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<a href="/entry/113500?search=113500%20156530%20168400%20181405%20184095%20184252%20600175%20605427%20606071%20606835%20606845%20617383&highlight=113500%2C156530%2C168400%2C181405%2C184095%2C184252%2C600175%2C605427%2C606071%2C617383">
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
113500.
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BRACHYOLMIA TYPE 3; BCYM3
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Cytogenetic location:
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12q24.11</a></span>
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Inheritance
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12q24.11
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Brachyolmia type 3
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<a href="/entry/113500"> 113500 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
TRPV4
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605427"> 605427 </a>
</span>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimPhenotypeMapFold_1" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimLinksFold_1" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=113500[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12241&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://clinicaltrials.gov/search?cond=BRACHYOLMIA TYPE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12241&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/books/NBK201366/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></dd>
<dd><a href="https://www.diseaseinfosearch.org/x/944" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=113500[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93304" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></dd>
<dd><a href="https://www.possumcore.com/nuxeo/nxdoc/default/2723c0d6-9055-4d0e-a032-2241d1e03121/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://omia.org/OMIA000319/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimLinksFold_1" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimDisorderCodesFold_1" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>SNOMEDCT: 717264003</dd>
<dd>ORPHA: 93304</dd>
<dd>DO: 0050690</dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimDisorderCodesFold_1" data-toggle="collapse">▲ Close</a>
</div>
</div>
</div>
</div>
<div class="row">
<p />
</div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
2:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/605427?search=113500%20156530%20168400%20181405%20184095%20184252%20600175%20605427%20606071%20606835%20606845%20617383&highlight=113500%2C156530%2C168400%2C181405%2C184095%2C184252%2C600175%2C605427%2C606071%2C617383">
<span class="mim-tip-hint" title="Gene description">
<span class="text-danger"><strong>*</strong></span>
605427.
</span>
TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4; TRPV4
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793">
12q24.11</a></span>,
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font"><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:109783087-109833398&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">12:109,783,087-109,833,398</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">605427</span></span>
<br />
<a href="#mimGeneMapFold_2" id="mimGeneMapToggle_2" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimGeneMapToggleTriangle_2" class="mimSingletonToggleTriangle" style="color: DarkOrchid">►</span> Gene-Phenotype Relationships</span></a>
<a href="#mimDisorderCodesFold_2" id="mimDisorderCodesToggle_2" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_2" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
<a href="#mimLinksFold_2" id="mimLinksToggle_2" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_2" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
<div id="mimGeneMapFold_2" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-bordered table-condensed small mim-table-padding">
<caption>
Gene-Phenotype Relationships
</caption>
<thead>
<tr>
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
</tr>
</thead>
<tbody>
<tr>
<td rowspan="11">
<span class="mim-font">
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793">
12q24.11
</a>
</span>
</td>
<td>
<span class="mim-font">
?Avascular necrosis of femoral head, primary, 2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617383"> 617383 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
[Sodium serum level QTL 1]
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613508"> 613508 </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Brachyolmia type 3
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/113500"> 113500 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Digital arthropathy-brachydactyly, familial
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606835"> 606835 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Hereditary motor and sensory neuropathy, type IIc
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606071"> 606071 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Metatropic dysplasia
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/156530"> 156530 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Neuronopathy, distal hereditary motor, autosomal dominant 8
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600175"> 600175 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Parastremmatic dwarfism
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/168400"> 168400 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Scapuloperoneal spinal muscular atrophy
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/181405"> 181405 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
SED, Maroteaux type
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/184095"> 184095 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Spondylometaphyseal dysplasia, Kozlowski type
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/184252"> 184252 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimGeneMapFold_2" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimLinksFold_2" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=605427[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Genome</dt>
<dd><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000111199;t=ENST00000261740" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=59341" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></dd>
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=605427" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></dd>
</dl>
</td>
<td>
<dl>
<dt>DNA</dt>
<dd><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000111199;t=ENST00000261740" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001177428,NM_001177431,NM_001177433,NM_021625,NM_147204,XM_011538630,XM_011538631,XM_011538632,XM_011538633,XM_011538634,XM_011538635,XM_017019774,XM_047429293,XM_047429294,XM_047429295,XM_047429296" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_021625" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></dd>
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=605427" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Protein</dt>
<dd><a href="https://hprd.org/summary?hprd_id=05667&isoform_id=05667_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></dd>
<dd><a href="https://www.proteinatlas.org/search/TRPV4" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/protein/10304081,11055322,14582398,15822825,15986275,17894661,22035739,22036052,22547180,22547184,27877102,62901470,70609366,70609368,70609370,109659096,119618284,119618285,219517787,294459965,294459971,294459977,767975026,1034580996,1034580998,1034581000,1034581002,1034581004,1034581006,2217290362,2217290365,2217290368,2217290371,2462533512,2462533514,2462533516,2462533518,2462533520,2462533522,2462533524,2462533526,2462533528,2462533530,2462533532" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></dd>
<dd><a href="https://www.uniprot.org/uniprotkb/Q9HBA0" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Gene Info</dt>
<dd><a href="http://biogps.org/#goto=genereport&id=59341" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></dd>
<dd><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000111199;t=ENST00000261740" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></dd>
<dd><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPV4" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></dd>
<dd><a href="http://amigo.geneontology.org/amigo/search/annotation?q=TRPV4" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></dd>
<dd><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+59341" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></dd>
<dd><a href="http://v1.marrvel.org/search/gene/TRPV4" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
<dd><a href="https://monarchinitiative.org/NCBIGene:59341" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gene/59341" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></dd>
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr12&hgg_gene=ENST00000261740.7&hgg_start=109783087&hgg_end=109833398&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://search.clinicalgenome.org/kb/genes/HGNC:18083" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=605427[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Variation</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=605427[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></dd>
<dd><a href="https://www.deciphergenomics.org/gene/TRPV4/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></dd>
<dd><a href="https://gnomad.broadinstitute.org/gene/ENSG00000111199" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></dd>
<dd><a href="https://www.ebi.ac.uk/gwas/search?query=TRPV4" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></dd>
<dd><a href="https://www.gwascentral.org/search?q=TRPV4" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></dd>
<dd><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=TRPV4" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></dd>
<dd><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=TRPV4&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></dd>
<dd><a href="https://www.pharmgkb.org/gene/PA38293" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/gene/HGNC:18083" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
<dd><a href="https://flybase.org/reports/FBgn0036414.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></dd>
<dd><a href="https://www.mousephenotype.org/data/genes/MGI:1926945" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></dd>
<dd><a href="http://v1.marrvel.org/search/gene/TRPV4#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
<dd><a href="http://www.informatics.jax.org/marker/MGI:1926945" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></dd>
<dd><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=MGI:1926945" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gene/59341/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></dd>
<dd><a href="https://omia.org/OMIA000319/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></dd>
<dd><a href="https://www.orthodb.org/?ncbi=59341" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></dd>
Wormbase Gene</dd>
<dd style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00003839;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00003839 </a></dd><dd style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00003841;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00003841 </a></dd><dd style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00003889;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00003889 </a></dd>
<dd><a href="https://zfin.org/ZDB-GENE-030912-7" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Cellular Pathways</dt>
<dd><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:59341" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></dd>
<dd><a href="https://reactome.org/content/query?q=TRPV4&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></dd>
</dl>
</td>
</tr>
</tbody>
</table>
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<div id="mimDisorderCodesFold_2" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>SNOMEDCT: 111304003, 22764001, 230248006, 717010007, 717264003, 719204007, 722210007, 763067000</dd>
<dd>ICD10CM: G12.1</dd>
</dl>
</td>
</tr>
</tbody>
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<div class="row">
<p />
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<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
3:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/606071?search=113500%20156530%20168400%20181405%20184095%20184252%20600175%20605427%20606071%20606835%20606845%20617383&highlight=113500%2C156530%2C168400%2C181405%2C184095%2C184252%2C600175%2C605427%2C606071%2C617383">
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
606071.
</span>
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC; HMSN2C
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793">
12q24.11</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">606071</span></span>
<br />
<a href="#mimPhenotypeMapFold_3" id="mimPhenotypeMapToggle_3" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_3" class="mimPingletonToggleTriangle" style="color: DarkOrchid">►</span> Phenotype-Gene Relationships</span></a>
<a href="#mimPhenotypicSeriesFold_3" id="mimPhenotypicSeriesToggle_3" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'PhenotypicSeries'})"><span class="small"><span id="mimPhenotypicSeriesToggleTriangle_3" class="mimSingletonToggleTriangle" style="color: #47B7D9">►</span> Phenotypic Series</span></a>
<a href="#mimDisorderCodesFold_3" id="mimDisorderCodesToggle_3" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_3" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
<a href="#mimLinksFold_3" id="mimLinksToggle_3" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_3" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
<div id="mimPhenotypeMapFold_3" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-bordered table-condensed small mim-table-padding">
<caption>
Phenotype-Gene Relationships
</caption>
<thead>
<tr>
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793">
12q24.11
</a>
</span>
</td>
<td>
<span class="mim-font">
Hereditary motor and sensory neuropathy, type IIc
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606071"> 606071 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
TRPV4
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605427"> 605427 </a>
</span>
</td>
</tr>
</tbody>
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<a href="#mimPhenotypeMapFold_3" data-toggle="collapse">▲ Close</a>
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<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Charcot-Marie-Tooth disease
- <a href="/phenotypicSeries/PS118220">PS118220</a>
- 82 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/100?start=-3&limit=10&highlight=100"> 1p36.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615376"> Charcot-Marie-Tooth disease, recessive intermediate C </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615376"> 615376 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611101"> PLEKHG5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611101"> 611101 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/135?start=-3&limit=10&highlight=135"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118210"> Charcot-Marie-Tooth disease, type 2A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118210"> 118210 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605995"> KIF1B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605995"> 605995 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/163?start=-3&limit=10&highlight=163"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609260"> Charcot-Marie-Tooth disease, axonal, type 2A2A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609260"> 609260 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608507"> MFN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608507"> 608507 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/163?start=-3&limit=10&highlight=163"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601152"> Hereditary motor and sensory neuropathy VIA </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601152"> 601152 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608507"> MFN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608507"> 608507 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/163?start=-3&limit=10&highlight=163"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617087"> Charcot-Marie-Tooth disease, axonal, type 2A2B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617087"> 617087 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608507"> MFN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608507"> 608507 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/406?start=-3&limit=10&highlight=406"> 1p35.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608323"> Charcot-Marie-Tooth disease, dominant intermediate C </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608323"> 608323 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603623"> YARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603623"> 603623 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/954?start=-3&limit=10&highlight=954"> 1p13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618036"> Charcot-Marie-Tooth disease, axonal, type 2DD </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618036"> 618036 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182310"> ATP1A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182310"> 182310 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1240?start=-3&limit=10&highlight=1240"> 1q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605588"> Charcot-Marie-Tooth disease, type 2B1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605588"> 605588 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150330"> LMNA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150330"> 150330 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1292?start=-3&limit=10&highlight=1292"> 1q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619519"> Charcot-Marie-Tooth disease, axonal, type 2FF </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619519"> 619519 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609743"> CADM3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609743"> 609743 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348"> 1q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> Dejerine-Sottas disease </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> 145900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> MPZ </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> 159440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348"> 1q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607677"> Charcot-Marie-Tooth disease, type 2I </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607677"> 607677 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> MPZ </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> 159440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348"> 1q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118200"> Charcot-Marie-Tooth disease, type 1B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118200"> 118200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> MPZ </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> 159440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348"> 1q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607791"> Charcot-Marie-Tooth disease, dominant intermediate D </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607791"> 607791 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> MPZ </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> 159440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348"> 1q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607736"> Charcot-Marie-Tooth disease, type 2J </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607736"> 607736 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> MPZ </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> 159440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/131?start=-3&limit=10&highlight=131"> 2p23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618400"> Charcot-Marie-Tooth disease, axonal, type 2EE </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618400"> 618400 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137960"> MPV17 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137960"> 137960 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/654?start=-3&limit=10&highlight=654"> 3q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600882"> Charcot-Marie-Tooth disease, type 2B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600882"> 600882 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602298"> RAB7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602298"> 602298 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/798?start=-3&limit=10&highlight=798"> 3q25.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617017"> Charcot-Marie-Tooth disease, axonal, type 2T </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617017"> 617017 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120520"> MME </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120520"> 120520 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/880?start=-3&limit=10&highlight=880"> 3q26.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615185"> Charcot-Marie-Tooth disease, dominant intermediate F </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615185"> 615185 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610863"> GNB4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610863"> 610863 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/611?start=-3&limit=10&highlight=611"> 4q31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615490"> Charcot-Marie-Tooth disease, type 2R </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615490"> 615490 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614141"> TRIM2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614141"> 614141 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/544?start=-3&limit=10&highlight=544"> 5q31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616625"> Charcot-Marie-Tooth disease, axonal, type 2W </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616625"> 616625 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142810"> HARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142810"> 142810 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/646?start=-3&limit=10&highlight=646"> 5q32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601596"> Charcot-Marie-Tooth disease, type 4C </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601596"> 601596 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608206"> SH3TC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608206"> 608206 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/405?start=-3&limit=10&highlight=405"> 6p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620111"> Charcot-Marie-Tooth disease, demyelinating, type 1J </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620111"> 620111 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147267"> ITPR3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147267"> 147267 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/769?start=-3&limit=10&highlight=769"> 6q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611228"> Charcot-Marie-Tooth disease, type 4J </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611228"> 611228 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609390"> FIG4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609390"> 609390 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/165?start=-3&limit=10&highlight=165"> 7p14.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601472"> Charcot-Marie-Tooth disease, type 2D </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601472"> 601472 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600287"> GARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600287"> 600287 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/355?start=-3&limit=10&highlight=355"> 7q11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606595"> Charcot-Marie-Tooth disease, axonal, type 2F </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606595"> 606595 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602195"> HSPB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602195"> 602195 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/137?start=-3&limit=10&highlight=137"> 8p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607684"> Charcot-Marie-Tooth disease, type 2E </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607684"> 607684 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162280"> NEFL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162280"> 162280 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/137?start=-3&limit=10&highlight=137"> 8p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607734"> Charcot-Marie-Tooth disease, type 1F </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607734"> 607734 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162280"> NEFL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162280"> 162280 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/137?start=-3&limit=10&highlight=137"> 8p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617882"> Charcot-Marie-Tooth disease, dominant intermediate G </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617882"> 617882 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162280"> NEFL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162280"> 162280 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/304?start=-3&limit=10&highlight=304"> 8q13-q23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607731"> Charcot-Marie-Tooth disease, axonal, type 2H </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607731"> 607731 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607731"> CMT2H </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607731"> 607731 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/350?start=-3&limit=10&highlight=350"> 8q21.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607831"> {?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K, modifier of} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607831"> 607831 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605266"> JPH1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605266"> 605266 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/351?start=-3&limit=10&highlight=351"> 8q21.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607831"> Charcot-Marie-Tooth disease, axonal, type 2K </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607831"> 607831 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> GDAP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> 606598 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/351?start=-3&limit=10&highlight=351"> 8q21.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/214400"> Charcot-Marie-Tooth disease, type 4A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/214400"> 214400 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> GDAP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> 606598 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/351?start=-3&limit=10&highlight=351"> 8q21.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608340"> Charcot-Marie-Tooth disease, recessive intermediate, A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608340"> 608340 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> GDAP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> 606598 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/351?start=-3&limit=10&highlight=351"> 8q21.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607706"> Charcot-Marie-Tooth disease, axonal, with vocal cord paresis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607706"> 607706 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> GDAP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> 606598 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/366?start=-3&limit=10&highlight=366"> 8q21.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618279"> Charcot-Marie-Tooth disease, demyelinating, type 1G </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618279"> 618279 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/170715"> PMP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/170715"> 170715 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/570?start=-3&limit=10&highlight=570"> 8q24.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601455"> Charcot-Marie-Tooth disease, type 4D </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601455"> 601455 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605262"> NDRG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605262"> 605262 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/160?start=-3&limit=10&highlight=160"> 9p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616687"> Charcot-Marie-Tooth disease, type 2Y </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616687"> 616687 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601023"> VCP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601023"> 601023 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/512?start=-3&limit=10&highlight=512"> 9q33.3-q34.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614436"> Charcot-Marie-Tooth disease, axonal, type 2P </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614436"> 614436 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610933"> LRSAM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610933"> 610933 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/612?start=-3&limit=10&highlight=612"> 9q34.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616684"> Charcot-Marie-Tooth disease, type 4K </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616684"> 616684 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/185620"> SURF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/185620"> 185620 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/53?start=-3&limit=10&highlight=53"> 10p14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615025"> ?Charcot-Marie-Tooth disease, axonal, type 2Q </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615025"> 615025 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614984"> DHTKD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614984"> 614984 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/230?start=-3&limit=10&highlight=230"> 10q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605253"> Hypomyelinating neuropathy, congenital, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605253"> 605253 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129010"> EGR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129010"> 129010 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/230?start=-3&limit=10&highlight=230"> 10q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607678"> Charcot-Marie-Tooth disease, type 1D </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607678"> 607678 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129010"> EGR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129010"> 129010 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/230?start=-3&limit=10&highlight=230"> 10q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> Dejerine-Sottas disease </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> 145900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129010"> EGR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129010"> 129010 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/260?start=-3&limit=10&highlight=260"> 10q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605285"> Neuropathy, hereditary motor and sensory, Russe type </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605285"> 605285 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142600"> HK1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142600"> 142600 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/513?start=-3&limit=10&highlight=513"> 10q24.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606483"> Charcot-Marie-Tooth disease, axonal, type 2GG </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606483"> 606483 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603698"> GBF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603698"> 603698 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/613?start=-3&limit=10&highlight=613"> 10q26.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621095"> Charcot-Marie-Tooth disease, axonal, type 2JJ </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621095"> 621095 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603883"> BAG3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603883"> 603883 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/171?start=-3&limit=10&highlight=171"> 11p15.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604563"> Charcot-Marie-Tooth disease, type 4B2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604563"> 604563 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607697"> SBF2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607697"> 607697 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/690?start=-3&limit=10&highlight=690"> 11q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616155"> Charcot-Marie-Tooth disease, axonal, type 2S </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616155"> 616155 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600502"> IGHMBP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600502"> 600502 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/849?start=-3&limit=10&highlight=849"> 11q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601382"> Charcot-Marie-Tooth disease, type 4B1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601382"> 601382 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603557"> MTMR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603557"> 603557 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/278?start=-3&limit=10&highlight=278"> 12p11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609311"> Charcot-Marie-Tooth disease, type 4H </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609311"> 609311 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611104"> FGD4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611104"> 611104 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/542?start=-3&limit=10&highlight=542"> 12q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616280"> Charcot-Marie-Tooth disease, axonal, type 2U </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616280"> 616280 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/156560"> MARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/156560"> 156560 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/757?start=-3&limit=10&highlight=757"> 12q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619742"> Charcot-Marie-Tooth disease, demyelinating, type 1I </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619742"> 619742 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614366"> POLR3B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614366"> 614366 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793"> 12q24.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606071"> Hereditary motor and sensory neuropathy, type IIc </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606071"> 606071 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605427"> TRPV4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605427"> 605427 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/858?start=-3&limit=10&highlight=858"> 12q24.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608673"> Charcot-Marie-Tooth disease, axonal, type 2L </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608673"> 608673 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608014"> HSPB8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608014"> 608014 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/873?start=-3&limit=10&highlight=873"> 12q24.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616039"> Charcot-Marie-Tooth disease, recessive intermediate D </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616039"> 616039 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602072"> COX6A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602072"> 602072 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/464?start=-3&limit=10&highlight=464"> 14q32.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619764"> Charcot-Marie-Tooth disease, demyelinating, type 1H </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619764"> 619764 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604580"> FBLN5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604580"> 604580 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/559?start=-3&limit=10&highlight=559"> 14q32.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614228"> Charcot-Marie-Tooth disease, axonal, type 2O </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614228"> 614228 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600112"> DYNC1H1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600112"> 600112 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/590?start=-3&limit=10&highlight=590"> 14q32.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614455"> Charcot-Marie-Tooth disease, dominant intermediate E </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614455"> 614455 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610982"> INF2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610982"> 610982 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/71?start=-3&limit=10&highlight=71"> 15q14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620068"> Charcot-Marie-Tooth disease, axonal, type 2II </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620068"> 620068 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604878"> SLC12A6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604878"> 604878 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/168?start=-3&limit=10&highlight=168"> 15q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616668"> Charcot-Marie-Tooth disease, axonal, type 2X </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616668"> 616668 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610844"> SPG11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610844"> 610844 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/195?start=-3&limit=10&highlight=195"> 16p13.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601098"> Charcot-Marie-Tooth disease, type 1C </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601098"> 601098 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603795"> LITAF </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603795"> 603795 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/603?start=-3&limit=10&highlight=603"> 16q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613287"> Charcot-Marie-Tooth disease, axonal, type 2N </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613287"> 613287 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601065"> AARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601065"> 601065 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/655?start=-3&limit=10&highlight=655"> 16q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613641"> ?Charcot-Marie-Tooth disease, recessive intermediate, B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613641"> 613641 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601421"> KARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601421"> 601421 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/244?start=-3&limit=10&highlight=244"> 17p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118220"> Charcot-Marie-Tooth disease, type 1A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118220"> 118220 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601097"> PMP22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601097"> 601097 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/244?start=-3&limit=10&highlight=244"> 17p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> Dejerine-Sottas disease </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> 145900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601097"> PMP22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601097"> 601097 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/244?start=-3&limit=10&highlight=244"> 17p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118300"> Charcot-Marie-Tooth disease, type 1E </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118300"> 118300 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601097"> PMP22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601097"> 601097 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/579?start=-3&limit=10&highlight=579"> 17q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616491"> ?Charcot-Marie-Tooth disease, axonal, type 2V </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616491"> 616491 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609701"> NAGLU </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609701"> 609701 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/281?start=-3&limit=10&highlight=281"> 19p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606482"> Charcot-Marie-Tooth disease, dominant intermediate B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606482"> 606482 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602378"> DNM2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602378"> 602378 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/281?start=-3&limit=10&highlight=281"> 19p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606482"> Charcot-Marie-Tooth disease, axonal type 2M </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606482"> 606482 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602378"> DNM2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602378"> 602378 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/702?start=-3&limit=10&highlight=702"> 19q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614895"> Charcot-Marie-Tooth disease, type 4F </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614895"> 614895 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605725"> PRX </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605725"> 605725 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/702?start=-3&limit=10&highlight=702"> 19q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> Dejerine-Sottas disease </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> 145900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605725"> PRX </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605725"> 605725 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/967?start=-3&limit=10&highlight=967"> 19q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605589"> ?Charcot-Marie-Tooth disease, type 2B2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605589"> 605589 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605610"> PNKP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605610"> 605610 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/99?start=-3&limit=10&highlight=99"> 20p12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619574"> Charcot-Marie-Tooth disease, axonal, type 2HH </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619574"> 619574 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601920"> JAG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601920"> 601920 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/152?start=-3&limit=10&highlight=152"> 22q12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616924"> Charcot-Marie-Tooth disease, axonal, type 2CC </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616924"> 616924 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162230"> NEFH </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162230"> 162230 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/177?start=-3&limit=10&highlight=177"> 22q12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616688"> Charcot-Marie-Tooth disease, axonal, type 2Z </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616688"> 616688 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616661"> MORC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616661"> 616661 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/412?start=-3&limit=10&highlight=412"> 22q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615284"> Charcot-Marie-Tooth disease, type 4B3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615284"> 615284 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603560"> SBF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603560"> 603560 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/47?start=-3&limit=10&highlight=47"> Xp22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302801"> Charcot-Marie-Tooth neuropathy, X-linked recessive, 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302801"> 302801 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302801"> CMTX2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302801"> 302801 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/126?start=-3&limit=10&highlight=126"> Xp22.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300905"> ?Charcot-Marie-Tooth disease, X-linked dominant, 6 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300905"> 300905 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300906"> PDK3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300906"> 300906 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/406?start=-3&limit=10&highlight=406"> Xq13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302800"> Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302800"> 302800 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/304040"> GJB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/304040"> 304040 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/552?start=-3&limit=10&highlight=552"> Xq22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/311070"> Charcot-Marie-Tooth disease, X-linked recessive, 5 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/311070"> 311070 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/311850"> PRPS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/311850"> 311850 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/662?start=-3&limit=10&highlight=662"> Xq26 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302802"> Charcot-Marie-Tooth neuropathy, X-linked recessive, 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved"> 4 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302802"> 302802 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302802"> CMTX3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302802"> 302802 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/675?start=-3&limit=10&highlight=675"> Xq26.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/310490"> Cowchock syndrome </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/310490"> 310490 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300169"> AIFM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300169"> 300169 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold_3" data-toggle="collapse">▲ Close</a>
</div>
</div>
</div>
<div id="mimLinksFold_3" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=606071[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=14510&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://clinicaltrials.gov/search?cond=HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=14510&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
<dd>Gene Reviews</dd>
<dd style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1358/" title="Charcot-Marie-Tooth Hereditary Neuropathy Overview" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Charcot-Marie-Tooth Heredi…</a></dd><dd style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK201366/" title="Autosomal Dominant TRPV4 Disorders" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Autosomal Dominant TRPV4 D…</a></dd>
<dd><a href="https://www.diseaseinfosearch.org/x/1294" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=606071[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99937" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/disease/DOID:0110182" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
<dd><a href="http://www.informatics.jax.org/disease/606071" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></dd>
<dd><a href="https://omia.org/OMIA000319/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></dd>
<dd><a href="https://wormbase.org/resources/disease/DOID:0110182" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimLinksFold_3" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimDisorderCodesFold_3" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>SNOMEDCT: 717010007</dd>
<dd>ORPHA: 99937</dd>
<dd>DO: 0110182</dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimDisorderCodesFold_3" data-toggle="collapse">▲ Close</a>
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</div>
</div>
<div class="row">
<p />
</div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
4:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/617383?search=113500%20156530%20168400%20181405%20184095%20184252%20600175%20605427%20606071%20606835%20606845%20617383&highlight=113500%2C156530%2C168400%2C181405%2C184095%2C184252%2C600175%2C605427%2C606071%2C617383">
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
617383.
</span>
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793">
12q24.11</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">617383</span></span>
<br />
<a href="#mimPhenotypeMapFold_4" id="mimPhenotypeMapToggle_4" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_4" class="mimPingletonToggleTriangle" style="color: DarkOrchid">►</span> Phenotype-Gene Relationships</span></a>
<a href="#mimPhenotypicSeriesFold_4" id="mimPhenotypicSeriesToggle_4" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'PhenotypicSeries'})"><span class="small"><span id="mimPhenotypicSeriesToggleTriangle_4" class="mimSingletonToggleTriangle" style="color: #47B7D9">►</span> Phenotypic Series</span></a>
<a href="#mimDisorderCodesFold_4" id="mimDisorderCodesToggle_4" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_4" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
<a href="#mimLinksFold_4" id="mimLinksToggle_4" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_4" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
<div id="mimPhenotypeMapFold_4" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-bordered table-condensed small mim-table-padding">
<caption>
Phenotype-Gene Relationships
</caption>
<thead>
<tr>
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793">
12q24.11
</a>
</span>
</td>
<td>
<span class="mim-font">
?Avascular necrosis of femoral head, primary, 2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617383"> 617383 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
TRPV4
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605427"> 605427 </a>
</span>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimPhenotypeMapFold_4" data-toggle="collapse">▲ Close</a>
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</div>
<div id="mimPhenotypicSeriesFold_4" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Avascular necrosis of femoral head, primary
- <a href="/phenotypicSeries/PS608805">PS608805</a>
- 2 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/325?start=-3&limit=10&highlight=325"> 12q13.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608805"> Avascular necrosis of the femoral head </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608805"> 608805 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120140"> COL2A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120140"> 120140 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793"> 12q24.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617383"> ?Avascular necrosis of femoral head, primary, 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617383"> 617383 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605427"> TRPV4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605427"> 605427 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
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<a href="#mimPhenotypicSeriesFold_4" data-toggle="collapse">▲ Close</a>
</div>
</div>
</div>
<div id="mimLinksFold_4" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=617383[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11740&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://clinicaltrials.gov/search?cond=AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11740&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/books/NBK201366/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=617383[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86820" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://omia.org/OMIA000319/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></dd>
</dl>
</td>
</tr>
</tbody>
</table>
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<a href="#mimLinksFold_4" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimDisorderCodesFold_4" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>ORPHA: 86820</dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimDisorderCodesFold_4" data-toggle="collapse">▲ Close</a>
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<div class="row">
<p />
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<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
5:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/156530?search=113500%20156530%20168400%20181405%20184095%20184252%20600175%20605427%20606071%20606835%20606845%20617383&highlight=113500%2C156530%2C168400%2C181405%2C184095%2C184252%2C600175%2C605427%2C606071%2C617383">
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
156530.
</span>
METATROPIC DYSPLASIA; MTD
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793">
12q24.11</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">156530</span></span>
<br />
<a href="#mimPhenotypeMapFold_5" id="mimPhenotypeMapToggle_5" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_5" class="mimPingletonToggleTriangle" style="color: DarkOrchid">►</span> Phenotype-Gene Relationships</span></a>
<a href="#mimDisorderCodesFold_5" id="mimDisorderCodesToggle_5" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_5" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
<a href="#mimLinksFold_5" id="mimLinksToggle_5" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_5" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
<div id="mimPhenotypeMapFold_5" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-bordered table-condensed small mim-table-padding">
<caption>
Phenotype-Gene Relationships
</caption>
<thead>
<tr>
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793">
12q24.11
</a>
</span>
</td>
<td>
<span class="mim-font">
Metatropic dysplasia
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/156530"> 156530 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
TRPV4
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605427"> 605427 </a>
</span>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimPhenotypeMapFold_5" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimLinksFold_5" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=156530[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=546&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://clinicaltrials.gov/search?cond=METATROPIC DYSPLASIA" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=546&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/books/NBK201366/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></dd>
<dd><a href="https://www.diseaseinfosearch.org/x/8861" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></dd>
<dd><a href="https://medlineplus.gov/genetics/condition/metatropic-dysplasia" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=156530[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2635" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></dd>
<dd><a href="https://www.possumcore.com/nuxeo/nxdoc/default/937242e1-d423-4a0f-9186-5621b4ada27e/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/disease/DOID:0111514" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
<dd><a href="http://www.informatics.jax.org/disease/156530" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></dd>
<dd><a href="https://omia.org/OMIA000319/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></dd>
<dd><a href="https://wormbase.org/resources/disease/DOID:0111514" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimLinksFold_5" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimDisorderCodesFold_5" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>SNOMEDCT: 22764001</dd>
<dd>ORPHA: 2635</dd>
<dd>DO: 0111514</dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimDisorderCodesFold_5" data-toggle="collapse">▲ Close</a>
</div>
</div>
</div>
</div>
<div class="row">
<p />
</div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
6:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/600175?search=113500%20156530%20168400%20181405%20184095%20184252%20600175%20605427%20606071%20606835%20606845%20617383&highlight=113500%2C156530%2C168400%2C181405%2C184095%2C184252%2C600175%2C605427%2C606071%2C617383">
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
600175.
</span>
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 8; HMND8
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793">
12q24.11</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">600175</span></span>
<br />
<a href="#mimPhenotypeMapFold_6" id="mimPhenotypeMapToggle_6" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_6" class="mimPingletonToggleTriangle" style="color: DarkOrchid">►</span> Phenotype-Gene Relationships</span></a>
<a href="#mimPhenotypicSeriesFold_6" id="mimPhenotypicSeriesToggle_6" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'PhenotypicSeries'})"><span class="small"><span id="mimPhenotypicSeriesToggleTriangle_6" class="mimSingletonToggleTriangle" style="color: #47B7D9">►</span> Phenotypic Series</span></a>
<a href="#mimDisorderCodesFold_6" id="mimDisorderCodesToggle_6" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_6" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
<a href="#mimLinksFold_6" id="mimLinksToggle_6" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_6" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
<div id="mimPhenotypeMapFold_6" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-bordered table-condensed small mim-table-padding">
<caption>
Phenotype-Gene Relationships
</caption>
<thead>
<tr>
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793">
12q24.11
</a>
</span>
</td>
<td>
<span class="mim-font">
Neuronopathy, distal hereditary motor, autosomal dominant 8
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600175"> 600175 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
TRPV4
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605427"> 605427 </a>
</span>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimPhenotypeMapFold_6" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimPhenotypicSeriesFold_6" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Neuronopathy, distal hereditary motor, autosomal dominant
- <a href="/phenotypicSeries/PS182960">PS182960</a>
- 15 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/118?start=-3&limit=10&highlight=118"> 2p23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620080"> Neuronopathy, distal hereditary motor, autosomal dominant 10 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620080"> 620080 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/130660"> EMILIN1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/130660"> 130660 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/377?start=-3&limit=10&highlight=377"> 2p13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607641"> Neuronopathy, distal hereditary motor, autosomal dominant 14 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607641"> 607641 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601143"> DCTN1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601143"> 601143 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/441?start=-3&limit=10&highlight=441"> 2p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614751"> ?Neuronopathy, distal hereditary motor, autosomal dominant 12 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614751"> 614751 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609139"> REEP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609139"> 609139 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/542?start=-3&limit=10&highlight=542"> 2q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/158580"> Neuronopathy, distal hereditary motor, autosomal dominant 7 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/158580"> 158580 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608761"> SLC5A7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608761"> 608761 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/160?start=-3&limit=10&highlight=160"> 5q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613376"> ?Neuronopathy, distal hereditary motor, autosomal dominant 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613376"> 613376 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604624"> HSPB3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604624"> 604624 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/643?start=-3&limit=10&highlight=643"> 5q32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615575"> Neuronopathy, distal hereditary motor, autosomal dominant 6 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615575"> 615575 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608533"> FBXO38 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608533"> 608533 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/165?start=-3&limit=10&highlight=165"> 7p14.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600794"> Neuronopathy, distal hereditary motor, autosomal dominant 5 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600794"> 600794 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600287"> GARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600287"> 600287 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/355?start=-3&limit=10&highlight=355"> 7q11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608634"> Neuronopathy, distal hereditary motor, autosomal dominant 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608634"> 608634 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602195"> HSPB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602195"> 602195 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/722?start=-3&limit=10&highlight=722"> 7q34-q36 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182960"> Neuronopathy, distal hereditary motor, autosomal dominant 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved"> 4 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182960"> 182960 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182960"> HMND1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182960"> 182960 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/548?start=-3&limit=10&highlight=548"> 9q34.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620528"> Neuronopathy, distal hereditary motor, autosomal dominant 11 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620528"> 620528 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182810"> SPTAN1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182810"> 182810 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/613?start=-3&limit=10&highlight=613"> 10q26.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621094"> ?Neuronopathy, distal hereditary motor, autosomal dominant 15 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621094"> 621094 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603883"> BAG3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603883"> 603883 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/489?start=-3&limit=10&highlight=489"> 11q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619112"> Neuronopathy, distal hereditary motor, autosomal dominant 13 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619112"> 619112 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606158"> BSCL2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606158"> 606158 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793"> 12q24.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600175"> Neuronopathy, distal hereditary motor, autosomal dominant 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600175"> 600175 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605427"> TRPV4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605427"> 605427 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/858?start=-3&limit=10&highlight=858"> 12q24.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/158590"> Neuronopathy, distal hereditary motor, autosomal dominant 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/158590"> 158590 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608014"> HSPB8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608014"> 608014 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/525?start=-3&limit=10&highlight=525"> 14q32.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617721"> Neuronopathy, distal hereditary motor, autosomal dominant 9 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617721"> 617721 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191050"> WARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191050"> 191050 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold_6" data-toggle="collapse">▲ Close</a>
</div>
</div>
</div>
<div id="mimLinksFold_6" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=600175[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1462&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://clinicaltrials.gov/search?cond=NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1462&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/books/NBK201366/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></dd>
<dd><a href="https://www.diseaseinfosearch.org/x/8275" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=600175[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1216" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/disease/DOID:0111215" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
<dd><a href="http://www.informatics.jax.org/disease/600175" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></dd>
<dd><a href="https://omia.org/OMIA000319/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></dd>
<dd><a href="https://wormbase.org/resources/disease/DOID:0111215" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimLinksFold_6" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimDisorderCodesFold_6" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>SNOMEDCT: 763067000</dd>
<dd>ORPHA: 1216</dd>
<dd>DO: 0111215</dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimDisorderCodesFold_6" data-toggle="collapse">▲ Close</a>
</div>
</div>
</div>
</div>
<div class="row">
<p />
</div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
7:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/168400?search=113500%20156530%20168400%20181405%20184095%20184252%20600175%20605427%20606071%20606835%20606845%20617383&highlight=113500%2C156530%2C168400%2C181405%2C184095%2C184252%2C600175%2C605427%2C606071%2C617383">
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
168400.
</span>
PARASTREMMATIC DWARFISM
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793">
12q24.11</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">168400</span></span>
<br />
<a href="#mimPhenotypeMapFold_7" id="mimPhenotypeMapToggle_7" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_7" class="mimPingletonToggleTriangle" style="color: DarkOrchid">►</span> Phenotype-Gene Relationships</span></a>
<a href="#mimDisorderCodesFold_7" id="mimDisorderCodesToggle_7" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_7" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
<a href="#mimLinksFold_7" id="mimLinksToggle_7" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_7" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
<div id="mimPhenotypeMapFold_7" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-bordered table-condensed small mim-table-padding">
<caption>
Phenotype-Gene Relationships
</caption>
<thead>
<tr>
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793">
12q24.11
</a>
</span>
</td>
<td>
<span class="mim-font">
Parastremmatic dwarfism
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/168400"> 168400 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
TRPV4
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605427"> 605427 </a>
</span>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimPhenotypeMapFold_7" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimLinksFold_7" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=168400[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2421&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://clinicaltrials.gov/search?cond=PARASTREMMATIC DWARFISM" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2421&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/books/NBK201366/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></dd>
<dd><a href="https://www.diseaseinfosearch.org/x/5596" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=168400[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2646" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></dd>
<dd><a href="https://www.possumcore.com/nuxeo/nxdoc/default/c4b099d4-6a72-43dd-a466-ff3f058a0183/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/disease/DOID:0111539" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
<dd><a href="http://www.informatics.jax.org/disease/168400" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></dd>
<dd><a href="https://omia.org/OMIA000319/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></dd>
<dd><a href="https://wormbase.org/resources/disease/DOID:0111539" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimLinksFold_7" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimDisorderCodesFold_7" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>SNOMEDCT: 722210007</dd>
<dd>ORPHA: 2646</dd>
<dd>DO: 0111539</dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimDisorderCodesFold_7" data-toggle="collapse">▲ Close</a>
</div>
</div>
</div>
</div>
<div class="row">
<p />
</div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
8:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/181405?search=113500%20156530%20168400%20181405%20184095%20184252%20600175%20605427%20606071%20606835%20606845%20617383&highlight=113500%2C156530%2C168400%2C181405%2C184095%2C184252%2C600175%2C605427%2C606071%2C617383">
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
181405.
</span>
SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY; SPSMA
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793">
12q24.11</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">181405</span></span>
<br />
<a href="#mimPhenotypeMapFold_8" id="mimPhenotypeMapToggle_8" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_8" class="mimPingletonToggleTriangle" style="color: DarkOrchid">►</span> Phenotype-Gene Relationships</span></a>
<a href="#mimDisorderCodesFold_8" id="mimDisorderCodesToggle_8" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_8" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
<a href="#mimLinksFold_8" id="mimLinksToggle_8" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_8" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
<div id="mimPhenotypeMapFold_8" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-bordered table-condensed small mim-table-padding">
<caption>
Phenotype-Gene Relationships
</caption>
<thead>
<tr>
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793">
12q24.11
</a>
</span>
</td>
<td>
<span class="mim-font">
Scapuloperoneal spinal muscular atrophy
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/181405"> 181405 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
TRPV4
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605427"> 605427 </a>
</span>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimPhenotypeMapFold_8" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimLinksFold_8" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=181405[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=23238&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://clinicaltrials.gov/search?cond=SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=23238&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/books/NBK201366/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></dd>
<dd><a href="https://www.diseaseinfosearch.org/x/413" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=181405[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=431255" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/disease/DOID:0111552" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
<dd><a href="http://www.informatics.jax.org/disease/181405" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></dd>
<dd><a href="https://omia.org/OMIA000319/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></dd>
<dd><a href="https://wormbase.org/resources/disease/DOID:0111552" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimLinksFold_8" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimDisorderCodesFold_8" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>SNOMEDCT: 230248006</dd>
<dd>ICD10CM: G12.1</dd>
<dd>ORPHA: 431255</dd>
<dd>DO: 0111552</dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimDisorderCodesFold_8" data-toggle="collapse">▲ Close</a>
</div>
</div>
</div>
</div>
<div class="row">
<p />
</div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
9:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/184095?search=113500%20156530%20168400%20181405%20184095%20184252%20600175%20605427%20606071%20606835%20606845%20617383&highlight=113500%2C156530%2C168400%2C181405%2C184095%2C184252%2C600175%2C605427%2C606071%2C617383">
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
184095.
</span>
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793">
12q24.11</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">184095</span></span>
<br />
<a href="#mimPhenotypeMapFold_9" id="mimPhenotypeMapToggle_9" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_9" class="mimPingletonToggleTriangle" style="color: DarkOrchid">►</span> Phenotype-Gene Relationships</span></a>
<a href="#mimDisorderCodesFold_9" id="mimDisorderCodesToggle_9" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_9" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
<a href="#mimLinksFold_9" id="mimLinksToggle_9" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_9" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
<div id="mimPhenotypeMapFold_9" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-bordered table-condensed small mim-table-padding">
<caption>
Phenotype-Gene Relationships
</caption>
<thead>
<tr>
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793">
12q24.11
</a>
</span>
</td>
<td>
<span class="mim-font">
SED, Maroteaux type
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/184095"> 184095 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
TRPV4
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605427"> 605427 </a>
</span>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimPhenotypeMapFold_9" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimLinksFold_9" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=184095[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=20061&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://clinicaltrials.gov/search?cond=SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=20061&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/books/NBK201366/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></dd>
<dd><a href="https://www.diseaseinfosearch.org/x/6822" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=184095[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=263482" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></dd>
<dd><a href="https://www.possumcore.com/nuxeo/nxdoc/default/1a5489f6-ebf8-4509-8922-01f75c13479f/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/disease/DOID:0111553" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
<dd><a href="http://www.informatics.jax.org/disease/184095" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></dd>
<dd><a href="https://omia.org/OMIA000319/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></dd>
<dd><a href="https://wormbase.org/resources/disease/DOID:0111553" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimLinksFold_9" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimDisorderCodesFold_9" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>SNOMEDCT: 719204007</dd>
<dd>ORPHA: 263482</dd>
<dd>DO: 0111553</dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimDisorderCodesFold_9" data-toggle="collapse">▲ Close</a>
</div>
</div>
</div>
</div>
<div class="row">
<p />
</div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
10:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/184252?search=113500%20156530%20168400%20181405%20184095%20184252%20600175%20605427%20606071%20606835%20606845%20617383&highlight=113500%2C156530%2C168400%2C181405%2C184095%2C184252%2C600175%2C605427%2C606071%2C617383">
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
184252.
</span>
SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793">
12q24.11</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">184252</span></span>
<br />
<a href="#mimPhenotypeMapFold_10" id="mimPhenotypeMapToggle_10" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_10" class="mimPingletonToggleTriangle" style="color: DarkOrchid">►</span> Phenotype-Gene Relationships</span></a>
<a href="#mimPhenotypicSeriesFold_10" id="mimPhenotypicSeriesToggle_10" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'PhenotypicSeries'})"><span class="small"><span id="mimPhenotypicSeriesToggleTriangle_10" class="mimSingletonToggleTriangle" style="color: #47B7D9">►</span> Phenotypic Series</span></a>
<a href="#mimDisorderCodesFold_10" id="mimDisorderCodesToggle_10" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_10" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
<a href="#mimLinksFold_10" id="mimLinksToggle_10" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_10" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
<div id="mimPhenotypeMapFold_10" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-bordered table-condensed small mim-table-padding">
<caption>
Phenotype-Gene Relationships
</caption>
<thead>
<tr>
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793">
12q24.11
</a>
</span>
</td>
<td>
<span class="mim-font">
Spondylometaphyseal dysplasia, Kozlowski type
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/184252"> 184252 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
TRPV4
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605427"> 605427 </a>
</span>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimPhenotypeMapFold_10" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimPhenotypicSeriesFold_10" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Spondylometaphyseal dysplasia
- <a href="/phenotypicSeries/PS184255">PS184255</a>
- 12 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/985?start=-3&limit=10&highlight=985"> 2q35 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/184255"> Spondylometaphyseal dysplasia, corner fracture type </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/184255"> 184255 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/135600"> FN1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/135600"> 135600 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/360?start=-3&limit=10&highlight=360"> 4q21.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619638"> Spondylometaphyseal dysplasia, Pagnamenta type </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619638"> 619638 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601591"> PRKG2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601591"> 601591 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/325?start=-3&limit=10&highlight=325"> 12q13.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/184250"> SMED Strudwick type </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/184250"> 184250 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120140"> COL2A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120140"> 120140 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/325?start=-3&limit=10&highlight=325"> 12q13.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/156550"> Kniest dysplasia </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/156550"> 156550 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120140"> COL2A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120140"> 120140 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/325?start=-3&limit=10&highlight=325"> 12q13.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/184253"> Spondylometaphyseal dysplasia, Algerian type </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/184253"> 184253 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120140"> COL2A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120140"> 120140 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793"> 12q24.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/184252"> Spondylometaphyseal dysplasia, Kozlowski type </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/184252"> 184252 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605427"> TRPV4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605427"> 605427 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/155?start=-3&limit=10&highlight=155"> 16p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613320"> Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613320"> 613320 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614336"> PAM16 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614336"> 614336 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/44?start=-3&limit=10&highlight=44"> 19p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/250220"> Spondylometaphyseal dysplasia, Sedaghatian type </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/250220"> 250220 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138322"> GPX4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138322"> 138322 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/307?start=-3&limit=10&highlight=307"> 19p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607944"> Spondyloenchondrodysplasia with immune dysregulation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607944"> 607944 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/171640"> ACP5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/171640"> 171640 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/159?start=-3&limit=10&highlight=159"> 21q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602271"> Spondylometaphyseal dysplasia, axial </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602271"> 602271 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603191"> CFAP410 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603191"> 603191 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Not Mapped
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/313420"> Spondylometaphyseal dysplasia, X-linked </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/313420"> 313420 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/313420"> SMDXL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/313420"> 313420 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Not Mapped
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609052"> Spondylometaphyseal dysplasia, type A4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609052"> 609052 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609052"> SMDA4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609052"> 609052 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold_10" data-toggle="collapse">▲ Close</a>
</div>
</div>
</div>
<div id="mimLinksFold_10" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=184252[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12251&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://clinicaltrials.gov/search?cond=SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12251&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
<dd>Gene Reviews</dd>
<dd style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK201366/" title="Autosomal Dominant TRPV4 Disorders" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Autosomal Dominant TRPV4 D…</a></dd><dd style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK540447/" title="Type II Collagen Disorders Overview" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Type II Collagen Disorders…</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=184252[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93314" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></dd>
<dd><a href="https://www.possumcore.com/nuxeo/nxdoc/default/87452a4a-a776-4f5c-aa0a-de93239b167a/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/disease/DOID:0111554" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
<dd><a href="http://www.informatics.jax.org/disease/184252" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></dd>
<dd><a href="https://omia.org/OMIA000319/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></dd>
<dd><a href="https://wormbase.org/resources/disease/DOID:0111554" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimLinksFold_10" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimDisorderCodesFold_10" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>SNOMEDCT: 111304003</dd>
<dd>ORPHA: 93314</dd>
<dd>DO: 0111554</dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimDisorderCodesFold_10" data-toggle="collapse">▲ Close</a>
</div>
</div>
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Search: <span class="mim-text-font">113500 156530 168400 181405 184095 184252 600175 605427 606071 606835 606845 617383 (Search in: MIM number)</span>
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Results: 12 entries.
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<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
1:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<span class="text-danger"><strong>#</strong></span>
113500.
BRACHYOLMIA TYPE 3; BCYM3
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">12q24.11</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">113500</span></span>
</div>
</div>
<div class="row">
<p />
</div>
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<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
2:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<span class="text-danger"><strong>*</strong></span>
605427.
TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4; TRPV4
</span>
<br />
<span class="text-muted">
Cytogenetic location: <span class="mim-font">12q24.11</span>,
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font">12:109,783,087-109,833,398</span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">605427</span></span>
</div>
</div>
<div class="row">
<p />
</div>
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<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
3:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<span class="text-danger"><strong>#</strong></span>
606071.
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC; HMSN2C
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">12q24.11</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">606071</span></span>
</div>
</div>
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<p />
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4:
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<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<span class="text-danger"><strong>#</strong></span>
617383.
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">12q24.11</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">617383</span></span>
</div>
</div>
<div class="row">
<p />
</div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
5:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<span class="text-danger"><strong>#</strong></span>
156530.
METATROPIC DYSPLASIA; MTD
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">12q24.11</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">156530</span></span>
</div>
</div>
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<p />
</div>
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<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
6:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<span class="text-danger"><strong>#</strong></span>
600175.
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 8; HMND8
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">12q24.11</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">600175</span></span>
</div>
</div>
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<p />
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<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
7:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<span class="text-danger"><strong>#</strong></span>
168400.
PARASTREMMATIC DWARFISM
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">12q24.11</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">168400</span></span>
</div>
</div>
<div class="row">
<p />
</div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
8:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<span class="text-danger"><strong>#</strong></span>
181405.
SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY; SPSMA
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">12q24.11</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">181405</span></span>
</div>
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<p />
</div>
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<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
9:
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<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<span class="text-danger"><strong>#</strong></span>
184095.
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">12q24.11</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">184095</span></span>
</div>
</div>
<div class="row">
<p />
</div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
10:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<span class="text-danger"><strong>#</strong></span>
184252.
SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">12q24.11</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">184252</span></span>
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