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<!--
|
||
UID=5527
|
||
ConceptID=C0019247
|
||
-->
|
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hereditary disease</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5527</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.">C0019247</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Hereditary Disorder; mendelian disease</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Genetic disease (782964007); Hereditary disease (32895009); Inherited disease (32895009)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0003847" target="_blank">MONDO:0003847</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0019247[DISCUI]&test_type=Clinical" ref="ncbi_uid=5527">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=5527" ref="ncbi_uid=5527">V</a></span></span><span class="TLline">Hereditary disease</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="matched_ds">Hereditary disease</span><ul><li><span class="TLline"><a href="/medgen/230896" ref="tree=MeSH" title="MedGen record for Ataxia-pancytopenia syndrome">Ataxia-pancytopenia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/859583" ref="tree=MeSH" title="MedGen record for Autosomal Dominant Disorder">Autosomal Dominant Disorder</a></span></li><li><span class="TLline"><a href="/medgen/884527" ref="tree=MeSH" title="MedGen record for Autosomal dominant hypocalcemia">Autosomal dominant hypocalcemia</a></span></li><li><span class="TLline"><a href="/medgen/859582" ref="tree=MeSH" title="MedGen record for Autosomal Recessive Disorder">Autosomal Recessive Disorder</a></span></li><li><span class="TLline"><a href="/medgen/1380840" ref="tree=MeSH" title="MedGen record for Autosomal recessive infantile hypercalcemia">Autosomal recessive infantile hypercalcemia</a></span></li><li><span class="TLline"><a href="/medgen/462153" ref="tree=MeSH" title="MedGen record for CBL-related disorder">CBL-related disorder</a></span></li><li><span class="TLline"><a href="/medgen/40363" ref="tree=MeSH" title="MedGen record for Cockayne syndrome">Cockayne syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/155488" ref="tree=MeSH" title="MedGen record for Cockayne syndrome type 1">Cockayne syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/155487" ref="tree=MeSH" title="MedGen record for Cockayne syndrome type 2">Cockayne syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/196713" ref="tree=MeSH" title="MedGen record for Cockayne syndrome type 3">Cockayne syndrome type 3</a></span></li><li><span class="TLline"><a href="/medgen/1762238" ref="tree=MeSH" title="MedGen record for COFS syndrome">COFS syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/66320" ref="tree=MeSH" title="MedGen record for Cerebrooculofacioskeletal syndrome 1">Cerebrooculofacioskeletal syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/342798" ref="tree=MeSH" title="MedGen record for Cerebrooculofacioskeletal syndrome 4">Cerebrooculofacioskeletal syndrome 4</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/751396" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency">Combined immunodeficiency</a></span><ul><li><span class="TLline"><a href="/medgen/439" ref="tree=MeSH" title="MedGen record for Ataxia-telangiectasia syndrome">Ataxia-telangiectasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/124417" ref="tree=MeSH" title="MedGen record for Reticular dysgenesis">Reticular dysgenesis</a></span></li><li><span class="TLline"><a href="/medgen/88328" ref="tree=MeSH" title="MedGen record for Severe combined immunodeficiency disease">Severe combined immunodeficiency disease</a></span><ul><li><span class="TLline"><a href="/medgen/120610" ref="tree=MeSH" title="MedGen record for Adenosine deaminase deficiency">Adenosine deaminase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/400751" ref="tree=MeSH" title="MedGen record for Athabaskan severe combined immunodeficiency">Athabaskan severe combined immunodeficiency</a></span></li><li><span class="TLline"><a href="/medgen/398130" ref="tree=MeSH" title="MedGen record for Histiocytic medullary reticulosis">Histiocytic medullary reticulosis</a></span></li><li><span class="TLline"><a href="/medgen/1791958" ref="tree=MeSH" title="MedGen record for Leaky Severe Combined Immunodeficiency">Leaky Severe Combined Immunodeficiency</a></span></li><li><span class="TLline"><a href="/medgen/1781237" ref="tree=MeSH" title="MedGen record for MHC class II deficiency">MHC class II deficiency</a></span></li><li><span class="TLline"><a href="/medgen/75653" ref="tree=MeSH" title="MedGen record for Purine-nucleoside phosphorylase deficiency">Purine-nucleoside phosphorylase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/69211" ref="tree=MeSH" title="MedGen record for SCID (severe combined immunodeficiency) due to absent class II HLA (human leukocyte antigens)">SCID (severe combined immunodeficiency) due to absent class II HLA (human leukocyte antigens)</a></span></li><li><span class="TLline"><a href="/medgen/863270" ref="tree=MeSH" title="MedGen record for Severe combined immunodeficiency due to DNA-PKcs deficiency">Severe combined immunodeficiency due to DNA-PKcs deficiency</a></span></li><li><span class="TLline"><a href="/medgen/364745" ref="tree=MeSH" title="MedGen record for Severe Combined Immunodeficiency with Absence of T and B Cells">Severe Combined Immunodeficiency with Absence of T and B Cells</a></span></li><li><span class="TLline"><a href="/medgen/364744" ref="tree=MeSH" title="MedGen record for Severe Combined Immunodeficiency with Absence of T, Normal B Cells">Severe Combined Immunodeficiency with Absence of T, Normal B Cells</a></span></li><li><span class="TLline"><a href="/medgen/354935" ref="tree=MeSH" title="MedGen record for Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency">Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/373235" ref="tree=MeSH" title="MedGen record for Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B Cell-Positive, NK Cell-Positive">Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B Cell-Positive, NK Cell-Positive</a></span></li><li><span class="TLline"><a href="/medgen/929461" ref="tree=MeSH" title="MedGen record for Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome">Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/331474" ref="tree=MeSH" title="MedGen record for T-B+ severe combined immunodeficiency due to JAK3 deficiency">T-B+ severe combined immunodeficiency due to JAK3 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/220906" ref="tree=MeSH" title="MedGen record for X-linked severe combined immunodeficiency">X-linked severe combined immunodeficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/21921" ref="tree=MeSH" title="MedGen record for Wiskott-Aldrich syndrome">Wiskott-Aldrich syndrome</a></span></li><li><span class="TLline"><a href="/medgen/482631" ref="tree=MeSH" title="MedGen record for Wiskott-Aldrich syndrome 2">Wiskott-Aldrich syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3441" ref="tree=MeSH" title="MedGen record for Congenital chromosomal disease">Congenital chromosomal disease</a></span><ul><li><span class="TLline"><a href="/medgen/64512" ref="tree=MeSH" title="MedGen record for 11p partial monosomy syndrome">11p partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162878" ref="tree=MeSH" title="MedGen record for 11q partial monosomy syndrome">11q partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/422333" ref="tree=MeSH" title="MedGen record for 22q11 Deletion Syndrome">22q11 Deletion Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/4297" ref="tree=MeSH" title="MedGen record for DiGeorge syndrome">DiGeorge syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/408255" ref="tree=MeSH" title="MedGen record for 4p partial monosomy syndrome">4p partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/41345" ref="tree=MeSH" title="MedGen record for 5p partial monosomy syndrome">5p partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/58144" ref="tree=MeSH" title="MedGen record for Angelman syndrome">Angelman syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1842258" ref="tree=MeSH" title="MedGen record for Angelman syndrome due to a point mutation">Angelman syndrome due to a point mutation</a></span></li><li><span class="TLline"><a href="/medgen/1826135" ref="tree=MeSH" title="MedGen record for Angelman syndrome due to imprinting defect in 15q11-q13">Angelman syndrome due to imprinting defect in 15q11-q13</a></span></li><li><span class="TLline"><a href="/medgen/1797757" ref="tree=MeSH" title="MedGen record for Angelman syndrome due to maternal 15q11q13 deletion">Angelman syndrome due to maternal 15q11q13 deletion</a></span></li><li><span class="TLline"><a href="/medgen/1826078" ref="tree=MeSH" title="MedGen record for Angelman syndrome due to paternal uniparental disomy of chromosome 15">Angelman syndrome due to paternal uniparental disomy of chromosome 15</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1843454" ref="tree=MeSH" title="MedGen record for Autosomal anomaly">Autosomal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/977694" ref="tree=MeSH" title="MedGen record for Autosomal monosomy">Autosomal monosomy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/199033" ref="tree=MeSH" title="MedGen record for Autosomal chromosomal disorder">Autosomal chromosomal disorder</a></span><ul><li><span class="TLline"><a href="/medgen/162780" ref="tree=MeSH" title="MedGen record for Chromosome 13q trisomy">Chromosome 13q trisomy</a></span></li><li><span class="TLline"><a href="/medgen/167068" ref="tree=MeSH" title="MedGen record for Chromosome 3, trisomy 3p">Chromosome 3, trisomy 3p</a></span></li><li><span class="TLline"><a href="/medgen/419839" ref="tree=MeSH" title="MedGen record for Chromosome 5, trisomy 5p">Chromosome 5, trisomy 5p</a></span></li><li><span class="TLline"><a href="/medgen/56261" ref="tree=MeSH" title="MedGen record for Complete trisomy 13 syndrome">Complete trisomy 13 syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120542" ref="tree=MeSH" title="MedGen record for Complete trisomy 20 syndrome">Complete trisomy 20 syndrome</a></span></li><li><span class="TLline"><a href="/medgen/4385" ref="tree=MeSH" title="MedGen record for Down syndrome">Down syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98158" ref="tree=MeSH" title="MedGen record for Trisomy 8">Trisomy 8</a></span></li><li><span class="TLline"><a href="/medgen/1384417" ref="tree=MeSH" title="MedGen record for Trisomy 18">Trisomy 18</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2562" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome">Beckwith-Wiedemann syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1826104" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to 11p15 microdeletion">Beckwith-Wiedemann syndrome due to 11p15 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/1826126" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to 11p15 microduplication">Beckwith-Wiedemann syndrome due to 11p15 microduplication</a></span></li><li><span class="TLline"><a href="/medgen/1826105" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion">Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion</a></span></li><li><span class="TLline"><a href="/medgen/1826157" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to CDKN1C mutation">Beckwith-Wiedemann syndrome due to CDKN1C mutation</a></span></li><li><span class="TLline"><a href="/medgen/1842606" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to imprinting defect of 11p15">Beckwith-Wiedemann syndrome due to imprinting defect of 11p15</a></span></li><li><span class="TLline"><a href="/medgen/1825953" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to NSD1 mutation">Beckwith-Wiedemann syndrome due to NSD1 mutation</a></span></li><li><span class="TLline"><a href="/medgen/1843183" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11">Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78752" ref="tree=MeSH" title="MedGen record for De Lange syndrome">De Lange syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/315658" ref="tree=MeSH" title="MedGen record for Congenital muscular hypertrophy-cerebral syndrome">Congenital muscular hypertrophy-cerebral syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1645760" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 1">Cornelia de Lange syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/339902" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 3">Cornelia de Lange syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/766431" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 4">Cornelia de Lange syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/763817" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 5">Cornelia de Lange syndrome 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/38214" ref="tree=MeSH" title="MedGen record for Holoprosencephaly sequence">Holoprosencephaly sequence</a></span><ul><li><span class="TLline"><a href="/medgen/78541" ref="tree=MeSH" title="MedGen record for Agnathia-otocephaly complex">Agnathia-otocephaly complex</a></span></li><li><span class="TLline"><a href="/medgen/140909" ref="tree=MeSH" title="MedGen record for Alobar holoprosencephaly">Alobar holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/382704" ref="tree=MeSH" title="MedGen record for Chromosome 1q41-q42 deletion syndrome">Chromosome 1q41-q42 deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/452352" ref="tree=MeSH" title="MedGen record for Ethmocephaly">Ethmocephaly</a></span></li><li><span class="TLline"><a href="/medgen/335111" ref="tree=MeSH" title="MedGen record for Hartsfield-Bixler-Demyer syndrome">Hartsfield-Bixler-Demyer syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78617" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 1">Holoprosencephaly 1</a></span></li><li><span class="TLline"><a href="/medgen/322517" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 2">Holoprosencephaly 2</a></span></li><li><span class="TLline"><a href="/medgen/327125" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 3">Holoprosencephaly 3</a></span></li><li><span class="TLline"><a href="/medgen/374488" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 4">Holoprosencephaly 4</a></span></li><li><span class="TLline"><a href="/medgen/355304" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 5">Holoprosencephaly 5</a></span></li><li><span class="TLline"><a href="/medgen/342979" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 6">Holoprosencephaly 6</a></span></li><li><span class="TLline"><a href="/medgen/372134" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 7">Holoprosencephaly 7</a></span></li><li><span class="TLline"><a href="/medgen/322873" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 8">Holoprosencephaly 8</a></span></li><li><span class="TLline"><a href="/medgen/324369" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 9">Holoprosencephaly 9</a></span></li><li><span class="TLline"><a href="/medgen/441620" ref="tree=MeSH" title="MedGen record for Holoprosencephaly caudal dysgenesis">Holoprosencephaly caudal dysgenesis</a></span></li><li><span class="TLline"><a href="/medgen/441187" ref="tree=MeSH" title="MedGen record for Holoprosencephaly deletion 2p">Holoprosencephaly deletion 2p</a></span></li><li><span class="TLline"><a href="/medgen/441188" ref="tree=MeSH" title="MedGen record for Holoprosencephaly ectrodactyly cleft lip palate">Holoprosencephaly ectrodactyly cleft lip palate</a></span></li><li><span class="TLline"><a href="/medgen/441189" ref="tree=MeSH" title="MedGen record for Holoprosencephaly radial heart renal anomalies">Holoprosencephaly radial heart renal anomalies</a></span></li><li><span class="TLline"><a href="/medgen/343987" ref="tree=MeSH" title="MedGen record for Holoprosencephaly, recurrent infections, and monocytosis">Holoprosencephaly, recurrent infections, and monocytosis</a></span></li><li><span class="TLline"><a href="/medgen/330464" ref="tree=MeSH" title="MedGen record for Holoprosencephaly-craniosynostosis syndrome">Holoprosencephaly-craniosynostosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/336097" ref="tree=MeSH" title="MedGen record for Holoprosencephaly-hypokinesia-congenital contractures syndrome">Holoprosencephaly-hypokinesia-congenital contractures syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340382" ref="tree=MeSH" title="MedGen record for Holoprosencephaly-postaxial polydactyly syndrome">Holoprosencephaly-postaxial polydactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/343380" ref="tree=MeSH" title="MedGen record for Lambotte syndrome">Lambotte syndrome</a></span></li><li><span class="TLline"><a href="/medgen/96559" ref="tree=MeSH" title="MedGen record for Lobar holoprosencephaly">Lobar holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/798407" ref="tree=MeSH" title="MedGen record for Midline interhemispheric variant of holoprosencephaly">Midline interhemispheric variant of holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/468539" ref="tree=MeSH" title="MedGen record for NODAL-Related Holoprosencephaly">NODAL-Related Holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/199694" ref="tree=MeSH" title="MedGen record for Semilobar holoprosencephaly">Semilobar holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1843386" ref="tree=MeSH" title="MedGen record for Septopreoptic holoprosencephaly">Septopreoptic holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1708682" ref="tree=MeSH" title="MedGen record for Syntelencephaly">Syntelencephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82693" ref="tree=MeSH" title="MedGen record for Melnick-Fraser syndrome">Melnick-Fraser syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1641418" ref="tree=MeSH" title="MedGen record for Mosaic variegated aneuploidy syndrome">Mosaic variegated aneuploidy syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/338026" ref="tree=MeSH" title="MedGen record for Mosaic variegated aneuploidy syndrome 1">Mosaic variegated aneuploidy syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/481473" ref="tree=MeSH" title="MedGen record for Mosaic variegated aneuploidy syndrome 2">Mosaic variegated aneuploidy syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/1616382" ref="tree=MeSH" title="MedGen record for Mosaic variegated aneuploidy syndrome 3">Mosaic variegated aneuploidy syndrome 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/46057" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome">Prader-Willi syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1826086" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome due to imprinting mutation">Prader-Willi syndrome due to imprinting mutation</a></span></li><li><span class="TLline"><a href="/medgen/1826079" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15">Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15</a></span></li><li><span class="TLline"><a href="/medgen/1826129" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome due to paternal 15q11q13 deletion">Prader-Willi syndrome due to paternal 15q11q13 deletion</a></span></li><li><span class="TLline"><a href="/medgen/1826085" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome due to translocation">Prader-Willi syndrome due to translocation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/988614" ref="tree=MeSH" title="MedGen record for Ring chromosome anomaly">Ring chromosome anomaly</a></span></li><li><span class="TLline"><a href="/medgen/48517" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome">Rubinstein-Taybi syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/350477" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome due to 16p13.3 microdeletion">Rubinstein-Taybi syndrome due to 16p13.3 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/1639327" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome due to CREBBP mutations">Rubinstein-Taybi syndrome due to CREBBP mutations</a></span></li><li><span class="TLline"><a href="/medgen/462291" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency">Rubinstein-Taybi syndrome due to EP300 haploinsufficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/104492" ref="tree=MeSH" title="MedGen record for Russell-Silver syndrome">Russell-Silver syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1718472" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome 1">Silver-Russell syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1714148" ref="tree=MeSH" title="MedGen record for Silver-russell syndrome 2">Silver-russell syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/894912" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome 3">Silver-Russell syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/1712866" ref="tree=MeSH" title="MedGen record for Silver-russell syndrome 4">Silver-russell syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/1713787" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome 5">Silver-Russell syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/1826103" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to 11p15 microduplication">Silver-Russell syndrome due to 11p15 microduplication</a></span></li><li><span class="TLline"><a href="/medgen/1826059" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to 7p11.2p13 microduplication">Silver-Russell syndrome due to 7p11.2p13 microduplication</a></span></li><li><span class="TLline"><a href="/medgen/1843388" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to a point mutation">Silver-Russell syndrome due to a point mutation</a></span></li><li><span class="TLline"><a href="/medgen/1826102" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to an imprinting defect of 11p15">Silver-Russell syndrome due to an imprinting defect of 11p15</a></span></li><li><span class="TLline"><a href="/medgen/1826074" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7">Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7</a></span></li><li><span class="TLline"><a href="/medgen/1843295" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11">Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/183658" ref="tree=MeSH" title="MedGen record for Sex-linked hereditary disorder">Sex-linked hereditary disorder</a></span><ul><li><span class="TLline"><a href="/medgen/8912" ref="tree=MeSH" title="MedGen record for Fragile X syndrome">Fragile X syndrome</a></span></li><li><span class="TLline"><a href="/medgen/14518" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome">Orofaciodigital syndrome</a></span></li><li><span class="TLline"><a href="/medgen/423530" ref="tree=MeSH" title="MedGen record for Sex chromosome disorder of sex development">Sex chromosome disorder of sex development</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/162881" ref="tree=MeSH" title="MedGen record for Smith-Magenis syndrome">Smith-Magenis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/61232" ref="tree=MeSH" title="MedGen record for Sotos syndrome">Sotos syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1379406" ref="tree=MeSH" title="MedGen record for Trisomy 13 Syndromes">Trisomy 13 Syndromes</a></span></li><li><span class="TLline"><a href="/medgen/59799" ref="tree=MeSH" title="MedGen record for Williams syndrome">Williams syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/232098" ref="tree=MeSH" title="MedGen record for Congenital Disorder of Natural Immunity">Congenital Disorder of Natural Immunity</a></span><ul><li><span class="TLline"><a href="/medgen/5377" ref="tree=MeSH" title="MedGen record for Chronic granulomatous disease">Chronic granulomatous disease</a></span><ul><li><span class="TLline"><a href="/medgen/383872" ref="tree=MeSH" title="MedGen record for Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative">Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative</a></span></li><li><span class="TLline"><a href="/medgen/341102" ref="tree=MeSH" title="MedGen record for Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1">Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1</a></span></li><li><span class="TLline"><a href="/medgen/383869" ref="tree=MeSH" title="MedGen record for Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2">Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2</a></span></li><li><span class="TLline"><a href="/medgen/462759" ref="tree=MeSH" title="MedGen record for Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3">Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3</a></span></li><li><span class="TLline"><a href="/medgen/336165" ref="tree=MeSH" title="MedGen record for Granulomatous disease, chronic, X-linked">Granulomatous disease, chronic, X-linked</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3347" ref="tree=MeSH" title="MedGen record for Chédiak-Higashi syndrome">Chédiak-Higashi syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/193" ref="tree=MeSH" title="MedGen record for Aleutian disease">Aleutian disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/124419" ref="tree=MeSH" title="MedGen record for Leukocyte adhesion deficiency">Leukocyte adhesion deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/98310" ref="tree=MeSH" title="MedGen record for Leukocyte adhesion deficiency 1">Leukocyte adhesion deficiency 1</a></span></li><li><span class="TLline"><a href="/medgen/411605" ref="tree=MeSH" title="MedGen record for Leukocyte adhesion deficiency 3">Leukocyte adhesion deficiency 3</a></span></li><li><span class="TLline"><a href="/medgen/96022" ref="tree=MeSH" title="MedGen record for Leukocyte adhesion deficiency type II">Leukocyte adhesion deficiency type II</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/406938" ref="tree=MeSH" title="MedGen record for Neutrophil Actin Defect">Neutrophil Actin Defect</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/232099" ref="tree=MeSH" title="MedGen record for Congenital T-cell immunodeficiency">Congenital T-cell immunodeficiency</a></span></li><li><span class="TLline"><a href="/medgen/41393" ref="tree=MeSH" title="MedGen record for Cystic fibrosis">Cystic fibrosis</a></span><ul><li><span class="TLline"><a href="/medgen/639765" ref="tree=MeSH" title="MedGen record for Cystic fibrosis associated meconium ileus">Cystic fibrosis associated meconium ileus</a></span></li><li><span class="TLline"><a href="/medgen/888330" ref="tree=MeSH" title="MedGen record for Cystic Fibrosis Pulmonary Exacerbation">Cystic Fibrosis Pulmonary Exacerbation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1384792" ref="tree=MeSH" title="MedGen record for Cystinosis">Cystinosis</a></span><ul><li><span class="TLline"><a href="/medgen/760976" ref="tree=MeSH" title="MedGen record for Infantile nephropathic cystinosis">Infantile nephropathic cystinosis</a></span></li><li><span class="TLline"><a href="/medgen/75701" ref="tree=MeSH" title="MedGen record for Juvenile nephropathic cystinosis">Juvenile nephropathic cystinosis</a></span></li><li><span class="TLline"><a href="/medgen/419735" ref="tree=MeSH" title="MedGen record for Nephropathic cystinosis">Nephropathic cystinosis</a></span></li><li><span class="TLline"><a href="/medgen/419313" ref="tree=MeSH" title="MedGen record for Ocular cystinosis">Ocular cystinosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/168056" ref="tree=MeSH" title="MedGen record for Dent disease">Dent disease</a></span><ul><li><span class="TLline"><a href="/medgen/336322" ref="tree=MeSH" title="MedGen record for Dent disease type 1">Dent disease type 1</a></span></li><li><span class="TLline"><a href="/medgen/336867" ref="tree=MeSH" title="MedGen record for Dent disease type 2">Dent disease type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/409522" ref="tree=MeSH" title="MedGen record for Dihydropyrimidine dehydrogenase deficiency">Dihydropyrimidine dehydrogenase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/776457" ref="tree=MeSH" title="MedGen record for Fluoropyrimidine response">Fluoropyrimidine response</a></span><ul><li><span class="TLline"><a href="/medgen/450435" ref="tree=MeSH" title="MedGen record for Capecitabine response">Capecitabine response</a></span></li><li><span class="TLline"><a href="/medgen/450455" ref="tree=MeSH" title="MedGen record for Fluorouracil response">Fluorouracil response</a></span></li><li><span class="TLline"><a href="/medgen/338948" ref="tree=MeSH" title="MedGen record for Tegafur response">Tegafur response</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/82774" ref="tree=MeSH" title="MedGen record for DNA repair disease">DNA repair disease</a></span><ul><li><span class="TLline"><a href="/medgen/41967" ref="tree=MeSH" title="MedGen record for Fanconi anemia">Fanconi anemia</a></span><ul><li><span class="TLline"><a href="/medgen/483333" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group A">Fanconi anemia complementation group A</a></span></li><li><span class="TLline"><a href="/medgen/336901" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group B">Fanconi anemia complementation group B</a></span></li><li><span class="TLline"><a href="/medgen/483324" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group C">Fanconi anemia complementation group C</a></span></li><li><span class="TLline"><a href="/medgen/325420" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group D1">Fanconi anemia complementation group D1</a></span></li><li><span class="TLline"><a href="/medgen/463627" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group D2">Fanconi anemia complementation group D2</a></span></li><li><span class="TLline"><a href="/medgen/463628" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group E">Fanconi anemia complementation group E</a></span></li><li><span class="TLline"><a href="/medgen/854016" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group F">Fanconi anemia complementation group F</a></span></li><li><span class="TLline"><a href="/medgen/854017" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group G">Fanconi anemia complementation group G</a></span></li><li><span class="TLline"><a href="/medgen/323016" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group I">Fanconi anemia complementation group I</a></span></li><li><span class="TLline"><a href="/medgen/323015" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group J">Fanconi anemia complementation group J</a></span></li><li><span class="TLline"><a href="/medgen/854018" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group L">Fanconi anemia complementation group L</a></span></li><li><span class="TLline"><a href="/medgen/372133" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group N">Fanconi anemia complementation group N</a></span></li><li><span class="TLline"><a href="/medgen/462003" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group O">Fanconi anemia complementation group O</a></span></li><li><span class="TLline"><a href="/medgen/854020" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group P">Fanconi anemia complementation group P</a></span></li><li><span class="TLline"><a href="/medgen/854019" ref="tree=MeSH" title="MedGen record for Fanconi anemia, complementation group M">Fanconi anemia, complementation group M</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1633554" ref="tree=MeSH" title="MedGen record for Lynch syndrome">Lynch syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/232603" ref="tree=MeSH" title="MedGen record for Colorectal cancer, hereditary nonpolyposis, type 2">Colorectal cancer, hereditary nonpolyposis, type 2</a></span></li><li><span class="TLline"><a href="/medgen/423615" ref="tree=MeSH" title="MedGen record for Lynch syndrome 1">Lynch syndrome 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/140771" ref="tree=MeSH" title="MedGen record for Microcephaly, normal intelligence and immunodeficiency">Microcephaly, normal intelligence and immunodeficiency</a></span></li><li><span class="TLline"><a href="/medgen/442700" ref="tree=MeSH" title="MedGen record for Nijmegen breakage syndrome-like disorder">Nijmegen breakage syndrome-like disorder</a></span></li><li><span class="TLline"><a href="/medgen/462008" ref="tree=MeSH" title="MedGen record for Warsaw breakage syndrome">Warsaw breakage syndrome</a></span></li><li><span class="TLline"><a href="/medgen/12147" ref="tree=MeSH" title="MedGen record for Werner syndrome">Werner syndrome</a></span></li><li><span class="TLline"><a href="/medgen/21943" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum">Xeroderma pigmentosum</a></span><ul><li><span class="TLline"><a href="/medgen/468518" ref="tree=MeSH" title="MedGen record for ERCC1-Related Xeroderma Pigmentosum">ERCC1-Related Xeroderma Pigmentosum</a></span></li><li><span class="TLline"><a href="/medgen/82775" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum group A">Xeroderma pigmentosum group A</a></span></li><li><span class="TLline"><a href="/medgen/78643" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum group B">Xeroderma pigmentosum group B</a></span></li><li><span class="TLline"><a href="/medgen/376352" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum variant type">Xeroderma pigmentosum variant type</a></span></li><li><span class="TLline"><a href="/medgen/416702" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum, group C">Xeroderma pigmentosum, group C</a></span></li><li><span class="TLline"><a href="/medgen/75656" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum, group D">Xeroderma pigmentosum, group D</a></span></li><li><span class="TLline"><a href="/medgen/341219" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum, group E">Xeroderma pigmentosum, group E</a></span></li><li><span class="TLline"><a href="/medgen/120612" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum, group F">Xeroderma pigmentosum, group F</a></span></li><li><span class="TLline"><a href="/medgen/75657" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum, group G">Xeroderma pigmentosum, group G</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/369200" ref="tree=MeSH" title="MedGen record for Familial hypocalciuric hypercalcemia">Familial hypocalciuric hypercalcemia</a></span><ul><li><span class="TLline"><a href="/medgen/137973" ref="tree=MeSH" title="MedGen record for Familial hypocalciuric hypercalcemia 1">Familial hypocalciuric hypercalcemia 1</a></span></li><li><span class="TLline"><a href="/medgen/374447" ref="tree=MeSH" title="MedGen record for Familial hypocalciuric hypercalcemia 2">Familial hypocalciuric hypercalcemia 2</a></span></li><li><span class="TLline"><a href="/medgen/322173" ref="tree=MeSH" title="MedGen record for Familial hypocalciuric hypercalcemia 3">Familial hypocalciuric hypercalcemia 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/889117" ref="tree=MeSH" title="MedGen record for Familial Primary Hypomagnesemia">Familial Primary Hypomagnesemia</a></span></li><li><span class="TLline"><a href="/medgen/4653" ref="tree=MeSH" title="MedGen record for Fanconi syndrome">Fanconi syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/90966" ref="tree=MeSH" title="MedGen record for Acquired Fanconi syndrome">Acquired Fanconi syndrome</a></span></li><li><span class="TLline"><a href="/medgen/137960" ref="tree=MeSH" title="MedGen record for Adult Fanconi syndrome">Adult Fanconi syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341765" ref="tree=MeSH" title="MedGen record for Primary Fanconi syndrome">Primary Fanconi syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8996" ref="tree=MeSH" title="MedGen record for Genetic anomaly of leukocyte">Genetic anomaly of leukocyte</a></span></li><li><span class="TLline"><a href="/medgen/1714915" ref="tree=MeSH" title="MedGen record for Genetic Syndrome Associated with Congenital Heart Defect">Genetic Syndrome Associated with Congenital Heart Defect</a></span><ul><li><span class="TLline"><a href="/medgen/1708592" ref="tree=MeSH" title="MedGen record for Other Genetic Syndrome Associated with Congenital Heart Defect">Other Genetic Syndrome Associated with Congenital Heart Defect</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/42290" ref="tree=MeSH" title="MedGen record for Granular corneal dystrophy">Granular corneal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/14326" ref="tree=MeSH" title="MedGen record for Hereditary cancer-predisposing syndrome">Hereditary cancer-predisposing syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/436213" ref="tree=MeSH" title="MedGen record for Attenuated familial adenomatous polyposis">Attenuated familial adenomatous polyposis</a></span><ul><li><span class="TLline"><a href="/medgen/1826008" ref="tree=MeSH" title="MedGen record for APC-related attenuated familial adenomatous polyposis">APC-related attenuated familial adenomatous polyposis</a></span></li><li><span class="TLline"><a href="/medgen/1826067" ref="tree=MeSH" title="MedGen record for AXIN2-related attenuated familial adenomatous polyposis">AXIN2-related attenuated familial adenomatous polyposis</a></span></li><li><span class="TLline"><a href="/medgen/474474" ref="tree=MeSH" title="MedGen record for Familial adenomatous polyposis 2">Familial adenomatous polyposis 2</a></span></li><li><span class="TLline"><a href="/medgen/902388" ref="tree=MeSH" title="MedGen record for Familial adenomatous polyposis 3">Familial adenomatous polyposis 3</a></span></li><li><span class="TLline"><a href="/medgen/978356" ref="tree=MeSH" title="MedGen record for MSH3-related attenuated familial adenomatous polyposis">MSH3-related attenuated familial adenomatous polyposis</a></span></li><li><span class="TLline"><a href="/medgen/51342" ref="tree=MeSH" title="MedGen record for Polymerase proofreading-related adenomatous polyposis">Polymerase proofreading-related adenomatous polyposis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3937" ref="tree=MeSH" title="MedGen record for B-K mole (nevus) syndrome">B-K mole (nevus) syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1631254" ref="tree=MeSH" title="MedGen record for BAP1 Tumor Predisposition Syndrome">BAP1 Tumor Predisposition Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/482122" ref="tree=MeSH" title="MedGen record for BAP1-related tumor predisposition syndrome">BAP1-related tumor predisposition syndrome</a></span></li><li><span class="TLline"><a href="/medgen/91070" ref="tree=MeSH" title="MedGen record for Birt-Hogg-Dube syndrome">Birt-Hogg-Dube syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1051978" ref="tree=MeSH" title="MedGen record for Birt-Hogg-Dube syndrome 1">Birt-Hogg-Dube syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1841312" ref="tree=MeSH" title="MedGen record for Birt-Hogg-Dube syndrome 2">Birt-Hogg-Dube syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2685" ref="tree=MeSH" title="MedGen record for Bloom syndrome">Bloom syndrome</a></span></li><li><span class="TLline"><a href="/medgen/83401" ref="tree=MeSH" title="MedGen record for Blue rubber bleb nevus">Blue rubber bleb nevus</a></span></li><li><span class="TLline"><a href="/medgen/140810" ref="tree=MeSH" title="MedGen record for Carney complex">Carney complex</a></span><ul><li><span class="TLline"><a href="/medgen/340253" ref="tree=MeSH" title="MedGen record for Carney complex type 2">Carney complex type 2</a></span></li><li><span class="TLline"><a href="/medgen/388559" ref="tree=MeSH" title="MedGen record for Carney complex, type 1">Carney complex, type 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/376098" ref="tree=MeSH" title="MedGen record for Carney-Stratakis syndrome">Carney-Stratakis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1791437" ref="tree=MeSH" title="MedGen record for CDC73-Related Neoplastic Syndrome">CDC73-Related Neoplastic Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1643161" ref="tree=MeSH" title="MedGen record for Familial isolated hyperparathyroidism">Familial isolated hyperparathyroidism</a></span></li><li><span class="TLline"><a href="/medgen/310065" ref="tree=MeSH" title="MedGen record for Hyperparathyroidism 2 with jaw tumors">Hyperparathyroidism 2 with jaw tumors</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1779168" ref="tree=MeSH" title="MedGen record for CDH1-Associated Breast Carcinoma Syndrome">CDH1-Associated Breast Carcinoma Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/91079" ref="tree=MeSH" title="MedGen record for Cobb syndrome">Cobb syndrome</a></span></li><li><span class="TLline"><a href="/medgen/816383" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency due to OX40 deficiency">Combined immunodeficiency due to OX40 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/40407" ref="tree=MeSH" title="MedGen record for Common variable immunodeficiency">Common variable immunodeficiency</a></span><ul><li><span class="TLline"><a href="/medgen/766426" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency due to LRBA deficiency">Combined immunodeficiency due to LRBA deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1799211" ref="tree=MeSH" title="MedGen record for IL21-related infantile inflammatory bowel disease">IL21-related infantile inflammatory bowel disease</a></span></li><li><span class="TLline"><a href="/medgen/460728" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 1">Immunodeficiency, common variable, 1</a></span></li><li><span class="TLline"><a href="/medgen/461704" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 2">Immunodeficiency, common variable, 2</a></span></li><li><span class="TLline"><a href="/medgen/462088" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 3">Immunodeficiency, common variable, 3</a></span></li><li><span class="TLline"><a href="/medgen/462089" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 4">Immunodeficiency, common variable, 4</a></span></li><li><span class="TLline"><a href="/medgen/462090" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 5">Immunodeficiency, common variable, 5</a></span></li><li><span class="TLline"><a href="/medgen/462091" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 6">Immunodeficiency, common variable, 6</a></span></li><li><span class="TLline"><a href="/medgen/762276" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 7">Immunodeficiency, common variable, 7</a></span></li><li><span class="TLline"><a href="/medgen/816321" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 10">Immunodeficiency, common variable, 10</a></span></li><li><span class="TLline"><a href="/medgen/906018" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 12">Immunodeficiency, common variable, 12</a></span></li><li><span class="TLline"><a href="/medgen/1614928" ref="tree=MeSH" title="MedGen record for Immunodeficiency, common variable, 14">Immunodeficiency, common variable, 14</a></span></li><li><span class="TLline"><a href="/medgen/905078" ref="tree=MeSH" title="MedGen record for Pancytopenia due to IKZF1 mutations">Pancytopenia due to IKZF1 mutations</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1378836" ref="tree=MeSH" title="MedGen record for Constitutional mismatch repair deficiency syndrome">Constitutional mismatch repair deficiency syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/78553" ref="tree=MeSH" title="MedGen record for Turcot syndrome">Turcot syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5420" ref="tree=MeSH" title="MedGen record for Cowden syndrome">Cowden syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/39008" ref="tree=MeSH" title="MedGen record for Proteus syndrome">Proteus syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78580" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita">Dyskeratosis congenita</a></span><ul><li><span class="TLline"><a href="/medgen/502504" ref="tree=MeSH" title="MedGen record for Autosomal recessive dyskeratosis congenita">Autosomal recessive dyskeratosis congenita</a></span></li><li><span class="TLline"><a href="/medgen/462794" ref="tree=MeSH" title="MedGen record for Autosomal recessive dyskeratosis congenita 4">Autosomal recessive dyskeratosis congenita 4</a></span></li><li><span class="TLline"><a href="/medgen/1645250" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 1">Dyskeratosis congenita, autosomal dominant 1</a></span></li><li><span class="TLline"><a href="/medgen/462793" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 2">Dyskeratosis congenita, autosomal dominant 2</a></span></li><li><span class="TLline"><a href="/medgen/462795" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 3">Dyskeratosis congenita, autosomal dominant 3</a></span></li><li><span class="TLline"><a href="/medgen/904824" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 6">Dyskeratosis congenita, autosomal dominant 6</a></span></li><li><span class="TLline"><a href="/medgen/341705" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 1">Dyskeratosis congenita, autosomal recessive 1</a></span></li><li><span class="TLline"><a href="/medgen/462791" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 2">Dyskeratosis congenita, autosomal recessive 2</a></span></li><li><span class="TLline"><a href="/medgen/462792" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 3">Dyskeratosis congenita, autosomal recessive 3</a></span></li><li><span class="TLline"><a href="/medgen/767570" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 5">Dyskeratosis congenita, autosomal recessive 5</a></span></li><li><span class="TLline"><a href="/medgen/905452" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 6">Dyskeratosis congenita, autosomal recessive 6</a></span></li><li><span class="TLline"><a href="/medgen/216941" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, X-linked">Dyskeratosis congenita, X-linked</a></span></li><li><span class="TLline"><a href="/medgen/231230" ref="tree=MeSH" title="MedGen record for Revesz syndrome">Revesz syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/41775" ref="tree=MeSH" title="MedGen record for Enchondromatosis">Enchondromatosis</a></span></li><li><span class="TLline"><a href="/medgen/41831" ref="tree=MeSH" title="MedGen record for Epidermodysplasia verruciformis">Epidermodysplasia verruciformis</a></span></li><li><span class="TLline"><a href="/medgen/86230" ref="tree=MeSH" title="MedGen record for Euthyroid goiter">Euthyroid goiter</a></span><ul><li><span class="TLline"><a href="/medgen/335327" ref="tree=MeSH" title="MedGen record for Euthyroid multinodular goiter">Euthyroid multinodular goiter</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/389220" ref="tree=MeSH" title="MedGen record for Familial atypical multiple mole melanoma syndrome">Familial atypical multiple mole melanoma syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/320506" ref="tree=MeSH" title="MedGen record for Melanoma, cutaneous malignant, susceptibility to, 1">Melanoma, cutaneous malignant, susceptibility to, 1</a></span></li><li><span class="TLline"><a href="/medgen/325450" ref="tree=MeSH" title="MedGen record for Melanoma-pancreatic cancer syndrome">Melanoma-pancreatic cancer syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/482833" ref="tree=MeSH" title="MedGen record for Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome">Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome</a></span></li><li><span class="TLline"><a href="/medgen/46010" ref="tree=MeSH" title="MedGen record for Familial multiple polyposis syndrome">Familial multiple polyposis syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1788749" ref="tree=MeSH" title="MedGen record for Familial adenomatous polyposis due to 5q22.2 microdeletion">Familial adenomatous polyposis due to 5q22.2 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/6547" ref="tree=MeSH" title="MedGen record for Gardner syndrome">Gardner syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1826134" ref="tree=MeSH" title="MedGen record for Turcot syndrome with polyposis">Turcot syndrome with polyposis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/40219" ref="tree=MeSH" title="MedGen record for Fibrous dysplasia of jaw">Fibrous dysplasia of jaw</a></span></li><li><span class="TLline"><a href="/medgen/1657285" ref="tree=MeSH" title="MedGen record for Gastric adenocarcinoma and proximal polyposis of the stomach">Gastric adenocarcinoma and proximal polyposis of the stomach</a></span></li><li><span class="TLline"><a href="/medgen/436218" ref="tree=MeSH" title="MedGen record for Gastrointestinal stromal tumor, familial">Gastrointestinal stromal tumor, familial</a></span></li><li><span class="TLline"><a href="/medgen/1677024" ref="tree=MeSH" title="MedGen record for GCGR-related hyperglucagonemia">GCGR-related hyperglucagonemia</a></span></li><li><span class="TLline"><a href="/medgen/2554" ref="tree=MeSH" title="MedGen record for Gorlin syndrome">Gorlin syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1054819" ref="tree=MeSH" title="MedGen record for Basal cell nevus syndrome 1">Basal cell nevus syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1841087" ref="tree=MeSH" title="MedGen record for Basal cell nevus syndrome 2">Basal cell nevus syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/151793" ref="tree=MeSH" title="MedGen record for Hereditary breast ovarian cancer syndrome">Hereditary breast ovarian cancer syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/231922" ref="tree=MeSH" title="MedGen record for BRCA1-Associated Hereditary Breast and Ovarian Cancer Syndrome">BRCA1-Associated Hereditary Breast and Ovarian Cancer Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/231923" ref="tree=MeSH" title="MedGen record for BRCA2-Associated Hereditary Breast and Ovarian Cancer Syndrome">BRCA2-Associated Hereditary Breast and Ovarian Cancer Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/382914" ref="tree=MeSH" title="MedGen record for Breast-ovarian cancer, familial, susceptibility to, 1">Breast-ovarian cancer, familial, susceptibility to, 1</a></span></li><li><span class="TLline"><a href="/medgen/382625" ref="tree=MeSH" title="MedGen record for Breast-ovarian cancer, familial, susceptibility to, 2">Breast-ovarian cancer, familial, susceptibility to, 2</a></span></li><li><span class="TLline"><a href="/medgen/462009" ref="tree=MeSH" title="MedGen record for Breast-ovarian cancer, familial, susceptibility to, 3">Breast-ovarian cancer, familial, susceptibility to, 3</a></span></li><li><span class="TLline"><a href="/medgen/481975" ref="tree=MeSH" title="MedGen record for Breast-ovarian cancer, familial, susceptibility to, 4">Breast-ovarian cancer, familial, susceptibility to, 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1712465" ref="tree=MeSH" title="MedGen record for Hereditary Colorectal Cancer Syndrome">Hereditary Colorectal Cancer Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/232602" ref="tree=MeSH" title="MedGen record for Hereditary nonpolyposis colon cancer">Hereditary nonpolyposis colon cancer</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/353771" ref="tree=MeSH" title="MedGen record for Hereditary leiomyomatosis and renal cell cancer">Hereditary leiomyomatosis and renal cell cancer</a></span></li><li><span class="TLline"><a href="/medgen/1711283" ref="tree=MeSH" title="MedGen record for Hereditary Myelodysplastic Syndrome">Hereditary Myelodysplastic Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1710410" ref="tree=MeSH" title="MedGen record for SAMD9-Associated Hereditary Myelodysplastic Syndrome">SAMD9-Associated Hereditary Myelodysplastic Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1719321" ref="tree=MeSH" title="MedGen record for SAMD9L-Associated Hereditary Myelodysplastic Syndrome">SAMD9L-Associated Hereditary Myelodysplastic Syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/40399" ref="tree=MeSH" title="MedGen record for Hereditary nonpolyposis colorectal neoplasms">Hereditary nonpolyposis colorectal neoplasms</a></span></li><li><span class="TLline"><a href="/medgen/313270" ref="tree=MeSH" title="MedGen record for Hereditary pheochromocytoma-paraganglioma">Hereditary pheochromocytoma-paraganglioma</a></span><ul><li><span class="TLline"><a href="/medgen/488134" ref="tree=MeSH" title="MedGen record for Paragangliomas 1">Paragangliomas 1</a></span></li><li><span class="TLline"><a href="/medgen/357076" ref="tree=MeSH" title="MedGen record for Paragangliomas 2">Paragangliomas 2</a></span></li><li><span class="TLline"><a href="/medgen/340200" ref="tree=MeSH" title="MedGen record for Paragangliomas 3">Paragangliomas 3</a></span></li><li><span class="TLline"><a href="/medgen/349380" ref="tree=MeSH" title="MedGen record for Paragangliomas 4">Paragangliomas 4</a></span></li><li><span class="TLline"><a href="/medgen/481622" ref="tree=MeSH" title="MedGen record for Paragangliomas 5">Paragangliomas 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/155869" ref="tree=MeSH" title="MedGen record for Hereditary retinoblastoma">Hereditary retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/458917" ref="tree=MeSH" title="MedGen record for Inherited bone marrow failure syndrome">Inherited bone marrow failure syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/266045" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia">Diamond-Blackfan anemia</a></span></li><li><span class="TLline"><a href="/medgen/182696" ref="tree=MeSH" title="MedGen record for Hypoplastic anemia - familial">Hypoplastic anemia - familial</a></span></li><li><span class="TLline"><a href="/medgen/124418" ref="tree=MeSH" title="MedGen record for Shwachman syndrome">Shwachman syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/87518" ref="tree=MeSH" title="MedGen record for Juvenile polyposis syndrome">Juvenile polyposis syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/356898" ref="tree=MeSH" title="MedGen record for Generalized juvenile polyposis/juvenile polyposis coli">Generalized juvenile polyposis/juvenile polyposis coli</a></span></li><li><span class="TLline"><a href="/medgen/1778573" ref="tree=MeSH" title="MedGen record for Juvenile polyposis of infancy">Juvenile polyposis of infancy</a></span></li><li><span class="TLline"><a href="/medgen/331400" ref="tree=MeSH" title="MedGen record for Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome">Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1713491" ref="tree=MeSH" title="MedGen record for Kostmann syndrome">Kostmann syndrome</a></span></li><li><span class="TLline"><a href="/medgen/88399" ref="tree=MeSH" title="MedGen record for Li-Fraumeni syndrome">Li-Fraumeni syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/322930" ref="tree=MeSH" title="MedGen record for CHEK2-Associated Li-Fraumeni-Like Syndrome">CHEK2-Associated Li-Fraumeni-Like Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/322656" ref="tree=MeSH" title="MedGen record for Li-Fraumeni syndrome 1">Li-Fraumeni syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1849727" ref="tree=MeSH" title="MedGen record for Li-Fraumeni syndrome 2">Li-Fraumeni syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/7437" ref="tree=MeSH" title="MedGen record for Maffucci syndrome">Maffucci syndrome</a></span></li><li><span class="TLline"><a href="/medgen/331890" ref="tree=MeSH" title="MedGen record for Melanoma and neural system tumor syndrome">Melanoma and neural system tumor syndrome</a></span></li><li><span class="TLline"><a href="/medgen/463554" ref="tree=MeSH" title="MedGen record for Melanoma, cutaneous malignant, susceptibility to, 8">Melanoma, cutaneous malignant, susceptibility to, 8</a></span></li><li><span class="TLline"><a href="/medgen/1748029" ref="tree=MeSH" title="MedGen record for Mismatch repair cancer syndrome 1">Mismatch repair cancer syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/381529" ref="tree=MeSH" title="MedGen record for Monosomy 7 myelodysplasia and leukemia syndrome 1">Monosomy 7 myelodysplasia and leukemia syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/4612" ref="tree=MeSH" title="MedGen record for Multiple congenital exostosis">Multiple congenital exostosis</a></span><ul><li><span class="TLline"><a href="/medgen/377018" ref="tree=MeSH" title="MedGen record for Exostoses, multiple, type 2">Exostoses, multiple, type 2</a></span></li><li><span class="TLline"><a href="/medgen/333090" ref="tree=MeSH" title="MedGen record for Exostoses, multiple, type III">Exostoses, multiple, type III</a></span></li><li><span class="TLline"><a href="/medgen/870708" ref="tree=MeSH" title="MedGen record for Multiple digital exostoses">Multiple digital exostoses</a></span></li><li><span class="TLline"><a href="/medgen/332012" ref="tree=MeSH" title="MedGen record for Multiple long-bone exostoses">Multiple long-bone exostoses</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45036" ref="tree=MeSH" title="MedGen record for Multiple endocrine neoplasia">Multiple endocrine neoplasia</a></span><ul><li><span class="TLline"><a href="/medgen/373469" ref="tree=MeSH" title="MedGen record for Multiple endocrine neoplasia type 4">Multiple endocrine neoplasia type 4</a></span></li><li><span class="TLline"><a href="/medgen/9958" ref="tree=MeSH" title="MedGen record for Multiple endocrine neoplasia type 2A">Multiple endocrine neoplasia type 2A</a></span></li><li><span class="TLline"><a href="/medgen/9959" ref="tree=MeSH" title="MedGen record for Multiple endocrine neoplasia type 2B">Multiple endocrine neoplasia type 2B</a></span></li><li><span class="TLline"><a href="/medgen/9957" ref="tree=MeSH" title="MedGen record for Multiple endocrine neoplasia, type 1">Multiple endocrine neoplasia, type 1</a></span></li><li><span class="TLline"><a href="/medgen/887211" ref="tree=MeSH" title="MedGen record for Multiple endocrine neoplasia, type 2">Multiple endocrine neoplasia, type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/83396" ref="tree=MeSH" title="MedGen record for Multiple Self Healing Epithelioma of Ferguson-Smith">Multiple Self Healing Epithelioma of Ferguson-Smith</a></span></li><li><span class="TLline"><a href="/medgen/10221" ref="tree=MeSH" title="MedGen record for Nephroblastoma">Nephroblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/231045" ref="tree=MeSH" title="MedGen record for Adult kidney Wilms tumor">Adult kidney Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/231375" ref="tree=MeSH" title="MedGen record for Anaplastic Kidney Wilms Tumor">Anaplastic Kidney Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/83528" ref="tree=MeSH" title="MedGen record for Blastema predominant kidney Wilms tumor">Blastema predominant kidney Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/273129" ref="tree=MeSH" title="MedGen record for Cervical Wilms tumor">Cervical Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/232073" ref="tree=MeSH" title="MedGen record for Childhood kidney Wilms tumor">Childhood kidney Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/181980" ref="tree=MeSH" title="MedGen record for Drash syndrome">Drash syndrome</a></span></li><li><span class="TLline"><a href="/medgen/76000" ref="tree=MeSH" title="MedGen record for Epithelial predominant Wilms tumor">Epithelial predominant Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/146190" ref="tree=MeSH" title="MedGen record for Hereditary Wilms tumor">Hereditary Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/989515" ref="tree=MeSH" title="MedGen record for Kidney Wilms tumor">Kidney Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/233696" ref="tree=MeSH" title="MedGen record for Metachronous kidney Wilms tumor">Metachronous kidney Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/76001" ref="tree=MeSH" title="MedGen record for Mixed cell type kidney Wilms tumor">Mixed cell type kidney Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/277434" ref="tree=MeSH" title="MedGen record for Nonanaplastic kidney Wilms tumor">Nonanaplastic kidney Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/275296" ref="tree=MeSH" title="MedGen record for Ovarian Wilms tumor">Ovarian Wilms tumor</a></span></li><li><span class="TLline"><a href="/medgen/1688293" ref="tree=MeSH" title="MedGen record for Paratesticular Wilms Tumor">Paratesticular Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/1697590" ref="tree=MeSH" title="MedGen record for Prostate Wilms Tumor">Prostate Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/78873" ref="tree=MeSH" title="MedGen record for Recurrent Kidney Wilms Tumor">Recurrent Kidney Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/124499" ref="tree=MeSH" title="MedGen record for Stage I Kidney Wilms Tumor">Stage I Kidney Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/75860" ref="tree=MeSH" title="MedGen record for Stage II Kidney Wilms Tumor">Stage II Kidney Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/124500" ref="tree=MeSH" title="MedGen record for Stage III Kidney Wilms Tumor">Stage III Kidney Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/78871" ref="tree=MeSH" title="MedGen record for Stage IV Kidney Wilms Tumor">Stage IV Kidney Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/78872" ref="tree=MeSH" title="MedGen record for Stage V Kidney Wilms Tumor">Stage V Kidney Wilms Tumor</a></span></li><li><span class="TLline"><a href="/medgen/83529" ref="tree=MeSH" title="MedGen record for Stromal predominant kidney Wilms tumor">Stromal predominant kidney Wilms tumor</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82706" ref="tree=MeSH" title="MedGen record for Neurocutaneous syndrome">Neurocutaneous syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1646345" ref="tree=MeSH" title="MedGen record for Linear nevus sebaceous syndrome">Linear nevus sebaceous syndrome</a></span></li><li><span class="TLline"><a href="/medgen/58149" ref="tree=MeSH" title="MedGen record for Neurofibromatosis">Neurofibromatosis</a></span></li><li><span class="TLline"><a href="/medgen/21361" ref="tree=MeSH" title="MedGen record for Sturge-Weber syndrome">Sturge-Weber syndrome</a></span></li><li><span class="TLline"><a href="/medgen/22518" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis syndrome">Tuberous sclerosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/42458" ref="tree=MeSH" title="MedGen record for Von Hippel-Lindau syndrome">Von Hippel-Lindau syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/18013" ref="tree=MeSH" title="MedGen record for Neurofibromatosis, type 1">Neurofibromatosis, type 1</a></span><ul><li><span class="TLline"><a href="/medgen/1726802" ref="tree=MeSH" title="MedGen record for Chromosome 17q11.2 deletion syndrome, 1.4Mb">Chromosome 17q11.2 deletion syndrome, 1.4Mb</a></span></li><li><span class="TLline"><a href="/medgen/1842855" ref="tree=MeSH" title="MedGen record for Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion">Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion</a></span></li><li><span class="TLline"><a href="/medgen/1643872" ref="tree=MeSH" title="MedGen record for Neurofibromatosis Type 1 with Inoperable, Progressive, Symptomatic Plexiform Neurofibromas">Neurofibromatosis Type 1 with Inoperable, Progressive, Symptomatic Plexiform Neurofibromas</a></span></li><li><span class="TLline"><a href="/medgen/1668269" ref="tree=MeSH" title="MedGen record for Recurrent Neurofibromatosis Type 1">Recurrent Neurofibromatosis Type 1</a></span></li><li><span class="TLline"><a href="/medgen/1656136" ref="tree=MeSH" title="MedGen record for Refractory Neurofibromatosis Type 1">Refractory Neurofibromatosis Type 1</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/78554" ref="tree=MeSH" title="MedGen record for Bannayan-Riley-Ruvalcaba syndrome">Bannayan-Riley-Ruvalcaba syndrome</a></span></li><li><span class="TLline"><a href="/medgen/833619" ref="tree=MeSH" title="MedGen record for Cowden syndrome 1">Cowden syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/140251" ref="tree=MeSH" title="MedGen record for Lhermitte-Duclos disease">Lhermitte-Duclos disease</a></span></li><li><span class="TLline"><a href="/medgen/356222" ref="tree=MeSH" title="MedGen record for Proteus-like syndrome">Proteus-like syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1637405" ref="tree=MeSH" title="MedGen record for Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome">Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/457750" ref="tree=MeSH" title="MedGen record for Rhabdoid tumor predisposition syndrome">Rhabdoid tumor predisposition syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/322892" ref="tree=MeSH" title="MedGen record for Rhabdoid tumor predisposition syndrome 1">Rhabdoid tumor predisposition syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/413749" ref="tree=MeSH" title="MedGen record for Rhabdoid tumor predisposition syndrome 2">Rhabdoid tumor predisposition syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/95931" ref="tree=MeSH" title="MedGen record for Roberts-SC phocomelia syndrome">Roberts-SC phocomelia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/10819" ref="tree=MeSH" title="MedGen record for Rothmund-Thomson syndrome">Rothmund-Thomson syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1684764" ref="tree=MeSH" title="MedGen record for Rothmund-Thomson syndrome type 1">Rothmund-Thomson syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/1684753" ref="tree=MeSH" title="MedGen record for Rothmund-Thomson syndrome type 2">Rothmund-Thomson syndrome type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/234775" ref="tree=MeSH" title="MedGen record for Schwannomatosis">Schwannomatosis</a></span></li><li><span class="TLline"><a href="/medgen/1799992" ref="tree=MeSH" title="MedGen record for Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome">Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/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/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/52657" ref="tree=MeSH" title="MedGen record for Hereditary hemorrhagic telangiectasia">Hereditary hemorrhagic telangiectasia</a></span><ul><li><span class="TLline"><a href="/medgen/371403" ref="tree=MeSH" title="MedGen record for Hereditary hemorrhagic telangiectasia type 3">Hereditary hemorrhagic telangiectasia type 3</a></span></li><li><span class="TLline"><a href="/medgen/341824" ref="tree=MeSH" title="MedGen record for Hereditary hemorrhagic telangiectasia type 4">Hereditary hemorrhagic telangiectasia type 4</a></span></li><li><span class="TLline"><a href="/medgen/1643786" ref="tree=MeSH" title="MedGen record for Telangiectasia, hereditary hemorrhagic, type 1">Telangiectasia, hereditary hemorrhagic, type 1</a></span></li><li><span class="TLline"><a href="/medgen/324960" ref="tree=MeSH" title="MedGen record for Telangiectasia, hereditary hemorrhagic, type 2">Telangiectasia, hereditary hemorrhagic, type 2</a></span></li><li><span class="TLline"><a href="/medgen/816040" ref="tree=MeSH" title="MedGen record for Telangiectasia, hereditary hemorrhagic, type 5">Telangiectasia, hereditary hemorrhagic, type 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/272730" ref="tree=MeSH" title="MedGen record for Hyperimmunoglobulin syndrome">Hyperimmunoglobulin syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/854488" ref="tree=MeSH" title="MedGen record for Hyper-IgE syndrome">Hyper-IgE syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1842902" ref="tree=MeSH" title="MedGen record for CADINS disease">CADINS disease</a></span></li><li><span class="TLline"><a href="/medgen/445391" ref="tree=MeSH" title="MedGen record for Hyper-IgE recurrent infection syndrome 1, autosomal dominant">Hyper-IgE recurrent infection syndrome 1, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/862808" ref="tree=MeSH" title="MedGen record for Immunodeficiency 23">Immunodeficiency 23</a></span></li><li><span class="TLline"><a href="/medgen/1802991" ref="tree=MeSH" title="MedGen record for Netherton syndrome">Netherton syndrome</a></span></li><li><span class="TLline"><a href="/medgen/816049" ref="tree=MeSH" title="MedGen record for Severe dermatitis-multiple allergies-metabolic wasting syndrome">Severe dermatitis-multiple allergies-metabolic wasting syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/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></ul></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/6217" ref="tree=MeSH" title="MedGen record for Maple syrup urine disease">Maple syrup urine disease</a></span><ul><li><span class="TLline"><a href="/medgen/78689" ref="tree=MeSH" title="MedGen record for Classical maple syrup urine disease">Classical maple syrup urine disease</a></span></li><li><span class="TLline"><a href="/medgen/301223" ref="tree=MeSH" title="MedGen record for Intermediate maple syrup urine disease">Intermediate maple syrup urine disease</a></span></li><li><span class="TLline"><a href="/medgen/78690" ref="tree=MeSH" title="MedGen record for Intermittent maple syrup urine disease">Intermittent maple syrup urine disease</a></span></li><li><span class="TLline"><a href="/medgen/343337" ref="tree=MeSH" title="MedGen record for Maple syrup urine disease type 2">Maple syrup urine disease type 2</a></span></li><li><span class="TLline"><a href="/medgen/383668" ref="tree=MeSH" title="MedGen record for Maple syrup urine disease type 1A">Maple syrup urine disease type 1A</a></span></li><li><span class="TLline"><a href="/medgen/443951" ref="tree=MeSH" title="MedGen record for Maple syrup urine disease type 1B">Maple syrup urine disease type 1B</a></span></li><li><span class="TLline"><a href="/medgen/199627" ref="tree=MeSH" title="MedGen record for Thiamine-responsive maple syrup urine disease">Thiamine-responsive maple syrup urine disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5697" ref="tree=MeSH" title="MedGen record for Primary hyperoxaluria">Primary hyperoxaluria</a></span><ul><li><span class="TLline"><a href="/medgen/462228" ref="tree=MeSH" title="MedGen record for Primary hyperoxaluria type 3">Primary hyperoxaluria type 3</a></span></li><li><span class="TLline"><a href="/medgen/75658" ref="tree=MeSH" title="MedGen record for Primary hyperoxaluria, type I">Primary hyperoxaluria, type I</a></span></li><li><span class="TLline"><a href="/medgen/120616" ref="tree=MeSH" title="MedGen record for Primary hyperoxaluria, type II">Primary hyperoxaluria, type II</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/4698" ref="tree=MeSH" title="MedGen record for Progressive myositis ossificans">Progressive myositis ossificans</a></span></li><li><span class="TLline"><a href="/medgen/1663719" ref="tree=MeSH" title="MedGen record for PTEN Deficiency">PTEN Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1792298" ref="tree=MeSH" title="MedGen record for RASopathy">RASopathy</a></span><ul><li><span class="TLline"><a href="/medgen/334007" ref="tree=MeSH" title="MedGen record for Capillary malformation-arteriovenous malformation syndrome">Capillary malformation-arteriovenous malformation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/266149" ref="tree=MeSH" title="MedGen record for Cardio-facio-cutaneous syndrome">Cardio-facio-cutaneous syndrome</a></span></li><li><span class="TLline"><a href="/medgen/852267" ref="tree=MeSH" title="MedGen record for Cardiofaciocutaneous syndrome 1">Cardiofaciocutaneous syndrome 1</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/1647111" ref="tree=MeSH" title="MedGen record for Fibromatosis, gingival, 1">Fibromatosis, gingival, 1</a></span></li><li><span class="TLline"><a href="/medgen/138109" ref="tree=MeSH" title="MedGen record for Juvenile myelomonocytic leukemia">Juvenile myelomonocytic leukemia</a></span></li><li><span class="TLline"><a href="/medgen/370709" ref="tree=MeSH" title="MedGen record for Legius syndrome">Legius syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98377" ref="tree=MeSH" title="MedGen record for Metachondromatosis">Metachondromatosis</a></span></li><li><span class="TLline"><a href="/medgen/18073" ref="tree=MeSH" title="MedGen record for Noonan syndrome">Noonan syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1638960" ref="tree=MeSH" title="MedGen record for Noonan syndrome 1">Noonan syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/344290" ref="tree=MeSH" title="MedGen record for Noonan syndrome 2">Noonan syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/349931" ref="tree=MeSH" title="MedGen record for Noonan syndrome 3">Noonan syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/339908" ref="tree=MeSH" title="MedGen record for Noonan syndrome 4">Noonan syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/370589" ref="tree=MeSH" title="MedGen record for Noonan syndrome 5">Noonan syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/413028" ref="tree=MeSH" title="MedGen record for Noonan syndrome 6">Noonan syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/462320" ref="tree=MeSH" title="MedGen record for Noonan syndrome 7">Noonan syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/815563" ref="tree=MeSH" title="MedGen record for Noonan syndrome 8">Noonan syndrome 8</a></span></li><li><span class="TLline"><a href="/medgen/896352" ref="tree=MeSH" title="MedGen record for Noonan syndrome 9">Noonan syndrome 9</a></span></li><li><span class="TLline"><a href="/medgen/902892" ref="tree=MeSH" title="MedGen record for Noonan syndrome 10">Noonan syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/1681177" ref="tree=MeSH" title="MedGen record for Noonan syndrome 11">Noonan syndrome 11</a></span></li><li><span class="TLline"><a href="/medgen/1684730" ref="tree=MeSH" title="MedGen record for Noonan syndrome 12">Noonan syndrome 12</a></span></li><li><span class="TLline"><a href="/medgen/1761918" ref="tree=MeSH" title="MedGen record for Noonan syndrome 13">Noonan syndrome 13</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/104494" ref="tree=MeSH" title="MedGen record for Noonan syndrome with multiple lentigines">Noonan syndrome with multiple lentigines</a></span><ul><li><span class="TLline"><a href="/medgen/1631694" ref="tree=MeSH" title="MedGen record for LEOPARD syndrome 1">LEOPARD syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/370588" ref="tree=MeSH" title="MedGen record for LEOPARD syndrome 2">LEOPARD syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/462321" ref="tree=MeSH" title="MedGen record for LEOPARD syndrome 3">LEOPARD syndrome 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/334697" ref="tree=MeSH" title="MedGen record for Noonan syndrome-like disorder with loose anagen hair">Noonan syndrome-like disorder with loose anagen hair</a></span><ul><li><span class="TLline"><a href="/medgen/1379805" ref="tree=MeSH" title="MedGen record for Noonan syndrome-like disorder with loose anagen hair 1">Noonan syndrome-like disorder with loose anagen hair 1</a></span></li><li><span class="TLline"><a href="/medgen/1376945" ref="tree=MeSH" title="MedGen record for Noonan syndrome-like disorder with loose anagen hair 2">Noonan syndrome-like disorder with loose anagen hair 2</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1789040" ref="tree=MeSH" title="MedGen record for Repeat Expansion Disease">Repeat Expansion Disease</a></span><ul><li><span class="TLline"><a href="/medgen/9841" ref="tree=MeSH" title="MedGen record for Azorean disease">Azorean disease</a></span><ul><li><span class="TLline"><a href="/medgen/155610" ref="tree=MeSH" title="MedGen record for Machado-Joseph disease type 1">Machado-Joseph disease type 1</a></span></li><li><span class="TLline"><a href="/medgen/199707" ref="tree=MeSH" title="MedGen record for Machado-Joseph disease type 2">Machado-Joseph disease type 2</a></span></li><li><span class="TLline"><a href="/medgen/155611" ref="tree=MeSH" title="MedGen record for Machado-Joseph disease type 3">Machado-Joseph disease type 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/155630" ref="tree=MeSH" title="MedGen record for Dentatorubral-pallidoluysian atrophy">Dentatorubral-pallidoluysian atrophy</a></span></li><li><span class="TLline"><a href="/medgen/333403" ref="tree=MeSH" title="MedGen record for Fragile X-associated tremor/ataxia syndrome">Fragile X-associated tremor/ataxia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/5276" ref="tree=MeSH" title="MedGen record for Friedreich ataxia">Friedreich ataxia</a></span><ul><li><span class="TLline"><a href="/medgen/383962" ref="tree=MeSH" title="MedGen record for Friedreich ataxia 1">Friedreich ataxia 1</a></span></li><li><span class="TLline"><a href="/medgen/356134" ref="tree=MeSH" title="MedGen record for Friedreich ataxia 2">Friedreich ataxia 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5654" ref="tree=MeSH" title="MedGen record for Huntington disease">Huntington disease</a></span><ul><li><span class="TLline"><a href="/medgen/155518" ref="tree=MeSH" title="MedGen record for Juvenile Huntington disease">Juvenile Huntington disease</a></span></li><li><span class="TLline"><a href="/medgen/224821" ref="tree=MeSH" title="MedGen record for Westphal disease">Westphal disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75730" ref="tree=MeSH" title="MedGen record for Oculopharyngeal muscular dystrophy">Oculopharyngeal muscular dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1054618" ref="tree=MeSH" title="MedGen record for Oculopharyngeal muscular dystrophy 1">Oculopharyngeal muscular dystrophy 1</a></span></li><li><span class="TLline"><a href="/medgen/1841318" ref="tree=MeSH" title="MedGen record for Oculopharyngeal muscular dystrophy 2">Oculopharyngeal muscular dystrophy 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/156006" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia 7">Spinocerebellar ataxia 7</a></span></li><li><span class="TLline"><a href="/medgen/155703" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 1">Spinocerebellar ataxia type 1</a></span></li><li><span class="TLline"><a href="/medgen/155704" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 2">Spinocerebellar ataxia type 2</a></span></li><li><span class="TLline"><a href="/medgen/483339" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 36">Spinocerebellar ataxia type 36</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/856639" ref="tree=MeSH" title="MedGen record for Short Stature Homeobox Deficiency">Short Stature Homeobox Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/363064" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy">Trichothiodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/355730" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy 1, photosensitive">Trichothiodystrophy 1, photosensitive</a></span></li><li><span class="TLline"><a href="/medgen/905904" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy 2, photosensitive">Trichothiodystrophy 2, photosensitive</a></span></li><li><span class="TLline"><a href="/medgen/865608" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy 3, photosensitive">Trichothiodystrophy 3, photosensitive</a></span></li><li><span class="TLline"><a href="/medgen/272036" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy 4, nonphotosensitive">Trichothiodystrophy 4, nonphotosensitive</a></span></li><li><span class="TLline"><a href="/medgen/1684762" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy 7, nonphotosensitive">Trichothiodystrophy 7, nonphotosensitive</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/443623" ref="tree=MeSH" title="MedGen record for X-Linked Inherited Disorder">X-Linked Inherited Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/78083" ref="tree=MeSH" title="MedGen record for Cardiac valvular dysplasia, X-linked">Cardiac valvular dysplasia, X-linked</a></span></li><li><span class="TLline"><a href="/medgen/337451" ref="tree=MeSH" title="MedGen record for Creatine transporter deficiency">Creatine transporter deficiency</a></span></li><li><span class="TLline"><a href="/medgen/196551" ref="tree=MeSH" title="MedGen record for Familial X-linked hypophosphatemic vitamin D refractory rickets">Familial X-linked hypophosphatemic vitamin D refractory rickets</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/394385" ref="tree=MeSH" title="MedGen record for X-linked erythropoietic protoporphyria">X-linked erythropoietic protoporphyria</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
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<div class="nl"><a target="_blank" href="/pubmed/37878314">Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen E,
|
||
Facio FM,
|
||
Aradhya KW,
|
||
Rojahn S,
|
||
Hatchell KE,
|
||
Aguilar S,
|
||
Ouyang K,
|
||
Saitta S,
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||
Hanson-Kwan AK,
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||
Capurro NN,
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||
Takamine E,
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||
Jamuar SS,
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||
McKnight D,
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||
Johnson B,
|
||
Aradhya S</span><br />
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||
<span class="medgenPMjournal">JAMA Netw Open</span>
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||
2023 Oct 2;6(10):e2339571.
|
||
doi: 10.1001/jamanetworkopen.2023.39571.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37878314" target="_blank">37878314</a><a href="/pmc/articles/PMC10600581" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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|
||
<div class="nl"><a target="_blank" href="/pubmed/36098675">S2k guideline: Laser therapy of the skin.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Paasch U,
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||
Zidane M,
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||
Baron JM,
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||
Bund T,
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||
Cappius HJ,
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||
Drosner M,
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||
Feise K,
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||
Fischer T,
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||
Gauglitz G,
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||
Gerber PA,
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||
Grunewald S,
|
||
Herberger K,
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||
Jung A,
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||
Karsai S,
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||
Kautz G,
|
||
Philipp C,
|
||
Schädel D,
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||
Seitz AT,
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||
Nast A</span><br />
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||
<span class="medgenPMjournal">J Dtsch Dermatol Ges</span>
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||
2022 Sep;20(9):1248-1267.
|
||
Epub 2022 Sep 13
|
||
doi: 10.1111/ddg.14879.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36098675" target="_blank">36098675</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35569551">Update of treatment for Gaucher disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kong W,
|
||
Lu C,
|
||
Ding Y,
|
||
Meng Y</span><br />
|
||
<span class="medgenPMjournal">Eur J Pharmacol</span>
|
||
2022 Jul 5;926:175023.
|
||
Epub 2022 May 13
|
||
doi: 10.1016/j.ejphar.2022.175023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35569551" target="_blank">35569551</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hereditary%20disease%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (123)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://publications.aap.org/pediatrics/article/131/3/620/31026/Ethical-and-Policy-Issues-in-Genetic-Testing-and" target="_blank">Ethical and Policy Issues in Genetic Testing and Screening of Children, Pediatrics (2013) 131 (3): 620–622.</a></h3>
|
||
</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/35400636">Recent Status in Brugada Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bayrak F,
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||
Brugada P</span><br />
|
||
<span class="medgenPMjournal">Turk Kardiyol Dern Ars</span>
|
||
2022 Mar 1;50(2):137-144.
|
||
doi: 10.5543/tkda.2022.21020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35400636" target="_blank">35400636</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34670806">Lung cancer is also a hereditary disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benusiglio PR,
|
||
Fallet V,
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||
Sanchis-Borja M,
|
||
Coulet F,
|
||
Cadranel J</span><br />
|
||
<span class="medgenPMjournal">Eur Respir Rev</span>
|
||
2021 Dec 31;30(162)
|
||
Epub 2021 Oct 20
|
||
doi: 10.1183/16000617.0045-2021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34670806" target="_blank">34670806</a><a href="/pmc/articles/PMC9488670" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32930426">Dyskeratosis congenita: a literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">AlSabbagh MM</span><br />
|
||
<span class="medgenPMjournal">J Dtsch Dermatol Ges</span>
|
||
2020 Sep;18(9):943-967.
|
||
Epub 2020 Sep 15
|
||
doi: 10.1111/ddg.14268.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32930426" target="_blank">32930426</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24854265">Improving mutation screening in familial hematuric nephropathies through next generation sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morinière V,
|
||
Dahan K,
|
||
Hilbert P,
|
||
Lison M,
|
||
Lebbah S,
|
||
Topa A,
|
||
Bole-Feysot C,
|
||
Pruvost S,
|
||
Nitschke P,
|
||
Plaisier E,
|
||
Knebelmann B,
|
||
Macher MA,
|
||
Noel LH,
|
||
Gubler MC,
|
||
Antignac C,
|
||
Heidet L</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Nephrol</span>
|
||
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Kawasaki T,
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/26908513">Incidence of adult Huntington's disease in the UK: a UK-based primary care study and a systematic review.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20disease%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0019247%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0019247%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16039)</a></li>
|
||
<li><a href="/gtr/tests?term=C0019247%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0019247%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0019247%5bDISCUI%5d&filter=method%3A3%5F32" target="_blank">Karyotyping (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C0019247%5bDISCUI%5d&filter=method%3A2%5F13" target="_blank">Linkage analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0019247%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0019247%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C0019247%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (3589)</a></li>
|
||
<li><a href="/gtr/tests?term=C0019247%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0019247%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (367)</a></li>
|
||
<li><a href="/gtr/tests?term=C0019247%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (17596)</a></li>
|
||
<li><a href="/gtr/tests?term=C0019247%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (38)</a></li>
|
||
<li><a href="/gtr/tests?term=C0019247%5bDISCUI%5d&filter=method%3A2%5F20" target="_blank">Uniparental disomy study (UPD) (9)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0019247%5bDISCUI%5d" target="_blank">See all (22751)</a></total></li>
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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=(%22hereditary%20disease%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Hereditary%20disease%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://publications.aap.org/pediatrics/article/131/3/620/31026/Ethical-and-Policy-Issues-in-Genetic-Testing-and">AAP, 2013</a><div>Ethical and Policy Issues in Genetic Testing and Screening of Children, Pediatrics (2013) 131 (3): 620–622.</div></li></ul></div>
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