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<meta name="keywords" content="C2020284, aom, arthroophthalmopathy, hereditary progressive, col2a1, col2a1-associated stickler syndrome, col2a1-related stickler syndrome, disease or syndrome, hereditary arthro-ophthalmo-dystrophy, hereditary arthro-ophthalmopathy, hereditary progressive arthro-ophthalmopathy, stickler dysplasia, stickler syndrome, stickler syndrome type 1, stickler syndrome, membranous vitreous type, stickler syndrome, type 1, stickler syndrome, type i, stickler syndrome, vitreous type 1, stl1, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Pierre Robin sequence); and early-onset degenerative joint disease. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=810955
|
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ConceptID=C2020284
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Stickler syndrome type 1<span class="h1sub">(STL1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>810955</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.">C2020284</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>ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; COL2A1-Associated Stickler Syndrome; COL2A1-Related Stickler Syndrome; STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE; STICKLER SYNDROME, VITREOUS TYPE 1; STL1</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hereditary arthro-ophthalmopathy (78675000); Stickler syndrome type 1 (1010668008); Hereditary progressive arthro-ophthalmopathy (78675000)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="COL2A1 - ID: 1280 - NCBI Gene" href="/gene/1280" class="medgenPMinfo">COL2A1</a> (12q13.11)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007160" target="_blank">MONDO:0007160</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/108300" target="_blank">108300</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90653">ORPHA90653</a></td></tr></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">
|
||
<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">Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Pierre Robin sequence); and early-onset degenerative joint disease. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Stickler syndrome is a clinically variable and genetically heterogeneous disorder characterized by ocular, auditory, skeletal, and orofacial abnormalities. Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts. Additional findings may include midline clefting (cleft palate or bifid uvula), Pierre Robin sequence, flat midface, sensorineural or conductive hearing loss, mild spondyloepiphyseal dysplasia, and early-onset osteoarthritis (summary by Baker et al., 2011).
|
||
Genetic Heterogeneity of Stickler Syndrome
|
||
See 609508 for a form of Stickler syndrome type I that is solely or predominantly ocular and is also caused by mutation in the COL2A1 gene. Stickler syndrome type II (STL2; 604841), sometimes called the beaded vitreous type, is caused by mutation in the COL11A1 gene (120280) on chromosome 1p21. These forms of Stickler syndrome are autosomal dominant.
|
||
Autosomal recessive forms of Stickler syndrome include Stickler syndrome type IV (STL4; 614134), caused by mutation in the COL9A1 gene (120210) on chromosome 6q13,; Stickler syndrome type V (STL5; 614284), caused by mutation in the COL9A2 gene (120260) on chromosome 1p34; and Stickler syndrome type VI (STL6; 620022), caused by mutation in the COL9A3 gene (120270) on chromosome 20q13.
|
||
A disorder previously designated Stickler syndrome type III (STL3), or 'nonocular Stickler syndrome,' has been reclassified as a form of otospondylomegaepiphyseal dysplasia (OSMEDA; 184840). <a target="_blank" href="http://www.omim.org/entry/108300">http://www.omim.org/entry/108300</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Stickler syndrome is a group of hereditary conditions that are characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals, even among members of the same family.<br /><br />A characteristic feature of Stickler syndrome is a flattened facial appearance that results from underdeveloped bones in the middle of the face. A particular group of physical features called Pierre Robin sequence is also common in people with Stickler syndrome. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). This combination of features can lead to feeding problems and difficulty breathing after birth.<br /><br />Many individuals with Stickler syndrome have severe nearsightedness (high myopia), which means they have trouble seeing things that are far away. In some cases, the clear gel that fills the eyeball (the vitreous) has an abnormal appearance, which is noticeable during an eye examination. Other eye problems are also common in people with Stickler syndrome, including increased pressure within the eye (glaucoma), clouding of the lens of the eyes (cataracts), and tearing of the light-sensitive tissue at the back of the eye (retinal detachment). These eye abnormalities can impair vision and may lead to blindness.<br /><br />Hearing loss is also common in people with Stickler syndrome. In affected individuals, the degree of hearing loss can vary and may worsen over time. People with Stickler syndrome typically have sensorineural hearing loss (caused by changes in the inner ear) with or without conductive hearing loss (caused by changes in the middle ear).<br /><br />Most people with Stickler syndrome have joint abnormalities. Arthritis often develops early in life and may cause joint pain or stiffness. People with severe joint disease may need surgery to replace damaged joints in their 20s or 30s. Affected individuals may also have abnormal curvature of the spine (scoliosis or kyphosis) that causes back pain.<br /><br />Researchers have described several types of Stickler syndrome, which are distinguished by their genetic causes, features, and patterns of inheritance. In particular, the eye abnormalities and severity of hearing loss vary among the different types. Some types of Stickler syndrome are very rare and have been diagnosed in only a few individuals. <a target="_blank" href="https://medlineplus.gov/genetics/condition/stickler-syndrome">https://medlineplus.gov/genetics/condition/stickler-syndrome</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_13917"><div><strong>Arthralgia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13917</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.">C0003862</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Joint pain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/13917">Feature record</a> | <a href="/medgen?term=%22Arthralgia%22%5BClinical%20Features%5D%20OR%2013917%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2047"><div><strong>Arachnodactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2047</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.">C0003706</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally long and slender fingers (spider fingers).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2047">Feature record</a> | <a href="/medgen?term=%22Arachnodactyly%22%5BClinical%20Features%5D%20OR%202047%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7671"><div><strong>Mitral valve prolapse</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7671</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.">C0026267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7671">Feature record</a> | <a href="/medgen?term=%22Mitral%20valve%20prolapse%22%5BClinical%20Features%5D%20OR%207671%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_323048"><div><strong>Disproportionate tall stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323048</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.">C1836996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323048">Feature record</a> | <a href="/medgen?term=%22Disproportionate%20tall%20stature%22%5BClinical%20Features%5D%20OR%20323048%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9163"><div><strong>Conductive hearing impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9163</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.">C0018777</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9163">Feature record</a> | <a href="/medgen?term=%22Conductive%20hearing%20impairment%22%5BClinical%20Features%5D%20OR%209163%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9164"><div><strong>Sensorineural hearing loss disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9164</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.">C0018784</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9164">Feature record</a> | <a href="/medgen?term=%22Sensorineural%20hearing%20loss%20disorder%22%5BClinical%20Features%5D%20OR%209164%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2043"><div><strong>Arthritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2043</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.">C0003864</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of a joint.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2043">Feature record</a> | <a href="/medgen?term=%22Arthritis%22%5BClinical%20Features%5D%20OR%202043%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7190"><div><strong>Arthropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7190</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.">C0022408</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any disorder of the joints.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7190">Feature record</a> | <a href="/medgen?term=%22Arthropathy%22%5BClinical%20Features%5D%20OR%207190%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44042"><div><strong>Kyphosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44042</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.">C0022821</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Exaggerated anterior convexity of the thoracic vertebral column.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44042">Feature record</a> | <a href="/medgen?term=%22Kyphosis%22%5BClinical%20Features%5D%20OR%2044042%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44428"><div><strong>Micrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44428</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.">C0025990</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental hypoplasia of the mandible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44428">Feature record</a> | <a href="/medgen?term=%22Micrognathia%22%5BClinical%20Features%5D%20OR%2044428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45244"><div><strong>Osteoarthritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45244</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.">C0029408</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteoarthritis (OA) is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis (Meulenbelt et al., 2006). Clinical problems include pain and joint stiffness often leading to significant disability and joint replacement. Osteoarthritis exhibits a clear predilection for specific joints; it appears most commonly in the hip and knee joints and lumbar and cervical spine, as well as in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints of the hand; however, patients with osteoarthritis may have 1, a few, or all of these sites affected (Stefansson et al., 2003). According to a conservative estimate, greater than 70% of the population of the United States at age 65 years is affected by the disease, reflecting its age dependence. Genetic Heterogeneity of Susceptibility to Osteoarthritis Susceptibility to osteoarthritis has been associated with variation in other genes: OS2 (140600) with variation in the MATN3 gene (602109) on chromosome 2p24; OS3 (607850) with variation in the ASPN gene (608135) on chromosome 9q22; and OS5 (612400) with variation in the GDF5 gene (601146) on chromosome 20q11. Other susceptibility loci for osteoarthritis have been mapped to chromosomes 2q33 (OS4; 610839) and 3p24 (OS6; 612401).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45244">Feature record</a> | <a href="/medgen?term=%22Osteoarthritis%22%5BClinical%20Features%5D%20OR%2045244%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19885"><div><strong>Juvenile osteochondrosis of spine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19885</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.">C0036310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Scheuermann disease is characterized by lumbar or thoracic kyphosis or both, back pain, and a variety of vertebral changes including wedging, endplate irregularity, narrowing of disc spaces, Schmorl nodes, and detached epiphyseal rings. It is reported to occur more frequently in boys than in girls (summary by McKenzie and Sillence, 1992).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19885">Feature record</a> | <a href="/medgen?term=%22Juvenile%20osteochondrosis%20of%20spine%22%5BClinical%20Features%5D%20OR%2019885%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</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.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20916"><div><strong>Spondyloepiphyseal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20916</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.">C0038015</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20916">Feature record</a> | <a href="/medgen?term=%22Spondyloepiphyseal%20dysplasia%22%5BClinical%20Features%5D%20OR%2020916%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52470"><div><strong>Spondylolisthesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52470</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.">C0038016</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondylolisthesis is defined as forward slipping of a vertebral body on the one below it. Spondylolysis is defined as a defect in the pars interarticularis without vertebral slipping (summary by Wiltse et al., 1975).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52470">Feature record</a> | <a href="/medgen?term=%22Spondylolisthesis%22%5BClinical%20Features%5D%20OR%2052470%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56403"><div><strong>Joint stiffness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56403</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.">C0162298</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56403">Feature record</a> | <a href="/medgen?term=%22Joint%20stiffness%22%5BClinical%20Features%5D%20OR%2056403%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_335010"><div><strong>Platyspondyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335010</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.">C1844704</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A flattened vertebral body shape with reduced distance between the vertebral endplates.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335010">Feature record</a> | <a href="/medgen?term=%22Platyspondyly%22%5BClinical%20Features%5D%20OR%20335010%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336793"><div><strong>Joint hypermobility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336793</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.">C1844820</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336793">Feature record</a> | <a href="/medgen?term=%22Joint%20hypermobility%22%5BClinical%20Features%5D%20OR%20336793%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340592"><div><strong>Irregular femoral epiphysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340592</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.">C1850658</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340592">Feature record</a> | <a href="/medgen?term=%22Irregular%20femoral%20epiphysis%22%5BClinical%20Features%5D%20OR%20340592%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341588"><div><strong>Beaking of vertebral bodies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341588</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.">C1856599</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anterior tongue-like protrusions of the vertebral bodies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341588">Feature record</a> | <a href="/medgen?term=%22Beaking%20of%20vertebral%20bodies%22%5BClinical%20Features%5D%20OR%20341588%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347616"><div><strong>Malar flattening</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347616</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.">C1858085</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347616">Feature record</a> | <a href="/medgen?term=%22Malar%20flattening%22%5BClinical%20Features%5D%20OR%20347616%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_781174"><div><strong>Pectus excavatum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>781174</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.">C2051831</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/781174">Feature record</a> | <a href="/medgen?term=%22Pectus%20excavatum%22%5BClinical%20Features%5D%20OR%20781174%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870585"><div><strong>Abnormal femoral epiphysis morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870585</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.">C4025034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An anomaly of a growth plate of a femur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870585">Feature record</a> | <a href="/medgen?term=%22Abnormal%20femoral%20epiphysis%20morphology%22%5BClinical%20Features%5D%20OR%20870585%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19310"><div><strong>Isolated Pierre-Robin syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19310</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.">C0031900</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to life-threatening obstructive apnea and feeding difficulties during the neonatal period (summary by Tan et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19310">Feature record</a> | <a href="/medgen?term=%22Isolated%20Pierre-Robin%20syndrome%22%5BClinical%20Features%5D%20OR%2019310%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98472"><div><strong>Submucous cleft hard palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98472</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.">C0432103</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98472">Feature record</a> | <a href="/medgen?term=%22Submucous%20cleft%20hard%20palate%22%5BClinical%20Features%5D%20OR%2098472%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373112"><div><strong>Depressed nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373112</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.">C1836542</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Posterior positioning of the nasal root in relation to the overall facial profile for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373112">Feature record</a> | <a href="/medgen?term=%22Depressed%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20373112%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326648"><div><strong>Anteverted nares</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326648</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.">C1840077</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326648">Feature record</a> | <a href="/medgen?term=%22Anteverted%20nares%22%5BClinical%20Features%5D%20OR%20326648%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_339938"><div><strong>Midface retrusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339938</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.">C1853242</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339938">Feature record</a> | <a href="/medgen?term=%22Midface%20retrusion%22%5BClinical%20Features%5D%20OR%20339938%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_756015"><div><strong>Cleft palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>756015</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.">C2981150</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/756015">Feature record</a> | <a href="/medgen?term=%22Cleft%20palate%22%5BClinical%20Features%5D%20OR%20756015%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1646931"><div><strong>Bifid uvula</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646931</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.">C4551488</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Uvula separated into two parts most easily seen at the tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646931">Feature record</a> | <a href="/medgen?term=%22Bifid%20uvula%22%5BClinical%20Features%5D%20OR%201646931%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42224"><div><strong>Glaucoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42224</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.">C0017601</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42224">Feature record</a> | <a href="/medgen?term=%22Glaucoma%22%5BClinical%20Features%5D%20OR%2042224%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44558"><div><strong>Myopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44558</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.">C0027092</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44558">Feature record</a> | <a href="/medgen?term=%22Myopia%22%5BClinical%20Features%5D%20OR%2044558%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19759"><div><strong>Retinal detachment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19759</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.">C0035305</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19759">Feature record</a> | <a href="/medgen?term=%22Retinal%20detachment%22%5BClinical%20Features%5D%20OR%2019759%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39462"><div><strong>Cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39462</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.">C0086543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39462">Feature record</a> | <a href="/medgen?term=%22Cataract%22%5BClinical%20Features%5D%20OR%2039462%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87480"><div><strong>Vitreoretinopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87480</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.">C0344290</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87480">Feature record</a> | <a href="/medgen?term=%22Vitreoretinopathy%22%5BClinical%20Features%5D%20OR%2087480%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99138"><div><strong>Blindness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99138</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.">C0456909</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99138">Feature record</a> | <a href="/medgen?term=%22Blindness%22%5BClinical%20Features%5D%20OR%2099138%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1386132"><div><strong>Membranous vitreous appearance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1386132</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.">C4477006</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1386132">Feature record</a> | <a href="/medgen?term=%22Membranous%20vitreous%20appearance%22%5BClinical%20Features%5D%20OR%201386132%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1642357"><div><strong>Retinal hole</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642357</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.">C4551442</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A small break in the retina.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1642357">Feature record</a> | <a href="/medgen?term=%22Retinal%20hole%22%5BClinical%20Features%5D%20OR%201642357%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anteverted nares</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1646931" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bifid uvula</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_756015" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depressed nasal bridge</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated Pierre-Robin syndrome</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_339938" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Midface retrusion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98472" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Submucous cleft hard palate</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arachnodactyly</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7671" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitral valve prolapse</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99138" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blindness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39462" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42224" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glaucoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1386132" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Membranous vitreous appearance</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44558" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19759" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal detachment</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1642357" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal hole</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87480" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vitreoretinopathy</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870585" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal femoral epiphysis morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2043" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthritis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7190" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthropathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341588" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Beaking of vertebral bodies</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340592" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Irregular femoral epiphysis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint hypermobility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56403" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint stiffness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19885" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Juvenile osteochondrosis of spine</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44042" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kyphosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347616" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malar flattening</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micrognathia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45244" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteoarthritis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_781174" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pectus excavatum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335010" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Platyspondyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20916" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52470" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylolisthesis</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_13917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthralgia</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9163" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Conductive hearing impairment</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sensorineural hearing loss disorder</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_323048" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Disproportionate tall stature</a></span></li></ul></li></ul></div></div>
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</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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0236038[DISCUI]&test_type=Clinical" ref="ncbi_uid=65923">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=65923">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=65923" ref="ncbi_uid=65923">V</a></span></span><span class="TLline"><a href="/medgen/65923" ref="tree=GTR&ncbi_uid=65923&link_uid=65923" title="View MedGen record for 'Hereditary hearing loss and deafness'">Hereditary hearing loss and deafness</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1567741[DISCUI]&test_type=Clinical" ref="ncbi_uid=339209">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=339209" ref="ncbi_uid=339209">V</a></span></span><span class="TLline"><a href="/medgen/339209" ref="tree=GTR&ncbi_uid=339209&link_uid=339209" title="View MedGen record for 'Alport syndrome'">Alport syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5882663[DISCUI]&test_type=Clinical" ref="ncbi_uid=1848787">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1848787" target="_blank" href="/omim/104200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1207/" ref="ncbi_uid=1848787">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1848787" ref="ncbi_uid=1848787">V</a></span></span><span class="TLline"><a href="/medgen/1848787" ref="tree=GTR&ncbi_uid=1848787&link_uid=1848787" title="View MedGen record for 'Autosomal dominant Alport syndrome'">Autosomal dominant Alport syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4746745[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648334">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648334" target="_blank" href="/omim/120131">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1207/" ref="ncbi_uid=1648334">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648334" ref="ncbi_uid=1648334">V</a></span></span><span class="TLline"><a href="/medgen/1648334" ref="tree=GTR&ncbi_uid=1648334&link_uid=1648334" title="View MedGen record for 'Autosomal recessive Alport syndrome'">Autosomal recessive Alport syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4746986[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648433">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648433" target="_blank" href="/omim/301050">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1207/" ref="ncbi_uid=1648433">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648433" ref="ncbi_uid=1648433">V</a></span></span><span class="TLline"><a href="/medgen/1648433" ref="tree=GTR&ncbi_uid=1648433&link_uid=1648433" title="View MedGen record for 'X-linked Alport syndrome'">X-linked Alport syndrome</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0220754[DISCUI]&test_type=Clinical" ref="ncbi_uid=66323">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=66323" target="_blank" href="/omim/253260">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1322/" ref="ncbi_uid=66323">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=66323" ref="ncbi_uid=66323">V</a></span></span><span class="TLline"><a href="/medgen/66323" ref="tree=GTR&ncbi_uid=66323&link_uid=66323" title="View MedGen record for 'Biotinidase deficiency'">Biotinidase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN043574[DISCUI]&test_type=Clinical" ref="ncbi_uid=432724">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1380/" ref="ncbi_uid=432724">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=432724" ref="ncbi_uid=432724">V</a></span></span><span class="TLline"><a href="/medgen/432724" ref="tree=GTR&ncbi_uid=432724&link_uid=432724" title="View MedGen record for 'Branchiootorenal Spectrum Disorders'">Branchiootorenal Spectrum Disorders</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842124[DISCUI]&test_type=Clinical" ref="ncbi_uid=333995">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=333995" target="_blank" href="/omim/601205">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1380/" ref="ncbi_uid=333995">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=333995" ref="ncbi_uid=333995">V</a></span></span><span class="TLline"><a href="/medgen/333995" ref="tree=GTR&ncbi_uid=333995&link_uid=333995" title="View MedGen record for 'Branchiootic syndrome 3'">Branchiootic syndrome 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551702[DISCUI]&test_type=Clinical" ref="ncbi_uid=1632634">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1632634" target="_blank" href="/omim/113650">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1380/" ref="ncbi_uid=1632634">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1632634" ref="ncbi_uid=1632634">V</a></span></span><span class="TLline"><a href="/medgen/1632634" ref="tree=GTR&ncbi_uid=1632634&link_uid=1632634" title="View MedGen record for 'Branchiootorenal syndrome 1'">Branchiootorenal syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1970479[DISCUI]&test_type=Clinical" ref="ncbi_uid=410081">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=410081" target="_blank" href="/omim/600963">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1380/" ref="ncbi_uid=410081">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=410081" ref="ncbi_uid=410081">V</a></span></span><span class="TLline"><a href="/medgen/410081" ref="tree=GTR&ncbi_uid=410081&link_uid=410081" title="View MedGen record for 'Branchiootorenal syndrome 2'">Branchiootorenal syndrome 2</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0796074[DISCUI]&test_type=Clinical" ref="ncbi_uid=162903">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=162903" target="_blank" href="/omim/300356">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1216/" ref="ncbi_uid=162903">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=162903" ref="ncbi_uid=162903">V</a></span></span><span class="TLline"><a href="/medgen/162903" ref="tree=GTR&ncbi_uid=162903&link_uid=162903" title="View MedGen record for 'Deafness dystonia syndrome'">Deafness dystonia syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551509[DISCUI]&test_type=Clinical" ref="ncbi_uid=1646925">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1646925" target="_blank" href="/omim/220400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1405/" ref="ncbi_uid=1646925">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1646925" ref="ncbi_uid=1646925">V</a></span></span><span class="TLline"><a href="/medgen/1646925" ref="tree=GTR&ncbi_uid=1646925&link_uid=1646925" title="View MedGen record for 'Jervell and Lange-Nielsen syndrome 1'">Jervell and Lange-Nielsen syndrome 1</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2676723[DISCUI]&test_type=Clinical" ref="ncbi_uid=394108">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=394108" target="_blank" href="/omim/176261">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1405/" ref="ncbi_uid=394108">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=394108" ref="ncbi_uid=394108">V</a></span></span><span class="TLline"><a href="/medgen/394108" ref="tree=GTR&ncbi_uid=394108&link_uid=394108" title="View MedGen record for 'Jervell and Lange-Nielsen syndrome 2'">Jervell and Lange-Nielsen syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551647[DISCUI]&test_type=Clinical" ref="ncbi_uid=1641146">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1641146" target="_blank" href="/omim/192500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=1641146">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1641146" ref="ncbi_uid=1641146">V</a></span></span><span class="TLline"><a href="/medgen/1641146" ref="tree=GTR&ncbi_uid=1641146&link_uid=1641146" title="View MedGen record for 'Long QT syndrome 1'">Long QT syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1867904[DISCUI]&test_type=Clinical" ref="ncbi_uid=358092">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=358092" target="_blank" href="/omim/176261">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=358092">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=358092" ref="ncbi_uid=358092">V</a></span></span><span class="TLline"><a href="/medgen/358092" ref="tree=GTR&ncbi_uid=358092&link_uid=358092" title="View MedGen record for 'Long QT syndrome 5'">Long QT syndrome 5</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0751651[DISCUI]&test_type=Clinical" ref="ncbi_uid=155901">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1224/" ref="ncbi_uid=155901">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=155901" ref="ncbi_uid=155901">V</a></span></span><span class="TLline"><a href="/medgen/155901" ref="tree=GTR&ncbi_uid=155901&link_uid=155901" title="View MedGen record for 'Mitochondrial disease'">Mitochondrial disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0342779[DISCUI]&test_type=Clinical" ref="ncbi_uid=452448">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/452448" ref="tree=GTR&ncbi_uid=452448&link_uid=452448" title="View MedGen record for 'Complex V deficiency'">Complex V deficiency</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3279699[DISCUI]&test_type=Clinical" ref="ncbi_uid=481329">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481329" target="_blank" href="/omim/612418">O</a></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=481329" ref="ncbi_uid=481329">V</a></span></span><span class="TLline"><a href="/medgen/481329" ref="tree=GTR&ncbi_uid=481329&link_uid=481329" title="View MedGen record for 'Mitochondrial complex V (ATP synthase) deficiency nuclear type 2'">Mitochondrial complex V (ATP synthase) deficiency nuclear type 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3279708[DISCUI]&test_type=Clinical" ref="ncbi_uid=481338">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481338" target="_blank" href="/omim/606153">O</a></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=481338" ref="ncbi_uid=481338">V</a></span></span><span class="TLline"><a href="/medgen/481338" ref="tree=GTR&ncbi_uid=481338&link_uid=481338" title="View MedGen record for 'Mitochondrial complex V (ATP synthase) deficiency nuclear type 3'">Mitochondrial complex V (ATP synthase) deficiency nuclear type 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3276276[DISCUI]&test_type=Clinical" ref="ncbi_uid=477906">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=477906" target="_blank" href="/omim/604273">O</a></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=477906" ref="ncbi_uid=477906">V</a></span></span><span class="TLline"><a href="/medgen/477906" ref="tree=GTR&ncbi_uid=477906&link_uid=477906" title="View MedGen record for 'Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1'">Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931891[DISCUI]&test_type=Clinical" ref="ncbi_uid=419518">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419518" target="_blank" href="/omim/256000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1173%20OR%20NBK1203%20OR%20NBK1224%20OR%20NBK320989)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=419518">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419518" ref="ncbi_uid=419518">V</a></span></span><span class="TLline"><a href="/medgen/419518" ref="tree=GTR&ncbi_uid=419518&link_uid=419518" title="View MedGen record for 'Leigh syndrome'">Leigh syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857355[DISCUI]&test_type=Clinical" ref="ncbi_uid=387801">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=387801" target="_blank" href="/omim/220111">O</a></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=387801" ref="ncbi_uid=387801">V</a></span></span><span class="TLline"><a href="/medgen/387801" ref="tree=GTR&ncbi_uid=387801&link_uid=387801" title="View MedGen record for 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type'">Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280112[DISCUI]&test_type=Clinical" ref="ncbi_uid=481742">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481742" target="_blank" href="/omim/603967">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1168/" ref="ncbi_uid=481742">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481742" ref="ncbi_uid=481742">V</a></span></span><span class="TLline"><a href="/medgen/481742" ref="tree=GTR&ncbi_uid=481742&link_uid=481742" title="View MedGen record for 'Congenital myasthenic syndrome 16'">Congenital myasthenic syndrome 16</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN043625[DISCUI]&test_type=Clinical" ref="ncbi_uid=432733">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK320989/" ref="ncbi_uid=432733">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/432733" ref="tree=GTR&ncbi_uid=432733&link_uid=432733" title="View MedGen record for 'Leigh Syndrome (nuclear DNA mutation)'">Leigh Syndrome (nuclear DNA mutation)</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838951[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=333220">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=333220" target="_blank" href="/omim/516001">O</a></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=333220" ref="ncbi_uid=333220">V</a></span></span><span class="TLline"><a href="/medgen/333220" ref="tree=GTR&ncbi_uid=333220&link_uid=333220" title="View MedGen record for 'Leigh syndrome due to mitochondrial complex I deficiency'">Leigh syndrome due to mitochondrial complex I deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/342542" ref="tree=GTR&ncbi_uid=342542&link_uid=342542" title="View MedGen record for 'Leigh syndrome due to mitochondrial complex II deficiency'">Leigh syndrome due to mitochondrial complex II deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850598[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=376834">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/376834" ref="tree=GTR&ncbi_uid=376834&link_uid=376834" title="View MedGen record for 'Leigh syndrome due to mitochondrial complex III deficiency'">Leigh syndrome due to mitochondrial complex III deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/376835" ref="tree=GTR&ncbi_uid=376835&link_uid=376835" title="View MedGen record for 'Leigh syndrome due to mitochondrial complex V deficiency'">Leigh syndrome due to mitochondrial complex V deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=443976" target="_blank" href="/omim/500017">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/443976" ref="tree=GTR&ncbi_uid=443976&link_uid=443976" title="View MedGen record for 'Maternally-inherited Leigh syndrome'">Maternally-inherited Leigh syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331718" target="_blank" href="/omim/161700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1173/" ref="ncbi_uid=331718">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/331718" ref="tree=GTR&ncbi_uid=331718&link_uid=331718" title="View MedGen record for 'Necrotizing encephalomyelopathy, subacute, of Leigh, adult'">Necrotizing encephalomyelopathy, subacute, of Leigh, adult</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0034341[DISCUI]&test_type=Clinical" ref="ncbi_uid=18801">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=18801" target="_blank" href="/omim/266150">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK6852/" ref="ncbi_uid=18801">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=18801" ref="ncbi_uid=18801">V</a></span></span><span class="TLline"><a href="/medgen/18801" ref="tree=GTR&ncbi_uid=18801&link_uid=18801" title="View MedGen record for 'Pyruvate carboxylase deficiency'">Pyruvate carboxylase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0034345[DISCUI]&test_type=Clinical" ref="ncbi_uid=19610">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=19610" target="_blank" href="/omim/312170">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK571223/" ref="ncbi_uid=19610">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=19610" ref="ncbi_uid=19610">V</a></span></span><span class="TLline"><a href="/medgen/19610" ref="tree=GTR&ncbi_uid=19610&link_uid=19610" title="View MedGen record for 'Pyruvate dehydrogenase complex deficiency'">Pyruvate dehydrogenase complex deficiency</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838979[DISCUI]&test_type=Clinical" ref="ncbi_uid=374101">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=374101" target="_blank" href="/omim/252010">O</a></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=374101" ref="ncbi_uid=374101">V</a></span></span><span class="TLline"><a href="/medgen/374101" ref="tree=GTR&ncbi_uid=374101&link_uid=374101" title="View MedGen record for 'Mitochondrial complex I deficiency'">Mitochondrial complex I deficiency</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648371" target="_blank" href="/omim/500014">O</a></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=1648371" ref="ncbi_uid=1648371">V</a></span></span><span class="TLline"><a href="/medgen/1648371" ref="tree=GTR&ncbi_uid=1648371&link_uid=1648371" title="View MedGen record for 'Mitochondrial complex 1 deficiency, mitochondrial type 1'">Mitochondrial complex 1 deficiency, mitochondrial type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN257533[DISCUI]&test_type=Clinical" ref="ncbi_uid=940569">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=940569" ref="ncbi_uid=940569">V</a></span></span><span class="TLline"><a href="/medgen/940569" ref="tree=GTR&ncbi_uid=940569&link_uid=940569" title="View MedGen record for 'Mitochondrial complex I deficiency, nuclear type 1'">Mitochondrial complex I deficiency, nuclear type 1</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5700310[DISCUI]&test_type=Clinical" ref="ncbi_uid=1814582">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1814582" target="_blank" href="/omim/252011">O</a></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=1814582" ref="ncbi_uid=1814582">V</a></span></span><span class="TLline"><a href="/medgen/1814582" ref="tree=GTR&ncbi_uid=1814582&link_uid=1814582" title="View MedGen record for 'Mitochondrial complex II deficiency, nuclear type 1'">Mitochondrial complex II deficiency, nuclear type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3541471[DISCUI]&test_type=Clinical" ref="ncbi_uid=762097">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=762097" target="_blank" href="/omim/124000">O</a></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=762097" ref="ncbi_uid=762097">V</a></span></span><span class="TLline"><a href="/medgen/762097" ref="tree=GTR&ncbi_uid=762097&link_uid=762097" title="View MedGen record for 'Mitochondrial complex III deficiency nuclear type 1'">Mitochondrial complex III deficiency nuclear type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5435656[DISCUI]&test_type=Clinical" ref="ncbi_uid=1750917">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1750917" target="_blank" href="/omim/185620">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK320989/" ref="ncbi_uid=1750917">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1750917" ref="ncbi_uid=1750917">V</a></span></span><span class="TLline"><a href="/medgen/1750917" ref="tree=GTR&ncbi_uid=1750917&link_uid=1750917" title="View MedGen record for 'Mitochondrial complex IV deficiency, nuclear type 1'">Mitochondrial complex IV deficiency, nuclear type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN043632[DISCUI]&test_type=Clinical" ref="ncbi_uid=433158">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1203/" ref="ncbi_uid=433158">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/433158" ref="tree=GTR&ncbi_uid=433158&link_uid=433158" title="View MedGen record for 'Mitochondrial DNA Deletion Syndromes'">Mitochondrial DNA Deletion Syndromes</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0022541[DISCUI]&test_type=Clinical" ref="ncbi_uid=9618">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=9618" target="_blank" href="/omim/530000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1203%20OR%20NBK1224)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=9618">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=9618" ref="ncbi_uid=9618">V</a></span></span><span class="TLline"><a href="/medgen/9618" ref="tree=GTR&ncbi_uid=9618&link_uid=9618" title="View MedGen record for 'Kearns-Sayre syndrome'">Kearns-Sayre syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3554462[DISCUI]&test_type=Clinical" ref="ncbi_uid=767376">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=767376" target="_blank" href="/omim/615076">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK487393/" ref="ncbi_uid=767376">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=767376" ref="ncbi_uid=767376">V</a></span></span><span class="TLline"><a href="/medgen/767376" ref="tree=GTR&ncbi_uid=767376&link_uid=767376" title="View MedGen record for 'Mitochondrial DNA depletion syndrome 11'">Mitochondrial DNA depletion syndrome 11</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4310690[DISCUI]&test_type=Clinical" ref="ncbi_uid=934657">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934657" target="_blank" href="/omim/600438">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK487393/" ref="ncbi_uid=934657">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=934657" ref="ncbi_uid=934657">V</a></span></span><span class="TLline"><a href="/medgen/934657" ref="tree=GTR&ncbi_uid=934657&link_uid=934657" title="View MedGen record for 'Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)'">Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4707428[DISCUI]&test_type=Clinical" ref="ncbi_uid=1637084">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1637084" ref="tree=GTR&ncbi_uid=1637084&link_uid=1637084" title="View MedGen record for 'Mitochondrial DNA depletion syndrome, encephalomyopathic form'">Mitochondrial DNA depletion syndrome, encephalomyopathic form</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0342784[DISCUI]&test_type=Clinical" ref="ncbi_uid=87459">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=87459" target="_blank" href="/omim/557000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1203/" ref="ncbi_uid=87459">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=87459" ref="ncbi_uid=87459">V</a></span></span><span class="TLline"><a href="/medgen/87459" ref="tree=GTR&ncbi_uid=87459&link_uid=87459" title="View MedGen record for 'Pearson syndrome'">Pearson syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0162674[DISCUI]&test_type=Clinical" ref="ncbi_uid=102439">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=102439" ref="ncbi_uid=102439">V</a></span></span><span class="TLline"><a href="/medgen/102439" ref="tree=GTR&ncbi_uid=102439&link_uid=102439" title="View MedGen record for 'Progressive external ophthalmoplegia'">Progressive external ophthalmoplegia</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=381541" target="_blank" href="/omim/251945">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1224/" ref="ncbi_uid=381541">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/381541" ref="tree=GTR&ncbi_uid=381541&link_uid=381541" title="View MedGen record for 'Mitochondrial myopathy with a defect in mitochondrial-protein transport'">Mitochondrial myopathy with a defect in mitochondrial-protein transport</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151897[DISCUI]&test_type=Clinical" ref="ncbi_uid=463247">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=463247" target="_blank" href="/omim/500008">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1422%20OR%20NBK1434)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=463247">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=463247" ref="ncbi_uid=463247">V</a></span></span><span class="TLline"><a href="/medgen/463247" ref="tree=GTR&ncbi_uid=463247&link_uid=463247" title="View MedGen record for 'Mitochondrial non-syndromic sensorineural hearing loss'">Mitochondrial non-syndromic sensorineural hearing loss</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1328349[DISCUI]&test_type=Clinical" ref="ncbi_uid=231285">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=231285" target="_blank" href="/omim/516060">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1173%20OR%20NBK1224)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=231285">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=231285" ref="ncbi_uid=231285">V</a></span></span><span class="TLline"><a href="/medgen/231285" ref="tree=GTR&ncbi_uid=231285&link_uid=231285" title="View MedGen record for 'NARP syndrome'">NARP syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=374113" target="_blank" href="/omim/500003">O</a></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=374113" ref="ncbi_uid=374113">V</a></span></span><span class="TLline"><a href="/medgen/374113" ref="tree=GTR&ncbi_uid=374113&link_uid=374113" title="View MedGen record for 'Striatonigral degeneration, infantile, mitochondrial'">Striatonigral degeneration, infantile, mitochondrial</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0027832[DISCUI]&test_type=Clinical" ref="ncbi_uid=18014">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=18014" target="_blank" href="/omim/101000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1201/" ref="ncbi_uid=18014">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=18014" ref="ncbi_uid=18014">V</a></span></span><span class="TLline"><a href="/medgen/18014" ref="tree=GTR&ncbi_uid=18014&link_uid=18014" title="View MedGen record for 'Neurofibromatosis, type 2'">Neurofibromatosis, type 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5680182[DISCUI]&test_type=Clinical" ref="ncbi_uid=1830101">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=1830101" ref="ncbi_uid=1830101">V</a></span></span><span class="TLline"><a href="/medgen/1830101" ref="tree=GTR&ncbi_uid=1830101&link_uid=1830101" title="View MedGen record for 'Nonsyndromic genetic hearing loss'">Nonsyndromic genetic hearing loss</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5779548[DISCUI]&test_type=Clinical" ref="ncbi_uid=1843285">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=1843285" ref="ncbi_uid=1843285">V</a></span></span><span class="TLline"><a href="/medgen/1843285" ref="tree=GTR&ncbi_uid=1843285&link_uid=1843285" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss'">Autosomal dominant nonsyndromic hearing loss</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1852282[DISCUI]&test_type=Clinical" ref="ncbi_uid=343767">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343767" target="_blank" href="/omim/124900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=343767">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343767" ref="ncbi_uid=343767">V</a></span></span><span class="TLline"><a href="/medgen/343767" ref="tree=GTR&ncbi_uid=343767&link_uid=343767" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 1'">Autosomal dominant nonsyndromic hearing loss 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832932[DISCUI]&test_type=Clinical" ref="ncbi_uid=331398">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331398" target="_blank" href="/omim/600994">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=331398">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=331398" ref="ncbi_uid=331398">V</a></span></span><span class="TLline"><a href="/medgen/331398" ref="tree=GTR&ncbi_uid=331398&link_uid=331398" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 5'">Autosomal dominant nonsyndromic hearing loss 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1833021[DISCUI]&test_type=Clinical" ref="ncbi_uid=331419">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331419" target="_blank" href="/omim/600965">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1434%20OR%20NBK4144)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=331419">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=331419" ref="ncbi_uid=331419">V</a></span></span><span class="TLline"><a href="/medgen/331419" ref="tree=GTR&ncbi_uid=331419&link_uid=331419" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 6'">Autosomal dominant nonsyndromic hearing loss 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832379[DISCUI]&test_type=Clinical" ref="ncbi_uid=318614">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=318614" target="_blank" href="/omim/600298">O</a></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=318614" ref="ncbi_uid=318614">V</a></span></span><span class="TLline"><a href="/medgen/318614" ref="tree=GTR&ncbi_uid=318614&link_uid=318614" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 7'">Autosomal dominant nonsyndromic hearing loss 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832425[DISCUI]&test_type=Clinical" ref="ncbi_uid=371327">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=371327" target="_blank" href="/omim/601369">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=371327">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=371327" ref="ncbi_uid=371327">V</a></span></span><span class="TLline"><a href="/medgen/371327" ref="tree=GTR&ncbi_uid=371327&link_uid=371327" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 9'">Autosomal dominant nonsyndromic hearing loss 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832476[DISCUI]&test_type=Clinical" ref="ncbi_uid=321966">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=321966" target="_blank" href="/omim/601316">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=321966">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=321966" ref="ncbi_uid=321966">V</a></span></span><span class="TLline"><a href="/medgen/321966" ref="tree=GTR&ncbi_uid=321966&link_uid=321966" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 10'">Autosomal dominant nonsyndromic hearing loss 10</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832475[DISCUI]&test_type=Clinical" ref="ncbi_uid=331297">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331297" target="_blank" href="/omim/276903">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=331297">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=331297" ref="ncbi_uid=331297">V</a></span></span><span class="TLline"><a href="/medgen/331297" ref="tree=GTR&ncbi_uid=331297&link_uid=331297" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 11'">Autosomal dominant nonsyndromic hearing loss 11</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832187[DISCUI]&test_type=Clinical" ref="ncbi_uid=321902">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=321902" target="_blank" href="/omim/601543">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=321902">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=321902" ref="ncbi_uid=321902">V</a></span></span><span class="TLline"><a href="/medgen/321902" ref="tree=GTR&ncbi_uid=321902&link_uid=321902" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 12'">Autosomal dominant nonsyndromic hearing loss 12</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866095[DISCUI]&test_type=Clinical" ref="ncbi_uid=400917">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400917" target="_blank" href="/omim/120290">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=400917">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=400917" ref="ncbi_uid=400917">V</a></span></span><span class="TLline"><a href="/medgen/400917" ref="tree=GTR&ncbi_uid=400917&link_uid=400917" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 13'">Autosomal dominant nonsyndromic hearing loss 13</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865366[DISCUI]&test_type=Clinical" ref="ncbi_uid=355451">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355451" target="_blank" href="/omim/602459">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=355451">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=355451" ref="ncbi_uid=355451">V</a></span></span><span class="TLline"><a href="/medgen/355451" ref="tree=GTR&ncbi_uid=355451&link_uid=355451" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 15'">Autosomal dominant nonsyndromic hearing loss 15</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=349054" target="_blank" href="/omim/603964">O</a></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=349054" ref="ncbi_uid=349054">V</a></span></span><span class="TLline"><a href="/medgen/349054" ref="tree=GTR&ncbi_uid=349054&link_uid=349054" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 16'">Autosomal dominant nonsyndromic hearing loss 16</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1863659[DISCUI]&test_type=Clinical" ref="ncbi_uid=350942">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350942" target="_blank" href="/omim/160775">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=350942">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=350942" ref="ncbi_uid=350942">V</a></span></span><span class="TLline"><a href="/medgen/350942" ref="tree=GTR&ncbi_uid=350942&link_uid=350942" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 17'">Autosomal dominant nonsyndromic hearing loss 17</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340051" target="_blank" href="/omim/606012">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/340051" ref="tree=GTR&ncbi_uid=340051&link_uid=340051" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 18'">Autosomal dominant nonsyndromic hearing loss 18</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1858172[DISCUI]&test_type=Clinical" ref="ncbi_uid=346852">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346852" target="_blank" href="/omim/102560">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=346852">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=346852" ref="ncbi_uid=346852">V</a></span></span><span class="TLline"><a href="/medgen/346852" ref="tree=GTR&ncbi_uid=346852&link_uid=346852" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 20'">Autosomal dominant nonsyndromic hearing loss 20</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846922[DISCUI]&test_type=Clinical" ref="ncbi_uid=339643">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339643" target="_blank" href="/omim/607017">O</a></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=339643" ref="ncbi_uid=339643">V</a></span></span><span class="TLline"><a href="/medgen/339643" ref="tree=GTR&ncbi_uid=339643&link_uid=339643" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 21'">Autosomal dominant nonsyndromic hearing loss 21</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931767[DISCUI]&test_type=Clinical" ref="ncbi_uid=419894">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419894" target="_blank" href="/omim/600970">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=419894">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419894" ref="ncbi_uid=419894">V</a></span></span><span class="TLline"><a href="/medgen/419894" ref="tree=GTR&ncbi_uid=419894&link_uid=419894" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 22'">Autosomal dominant nonsyndromic hearing loss 22</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1854594[DISCUI]&test_type=Clinical" ref="ncbi_uid=343162">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343162" target="_blank" href="/omim/601205">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=343162">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343162" ref="ncbi_uid=343162">V</a></span></span><span class="TLline"><a href="/medgen/343162" ref="tree=GTR&ncbi_uid=343162&link_uid=343162" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 23'">Autosomal dominant nonsyndromic hearing loss 23</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=377905" target="_blank" href="/omim/606282">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/377905" ref="tree=GTR&ncbi_uid=377905&link_uid=377905" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 24'">Autosomal dominant nonsyndromic hearing loss 24</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1854158[DISCUI]&test_type=Clinical" ref="ncbi_uid=344221">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=344221" target="_blank" href="/omim/605583">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=344221">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=344221" ref="ncbi_uid=344221">V</a></span></span><span class="TLline"><a href="/medgen/344221" ref="tree=GTR&ncbi_uid=344221&link_uid=344221" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 25'">Autosomal dominant nonsyndromic hearing loss 25</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3887929[DISCUI]&test_type=Clinical" ref="ncbi_uid=854637">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854637" target="_blank" href="/omim/600571">O</a></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=854637" ref="ncbi_uid=854637">V</a></span></span><span class="TLline"><a href="/medgen/854637" ref="tree=GTR&ncbi_uid=854637&link_uid=854637" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 27'">Autosomal dominant nonsyndromic hearing loss 27</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837640[DISCUI]&test_type=Clinical" ref="ncbi_uid=324846">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324846" target="_blank" href="/omim/608576">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=324846">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324846" ref="ncbi_uid=324846">V</a></span></span><span class="TLline"><a href="/medgen/324846" ref="tree=GTR&ncbi_uid=324846&link_uid=324846" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 28'">Autosomal dominant nonsyndromic hearing loss 28</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2677637[DISCUI]&test_type=Clinical" ref="ncbi_uid=436997">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436997" target="_blank" href="/omim/600101">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1209%20OR%20NBK1434)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=436997">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=436997" ref="ncbi_uid=436997">V</a></span></span><span class="TLline"><a href="/medgen/436997" ref="tree=GTR&ncbi_uid=436997&link_uid=436997" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 2A'">Autosomal dominant nonsyndromic hearing loss 2A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675236[DISCUI]&test_type=Clinical" ref="ncbi_uid=390742">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=390742" target="_blank" href="/omim/603324">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=390742">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=390742" ref="ncbi_uid=390742">V</a></span></span><span class="TLline"><a href="/medgen/390742" ref="tree=GTR&ncbi_uid=390742&link_uid=390742" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 2B'">Autosomal dominant nonsyndromic hearing loss 2B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341116" target="_blank" href="/omim/606451">O</a></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=341116" ref="ncbi_uid=341116">V</a></span></span><span class="TLline"><a href="/medgen/341116" ref="tree=GTR&ncbi_uid=341116&link_uid=341116" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 30'">Autosomal dominant nonsyndromic hearing loss 30</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325209" target="_blank" href="/omim/608645">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/325209" ref="tree=GTR&ncbi_uid=325209&link_uid=325209" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 31'">Autosomal dominant nonsyndromic hearing loss 31</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854638" target="_blank" href="/omim/614211">O</a></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=854638" ref="ncbi_uid=854638">V</a></span></span><span class="TLline"><a href="/medgen/854638" ref="tree=GTR&ncbi_uid=854638&link_uid=854638" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 33'">Autosomal dominant nonsyndromic hearing loss 33</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847626[DISCUI]&test_type=Clinical" ref="ncbi_uid=376173">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=376173" target="_blank" href="/omim/606705">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=376173">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=376173" ref="ncbi_uid=376173">V</a></span></span><span class="TLline"><a href="/medgen/376173" ref="tree=GTR&ncbi_uid=376173&link_uid=376173" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 36'">Autosomal dominant nonsyndromic hearing loss 36</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842371[DISCUI]&test_type=Clinical" ref="ncbi_uid=330834">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=330834" target="_blank" href="/omim/600844">O</a></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=330834" ref="ncbi_uid=330834">V</a></span></span><span class="TLline"><a href="/medgen/330834" ref="tree=GTR&ncbi_uid=330834&link_uid=330834" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 41'">Autosomal dominant nonsyndromic hearing loss 41</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=330769" target="_blank" href="/omim/608394">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/330769" ref="tree=GTR&ncbi_uid=330769&link_uid=330769" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 43'">Autosomal dominant nonsyndromic hearing loss 43</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1843895[DISCUI]&test_type=Clinical" ref="ncbi_uid=334525">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334525" target="_blank" href="/omim/607453">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=334525">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=334525" ref="ncbi_uid=334525">V</a></span></span><span class="TLline"><a href="/medgen/334525" ref="tree=GTR&ncbi_uid=334525&link_uid=334525" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 44'">Autosomal dominant nonsyndromic hearing loss 44</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324838" target="_blank" href="/omim/608652">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/324838" ref="tree=GTR&ncbi_uid=324838&link_uid=324838" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 47'">Autosomal dominant nonsyndromic hearing loss 47</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842939[DISCUI]&test_type=Clinical" ref="ncbi_uid=375052">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=375052" target="_blank" href="/omim/607841">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=375052">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=375052" ref="ncbi_uid=375052">V</a></span></span><span class="TLline"><a href="/medgen/375052" ref="tree=GTR&ncbi_uid=375052&link_uid=375052" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 48'">Autosomal dominant nonsyndromic hearing loss 48</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331222" target="_blank" href="/omim/608372">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/331222" ref="tree=GTR&ncbi_uid=331222&link_uid=331222" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 49'">Autosomal dominant nonsyndromic hearing loss 49</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1833503[DISCUI]&test_type=Clinical" ref="ncbi_uid=322209">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322209" target="_blank" href="/omim/600652">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=322209">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322209" ref="ncbi_uid=322209">V</a></span></span><span class="TLline"><a href="/medgen/322209" ref="tree=GTR&ncbi_uid=322209&link_uid=322209" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 4A'">Autosomal dominant nonsyndromic hearing loss 4A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3888123[DISCUI]&test_type=Clinical" ref="ncbi_uid=854780">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854780" target="_blank" href="/omim/611606">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=854780">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854780" ref="ncbi_uid=854780">V</a></span></span><span class="TLline"><a href="/medgen/854780" ref="tree=GTR&ncbi_uid=854780&link_uid=854780" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 50'">Autosomal dominant nonsyndromic hearing loss 50</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3160736[DISCUI]&test_type=Clinical" ref="ncbi_uid=463625">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=463625" target="_blank" href="/omim/613558">O</a></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=463625" ref="ncbi_uid=463625">V</a></span></span><span class="TLline"><a href="/medgen/463625" ref="tree=GTR&ncbi_uid=463625&link_uid=463625" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 51'">Autosomal dominant nonsyndromic hearing loss 51</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/334357" ref="tree=GTR&ncbi_uid=334357&link_uid=334357" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 52'">Autosomal dominant nonsyndromic hearing loss 52</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355336" target="_blank" href="/omim/609965">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355336" ref="tree=GTR&ncbi_uid=355336&link_uid=355336" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 53'">Autosomal dominant nonsyndromic hearing loss 53</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=390743" target="_blank" href="/omim/612642">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/390743" ref="tree=GTR&ncbi_uid=390743&link_uid=390743" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 59'">Autosomal dominant nonsyndromic hearing loss 59</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3279948[DISCUI]&test_type=Clinical" ref="ncbi_uid=481578">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481578" target="_blank" href="/omim/605219">O</a></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=481578" ref="ncbi_uid=481578">V</a></span></span><span class="TLline"><a href="/medgen/481578" ref="tree=GTR&ncbi_uid=481578&link_uid=481578" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 64'">Autosomal dominant nonsyndromic hearing loss 64</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN043650[DISCUI]&test_type=Clinical" ref="ncbi_uid=432739">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=432739" ref="ncbi_uid=432739">V</a></span></span><span class="TLline"><a href="/medgen/432739" ref="tree=GTR&ncbi_uid=432739&link_uid=432739" title="View MedGen record for 'Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive'">Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838701[DISCUI]&test_type=Clinical" ref="ncbi_uid=325485">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325485" target="_blank" href="/omim/276903">O</a></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=325485" ref="ncbi_uid=325485">V</a></span></span><span class="TLline"><a href="/medgen/325485" ref="tree=GTR&ncbi_uid=325485&link_uid=325485" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 2'">Autosomal recessive nonsyndromic hearing loss 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838263[DISCUI]&test_type=Clinical" ref="ncbi_uid=325373">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325373" target="_blank" href="/omim/600316">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=325373">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=325373" ref="ncbi_uid=325373">V</a></span></span><span class="TLline"><a href="/medgen/325373" ref="tree=GTR&ncbi_uid=325373&link_uid=325373" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 3'">Autosomal recessive nonsyndromic hearing loss 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3538946[DISCUI]&test_type=Clinical" ref="ncbi_uid=761234">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=761234" target="_blank" href="/omim/600791">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1434%20OR%20NBK1467)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=761234">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=761234" ref="ncbi_uid=761234">V</a></span></span><span class="TLline"><a href="/medgen/761234" ref="tree=GTR&ncbi_uid=761234&link_uid=761234" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 4'">Autosomal recessive nonsyndromic hearing loss 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331485" target="_blank" href="/omim/600792">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/331485" ref="tree=GTR&ncbi_uid=331485&link_uid=331485" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 5'">Autosomal recessive nonsyndromic hearing loss 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832992[DISCUI]&test_type=Clinical" ref="ncbi_uid=322088">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322088" target="_blank" href="/omim/600971">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=322088">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322088" ref="ncbi_uid=322088">V</a></span></span><span class="TLline"><a href="/medgen/322088" ref="tree=GTR&ncbi_uid=322088&link_uid=322088" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 6'">Autosomal recessive nonsyndromic hearing loss 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832978[DISCUI]&test_type=Clinical" ref="ncbi_uid=322084">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322084" target="_blank" href="/omim/600974">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=322084">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322084" ref="ncbi_uid=322084">V</a></span></span><span class="TLline"><a href="/medgen/322084" ref="tree=GTR&ncbi_uid=322084&link_uid=322084" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 7'">Autosomal recessive nonsyndromic hearing loss 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832827[DISCUI]&test_type=Clinical" ref="ncbi_uid=322046">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322046" target="_blank" href="/omim/601072">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=322046">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322046" ref="ncbi_uid=322046">V</a></span></span><span class="TLline"><a href="/medgen/322046" ref="tree=GTR&ncbi_uid=322046&link_uid=322046" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 8'">Autosomal recessive nonsyndromic hearing loss 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832828[DISCUI]&test_type=Clinical" ref="ncbi_uid=331376">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331376" target="_blank" href="/omim/601071">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1251%20OR%20NBK1434)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=331376">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=331376" ref="ncbi_uid=331376">V</a></span></span><span class="TLline"><a href="/medgen/331376" ref="tree=GTR&ncbi_uid=331376&link_uid=331376" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 9'">Autosomal recessive nonsyndromic hearing loss 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832394[DISCUI]&test_type=Clinical" ref="ncbi_uid=330455">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=330455" target="_blank" href="/omim/601386">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=330455">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=330455" ref="ncbi_uid=330455">V</a></span></span><span class="TLline"><a href="/medgen/330455" ref="tree=GTR&ncbi_uid=330455&link_uid=330455" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 12'">Autosomal recessive nonsyndromic hearing loss 12</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350361" target="_blank" href="/omim/603098">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/350361" ref="tree=GTR&ncbi_uid=350361&link_uid=350361" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 13'">Autosomal recessive nonsyndromic hearing loss 13</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350931" target="_blank" href="/omim/603678">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/350931" ref="tree=GTR&ncbi_uid=350931&link_uid=350931" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 14'">Autosomal recessive nonsyndromic hearing loss 14</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866094[DISCUI]&test_type=Clinical" ref="ncbi_uid=355626">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355626" target="_blank" href="/omim/601869">O</a></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=355626" ref="ncbi_uid=355626">V</a></span></span><span class="TLline"><a href="/medgen/355626" ref="tree=GTR&ncbi_uid=355626&link_uid=355626" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 15'">Autosomal recessive nonsyndromic hearing loss 15</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1863561[DISCUI]&test_type=Clinical" ref="ncbi_uid=350211">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350211" target="_blank" href="/omim/603720">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1434%20OR%20NBK598310)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=350211">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=350211" ref="ncbi_uid=350211">V</a></span></span><span class="TLline"><a href="/medgen/350211" ref="tree=GTR&ncbi_uid=350211&link_uid=350211" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 16'">Autosomal recessive nonsyndromic hearing loss 16</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355180" target="_blank" href="/omim/603010">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355180" ref="tree=GTR&ncbi_uid=355180&link_uid=355180" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 17'">Autosomal recessive nonsyndromic hearing loss 17</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865870[DISCUI]&test_type=Clinical" ref="ncbi_uid=356389">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356389" target="_blank" href="/omim/602092">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=356389">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=356389" ref="ncbi_uid=356389">V</a></span></span><span class="TLline"><a href="/medgen/356389" ref="tree=GTR&ncbi_uid=356389&link_uid=356389" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 18A'">Autosomal recessive nonsyndromic hearing loss 18A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2673759[DISCUI]&test_type=Clinical" ref="ncbi_uid=388720">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=388720" target="_blank" href="/omim/121011">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1272%20OR%20NBK1434)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=388720">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=388720" ref="ncbi_uid=388720">V</a></span></span><span class="TLline"><a href="/medgen/388720" ref="tree=GTR&ncbi_uid=388720&link_uid=388720" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 1A'">Autosomal recessive nonsyndromic hearing loss 1A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675235[DISCUI]&test_type=Clinical" ref="ncbi_uid=436381">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436381" target="_blank" href="/omim/604418">O</a></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=436381" ref="ncbi_uid=436381">V</a></span></span><span class="TLline"><a href="/medgen/436381" ref="tree=GTR&ncbi_uid=436381&link_uid=436381" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 1B'">Autosomal recessive nonsyndromic hearing loss 1B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347005" target="_blank" href="/omim/604060">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/347005" ref="tree=GTR&ncbi_uid=347005&link_uid=347005" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 20'">Autosomal recessive nonsyndromic hearing loss 20</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1863655[DISCUI]&test_type=Clinical" ref="ncbi_uid=355030">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355030" target="_blank" href="/omim/603629">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=355030">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=355030" ref="ncbi_uid=355030">V</a></span></span><span class="TLline"><a href="/medgen/355030" ref="tree=GTR&ncbi_uid=355030&link_uid=355030" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 21'">Autosomal recessive nonsyndromic hearing loss 21</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846896[DISCUI]&test_type=Clinical" ref="ncbi_uid=339636">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339636" target="_blank" href="/omim/607038">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=339636">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339636" ref="ncbi_uid=339636">V</a></span></span><span class="TLline"><a href="/medgen/339636" ref="tree=GTR&ncbi_uid=339636&link_uid=339636" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 22'">Autosomal recessive nonsyndromic hearing loss 22</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1836027[DISCUI]&test_type=Clinical" ref="ncbi_uid=332110">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=332110" target="_blank" href="/omim/605514">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=332110">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=332110" ref="ncbi_uid=332110">V</a></span></span><span class="TLline"><a href="/medgen/332110" ref="tree=GTR&ncbi_uid=332110&link_uid=332110" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 23'">Autosomal recessive nonsyndromic hearing loss 23</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1970239[DISCUI]&test_type=Clinical" ref="ncbi_uid=370208">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370208" target="_blank" href="/omim/179410">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=370208">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370208" ref="ncbi_uid=370208">V</a></span></span><span class="TLline"><a href="/medgen/370208" ref="tree=GTR&ncbi_uid=370208&link_uid=370208" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 24'">Autosomal recessive nonsyndromic hearing loss 24</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1414017[DISCUI]&test_type=Clinical" ref="ncbi_uid=237587">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=237587" target="_blank" href="/omim/613283">O</a></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=237587" ref="ncbi_uid=237587">V</a></span></span><span class="TLline"><a href="/medgen/237587" ref="tree=GTR&ncbi_uid=237587&link_uid=237587" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 25'">Autosomal recessive nonsyndromic hearing loss 25</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1854275[DISCUI]&test_type=Clinical" ref="ncbi_uid=340185">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340185" target="_blank" href="/omim/604439">O</a></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=340185" ref="ncbi_uid=340185">V</a></span></span><span class="TLline"><a href="/medgen/340185" ref="tree=GTR&ncbi_uid=340185&link_uid=340185" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 26'">Autosomal recessive nonsyndromic hearing loss 26</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=381303" target="_blank" href="/omim/605818">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/381303" ref="tree=GTR&ncbi_uid=381303&link_uid=381303" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 27'">Autosomal recessive nonsyndromic hearing loss 27</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853276[DISCUI]&test_type=Clinical" ref="ncbi_uid=342839">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=342839" target="_blank" href="/omim/609761">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=342839">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=342839" ref="ncbi_uid=342839">V</a></span></span><span class="TLline"><a href="/medgen/342839" ref="tree=GTR&ncbi_uid=342839&link_uid=342839" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 28'">Autosomal recessive nonsyndromic hearing loss 28</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3279660[DISCUI]&test_type=Clinical" ref="ncbi_uid=481290">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481290" target="_blank" href="/omim/605608">O</a></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=481290" ref="ncbi_uid=481290">V</a></span></span><span class="TLline"><a href="/medgen/481290" ref="tree=GTR&ncbi_uid=481290&link_uid=481290" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 29'">Autosomal recessive nonsyndromic hearing loss 29</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846784[DISCUI]&test_type=Clinical" ref="ncbi_uid=335521">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335521" target="_blank" href="/omim/606808">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=335521">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=335521" ref="ncbi_uid=335521">V</a></span></span><span class="TLline"><a href="/medgen/335521" ref="tree=GTR&ncbi_uid=335521&link_uid=335521" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 30'">Autosomal recessive nonsyndromic hearing loss 30</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846839[DISCUI]&test_type=Clinical" ref="ncbi_uid=339621">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339621" target="_blank" href="/omim/607084">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=339621">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339621" ref="ncbi_uid=339621">V</a></span></span><span class="TLline"><a href="/medgen/339621" ref="tree=GTR&ncbi_uid=339621&link_uid=339621" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 31'">Autosomal recessive nonsyndromic hearing loss 31</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837608[DISCUI]&test_type=Clinical" ref="ncbi_uid=373370">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=373370" target="_blank" href="/omim/603504">O</a></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=373370" ref="ncbi_uid=373370">V</a></span></span><span class="TLline"><a href="/medgen/373370" ref="tree=GTR&ncbi_uid=373370&link_uid=373370" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 32'">Autosomal recessive nonsyndromic hearing loss 32</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335464" target="_blank" href="/omim/607239">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/335464" ref="tree=GTR&ncbi_uid=335464&link_uid=335464" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 33'">Autosomal recessive nonsyndromic hearing loss 33</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837857[DISCUI]&test_type=Clinical" ref="ncbi_uid=324897">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324897" target="_blank" href="/omim/602167">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=324897">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324897" ref="ncbi_uid=324897">V</a></span></span><span class="TLline"><a href="/medgen/324897" ref="tree=GTR&ncbi_uid=324897&link_uid=324897" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 35'">Autosomal recessive nonsyndromic hearing loss 35</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837007[DISCUI]&test_type=Clinical" ref="ncbi_uid=324662">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324662" target="_blank" href="/omim/609006">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=324662">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324662" ref="ncbi_uid=324662">V</a></span></span><span class="TLline"><a href="/medgen/324662" ref="tree=GTR&ncbi_uid=324662&link_uid=324662" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 36'">Autosomal recessive nonsyndromic hearing loss 36</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1843028[DISCUI]&test_type=Clinical" ref="ncbi_uid=375076">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=375076" target="_blank" href="/omim/600970">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=375076">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=375076" ref="ncbi_uid=375076">V</a></span></span><span class="TLline"><a href="/medgen/375076" ref="tree=GTR&ncbi_uid=375076&link_uid=375076" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 37'">Autosomal recessive nonsyndromic hearing loss 37</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=330838" target="_blank" href="/omim/608219">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/330838" ref="tree=GTR&ncbi_uid=330838&link_uid=330838" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 38'">Autosomal recessive nonsyndromic hearing loss 38</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842342[DISCUI]&test_type=Clinical" ref="ncbi_uid=374909">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=374909" target="_blank" href="/omim/142409">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=374909">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=374909" ref="ncbi_uid=374909">V</a></span></span><span class="TLline"><a href="/medgen/374909" ref="tree=GTR&ncbi_uid=374909&link_uid=374909" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 39'">Autosomal recessive nonsyndromic hearing loss 39</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334053" target="_blank" href="/omim/608264">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/334053" ref="tree=GTR&ncbi_uid=334053&link_uid=334053" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 40'">Autosomal recessive nonsyndromic hearing loss 40</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864818[DISCUI]&test_type=Clinical" ref="ncbi_uid=351225">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=351225" target="_blank" href="/omim/609646">O</a></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=351225" ref="ncbi_uid=351225">V</a></span></span><span class="TLline"><a href="/medgen/351225" ref="tree=GTR&ncbi_uid=351225&link_uid=351225" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 42'">Autosomal recessive nonsyndromic hearing loss 42</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857809[DISCUI]&test_type=Clinical" ref="ncbi_uid=341854">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341854" target="_blank" href="/omim/103072">O</a></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=341854" ref="ncbi_uid=341854">V</a></span></span><span class="TLline"><a href="/medgen/341854" ref="tree=GTR&ncbi_uid=341854&link_uid=341854" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 44'">Autosomal recessive nonsyndromic hearing loss 44</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854732" target="_blank" href="/omim/612433">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/854732" ref="tree=GTR&ncbi_uid=854732&link_uid=854732" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 45'">Autosomal recessive nonsyndromic hearing loss 45</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355302" target="_blank" href="/omim/609647">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355302" ref="tree=GTR&ncbi_uid=355302&link_uid=355302" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 46'">Autosomal recessive nonsyndromic hearing loss 46</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355339" target="_blank" href="/omim/609946">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355339" ref="tree=GTR&ncbi_uid=355339&link_uid=355339" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 47'">Autosomal recessive nonsyndromic hearing loss 47</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1836199[DISCUI]&test_type=Clinical" ref="ncbi_uid=332149">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=332149" target="_blank" href="/omim/605564">O</a></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=332149" ref="ncbi_uid=332149">V</a></span></span><span class="TLline"><a href="/medgen/332149" ref="tree=GTR&ncbi_uid=332149&link_uid=332149" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 48'">Autosomal recessive nonsyndromic hearing loss 48</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857811[DISCUI]&test_type=Clinical" ref="ncbi_uid=346670">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346670" target="_blank" href="/omim/610153">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=346670">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=346670" ref="ncbi_uid=346670">V</a></span></span><span class="TLline"><a href="/medgen/346670" ref="tree=GTR&ncbi_uid=346670&link_uid=346670" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 49'">Autosomal recessive nonsyndromic hearing loss 49</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355880" target="_blank" href="/omim/609941">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355880" ref="tree=GTR&ncbi_uid=355880&link_uid=355880" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 51'">Autosomal recessive nonsyndromic hearing loss 51</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864746[DISCUI]&test_type=Clinical" ref="ncbi_uid=400602">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400602" target="_blank" href="/omim/120290">O</a></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=400602" ref="ncbi_uid=400602">V</a></span></span><span class="TLline"><a href="/medgen/400602" ref="tree=GTR&ncbi_uid=400602&link_uid=400602" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 53'">Autosomal recessive nonsyndromic hearing loss 53</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355338" target="_blank" href="/omim/609952">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355338" ref="tree=GTR&ncbi_uid=355338&link_uid=355338" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 55'">Autosomal recessive nonsyndromic hearing loss 55</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857744[DISCUI]&test_type=Clinical" ref="ncbi_uid=387899">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=387899" target="_blank" href="/omim/610219">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=387899">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=387899" ref="ncbi_uid=387899">V</a></span></span><span class="TLline"><a href="/medgen/387899" ref="tree=GTR&ncbi_uid=387899&link_uid=387899" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 59'">Autosomal recessive nonsyndromic hearing loss 59</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151230[DISCUI]&test_type=Clinical" ref="ncbi_uid=462580">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462580" target="_blank" href="/omim/604943">O</a></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=462580" ref="ncbi_uid=462580">V</a></span></span><span class="TLline"><a href="/medgen/462580" ref="tree=GTR&ncbi_uid=462580&link_uid=462580" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 61'">Autosomal recessive nonsyndromic hearing loss 61</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=387916" target="_blank" href="/omim/610143">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/387916" ref="tree=GTR&ncbi_uid=387916&link_uid=387916" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 62'">Autosomal recessive nonsyndromic hearing loss 62</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1969621[DISCUI]&test_type=Clinical" ref="ncbi_uid=409872">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=409872" target="_blank" href="/omim/611451">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=409872">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=409872" ref="ncbi_uid=409872">V</a></span></span><span class="TLline"><a href="/medgen/409872" ref="tree=GTR&ncbi_uid=409872&link_uid=409872" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 63'">Autosomal recessive nonsyndromic hearing loss 63</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=344004" target="_blank" href="/omim/610248">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/344004" ref="tree=GTR&ncbi_uid=344004&link_uid=344004" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 65'">Autosomal recessive nonsyndromic hearing loss 65</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857750[DISCUI]&test_type=Clinical" ref="ncbi_uid=346659">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346659" target="_blank" href="/omim/605755">O</a></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=346659" ref="ncbi_uid=346659">V</a></span></span><span class="TLline"><a href="/medgen/346659" ref="tree=GTR&ncbi_uid=346659&link_uid=346659" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 66'">Autosomal recessive nonsyndromic hearing loss 66</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853223[DISCUI]&test_type=Clinical" ref="ncbi_uid=343997">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343997" target="_blank" href="/omim/609427">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=343997">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343997" ref="ncbi_uid=343997">V</a></span></span><span class="TLline"><a href="/medgen/343997" ref="tree=GTR&ncbi_uid=343997&link_uid=343997" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 67'">Autosomal recessive nonsyndromic hearing loss 67</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1835854[DISCUI]&test_type=Clinical" ref="ncbi_uid=324374">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324374" target="_blank" href="/omim/605111">O</a></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=324374" ref="ncbi_uid=324374">V</a></span></span><span class="TLline"><a href="/medgen/324374" ref="tree=GTR&ncbi_uid=324374&link_uid=324374" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 68'">Autosomal recessive nonsyndromic hearing loss 68</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=411609" target="_blank" href="/omim/612789">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/411609" ref="tree=GTR&ncbi_uid=411609&link_uid=411609" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 71'">Autosomal recessive nonsyndromic hearing loss 71</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2239351[DISCUI]&test_type=Clinical" ref="ncbi_uid=453237">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=453237" target="_blank" href="/omim/613718">O</a></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=453237" ref="ncbi_uid=453237">V</a></span></span><span class="TLline"><a href="/medgen/453237" ref="tree=GTR&ncbi_uid=453237&link_uid=453237" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 74'">Autosomal recessive nonsyndromic hearing loss 74</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2746083[DISCUI]&test_type=Clinical" ref="ncbi_uid=412541">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=412541" target="_blank" href="/omim/613072">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=412541">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=412541" ref="ncbi_uid=412541">V</a></span></span><span class="TLline"><a href="/medgen/412541" ref="tree=GTR&ncbi_uid=412541&link_uid=412541" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 77'">Autosomal recessive nonsyndromic hearing loss 77</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750082[DISCUI]&test_type=Clinical" ref="ncbi_uid=413222">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413222" target="_blank" href="/omim/613307">O</a></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=413222" ref="ncbi_uid=413222">V</a></span></span><span class="TLline"><a href="/medgen/413222" ref="tree=GTR&ncbi_uid=413222&link_uid=413222" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 79'">Autosomal recessive nonsyndromic hearing loss 79</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854856" target="_blank" href="/omim/613685">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/854856" ref="tree=GTR&ncbi_uid=854856&link_uid=854856" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 83'">Autosomal recessive nonsyndromic hearing loss 83</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150654[DISCUI]&test_type=Clinical" ref="ncbi_uid=462004">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462004" target="_blank" href="/omim/603317">O</a></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=462004" ref="ncbi_uid=462004">V</a></span></span><span class="TLline"><a href="/medgen/462004" ref="tree=GTR&ncbi_uid=462004&link_uid=462004" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 84A'">Autosomal recessive nonsyndromic hearing loss 84A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=463629" target="_blank" href="/omim/613392">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/463629" ref="tree=GTR&ncbi_uid=463629&link_uid=463629" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 85'">Autosomal recessive nonsyndromic hearing loss 85</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151351[DISCUI]&test_type=Clinical" ref="ncbi_uid=462701">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462701" target="_blank" href="/omim/601421">O</a></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=462701" ref="ncbi_uid=462701">V</a></span></span><span class="TLline"><a href="/medgen/462701" ref="tree=GTR&ncbi_uid=462701&link_uid=462701" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 89'">Autosomal recessive nonsyndromic hearing loss 89</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150704[DISCUI]&test_type=Clinical" ref="ncbi_uid=462054">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462054" target="_blank" href="/omim/173321">O</a></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=462054" ref="ncbi_uid=462054">V</a></span></span><span class="TLline"><a href="/medgen/462054" ref="tree=GTR&ncbi_uid=462054&link_uid=462054" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 91'">Autosomal recessive nonsyndromic hearing loss 91</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854865" target="_blank" href="/omim/614414">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/854865" ref="tree=GTR&ncbi_uid=854865&link_uid=854865" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 96'">Autosomal recessive nonsyndromic hearing loss 96</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1858695[DISCUI]&test_type=Clinical" ref="ncbi_uid=347699">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347699" target="_blank" href="/omim/604213">O</a></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=347699" ref="ncbi_uid=347699">V</a></span></span><span class="TLline"><a href="/medgen/347699" ref="tree=GTR&ncbi_uid=347699&link_uid=347699" title="View MedGen record for 'Chudley-McCullough syndrome'">Chudley-McCullough syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4015888[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=864325">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=864325" target="_blank" href="/omim/108733">O</a></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=864325" ref="ncbi_uid=864325">V</a></span></span><span class="TLline"><a href="/medgen/864325" ref="tree=GTR&ncbi_uid=864325&link_uid=864325" title="View MedGen record for 'Deafness, autosomal recessive 12, modifier of'">Deafness, autosomal recessive 12, modifier of</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3808414[DISCUI]&test_type=Clinical" ref="ncbi_uid=814744">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=814744" target="_blank" href="/omim/601119">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK242617/" ref="ncbi_uid=814744">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=814744" ref="ncbi_uid=814744">V</a></span></span><span class="TLline"><a href="/medgen/814744" ref="tree=GTR&ncbi_uid=814744&link_uid=814744" title="View MedGen record for 'Perrault syndrome 3'">Perrault syndrome 3</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN043651[DISCUI]&test_type=Clinical" ref="ncbi_uid=432740">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=432740" ref="ncbi_uid=432740">V</a></span></span><span class="TLline"><a href="/medgen/432740" ref="tree=GTR&ncbi_uid=432740&link_uid=432740" title="View MedGen record for 'X-linked deafness'">X-linked deafness</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1844678[DISCUI]&test_type=Clinical" ref="ncbi_uid=336750">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=336750" target="_blank" href="/omim/300039">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=336750">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=336750" ref="ncbi_uid=336750">V</a></span></span><span class="TLline"><a href="/medgen/336750" ref="tree=GTR&ncbi_uid=336750&link_uid=336750" title="View MedGen record for 'X-linked mixed hearing loss with perilymphatic gusher'">X-linked mixed hearing loss with perilymphatic gusher</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0265253[DISCUI]&test_type=Clinical" ref="ncbi_uid=120521">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1302/" ref="ncbi_uid=120521">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=120521" ref="ncbi_uid=120521">V</a></span></span><span class="TLline"><a href="/medgen/120521" ref="tree=GTR&ncbi_uid=120521&link_uid=120521" title="View MedGen record for 'Stickler syndrome'">Stickler syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1848488[DISCUI]&test_type=Clinical" ref="ncbi_uid=341234">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341234" target="_blank" href="/omim/120290">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1302/" ref="ncbi_uid=341234">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=341234" ref="ncbi_uid=341234">V</a></span></span><span class="TLline"><a href="/medgen/341234" ref="tree=GTR&ncbi_uid=341234&link_uid=341234" title="View MedGen record for 'Otospondylomegaepiphyseal dysplasia, autosomal dominant'">Otospondylomegaepiphyseal dysplasia, autosomal dominant</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2020284[DISCUI]&test_type=Clinical" ref="ncbi_uid=810955">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=810955" target="_blank" href="/omim/108300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1302%20OR%20NBK540447)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=810955">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=810955" ref="ncbi_uid=810955">V</a></span></span><span class="TLline">Stickler syndrome type 1</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1858084[DISCUI]&test_type=Clinical" ref="ncbi_uid=347615">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347615" target="_blank" href="/omim/120280">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1302/" ref="ncbi_uid=347615">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=347615" ref="ncbi_uid=347615">V</a></span></span><span class="TLline"><a href="/medgen/347615" ref="tree=GTR&ncbi_uid=347615&link_uid=347615" title="View MedGen record for 'Stickler syndrome type 2'">Stickler syndrome type 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3279941[DISCUI]&test_type=Clinical" ref="ncbi_uid=481571">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481571" target="_blank" href="/omim/120210">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1302/" ref="ncbi_uid=481571">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481571" ref="ncbi_uid=481571">V</a></span></span><span class="TLline"><a href="/medgen/481571" ref="tree=GTR&ncbi_uid=481571&link_uid=481571" title="View MedGen record for 'Stickler syndrome, type 4'">Stickler syndrome, type 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280342[DISCUI]&test_type=Clinical" ref="ncbi_uid=481972">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481972" target="_blank" href="/omim/614284">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1302/" ref="ncbi_uid=481972">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481972" ref="ncbi_uid=481972">V</a></span></span><span class="TLline"><a href="/medgen/481972" ref="tree=GTR&ncbi_uid=481972&link_uid=481972" title="View MedGen record for 'Stickler syndrome, type 5'">Stickler syndrome, type 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5774207[DISCUI]&test_type=Clinical" ref="ncbi_uid=1823980">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1823980" target="_blank" href="/omim/120270">O</a></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=1823980" ref="ncbi_uid=1823980">V</a></span></span><span class="TLline"><a href="/medgen/1823980" ref="tree=GTR&ncbi_uid=1823980&link_uid=1823980" title="View MedGen record for 'Stickler syndrome, type 6'">Stickler syndrome, type 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1836080[DISCUI]&test_type=Clinical" ref="ncbi_uid=322820">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322820" target="_blank" href="/omim/120140">O</a></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=322820" ref="ncbi_uid=322820">V</a></span></span><span class="TLline"><a href="/medgen/322820" ref="tree=GTR&ncbi_uid=322820&link_uid=322820" title="View MedGen record for 'Stickler syndrome, type I, nonsyndromic ocular'">Stickler syndrome, type I, nonsyndromic ocular</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0271097[DISCUI]&test_type=Clinical" ref="ncbi_uid=78754">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78754" target="_blank" href="/omim/590085">O</a></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=78754" ref="ncbi_uid=78754">V</a></span></span><span class="TLline"><a href="/medgen/78754" ref="tree=GTR&ncbi_uid=78754&link_uid=78754" title="View MedGen record for 'Usher syndrome'">Usher syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1568247[DISCUI]&test_type=Clinical" ref="ncbi_uid=292820">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=292820" target="_blank" href="/omim/276900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=292820">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=292820" ref="ncbi_uid=292820">V</a></span></span><span class="TLline"><a href="/medgen/292820" ref="tree=GTR&ncbi_uid=292820&link_uid=292820" title="View MedGen record for 'Usher syndrome type 1'">Usher syndrome type 1</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931206[DISCUI]&test_type=Clinical" ref="ncbi_uid=419358">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=419358" ref="ncbi_uid=419358">V</a></span></span><span class="TLline"><a href="/medgen/419358" ref="tree=GTR&ncbi_uid=419358&link_uid=419358" title="View MedGen record for 'Usher syndrome type 1B'">Usher syndrome type 1B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1848604[DISCUI]&test_type=Clinical" ref="ncbi_uid=338506">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=338506" target="_blank" href="/omim/276904">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=338506">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=338506" ref="ncbi_uid=338506">V</a></span></span><span class="TLline"><a href="/medgen/338506" ref="tree=GTR&ncbi_uid=338506&link_uid=338506" title="View MedGen record for 'Usher syndrome type 1C'">Usher syndrome type 1C</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832845[DISCUI]&test_type=Clinical" ref="ncbi_uid=322051">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322051" target="_blank" href="/omim/601067">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=322051">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322051" ref="ncbi_uid=322051">V</a></span></span><span class="TLline"><a href="/medgen/322051" ref="tree=GTR&ncbi_uid=322051&link_uid=322051" title="View MedGen record for 'Usher syndrome type 1D'">Usher syndrome type 1D</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865865[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=400865">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400865" target="_blank" href="/omim/602097">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=400865">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/400865" ref="tree=GTR&ncbi_uid=400865&link_uid=400865" title="View MedGen record for 'Usher syndrome type 1E'">Usher syndrome type 1E</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865885[DISCUI]&test_type=Clinical" ref="ncbi_uid=356393">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356393" target="_blank" href="/omim/602083">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=356393">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=356393" ref="ncbi_uid=356393">V</a></span></span><span class="TLline"><a href="/medgen/356393" ref="tree=GTR&ncbi_uid=356393&link_uid=356393" title="View MedGen record for 'Usher syndrome type 1F'">Usher syndrome type 1F</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847089[DISCUI]&test_type=Clinical" ref="ncbi_uid=339683">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339683" target="_blank" href="/omim/606943">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=339683">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339683" ref="ncbi_uid=339683">V</a></span></span><span class="TLline"><a href="/medgen/339683" ref="tree=GTR&ncbi_uid=339683&link_uid=339683" title="View MedGen record for 'Usher syndrome type 1G'">Usher syndrome type 1G</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675458[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=393392">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=393392" target="_blank" href="/omim/612632">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=393392">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/393392" ref="tree=GTR&ncbi_uid=393392&link_uid=393392" title="View MedGen record for 'Usher syndrome type 1H'">Usher syndrome type 1H</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0339534[DISCUI]&test_type=Clinical" ref="ncbi_uid=83288">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1341/" ref="ncbi_uid=83288">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=83288" ref="ncbi_uid=83288">V</a></span></span><span class="TLline"><a href="/medgen/83288" ref="tree=GTR&ncbi_uid=83288&link_uid=83288" title="View MedGen record for 'Usher syndrome type 2'">Usher syndrome type 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1568248[DISCUI]&test_type=Clinical" ref="ncbi_uid=339336">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=339336" ref="ncbi_uid=339336">V</a></span></span><span class="TLline"><a href="/medgen/339336" ref="tree=GTR&ncbi_uid=339336&link_uid=339336" title="View MedGen record for 'Usher syndrome type 3'">Usher syndrome type 3</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5779850[DISCUI]&test_type=Clinical" ref="ncbi_uid=1830415">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1830415" target="_blank" href="/omim/276902">O</a></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=1830415" ref="ncbi_uid=1830415">V</a></span></span><span class="TLline"><a href="/medgen/1830415" ref="tree=GTR&ncbi_uid=1830415&link_uid=1830415" title="View MedGen record for 'Usher syndrome type 3A'">Usher syndrome type 3A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3281066[DISCUI]&test_type=Clinical" ref="ncbi_uid=482696">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=482696" target="_blank" href="/omim/142810">O</a></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=482696" ref="ncbi_uid=482696">V</a></span></span><span class="TLline"><a href="/medgen/482696" ref="tree=GTR&ncbi_uid=482696&link_uid=482696" title="View MedGen record for 'Usher syndrome type 3B'">Usher syndrome type 3B</a></span></li></ul></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847800[DISCUI]&test_type=Clinical" ref="ncbi_uid=376211">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=376211" target="_blank" href="/omim/193500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1531/" ref="ncbi_uid=376211">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=376211" ref="ncbi_uid=376211">V</a></span></span><span class="TLline"><a href="/medgen/376211" ref="tree=GTR&ncbi_uid=376211&link_uid=376211" title="View MedGen record for 'Waardenburg syndrome type 1'">Waardenburg syndrome type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2700265[DISCUI]&test_type=Clinical" ref="ncbi_uid=398443">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=398443" ref="ncbi_uid=398443">V</a></span></span><span class="TLline"><a href="/medgen/398443" ref="tree=GTR&ncbi_uid=398443&link_uid=398443" title="View MedGen record for 'Waardenburg syndrome type 2'">Waardenburg syndrome type 2</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1860339[DISCUI]&test_type=Clinical" ref="ncbi_uid=349786">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=349786" target="_blank" href="/omim/156845">O</a></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=349786" ref="ncbi_uid=349786">V</a></span></span><span class="TLline"><a href="/medgen/349786" ref="tree=GTR&ncbi_uid=349786&link_uid=349786" title="View MedGen record for 'Waardenburg syndrome type 2A'">Waardenburg syndrome type 2A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838447[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=373973">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=373973" target="_blank" href="/omim/600193">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/373973" ref="tree=GTR&ncbi_uid=373973&link_uid=373973" title="View MedGen record for 'Waardenburg syndrome type 2B'">Waardenburg syndrome type 2B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847722[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=335755">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335755" target="_blank" href="/omim/606662">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/335755" ref="tree=GTR&ncbi_uid=335755&link_uid=335755" title="View MedGen record for 'Waardenburg syndrome type 2C'">Waardenburg syndrome type 2C</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837203[DISCUI]&test_type=Clinical" ref="ncbi_uid=323102">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=323102" ref="ncbi_uid=323102">V</a></span></span><span class="TLline"><a href="/medgen/323102" ref="tree=GTR&ncbi_uid=323102&link_uid=323102" title="View MedGen record for 'Waardenburg syndrome type 2D'">Waardenburg syndrome type 2D</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2700405[DISCUI]&test_type=Clinical" ref="ncbi_uid=398476">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=398476" target="_blank" href="/omim/611584">O</a></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=398476" ref="ncbi_uid=398476">V</a></span></span><span class="TLline"><a href="/medgen/398476" ref="tree=GTR&ncbi_uid=398476&link_uid=398476" title="View MedGen record for 'Waardenburg syndrome type 2E'">Waardenburg syndrome type 2E</a></span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/432988" ref="tree=GTR&ncbi_uid=432988&link_uid=432988" title="View MedGen record for 'Waardenburg syndrome type 2E, with neurologic involvement'">Waardenburg syndrome type 2E, with neurologic involvement</a></span></li><li class="TLclosed"><span class="TLline"><a href="/medgen/432987" ref="tree=GTR&ncbi_uid=432987&link_uid=432987" title="View MedGen record for 'Waardenburg syndrome type 2E, without neurologic involvement'">Waardenburg syndrome type 2E, without neurologic involvement</a></span></li></ul></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0079661[DISCUI]&test_type=Clinical" ref="ncbi_uid=86948">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=86948" target="_blank" href="/omim/148820">O</a></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=86948" ref="ncbi_uid=86948">V</a></span></span><span class="TLline"><a href="/medgen/86948" ref="tree=GTR&ncbi_uid=86948&link_uid=86948" title="View MedGen record for 'Waardenburg syndrome type 3'">Waardenburg syndrome type 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1848519[DISCUI]&test_type=Clinical" ref="ncbi_uid=341244">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1848519[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=341244">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341244" target="_blank" href="/omim/131244">O</a></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=341244" ref="ncbi_uid=341244">V</a></span></span><span class="TLline"><a href="/medgen/341244" ref="tree=GTR&ncbi_uid=341244&link_uid=341244" title="View MedGen record for 'Waardenburg syndrome type 4A'">Waardenburg syndrome type 4A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750457[DISCUI]&test_type=Clinical" ref="ncbi_uid=412961">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C2750457[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=412961">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=412961" target="_blank" href="/omim/131242">O</a></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=412961" ref="ncbi_uid=412961">V</a></span></span><span class="TLline"><a href="/medgen/412961" ref="tree=GTR&ncbi_uid=412961&link_uid=412961" title="View MedGen record for 'Waardenburg syndrome type 4B'">Waardenburg syndrome type 4B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750452[DISCUI]&test_type=Clinical" ref="ncbi_uid=413310">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C2750452[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=413310">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413310" target="_blank" href="/omim/602229">O</a></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=413310" ref="ncbi_uid=413310">V</a></span></span><span class="TLline"><a href="/medgen/413310" ref="tree=GTR&ncbi_uid=413310&link_uid=413310" title="View MedGen record for 'Waardenburg syndrome type 4C'">Waardenburg syndrome type 4C</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843132" ref="tree=MeSH" title="MedGen record for Musculoskeletal disease with cataract">Musculoskeletal disease with cataract</a></span><ul><li><span class="matched_ds">Stickler syndrome type 1</span></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
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|
||
<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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/20179744">Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoornaert KP,
|
||
Vereecke I,
|
||
Dewinter C,
|
||
Rosenberg T,
|
||
Beemer FA,
|
||
Leroy JG,
|
||
Bendix L,
|
||
Björck E,
|
||
Bonduelle M,
|
||
Boute O,
|
||
Cormier-Daire V,
|
||
De Die-Smulders C,
|
||
Dieux-Coeslier A,
|
||
Dollfus H,
|
||
Elting M,
|
||
Green A,
|
||
Guerci VI,
|
||
Hennekam RC,
|
||
Hilhorts-Hofstee Y,
|
||
Holder M,
|
||
Hoyng C,
|
||
Jones KJ,
|
||
Josifova D,
|
||
Kaitila I,
|
||
Kjaergaard S,
|
||
Kroes YH,
|
||
Lagerstedt K,
|
||
Lees M,
|
||
Lemerrer M,
|
||
Magnani C,
|
||
Marcelis C,
|
||
Martorell L,
|
||
Mathieu M,
|
||
McEntagart M,
|
||
Mendicino A,
|
||
Morton J,
|
||
Orazio G,
|
||
Paquis V,
|
||
Reish O,
|
||
Simola KO,
|
||
Smithson SF,
|
||
Temple KI,
|
||
Van Aken E,
|
||
Van Bever Y,
|
||
van den Ende J,
|
||
Van Hagen JM,
|
||
Zelante L,
|
||
Zordania R,
|
||
De Paepe A,
|
||
Leroy BP,
|
||
De Buyzere M,
|
||
Coucke PJ,
|
||
Mortier GR</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2010 Aug;18(8):872-80.
|
||
Epub 2010 Feb 24
|
||
doi: 10.1038/ejhg.2010.23.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20179744" target="_blank">20179744</a><a href="/pmc/articles/PMC2987380" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16752401">High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Richards AJ,
|
||
Laidlaw M,
|
||
Whittaker J,
|
||
Treacy B,
|
||
Rai H,
|
||
Bearcroft P,
|
||
Baguley DM,
|
||
Poulson A,
|
||
Ang A,
|
||
Scott JD,
|
||
Snead MP</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2006 Jul;27(7):696-704.
|
||
doi: 10.1002/humu.20347.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16752401" target="_blank">16752401</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10706362">Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Freddi S,
|
||
Savarirayan R,
|
||
Bateman JF</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
2000 Feb 28;90(5):398-406.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10706362" target="_blank">10706362</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22stickler%20syndrome%20type%201%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 (3)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38512645">Utilization of Anti-obesity Medications After Bariatric Surgery: Analysis of a Large National Database.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Firkins SA,
|
||
Chittajallu V,
|
||
Flora B,
|
||
Yoo H,
|
||
Simons-Linares R</span><br />
|
||
<span class="medgenPMjournal">Obes Surg</span>
|
||
2024 May;34(5):1415-1424.
|
||
Epub 2024 Mar 21
|
||
doi: 10.1007/s11695-024-07181-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38512645" target="_blank">38512645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35885933">Prevention of Blindness in Stickler Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alexander P,
|
||
Snead MP</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2022 Jun 26;13(7)
|
||
doi: 10.3390/genes13071150.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35885933" target="_blank">35885933</a><a href="/pmc/articles/PMC9318672" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35741851">Dominant Stickler Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Soh Z,
|
||
Richards AJ,
|
||
McNinch A,
|
||
Alexander P,
|
||
Martin H,
|
||
Snead MP</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2022 Jun 18;13(6)
|
||
doi: 10.3390/genes13061089.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35741851" target="_blank">35741851</a><a href="/pmc/articles/PMC9222743" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32039712">Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang DD,
|
||
Gao FJ,
|
||
Hu FY,
|
||
Zhang SH,
|
||
Xu P,
|
||
Wu JH</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2020 Feb 10;21(1):27.
|
||
doi: 10.1186/s12881-020-0963-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32039712" target="_blank">32039712</a><a href="/pmc/articles/PMC7008542" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21921955">Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Snead MP,
|
||
McNinch AM,
|
||
Poulson AV,
|
||
Bearcroft P,
|
||
Silverman B,
|
||
Gomersall P,
|
||
Parfect V,
|
||
Richards AJ</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2011 Nov;25(11):1389-400.
|
||
Epub 2011 Sep 16
|
||
doi: 10.1038/eye.2011.201.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21921955" target="_blank">21921955</a><a href="/pmc/articles/PMC3213659" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stickler%20syndrome%20type%201%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (66)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36450637">Sudden Refusal to Walk in a Child with Stickler Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barrette LX,
|
||
Silverman BL,
|
||
Lee C,
|
||
Van Pelt AL</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
2022 Dec 1;43(12):724-727.
|
||
doi: 10.1542/pir.2021-004997.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36450637" target="_blank">36450637</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35241111">Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rad A,
|
||
Najafi M,
|
||
Suri F,
|
||
Abedini S,
|
||
Loum S,
|
||
Karimiani EG,
|
||
Daftarian N,
|
||
Murphy D,
|
||
Doosti M,
|
||
Moghaddasi A,
|
||
Ahmadieh H,
|
||
Sabbaghi H,
|
||
Rajati M,
|
||
Hashemi N,
|
||
Vona B,
|
||
Schmidts M</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Mar 3;17(1):97.
|
||
doi: 10.1186/s13023-022-02244-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35241111" target="_blank">35241111</a><a href="/pmc/articles/PMC8892745" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34524400">Hypoplasic Vitreous in Stickler Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ortiz-Salvador M,
|
||
Montero-Hernández J,
|
||
Freiría-Barreiro R</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2021 Sep 1;139(9):e213312.
|
||
Epub 2021 Sep 15
|
||
doi: 10.1001/jamaophthalmol.2021.3312.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34524400" target="_blank">34524400</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32897902">Distinguishing Marshall from Stickler syndrome: a clinical and genetic challenge.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Janssen EJM,
|
||
Stegmann APA,
|
||
Stumpel CTRM</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2021 Jan;30(1):58-61.
|
||
doi: 10.1097/MCD.0000000000000346.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32897902" target="_blank">32897902</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26458481">Stickler syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rishi P,
|
||
Maheshwari A,
|
||
Rishi E</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2015 Jul;63(7):614-5.
|
||
doi: 10.4103/0301-4738.167114.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26458481" target="_blank">26458481</a><a href="/pmc/articles/PMC4652254" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stickler%20syndrome%20type%201%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (105)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38512645">Utilization of Anti-obesity Medications After Bariatric Surgery: Analysis of a Large National Database.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Firkins SA,
|
||
Chittajallu V,
|
||
Flora B,
|
||
Yoo H,
|
||
Simons-Linares R</span><br />
|
||
<span class="medgenPMjournal">Obes Surg</span>
|
||
2024 May;34(5):1415-1424.
|
||
Epub 2024 Mar 21
|
||
doi: 10.1007/s11695-024-07181-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38512645" target="_blank">38512645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38358525">Outcomes of rhegmatogenous retinal detachment surgery in patients with Stickler syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corcóstegui I,
|
||
Subirás J,
|
||
Corcóstegui B</span><br />
|
||
<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
||
2024 Jul;262(7):2093-2099.
|
||
Epub 2024 Feb 15
|
||
doi: 10.1007/s00417-024-06406-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38358525" target="_blank">38358525</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32316871">Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boysen KB,
|
||
La Cour M,
|
||
Kessel L</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2020 Jun;41(3):223-234.
|
||
Epub 2020 Apr 21
|
||
doi: 10.1080/13816810.2020.1747092.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32316871" target="_blank">32316871</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30130436">Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wubben TJ,
|
||
Branham KH,
|
||
Besirli CG,
|
||
Bohnsack BL</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2018 Oct;39(5):615-618.
|
||
Epub 2018 Aug 21
|
||
doi: 10.1080/13816810.2018.1509355.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30130436" target="_blank">30130436</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21466760">The clinical effectiveness and safety of prophylactic retinal interventions to reduce the risk of retinal detachment and subsequent vision loss in adults and children with Stickler syndrome: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carroll C,
|
||
Papaioannou D,
|
||
Rees A,
|
||
Kaltenthaler E</span><br />
|
||
<span class="medgenPMjournal">Health Technol Assess</span>
|
||
2011 Apr;15(16):iii-xiv, 1-62.
|
||
doi: 10.3310/hta15160.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21466760" target="_blank">21466760</a><a href="/pmc/articles/PMC4781556" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stickler%20syndrome%20type%201%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (8)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38243264">Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang Y,
|
||
Xiao X,
|
||
Sun W,
|
||
Wang Y,
|
||
Li S,
|
||
Jia X,
|
||
Wang P,
|
||
Hejtmancik JF,
|
||
Zhang Q</span><br />
|
||
<span class="medgenPMjournal">J Transl Med</span>
|
||
2024 Jan 19;22(1):75.
|
||
doi: 10.1186/s12967-024-04886-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38243264" target="_blank">38243264</a><a href="/pmc/articles/PMC10797748" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35473494">Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Asano M,
|
||
Yokoyama K,
|
||
Oku K,
|
||
Matsushita I,
|
||
Kimoto K,
|
||
Kubota T,
|
||
Kondo H</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2022 Aug;43(4):508-512.
|
||
Epub 2022 Apr 26
|
||
doi: 10.1080/13816810.2022.2068044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35473494" target="_blank">35473494</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31856005">Stickler Syndrome: Airway Complications in a Case Series of 502 Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zimmermann J,
|
||
Stubbs DJ,
|
||
Richards AJ,
|
||
Alexander P,
|
||
McNinch AM,
|
||
Matta B,
|
||
Snead MP</span><br />
|
||
<span class="medgenPMjournal">Anesth Analg</span>
|
||
2021 Jan;132(1):202-209.
|
||
doi: 10.1213/ANE.0000000000004582.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31856005" target="_blank">31856005</a><a href="/pmc/articles/PMC7717475" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32039712">Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang DD,
|
||
Gao FJ,
|
||
Hu FY,
|
||
Zhang SH,
|
||
Xu P,
|
||
Wu JH</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2020 Feb 10;21(1):27.
|
||
doi: 10.1186/s12881-020-0963-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32039712" target="_blank">32039712</a><a href="/pmc/articles/PMC7008542" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31340433">LOXL3 Function Beyond Amino Oxidase and Role in Pathologies, Including Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laurentino TS,
|
||
Soares RDS,
|
||
Marie SKN,
|
||
Oba-Shinjo SM</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2019 Jul 23;20(14)
|
||
doi: 10.3390/ijms20143587.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31340433" target="_blank">31340433</a><a href="/pmc/articles/PMC6678131" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stickler%20syndrome%20type%201%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (33)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38243264">Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang Y,
|
||
Xiao X,
|
||
Sun W,
|
||
Wang Y,
|
||
Li S,
|
||
Jia X,
|
||
Wang P,
|
||
Hejtmancik JF,
|
||
Zhang Q</span><br />
|
||
<span class="medgenPMjournal">J Transl Med</span>
|
||
2024 Jan 19;22(1):75.
|
||
doi: 10.1186/s12967-024-04886-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38243264" target="_blank">38243264</a><a href="/pmc/articles/PMC10797748" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36882306">Legg-Calve-Perthes' disease: an opportunity to prevent blindness?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang A,
|
||
Nixon T,
|
||
Martin H,
|
||
Richards A,
|
||
McNinch A,
|
||
Alexander P,
|
||
Pujari R,
|
||
Bale P,
|
||
Shenker N,
|
||
Bearcroft P,
|
||
Brown S,
|
||
Blackwell A,
|
||
Poulson A,
|
||
Snead M</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2023 Oct;108(10):789-791.
|
||
Epub 2023 Mar 7
|
||
doi: 10.1136/archdischild-2022-325059.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36882306" target="_blank">36882306</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35473494">Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Asano M,
|
||
Yokoyama K,
|
||
Oku K,
|
||
Matsushita I,
|
||
Kimoto K,
|
||
Kubota T,
|
||
Kondo H</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2022 Aug;43(4):508-512.
|
||
Epub 2022 Apr 26
|
||
doi: 10.1080/13816810.2022.2068044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35473494" target="_blank">35473494</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31856005">Stickler Syndrome: Airway Complications in a Case Series of 502 Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zimmermann J,
|
||
Stubbs DJ,
|
||
Richards AJ,
|
||
Alexander P,
|
||
McNinch AM,
|
||
Matta B,
|
||
Snead MP</span><br />
|
||
<span class="medgenPMjournal">Anesth Analg</span>
|
||
2021 Jan;132(1):202-209.
|
||
doi: 10.1213/ANE.0000000000004582.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31856005" target="_blank">31856005</a><a href="/pmc/articles/PMC7717475" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32039712">Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang DD,
|
||
Gao FJ,
|
||
Hu FY,
|
||
Zhang SH,
|
||
Xu P,
|
||
Wu JH</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2020 Feb 10;21(1):27.
|
||
doi: 10.1186/s12881-020-0963-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32039712" target="_blank">32039712</a><a href="/pmc/articles/PMC7008542" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stickler%20syndrome%20type%201%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (32)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/32316871">Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boysen KB,
|
||
La Cour M,
|
||
Kessel L</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2020 Jun;41(3):223-234.
|
||
Epub 2020 Apr 21
|
||
doi: 10.1080/13816810.2020.1747092.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32316871" target="_blank">32316871</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32039712">Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang DD,
|
||
Gao FJ,
|
||
Hu FY,
|
||
Zhang SH,
|
||
Xu P,
|
||
Wu JH</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2020 Feb 10;21(1):27.
|
||
doi: 10.1186/s12881-020-0963-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32039712" target="_blank">32039712</a><a href="/pmc/articles/PMC7008542" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23110709">Hearing impairment in Stickler syndrome: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Acke FR,
|
||
Dhooge IJ,
|
||
Malfait F,
|
||
De Leenheer EM</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2012 Oct 30;7:84.
|
||
doi: 10.1186/1750-1172-7-84.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23110709" target="_blank">23110709</a><a href="/pmc/articles/PMC3551705" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21466760">The clinical effectiveness and safety of prophylactic retinal interventions to reduce the risk of retinal detachment and subsequent vision loss in adults and children with Stickler syndrome: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carroll C,
|
||
Papaioannou D,
|
||
Rees A,
|
||
Kaltenthaler E</span><br />
|
||
<span class="medgenPMjournal">Health Technol Assess</span>
|
||
2011 Apr;15(16):iii-xiv, 1-62.
|
||
doi: 10.3310/hta15160.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21466760" target="_blank">21466760</a><a href="/pmc/articles/PMC4781556" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stickler%20syndrome%20type%201%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2020284%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (62)</a></li>
|
||
<li><a href="/gtr/tests?term=C2020284%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C2020284%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (73)</a></li>
|
||
<li><a href="/gtr/tests?term=C2020284%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (21)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2020284%5bDISCUI%5d" target="_blank">See all (88)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=108300" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=90653" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Stickler%20syndrome%20type%201" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22stickler%20syndrome%20type%201%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></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=120140" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1280[geneid]" target="_blank">View COL2A1 variations in ClinVar</a></li><li><a href="/nuccore/193083158" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=108300" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Stickler+syndrome+type+1/6878" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/stickler_syndrome_type_i" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Stickler%20syndrome%20type%201" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/stickler-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/5018/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301479" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/31021589" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Stickler%20syndrome%20type%201" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=4" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Stickler%20syndrome%20type%201%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=4&linkpostotal=4" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=810955" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=810955" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2020284[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2020284[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=810955" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=810955" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=810955" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=810955" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
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