20and%20Abnormalities%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 (107)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39643435">KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Borja NA,
|
||
Zafeer MF,
|
||
Bivona S,
|
||
Peart L,
|
||
Gultekin SH;
|
||
Undiagnosed Diseases Network,
|
||
Bademci G,
|
||
Tekin M;
|
||
Undiagnosed Diseases Network NIH</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2025 Jan 27;62(2):117-122.
|
||
doi: 10.1136/jmg-2024-109908.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39643435" target="_blank">39643435</a><a href="/pmc/articles/PMC11773626" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38816193">ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang J,
|
||
Zhang YN,
|
||
Wang RX,
|
||
Hao CZ,
|
||
Qiu Y,
|
||
Chi H,
|
||
Luan WS,
|
||
Tang H,
|
||
Zhang XJ,
|
||
Sun X,
|
||
Sheps JA,
|
||
Ling V,
|
||
Cao M,
|
||
Wang JS</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2024 Jul 19;61(8):750-758.
|
||
doi: 10.1136/jmg-2023-109779.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38816193" target="_blank">38816193</a><a href="/pmc/articles/PMC11287636" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37879892">Further characterisation of ARX-related disorders in females due to inherited or de novo variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gras M,
|
||
Heide S,
|
||
Keren B,
|
||
Valence S,
|
||
Garel C,
|
||
Whalen S,
|
||
Jansen AC,
|
||
Keymolen K,
|
||
Stouffs K,
|
||
Jennesson M,
|
||
Poirsier C,
|
||
Lesca G,
|
||
Depienne C,
|
||
Nava C,
|
||
Rastetter A,
|
||
Curie A,
|
||
Cuisset L,
|
||
Des Portes V,
|
||
Milh M,
|
||
Charles P,
|
||
Mignot C,
|
||
Héron D</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2024 Jan 19;61(2):103-108.
|
||
doi: 10.1136/jmg-2023-109203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37879892" target="_blank">37879892</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36446583">Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meng F,
|
||
Li X,
|
||
Zhang J,
|
||
Gao Z,
|
||
Yang X,
|
||
Liu Z,
|
||
Liu Y,
|
||
Guo T,
|
||
Wang L,
|
||
Yang L,
|
||
Wang Z</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2023 Jul;60(7):655-661.
|
||
Epub 2022 Nov 29
|
||
doi: 10.1136/jmg-2022-108506.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36446583" target="_blank">36446583</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35489673">Sexual and Psychosocial Outcome After Neovaginoplasty Using Interceed in Females with Mayer-Rokitansky-Küster-Hauser Syndrome: A Case-Control Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jha S,
|
||
Singh S</span><br />
|
||
<span class="medgenPMjournal">J Obstet Gynaecol Can</span>
|
||
2022 Aug;44(8):926-930.
|
||
Epub 2022 Apr 27
|
||
doi: 10.1016/j.jogc.2022.03.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35489673" target="_blank">35489673</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%2C%20Hereditary%2C%20and%20Neonatal%20Diseases%20and%20Abnormalities%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 (11)</a></div></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22congenital%2C%20hereditary%2C%20and%20neonatal%20diseases%20and%20abnormalities%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Congenital%2C%20Hereditary%2C%20and%20Neonatal%20Diseases%20and%20Abnormalities%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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