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Entry
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- #600204 - EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2
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- OMIM
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<p>
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<span class="h4">#600204</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/600204"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS132400"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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</nav>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</h4>
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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</span>
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</span>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=EPIPHYSEAL DYSPLASIA, MULTIPLE" 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></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=17597&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></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1123/" 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></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=600204[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></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=166002" 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></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0070298" 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></div>
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<div><a href="http://www.informatics.jax.org/disease/600204" 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></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0070298" 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></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 166002<br />
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<strong>DO:</strong> 0070298<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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600204
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/1/487?start=-3&limit=10&highlight=487">
|
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1p34.2
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Epiphyseal dysplasia, multiple, 2
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/600204"> 600204 </a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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COL9A2
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/120260"> 120260 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/600204" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS132400" class="btn btn-info" role="button"> Phenotypic Series </a>
|
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|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/600204" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/600204" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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|
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<div>
|
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<span class="mim-font">
|
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|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150077&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150077</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003502" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003502</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003502" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003502</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
</div>
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|
|
|
</div>
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Flattened, irregular epiphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838430&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838430</a>]</span><br /> -
|
|
Varus/valgus knee deformity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838431&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838431</a>]</span><br /> -
|
|
Knee osteoarthritis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/239873007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">239873007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M17</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M17.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M17.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0409959&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0409959</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005086" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005086</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005086" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005086</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mildly short hands <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838432&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838432</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004279" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004279</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
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|
|
|
|
|
|
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|
|
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|
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|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Genetic heterogeneity (see EDM1 <a href="/entry/132400">132400</a>, EDM3 <a href="/entry/600969">600969</a>, EDM4 <a href="/entry/226900">226900</a>, EDM5 <a href="/entry/607078">607078</a>) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br /> -
|
|
Presentation in childhood includes waddling gait and knee pain/stiffness<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in type IX collagen, alpha-2 polypeptide gene (COL9A2, <a href="/entry/120260#0001">120260.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" 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>
|
|
Epiphyseal dysplasia, multiple
|
|
- <a href="/phenotypicSeries/PS132400">PS132400</a>
|
|
- 7 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/1/487?start=-3&limit=10&highlight=487"> 1p34.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600204"> Epiphyseal dysplasia, multiple, 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/600204"> 600204 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120260"> COL9A2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120260"> 120260 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/72?start=-3&limit=10&highlight=72"> 2p24.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607078"> Epiphyseal dysplasia, multiple, 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/607078"> 607078 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602109"> MATN3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602109"> 602109 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/658?start=-3&limit=10&highlight=658"> 5q32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/226900"> Epiphyseal dysplasia, multiple, 4 </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/226900"> 226900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606718"> SLC26A2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606718"> 606718 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/632?start=-3&limit=10&highlight=632"> 6q13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614135"> ?Epiphyseal dysplasia, multiple, 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<p>A number sign (#) is used with this entry because multiple epiphyseal dysplasia-2 (EDM2) is caused by heterozygous mutation in the COL9A2 gene (<a href="/entry/120260">120260</a>) on chromosome 1p34.</p>
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<p>Multiple epiphyseal dysplasia is a clinically and genetically heterogeneous skeletal disorder characterized by joint pain and stiffness, mild short stature, and degenerative joint disease. Onset of the disorder is usually in childhood (summary by <a href="#4" class="mim-tip-reference" title="Jackson, G. C., Marcus-Soekarman, D., Stolte-Dijkstra, I., Verrips, A., Taylor, J. A., Briggs, M. D. <strong>Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.</strong> Am. J. Med. Genet. 152A: 863-869, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20358595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20358595</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20358595[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.33240" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20358595">Jackson et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20358595" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a general phenotypic description and a discussion of genetic heterogeneity of EDM, see EDM1 (<a href="/entry/132400">132400</a>).</p>
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<p><a href="#2" class="mim-tip-reference" title="Briggs, M. D., Choi, H., Warman, M. L., Loughlin, J. A., Wordsworth, P., Sykes, B. C., Irven, C. M. M., Smith, M., Wynne-Davies, R., Lipson, M. H., Biesecker, L. G., Garber, A. P., Lachman, R., Olsen, B. R., Rimoin, D. L., Cohn, D. H. <strong>Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene.</strong> Am. J. Hum. Genet. 55: 678-684, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7942845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7942845</a>]" pmid="7942845">Briggs et al. (1994)</a> summarized the clinical findings in the family with multiple epiphyseal dysplasia (MED) originally reported by <a href="#1" class="mim-tip-reference" title="Barrie, H., Carter, C., Sutcliffe, J. <strong>Multiple epiphysial dysplasia.</strong> Brit. Med. J. 2: 133-137, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13560805/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13560805</a>] [<a href="https://doi.org/10.1136/bmj.2.5089.133" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13560805">Barrie et al. (1958)</a>. Affected individuals typically presented at 2.5 to 6 years of age with pain in the knees. Knee and ankle pain was present throughout childhood. Bilateral osteotomies were required for gross varus deformities of the knees in some individuals. Hands were mildly short and joints prominent. There were no abnormalities of the spine or chest. Examination of x-rays revealed flattened, irregular epiphyses in most joints, particularly the knees. Childhood x-rays showed small epiphyses with a large physeal space. The vertebrae appeared normal in adulthood, but there were some anterior defects at earlier ages. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13560805+7942845" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Fiedler, J., Stove, J., Heber, F., Brenner, R. E. <strong>Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2).</strong> Am. J. Med. Genet. 112: 144-153, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12244547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12244547</a>] [<a href="https://doi.org/10.1002/ajmg.10554" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12244547">Fiedler et al. (2002)</a> reported a 4-generation family in which 12 members had a relatively hip-sparing MED phenotype most consistent with EDM2. The disorder was characterized by childhood onset of pain and stiffness in the knees. Finger joints, ankles, and elbows became symptomatic during early adult life. Some adult patients had free articular bodies which resulted in locking of the joints. Electron microscopic studies showed that collagen fibrils from arthroscopically removed free articular bodies of 2 patients were not obviously different from normal articular cartilage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12244547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Jackson, G. C., Marcus-Soekarman, D., Stolte-Dijkstra, I., Verrips, A., Taylor, J. A., Briggs, M. D. <strong>Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.</strong> Am. J. Med. Genet. 152A: 863-869, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20358595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20358595</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20358595[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.33240" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20358595">Jackson et al. (2010)</a> reported a large 4-generation family with autosomal dominant transmission of EDM2 confirmed by genetic analysis (<a href="/entry/120260#0001">120260.0001</a>). The family had previously been reported by <a href="#7" class="mim-tip-reference" title="Versteylen, R. J., Zwemmer, A., Lorie, C. A. M., Schuur, K. H. <strong>Multiple epiphyseal dysplasia complicated by severe osteochondritis dissecans of the knee: incidence in two families.</strong> Skeletal Radiol. 17: 407-412, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3238439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3238439</a>] [<a href="https://doi.org/10.1007/BF00361659" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3238439">Versteylen et al. (1988)</a>. The proband was a 33-year-old woman with short stature who complained of stiff and painful hands and knees since age 4 years. Radiographs of the knees showed Blount disease (progressive varus deformity of the proximal tibia associated with internal torsion of the tibia), and of the spine showed mild spondyloarthrotic abnormalities in the thoracic region. Her sister had painful and swollen knees since age 4 years and developed severe osteochondritis dissecans as an adult. Two sons of the proband were also affected, showing pain in the knees during walking and clumsy walking. These boys also had frontal bossing, depressed nasal bridge, and were easily fatigued with mild muscle weakness. Radiographs of 1 son at age 3 years showed delayed ossification of the epiphyses, small proximal femoral epiphyses, and small femoral and tibial epiphyses around the knees. Skeletal muscle biopsy and mitochondrial studies showed no significant abnormalities, only mild variations in fiber size and slightly diminished ATP production. <a href="#4" class="mim-tip-reference" title="Jackson, G. C., Marcus-Soekarman, D., Stolte-Dijkstra, I., Verrips, A., Taylor, J. A., Briggs, M. D. <strong>Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.</strong> Am. J. Med. Genet. 152A: 863-869, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20358595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20358595</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20358595[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.33240" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20358595">Jackson et al. (2010)</a> also reported an individual from a second unrelated family with EDM2 characterized by onset at age 3 years of an abnormal gait associated with proximal muscle weakness. He had left-sided developmental dysplasia of the hip. The family history was positive for hypodontia and for osteochondritis dissecans. However, 2 affected adult family members showed improvement of the disorder after puberty. <a href="#4" class="mim-tip-reference" title="Jackson, G. C., Marcus-Soekarman, D., Stolte-Dijkstra, I., Verrips, A., Taylor, J. A., Briggs, M. D. <strong>Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.</strong> Am. J. Med. Genet. 152A: 863-869, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20358595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20358595</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20358595[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.33240" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20358595">Jackson et al. (2010)</a> commented on the mild myopathy present in some affected members of both families, and noted that EDM is characterized by clinical variability even within the same family. The mild myopathic and mitochondrial changes observed may be secondary to a tendinopathy and/or cell stress response resulting from expression of mutant collagen. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20358595+3238439" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of EDM2 in the family reported by <a href="#7" class="mim-tip-reference" title="Versteylen, R. J., Zwemmer, A., Lorie, C. A. M., Schuur, K. H. <strong>Multiple epiphyseal dysplasia complicated by severe osteochondritis dissecans of the knee: incidence in two families.</strong> Skeletal Radiol. 17: 407-412, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3238439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3238439</a>] [<a href="https://doi.org/10.1007/BF00361659" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3238439">Versteylen et al. (1988)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3238439" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Briggs, M. D., Choi, H., Warman, M. L., Loughlin, J. A., Wordsworth, P., Sykes, B. C., Irven, C. M. M., Smith, M., Wynne-Davies, R., Lipson, M. H., Biesecker, L. G., Garber, A. P., Lachman, R., Olsen, B. R., Rimoin, D. L., Cohn, D. H. <strong>Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene.</strong> Am. J. Hum. Genet. 55: 678-684, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7942845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7942845</a>]" pmid="7942845">Briggs et al. (1994)</a> performed linkage studies with chromosome 19 markers in the family originally reported by <a href="#1" class="mim-tip-reference" title="Barrie, H., Carter, C., Sutcliffe, J. <strong>Multiple epiphysial dysplasia.</strong> Brit. Med. J. 2: 133-137, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13560805/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13560805</a>] [<a href="https://doi.org/10.1136/bmj.2.5089.133" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13560805">Barrie et al. (1958)</a> with autosomal dominant multiple epiphyseal dysplasia and demonstrated that the phenotype locus could not be in the region of chromosome 19 where the mutations in other families with multiple epiphyseal dysplasia (<a href="/entry/132400">132400</a>) and the mutation for pseudoachondroplastic dysplasia (<a href="/entry/177170">177170</a>), possibly allelic disorders, had been mapped. Further studies demonstrated that the form of MED in this family mapped to the short arm of chromosome 1 in a region containing the COL9A2 gene (<a href="/entry/120260">120260</a>) which encodes the alpha-2 chain of type IX collagen, a structural component of the cartilage extracellular matrix. <a href="#8" class="mim-tip-reference" title="Warman, M. L., McCarthy, M. T., Perala, M., Vuorio, E., Knoll, J. H. M., McDaniels, C. N., Mayne, R., Beier, D. R., Olsen, B. R. <strong>The genes encoding alpha2 (IX) collagen (COL9A2) map to human chromosome 1p32.2-p33 and mouse chromosome 4.</strong> Genomics 23: 158-162, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7829066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7829066</a>] [<a href="https://doi.org/10.1006/geno.1994.1472" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7829066">Warman et al. (1994)</a> mapped the COL9A2 gene to 1p33-p32 and to chromosome 4 of the mouse. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7829066+13560805+7942845" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a Dutch kindred with MED linked to DNA markers in the 1p32 region, <a href="#5" class="mim-tip-reference" title="Muragaki, Y., Mariman, E. C. M., van Beersum, S. E. C., Perala, M., van Mourik, J. B. A., Warman, M. L., Olsen, B. R., Hamel, B. C. J. <strong>A mutation in the gene encoding the alpha-2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2).</strong> Nature Genet. 12: 103-105, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8528240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8528240</a>] [<a href="https://doi.org/10.1038/ng0196-103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8528240">Muragaki et al. (1996)</a> demonstrated a mutation in the COL9A2 gene (<a href="/entry/120260#0001">120260.0001</a>). The family had been reported previously by <a href="#7" class="mim-tip-reference" title="Versteylen, R. J., Zwemmer, A., Lorie, C. A. M., Schuur, K. H. <strong>Multiple epiphyseal dysplasia complicated by severe osteochondritis dissecans of the knee: incidence in two families.</strong> Skeletal Radiol. 17: 407-412, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3238439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3238439</a>] [<a href="https://doi.org/10.1007/BF00361659" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3238439">Versteylen et al. (1988)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8528240+3238439" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 12 affected members of a 4-generation family with a relatively hip-sparing MED phenotype most consistent with EDM2, <a href="#3" class="mim-tip-reference" title="Fiedler, J., Stove, J., Heber, F., Brenner, R. E. <strong>Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2).</strong> Am. J. Med. Genet. 112: 144-153, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12244547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12244547</a>] [<a href="https://doi.org/10.1002/ajmg.10554" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12244547">Fiedler et al. (2002)</a> identified a splice site mutation in the COL9A2 gene (<a href="/entry/120260#0005">120260.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12244547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Nakashima, E., Ikegawa, S., Ohashi, H., Kimizuka, M., Nishimura, G. <strong>Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation. (Letter)</strong> Am. J. Med. Genet. 133A: 106-107, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15633184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15633184</a>] [<a href="https://doi.org/10.1002/ajmg.a.30481" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15633184">Nakashima et al. (2005)</a> reported a Japanese family with EDM2 confirmed by genetic analysis (<a href="/entry/120260#0002">120260.0002</a>). The proband had bilateral double-layered patellae, indicating that this unusual feature is not unique to autosomal recessive multiple epiphyseal dysplasia with homozygous mutations in the DTDST gene (<a href="/entry/606718">606718</a>; see EDM4 <a href="/entry/226900">226900</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15633184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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Barrie, H., Carter, C., Sutcliffe, J.
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<strong>Multiple epiphysial dysplasia.</strong>
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Brit. Med. J. 2: 133-137, 1958.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13560805/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13560805</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13560805" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/bmj.2.5089.133" target="_blank">Full Text</a>]
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Briggs, M. D., Choi, H., Warman, M. L., Loughlin, J. A., Wordsworth, P., Sykes, B. C., Irven, C. M. M., Smith, M., Wynne-Davies, R., Lipson, M. H., Biesecker, L. G., Garber, A. P., Lachman, R., Olsen, B. R., Rimoin, D. L., Cohn, D. H.
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<strong>Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene.</strong>
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Am. J. Hum. Genet. 55: 678-684, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7942845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7942845</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7942845" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Fiedler, J., Stove, J., Heber, F., Brenner, R. E.
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<strong>Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2).</strong>
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Am. J. Med. Genet. 112: 144-153, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12244547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12244547</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12244547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.10554" target="_blank">Full Text</a>]
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Jackson, G. C., Marcus-Soekarman, D., Stolte-Dijkstra, I., Verrips, A., Taylor, J. A., Briggs, M. D.
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<strong>Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.</strong>
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Am. J. Med. Genet. 152A: 863-869, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20358595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20358595</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20358595[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20358595" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33240" target="_blank">Full Text</a>]
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Muragaki, Y., Mariman, E. C. M., van Beersum, S. E. C., Perala, M., van Mourik, J. B. A., Warman, M. L., Olsen, B. R., Hamel, B. C. J.
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<strong>A mutation in the gene encoding the alpha-2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2).</strong>
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Nature Genet. 12: 103-105, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8528240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8528240</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8528240" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0196-103" target="_blank">Full Text</a>]
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Nakashima, E., Ikegawa, S., Ohashi, H., Kimizuka, M., Nishimura, G.
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<strong>Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation. (Letter)</strong>
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Am. J. Med. Genet. 133A: 106-107, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15633184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15633184</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15633184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30481" target="_blank">Full Text</a>]
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Versteylen, R. J., Zwemmer, A., Lorie, C. A. M., Schuur, K. H.
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<strong>Multiple epiphyseal dysplasia complicated by severe osteochondritis dissecans of the knee: incidence in two families.</strong>
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Skeletal Radiol. 17: 407-412, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3238439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3238439</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3238439" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00361659" target="_blank">Full Text</a>]
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Warman, M. L., McCarthy, M. T., Perala, M., Vuorio, E., Knoll, J. H. M., McDaniels, C. N., Mayne, R., Beier, D. R., Olsen, B. R.
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<strong>The genes encoding alpha2 (IX) collagen (COL9A2) map to human chromosome 1p32.2-p33 and mouse chromosome 4.</strong>
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Genomics 23: 158-162, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7829066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7829066</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7829066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1994.1472" target="_blank">Full Text</a>]
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Victor A. McKusick : 11/22/1994
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alopez : 06/20/2024
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<div class="row collapse" id="mimCollapseEditHistory">
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terry : 03/22/2012<br>terry : 11/24/2010<br>wwang : 11/15/2010<br>ckniffin : 11/9/2010<br>carol : 9/28/2010<br>wwang : 10/26/2005<br>wwang : 10/24/2005<br>ckniffin : 10/12/2005<br>tkritzer : 11/11/2003<br>tkritzer : 11/3/2003<br>carol : 4/18/1998<br>mark : 1/8/1996<br>terry : 1/4/1996<br>mimadm : 9/23/1995<br>terry : 1/27/1995<br>terry : 11/23/1994<br>terry : 11/22/1994
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<strong>#</strong> 600204
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EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2
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<strong>ORPHA:</strong> 166002;
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<strong>DO:</strong> 0070298;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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1p34.2
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<span class="mim-font">
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Epiphyseal dysplasia, multiple, 2
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<span class="mim-font">
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600204
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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COL9A2
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<span class="mim-font">
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120260
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because multiple epiphyseal dysplasia-2 (EDM2) is caused by heterozygous mutation in the COL9A2 gene (120260) on chromosome 1p34.</p>
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<strong>Description</strong>
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<p>Multiple epiphyseal dysplasia is a clinically and genetically heterogeneous skeletal disorder characterized by joint pain and stiffness, mild short stature, and degenerative joint disease. Onset of the disorder is usually in childhood (summary by Jackson et al., 2010). </p><p>For a general phenotypic description and a discussion of genetic heterogeneity of EDM, see EDM1 (132400).</p>
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<strong>Clinical Features</strong>
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<p>Briggs et al. (1994) summarized the clinical findings in the family with multiple epiphyseal dysplasia (MED) originally reported by Barrie et al. (1958). Affected individuals typically presented at 2.5 to 6 years of age with pain in the knees. Knee and ankle pain was present throughout childhood. Bilateral osteotomies were required for gross varus deformities of the knees in some individuals. Hands were mildly short and joints prominent. There were no abnormalities of the spine or chest. Examination of x-rays revealed flattened, irregular epiphyses in most joints, particularly the knees. Childhood x-rays showed small epiphyses with a large physeal space. The vertebrae appeared normal in adulthood, but there were some anterior defects at earlier ages. </p><p>Fiedler et al. (2002) reported a 4-generation family in which 12 members had a relatively hip-sparing MED phenotype most consistent with EDM2. The disorder was characterized by childhood onset of pain and stiffness in the knees. Finger joints, ankles, and elbows became symptomatic during early adult life. Some adult patients had free articular bodies which resulted in locking of the joints. Electron microscopic studies showed that collagen fibrils from arthroscopically removed free articular bodies of 2 patients were not obviously different from normal articular cartilage. </p><p>Jackson et al. (2010) reported a large 4-generation family with autosomal dominant transmission of EDM2 confirmed by genetic analysis (120260.0001). The family had previously been reported by Versteylen et al. (1988). The proband was a 33-year-old woman with short stature who complained of stiff and painful hands and knees since age 4 years. Radiographs of the knees showed Blount disease (progressive varus deformity of the proximal tibia associated with internal torsion of the tibia), and of the spine showed mild spondyloarthrotic abnormalities in the thoracic region. Her sister had painful and swollen knees since age 4 years and developed severe osteochondritis dissecans as an adult. Two sons of the proband were also affected, showing pain in the knees during walking and clumsy walking. These boys also had frontal bossing, depressed nasal bridge, and were easily fatigued with mild muscle weakness. Radiographs of 1 son at age 3 years showed delayed ossification of the epiphyses, small proximal femoral epiphyses, and small femoral and tibial epiphyses around the knees. Skeletal muscle biopsy and mitochondrial studies showed no significant abnormalities, only mild variations in fiber size and slightly diminished ATP production. Jackson et al. (2010) also reported an individual from a second unrelated family with EDM2 characterized by onset at age 3 years of an abnormal gait associated with proximal muscle weakness. He had left-sided developmental dysplasia of the hip. The family history was positive for hypodontia and for osteochondritis dissecans. However, 2 affected adult family members showed improvement of the disorder after puberty. Jackson et al. (2010) commented on the mild myopathy present in some affected members of both families, and noted that EDM is characterized by clinical variability even within the same family. The mild myopathic and mitochondrial changes observed may be secondary to a tendinopathy and/or cell stress response resulting from expression of mutant collagen. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</h4>
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<span class="mim-text-font">
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<p>The transmission pattern of EDM2 in the family reported by Versteylen et al. (1988) was consistent with autosomal dominant inheritance. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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<p>Briggs et al. (1994) performed linkage studies with chromosome 19 markers in the family originally reported by Barrie et al. (1958) with autosomal dominant multiple epiphyseal dysplasia and demonstrated that the phenotype locus could not be in the region of chromosome 19 where the mutations in other families with multiple epiphyseal dysplasia (132400) and the mutation for pseudoachondroplastic dysplasia (177170), possibly allelic disorders, had been mapped. Further studies demonstrated that the form of MED in this family mapped to the short arm of chromosome 1 in a region containing the COL9A2 gene (120260) which encodes the alpha-2 chain of type IX collagen, a structural component of the cartilage extracellular matrix. Warman et al. (1994) mapped the COL9A2 gene to 1p33-p32 and to chromosome 4 of the mouse. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>In a Dutch kindred with MED linked to DNA markers in the 1p32 region, Muragaki et al. (1996) demonstrated a mutation in the COL9A2 gene (120260.0001). The family had been reported previously by Versteylen et al. (1988). </p><p>In 12 affected members of a 4-generation family with a relatively hip-sparing MED phenotype most consistent with EDM2, Fiedler et al. (2002) identified a splice site mutation in the COL9A2 gene (120260.0005). </p><p>Nakashima et al. (2005) reported a Japanese family with EDM2 confirmed by genetic analysis (120260.0002). The proband had bilateral double-layered patellae, indicating that this unusual feature is not unique to autosomal recessive multiple epiphyseal dysplasia with homozygous mutations in the DTDST gene (606718; see EDM4 226900). </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</h4>
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<p />
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Barrie, H., Carter, C., Sutcliffe, J.
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<strong>Multiple epiphysial dysplasia.</strong>
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Brit. Med. J. 2: 133-137, 1958.
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[PubMed: 13560805]
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[Full Text: https://doi.org/10.1136/bmj.2.5089.133]
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</li>
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<li>
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<p class="mim-text-font">
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Briggs, M. D., Choi, H., Warman, M. L., Loughlin, J. A., Wordsworth, P., Sykes, B. C., Irven, C. M. M., Smith, M., Wynne-Davies, R., Lipson, M. H., Biesecker, L. G., Garber, A. P., Lachman, R., Olsen, B. R., Rimoin, D. L., Cohn, D. H.
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<strong>Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene.</strong>
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Am. J. Hum. Genet. 55: 678-684, 1994.
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[PubMed: 7942845]
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</li>
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<li>
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<p class="mim-text-font">
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Fiedler, J., Stove, J., Heber, F., Brenner, R. E.
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<strong>Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2).</strong>
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Am. J. Med. Genet. 112: 144-153, 2002.
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[PubMed: 12244547]
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[Full Text: https://doi.org/10.1002/ajmg.10554]
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</li>
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<li>
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<p class="mim-text-font">
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Jackson, G. C., Marcus-Soekarman, D., Stolte-Dijkstra, I., Verrips, A., Taylor, J. A., Briggs, M. D.
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<strong>Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.</strong>
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Am. J. Med. Genet. 152A: 863-869, 2010.
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[PubMed: 20358595]
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[Full Text: https://doi.org/10.1002/ajmg.a.33240]
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</li>
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<li>
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<p class="mim-text-font">
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Muragaki, Y., Mariman, E. C. M., van Beersum, S. E. C., Perala, M., van Mourik, J. B. A., Warman, M. L., Olsen, B. R., Hamel, B. C. J.
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<strong>A mutation in the gene encoding the alpha-2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2).</strong>
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Nature Genet. 12: 103-105, 1996.
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[PubMed: 8528240]
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[Full Text: https://doi.org/10.1038/ng0196-103]
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</li>
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<li>
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<p class="mim-text-font">
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Nakashima, E., Ikegawa, S., Ohashi, H., Kimizuka, M., Nishimura, G.
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<strong>Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation. (Letter)</strong>
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Am. J. Med. Genet. 133A: 106-107, 2005.
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[PubMed: 15633184]
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[Full Text: https://doi.org/10.1002/ajmg.a.30481]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Versteylen, R. J., Zwemmer, A., Lorie, C. A. M., Schuur, K. H.
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<strong>Multiple epiphyseal dysplasia complicated by severe osteochondritis dissecans of the knee: incidence in two families.</strong>
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Skeletal Radiol. 17: 407-412, 1988.
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[PubMed: 3238439]
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[Full Text: https://doi.org/10.1007/BF00361659]
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<li>
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<p class="mim-text-font">
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Warman, M. L., McCarthy, M. T., Perala, M., Vuorio, E., Knoll, J. H. M., McDaniels, C. N., Mayne, R., Beier, D. R., Olsen, B. R.
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<strong>The genes encoding alpha2 (IX) collagen (COL9A2) map to human chromosome 1p32.2-p33 and mouse chromosome 4.</strong>
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Genomics 23: 158-162, 1994.
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[PubMed: 7829066]
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[Full Text: https://doi.org/10.1006/geno.1994.1472]
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/12/2005
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 11/22/1994
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<span class="text-nowrap mim-text-font">
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Edit History:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 06/20/2024<br>terry : 03/22/2012<br>terry : 11/24/2010<br>wwang : 11/15/2010<br>ckniffin : 11/9/2010<br>carol : 9/28/2010<br>wwang : 10/26/2005<br>wwang : 10/24/2005<br>ckniffin : 10/12/2005<br>tkritzer : 11/11/2003<br>tkritzer : 11/3/2003<br>carol : 4/18/1998<br>mark : 1/8/1996<br>terry : 1/4/1996<br>mimadm : 9/23/1995<br>terry : 1/27/1995<br>terry : 11/23/1994<br>terry : 11/22/1994
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