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<title>
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Entry
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- #609162 - CZECH DYSPLASIA
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- OMIM
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<span class="h4">#609162</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/609162"><strong>Clinical Synopsis</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="#molecularGenetics">Molecular Genetics</a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<div><a href="https://clinicaltrials.gov/search?cond=(CZECH DYSPLASIA) OR (COL2A1)" class="mim-tip-hint" title="Clinical Trials" 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=16705&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/NBK540447/" 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.diseaseinfosearch.org/x/2089" 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></div>
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<div><a href="https://medlineplus.gov/genetics/condition/spondyloepiphyseal-dysplasia-with-metatarsal-shortening" 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></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=609162[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=137678" 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><a href="https://www.possumcore.com/nuxeo/nxdoc/default/f36b2894-9a2c-4420-8b3f-86fcdef31a22/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></div>
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</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>SNOMEDCT:</strong> 720826006<br />
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<strong>ORPHA:</strong> 137678<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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609162
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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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CZECH DYSPLASIA
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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CZECH DYSPLASIA, METATARSAL TYPE<br />
|
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PSEUDORHEUMATOID DYSPLASIA, PROGRESSIVE, WITH HYPOPLASTIC TOES<br />
|
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SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS
|
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</span>
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</h4>
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</div>
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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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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<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>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
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<th>
|
|
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>
|
|
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/12/325?start=-3&limit=10&highlight=325">
|
|
12q13.11
|
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</a>
|
|
</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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Czech dysplasia
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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/609162"> 609162 </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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COL2A1
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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/120140"> 120140 </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>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/609162" 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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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/609162" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/609162" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<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>
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</span>
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</div>
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<div style="margin-left: 2em;">
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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>
|
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<span class="h5 mim-font">
|
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<strong> GROWTH </strong>
|
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</span>
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</div>
|
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<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>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
|
- Normal stature <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846844&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846844</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>
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<div>
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<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
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</span>
|
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</div>
|
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<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> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mild platyspondyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848999&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848999</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005752" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005752</a>]</span><br /> -
|
|
Irregular vertebral endplates <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842153&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842153</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003301" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003301</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003301" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003301</a>]</span><br /> -
|
|
Narrow intervertebral disc spaces <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11301007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11301007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263870&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263870</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002945" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002945</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002945" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002945</a>]</span><br /> -
|
|
Rectangular lumbar spinal canal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836685&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836685</a>]</span><br /> -
|
|
Accentuated thoracic kyphosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1184919&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1184919</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002942" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002942</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002942" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002942</a>]</span><br /> -
|
|
Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br /> -
|
|
Elongated vertebrae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675257&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675257</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pelvis </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Coxa vara <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12067001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12067001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74820003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74820003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1179328008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1179328008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q65.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q65.82</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.32</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/755.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.62</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239138&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239138</a>, <a href="https://bioportal.bioontology.org/search?q=C5551440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5551440</a>, <a href="https://bioportal.bioontology.org/search?q=C0158481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158481</a>, <a href="https://bioportal.bioontology.org/search?q=C0152431&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152431</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002812</a>]</span><br /> -
|
|
Irregular, sclerotic acetabulae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836687</a>]</span><br /> -
|
|
Flattened capital femoral epiphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836591&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836591</a>]</span><br /> -
|
|
Narrow iliac wings <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836688&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836688</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002868" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002868</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002868" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002868</a>]</span><br /> -
|
|
Narrow, short femoral neck <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836689&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836689</a>]</span><br /> -
|
|
Prominent trochanter <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836690&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836690</a>]</span><br /> -
|
|
Flexion contractures (hip) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/202283002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">202283002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0409354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0409354</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003273" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003273</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.20</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001371" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001371</a>]</span><br />
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|
|
</span>
|
|
</div>
|
|
</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
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- Arthralgia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57676002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57676002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M25.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M25.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/719.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.40</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/719.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003862&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003862</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002829</a>]</span><br /> -
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Flexion contractures (knee) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/202289003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">202289003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0409355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0409355</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006380" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006380</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.20</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001371" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001371</a>]</span><br /> -
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Osteochondromatosis (knee) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675258&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675258</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/268274005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">268274005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66467005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66467005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254044004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254044004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q78.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q78.6</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q78.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q78.4</a>]</span><br />
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<div>
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<span class="h5 mim-font">
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<em> Hands </em>
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<div style="margin-left: 2em;">
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- Short metacarpals (4th-5th) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849672&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849672</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010049</a>]</span><br />
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<em> Feet </em>
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- Hypoplastic or dysplastic toes (3rd, 4th, and 5th) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675259&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675259</a>]</span><br /> -
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Hypoplastic metatarsals (3rd and 4th) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836692&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836692</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010743</a>]</span><br />
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset of joint pain in childhood<br /> -
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Waddling gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271706000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271706000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231712&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231712</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002515" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002515</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002515" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002515</a>]</span><br /> -
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Hip replacement in early adulthood<br />
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</span>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, <a href="/entry/120140#0018">120140.0018</a>)<br />
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</span>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because Czech dysplasia is caused by heterozygous mutation in the COL2A1 gene (<a href="/entry/120140">120140</a>) on chromosome 12q13.</p>
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</span>
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<br />
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Czech dysplasia is an autosomal dominant skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes (<a href="#5" class="mim-tip-reference" title="Marik, I., Marikova, O., Zemkova, D., Kuklik, M., Kozlowski, K. <strong>Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes.</strong> Skeletal Radiol. 33: 157-164, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14730409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14730409</a>] [<a href="https://doi.org/10.1007/s00256-003-0708-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14730409">Marik et al., 2004</a>; <a href="#3" class="mim-tip-reference" title="Kozlowski, K., Marik, I., Marikova, O., Zemkova, D., Kuklik, M. <strong>Czech dysplasia metatarsal type.</strong> Am. J. Med. Genet. 129A: 87-91, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15266623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15266623</a>] [<a href="https://doi.org/10.1002/ajmg.a.30132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15266623">Kozlowski et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15266623+14730409" 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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<br />
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><a href="#10" class="mim-tip-reference" title="Williams, C. J., Considine, E. L., Knowlton, R. G., Reginato, A., Neumann, G., Harrison, D., Buxton, P., Jimenez, S., Prockop, D. J. <strong>Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an arg75-to-cys mutation in the procollagen type II gene (COL2A1).</strong> Hum. Genet. 92: 499-505, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244341</a>] [<a href="https://doi.org/10.1007/BF00216458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8244341">Williams et al. (1993)</a> described a family living in the Chiloe Islands, Chile, in which 7 members in 3 generations had spondyloepiphyseal dysplasia with shortened metacarpals and metatarsals, precocious osteoarthritis, and periarticular apatite-like calcific deposits. The proband was a 40-year-old woman with short fourth and fifth metatarsals and intermittent acute pain and swelling in her knees, ankles, and proximal interphalangeal joints since the age of 12 years. As a result of severe degenerative joint disease, she underwent total hip replacement at age 35; this was complicated by marked heterotopic periarticular calcification. Complete physical examination, anthropometric measurements, and radiographic studies of the spine and peripheral joints in 16 family members revealed that 7 had spondyloepiphyseal dysplasia tarda, brachydactyly, precocious osteoarthritis, and periarticular calcification, while 2 others had the same syndrome without brachydactyly (<a href="#7" class="mim-tip-reference" title="Reginato, A. J., Passano, G. M., Neumann, G., Falasca, G. F., Diaz-Valdez, M., Jimenez, S. A., Williams, C. J. <strong>Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine75-to-cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings.</strong> Arthritis Rheum. 37: 1078-1086, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8024616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8024616</a>] [<a href="https://doi.org/10.1002/art.1780370714" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8024616">Reginato et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8244341+8024616" 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="#5" class="mim-tip-reference" title="Marik, I., Marikova, O., Zemkova, D., Kuklik, M., Kozlowski, K. <strong>Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes.</strong> Skeletal Radiol. 33: 157-164, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14730409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14730409</a>] [<a href="https://doi.org/10.1007/s00256-003-0708-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14730409">Marik et al. (2004)</a> and <a href="#3" class="mim-tip-reference" title="Kozlowski, K., Marik, I., Marikova, O., Zemkova, D., Kuklik, M. <strong>Czech dysplasia metatarsal type.</strong> Am. J. Med. Genet. 129A: 87-91, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15266623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15266623</a>] [<a href="https://doi.org/10.1002/ajmg.a.30132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15266623">Kozlowski et al. (2004)</a> described a dominantly inherited progressive pseudorheumatoid dysplasia that could be distinguished from progressive pseudorheumatoid arthropathy of childhood (PPAC; <a href="/entry/208230">208230</a>), the disorder first reported by <a href="#8" class="mim-tip-reference" title="Spranger, J., Albert, C., Schilling, F. <strong>A progressive connective tissue disease with features of juvenile rheumatoid arthritis and osteochondrodysplasia. (Abstract)</strong> Europ. J. Pediat. 133: 187 only, 1980."None>Spranger et al. (1980)</a>, by dominant inheritance and the unique phenotypic feature of hypoplasia/dysplasia of 1 or 2 toes. They reported a total of 7 patients originating from different parts of the Czech Republic. <a href="#3" class="mim-tip-reference" title="Kozlowski, K., Marik, I., Marikova, O., Zemkova, D., Kuklik, M. <strong>Czech dysplasia metatarsal type.</strong> Am. J. Med. Genet. 129A: 87-91, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15266623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15266623</a>] [<a href="https://doi.org/10.1002/ajmg.a.30132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15266623">Kozlowski et al. (2004)</a> suggested that the disorder be designated Czech dysplasia, metatarsal type. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15266623+14730409" 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 the family reported by <a href="#5" class="mim-tip-reference" title="Marik, I., Marikova, O., Zemkova, D., Kuklik, M., Kozlowski, K. <strong>Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes.</strong> Skeletal Radiol. 33: 157-164, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14730409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14730409</a>] [<a href="https://doi.org/10.1007/s00256-003-0708-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14730409">Marik et al. (2004)</a> in which 4 affected individuals were studied, weather-dependent articular pain was characteristic. This feature was absent in the patients described by <a href="#3" class="mim-tip-reference" title="Kozlowski, K., Marik, I., Marikova, O., Zemkova, D., Kuklik, M. <strong>Czech dysplasia metatarsal type.</strong> Am. J. Med. Genet. 129A: 87-91, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15266623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15266623</a>] [<a href="https://doi.org/10.1002/ajmg.a.30132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15266623">Kozlowski et al. (2004)</a>. The abnormality of the toes was due to short third and fourth metatarsals. The patients were normal adult height. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15266623+14730409" 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>As outlined by <a href="#3" class="mim-tip-reference" title="Kozlowski, K., Marik, I., Marikova, O., Zemkova, D., Kuklik, M. <strong>Czech dysplasia metatarsal type.</strong> Am. J. Med. Genet. 129A: 87-91, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15266623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15266623</a>] [<a href="https://doi.org/10.1002/ajmg.a.30132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15266623">Kozlowski et al. (2004)</a>, skeletal abnormalities were located predominantly in the spine, pelvis, hips, and feet. They included mild platyspondyly with irregularity of the vertebral plates, narrowing of the joint and intervertebral disc spaces, rectangular shape of the lumbar spinal canal in the anteroposterior projection, and dysplasia of the pelvis, hips, and proximal femora. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15266623" 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="#9" class="mim-tip-reference" title="Tzschach, A., Tinschert, S., Kaminsky, E., Lusga, E., Mundlos, S., Graul-Neumann, L. M. <strong>Czech dysplasia: report of a large family and further delineation of the phenotype.</strong> Am. J. Med. Genet. 146A: 1859-1864, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18553548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18553548</a>] [<a href="https://doi.org/10.1002/ajmg.a.32389" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18553548">Tzschach et al. (2008)</a> described a large German family in which 11 members had Czech dysplasia. In addition to typical features of the disorder, all 11 had hearing loss starting in early adulthood. They noted that hearing deficits had been reported in 2 other families with Czech dysplasia (<a href="#1" class="mim-tip-reference" title="Bleasel, J. F., Bisagni-Faure, A., Holderbaum, D., Vacher-Lavenu, M.-C., Haqqi, T. M., Moskowitz, R. W., Menkes, C. J. <strong>Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis.</strong> J. Rheum. 22: 255-261, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7738948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7738948</a>]" pmid="7738948">Bleasel et al., 1995</a>; <a href="#4" class="mim-tip-reference" title="Lopponen, T., Korkko, J., Lundan, T., Seppanen, U., Ignatius, J., Kaariainen, H. <strong>Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with arg75-to-cys mutation in procollagen type II gene (COL2A1).</strong> Arthritis Rheum. 51: 925-932, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15593085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15593085</a>] [<a href="https://doi.org/10.1002/art.20817" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15593085">Lopponen et al., 2004</a>) and suggested that hearing loss be added to the major features of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18553548+15593085+7738948" 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="Matsui, Y., Michigami, T., Tachikawa, K., Yamazaki, M., Kawabata, H., Nishimura, G. <strong>Czech dysplasia occurring in a Japanese family.</strong> Am. J. Med. Genet. 149A: 2285-2289, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19764028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19764028</a>] [<a href="https://doi.org/10.1002/ajmg.a.33010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19764028">Matsui et al. (2009)</a> reported a Japanese family in which a father, daughter, and son had features consistent with Czech dysplasia, including normal height, joint pain in childhood with limited joint mobility, and short toes. The 37-year-old father had already undergone hip replacement. All 3 patients had sensorineural hearing loss. Radiography revealed platyspondyly, irregular vertebral endplates, osteoarthritis, osteochondromatosis, and short metacarpals and metatarsals. In addition, valgus knee, a feature not previously described in Czech dysplasia, was present in all 3 patients. <a href="#6" class="mim-tip-reference" title="Matsui, Y., Michigami, T., Tachikawa, K., Yamazaki, M., Kawabata, H., Nishimura, G. <strong>Czech dysplasia occurring in a Japanese family.</strong> Am. J. Med. Genet. 149A: 2285-2289, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19764028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19764028</a>] [<a href="https://doi.org/10.1002/ajmg.a.33010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19764028">Matsui et al. (2009)</a> stated that this was the first report of a non-European family with Czech dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19764028" 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 Czech dysplasia in the families reported by <a href="#10" class="mim-tip-reference" title="Williams, C. J., Considine, E. L., Knowlton, R. G., Reginato, A., Neumann, G., Harrison, D., Buxton, P., Jimenez, S., Prockop, D. J. <strong>Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an arg75-to-cys mutation in the procollagen type II gene (COL2A1).</strong> Hum. Genet. 92: 499-505, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244341</a>] [<a href="https://doi.org/10.1007/BF00216458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8244341">Williams et al. (1993)</a> and <a href="#2" class="mim-tip-reference" title="Hoornaert, K. P., Marik, I., Kozlowski, K., Cole, T., Le Merrer, M., Leroy, J. G., Coucke, P. J., Sillence, D., Mortier, G. R. <strong>Czech dysplasia metatarsal type: another type II collagen disorder.</strong> Europ. J. Hum. Genet. 15: 1269-1275, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17726487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17726487</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201913" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17726487">Hoornaert et al. (2007)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17726487+8244341" 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 affected members of a Chilean family with spondyloepiphyseal dysplasia with shortened metacarpals and metatarsals, precocious osteoarthritis, and periarticular apatite-like calcific deposits, <a href="#10" class="mim-tip-reference" title="Williams, C. J., Considine, E. L., Knowlton, R. G., Reginato, A., Neumann, G., Harrison, D., Buxton, P., Jimenez, S., Prockop, D. J. <strong>Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an arg75-to-cys mutation in the procollagen type II gene (COL2A1).</strong> Hum. Genet. 92: 499-505, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244341</a>] [<a href="https://doi.org/10.1007/BF00216458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8244341">Williams et al. (1993)</a> identified heterozygosity for an arg75-to-cys (R75C) mutation in the COL2A1 gene (<a href="/entry/120140#0018">120140.0018</a>). (The R75C mutation has also been designated R275C based on a different numbering system.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8244341" 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="#2" class="mim-tip-reference" title="Hoornaert, K. P., Marik, I., Kozlowski, K., Cole, T., Le Merrer, M., Leroy, J. G., Coucke, P. J., Sillence, D., Mortier, G. R. <strong>Czech dysplasia metatarsal type: another type II collagen disorder.</strong> Europ. J. Hum. Genet. 15: 1269-1275, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17726487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17726487</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201913" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17726487">Hoornaert et al. (2007)</a> noted phenotypic similarities between patients with Czech dysplasia and patients with the COL2A1 R75C mutation. They performed targeted sequencing of exon 13 of the COL2A1 (<a href="/entry/120140">120140</a>) gene in patients with Czech dysplasia and identified heterozygosity for the R75C mutation in 2 of the 4 original patients described with Czech dysplasia (case I in <a href="#5" class="mim-tip-reference" title="Marik, I., Marikova, O., Zemkova, D., Kuklik, M., Kozlowski, K. <strong>Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes.</strong> Skeletal Radiol. 33: 157-164, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14730409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14730409</a>] [<a href="https://doi.org/10.1007/s00256-003-0708-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14730409">Marik et al. (2004)</a> and affected mother of case II in <a href="#3" class="mim-tip-reference" title="Kozlowski, K., Marik, I., Marikova, O., Zemkova, D., Kuklik, M. <strong>Czech dysplasia metatarsal type.</strong> Am. J. Med. Genet. 129A: 87-91, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15266623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15266623</a>] [<a href="https://doi.org/10.1002/ajmg.a.30132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15266623">Kozlowski et al. (2004)</a>). The R75C mutation was also found in 3 additional patients. All 5 affected individuals had normal height, spondyloarthropathy, and short postaxial toes. Three individuals had osteochondromatosis of the knee. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15266623+17726487+14730409" 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 all affected members of a large German family with Czech dysplasia, <a href="#9" class="mim-tip-reference" title="Tzschach, A., Tinschert, S., Kaminsky, E., Lusga, E., Mundlos, S., Graul-Neumann, L. M. <strong>Czech dysplasia: report of a large family and further delineation of the phenotype.</strong> Am. J. Med. Genet. 146A: 1859-1864, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18553548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18553548</a>] [<a href="https://doi.org/10.1002/ajmg.a.32389" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18553548">Tzschach et al. (2008)</a> identified the R75C mutation resulting from an 823C-T transition in the COL2A1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18553548" 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 3 affected individuals from a Japanese family with Czech dysplasia, <a href="#6" class="mim-tip-reference" title="Matsui, Y., Michigami, T., Tachikawa, K., Yamazaki, M., Kawabata, H., Nishimura, G. <strong>Czech dysplasia occurring in a Japanese family.</strong> Am. J. Med. Genet. 149A: 2285-2289, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19764028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19764028</a>] [<a href="https://doi.org/10.1002/ajmg.a.33010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19764028">Matsui et al. (2009)</a> identified heterozygosity for the R75C mutation in the COL2A1 gene (<a href="/entry/120140#0018">120140.0018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19764028" 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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Bleasel, J. F., Bisagni-Faure, A., Holderbaum, D., Vacher-Lavenu, M.-C., Haqqi, T. M., Moskowitz, R. W., Menkes, C. J.
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<strong>Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis.</strong>
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J. Rheum. 22: 255-261, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7738948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7738948</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7738948" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Czech dysplasia metatarsal type: another type II collagen disorder.</strong>
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Europ. J. Hum. Genet. 15: 1269-1275, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17726487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17726487</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17726487" 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/sj.ejhg.5201913" target="_blank">Full Text</a>]
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Kozlowski, K., Marik, I., Marikova, O., Zemkova, D., Kuklik, M.
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<strong>Czech dysplasia metatarsal type.</strong>
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Am. J. Med. Genet. 129A: 87-91, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15266623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15266623</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15266623" 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.30132" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Lopponen2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lopponen, T., Korkko, J., Lundan, T., Seppanen, U., Ignatius, J., Kaariainen, H.
|
|
<strong>Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with arg75-to-cys mutation in procollagen type II gene (COL2A1).</strong>
|
|
Arthritis Rheum. 51: 925-932, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15593085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15593085</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15593085" 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/art.20817" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Marik2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Marik, I., Marikova, O., Zemkova, D., Kuklik, M., Kozlowski, K.
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|
<strong>Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes.</strong>
|
|
Skeletal Radiol. 33: 157-164, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14730409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14730409</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14730409" 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/s00256-003-0708-z" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Matsui2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Matsui, Y., Michigami, T., Tachikawa, K., Yamazaki, M., Kawabata, H., Nishimura, G.
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<strong>Czech dysplasia occurring in a Japanese family.</strong>
|
|
Am. J. Med. Genet. 149A: 2285-2289, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19764028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19764028</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19764028" 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.33010" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Reginato1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Reginato, A. J., Passano, G. M., Neumann, G., Falasca, G. F., Diaz-Valdez, M., Jimenez, S. A., Williams, C. J.
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|
<strong>Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine75-to-cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings.</strong>
|
|
Arthritis Rheum. 37: 1078-1086, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8024616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8024616</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8024616" 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/art.1780370714" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Spranger1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Spranger, J., Albert, C., Schilling, F.
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<strong>A progressive connective tissue disease with features of juvenile rheumatoid arthritis and osteochondrodysplasia. (Abstract)</strong>
|
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Europ. J. Pediat. 133: 187 only, 1980.
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Tzschach2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tzschach, A., Tinschert, S., Kaminsky, E., Lusga, E., Mundlos, S., Graul-Neumann, L. M.
|
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<strong>Czech dysplasia: report of a large family and further delineation of the phenotype.</strong>
|
|
Am. J. Med. Genet. 146A: 1859-1864, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18553548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18553548</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18553548" 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.32389" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Williams1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Williams, C. J., Considine, E. L., Knowlton, R. G., Reginato, A., Neumann, G., Harrison, D., Buxton, P., Jimenez, S., Prockop, D. J.
|
|
<strong>Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an arg75-to-cys mutation in the procollagen type II gene (COL2A1).</strong>
|
|
Hum. Genet. 92: 499-505, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244341</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8244341" 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/BF00216458" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Marla J. F. O'Neill - updated : 3/15/2011
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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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Nara Sobreira - updated : 3/4/2011<br>Kelly A. Przylepa - updated : 4/17/2008
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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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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Victor A. McKusick : 1/13/2005
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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="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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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 : 08/09/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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terry : 04/13/2011<br>carol : 3/15/2011<br>terry : 3/15/2011<br>carol : 3/7/2011<br>carol : 3/4/2011<br>terry : 3/4/2011<br>carol : 3/4/2011<br>terry : 3/4/2011<br>carol : 3/4/2011<br>terry : 4/17/2008<br>terry : 12/13/2005<br>wwang : 1/18/2005<br>wwang : 1/14/2005<br>wwang : 1/13/2005
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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 class="container visible-print-block">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 609162
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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CZECH DYSPLASIA
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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CZECH DYSPLASIA, METATARSAL TYPE<br />
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PSEUDORHEUMATOID DYSPLASIA, PROGRESSIVE, WITH HYPOPLASTIC TOES<br />
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SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS
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</span>
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</h4>
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</div>
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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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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 720826006;
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<strong>ORPHA:</strong> 137678;
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</span>
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</p>
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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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<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 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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12q13.11
|
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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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Czech dysplasia
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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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609162
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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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Autosomal dominant
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
3
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
COL2A1
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
120140
|
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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>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
|
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</span>
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</h4>
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<span class="mim-text-font">
|
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<p>A number sign (#) is used with this entry because Czech dysplasia is caused by heterozygous mutation in the COL2A1 gene (120140) on chromosome 12q13.</p>
|
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</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Description</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Czech dysplasia is an autosomal dominant skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes (Marik et al., 2004; Kozlowski et al., 2004). </p>
|
|
</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Clinical Features</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Williams et al. (1993) described a family living in the Chiloe Islands, Chile, in which 7 members in 3 generations had spondyloepiphyseal dysplasia with shortened metacarpals and metatarsals, precocious osteoarthritis, and periarticular apatite-like calcific deposits. The proband was a 40-year-old woman with short fourth and fifth metatarsals and intermittent acute pain and swelling in her knees, ankles, and proximal interphalangeal joints since the age of 12 years. As a result of severe degenerative joint disease, she underwent total hip replacement at age 35; this was complicated by marked heterotopic periarticular calcification. Complete physical examination, anthropometric measurements, and radiographic studies of the spine and peripheral joints in 16 family members revealed that 7 had spondyloepiphyseal dysplasia tarda, brachydactyly, precocious osteoarthritis, and periarticular calcification, while 2 others had the same syndrome without brachydactyly (Reginato et al., 1994). </p><p>Marik et al. (2004) and Kozlowski et al. (2004) described a dominantly inherited progressive pseudorheumatoid dysplasia that could be distinguished from progressive pseudorheumatoid arthropathy of childhood (PPAC; 208230), the disorder first reported by Spranger et al. (1980), by dominant inheritance and the unique phenotypic feature of hypoplasia/dysplasia of 1 or 2 toes. They reported a total of 7 patients originating from different parts of the Czech Republic. Kozlowski et al. (2004) suggested that the disorder be designated Czech dysplasia, metatarsal type. </p><p>In the family reported by Marik et al. (2004) in which 4 affected individuals were studied, weather-dependent articular pain was characteristic. This feature was absent in the patients described by Kozlowski et al. (2004). The abnormality of the toes was due to short third and fourth metatarsals. The patients were normal adult height. </p><p>As outlined by Kozlowski et al. (2004), skeletal abnormalities were located predominantly in the spine, pelvis, hips, and feet. They included mild platyspondyly with irregularity of the vertebral plates, narrowing of the joint and intervertebral disc spaces, rectangular shape of the lumbar spinal canal in the anteroposterior projection, and dysplasia of the pelvis, hips, and proximal femora. </p><p>Tzschach et al. (2008) described a large German family in which 11 members had Czech dysplasia. In addition to typical features of the disorder, all 11 had hearing loss starting in early adulthood. They noted that hearing deficits had been reported in 2 other families with Czech dysplasia (Bleasel et al., 1995; Lopponen et al., 2004) and suggested that hearing loss be added to the major features of the disorder. </p><p>Matsui et al. (2009) reported a Japanese family in which a father, daughter, and son had features consistent with Czech dysplasia, including normal height, joint pain in childhood with limited joint mobility, and short toes. The 37-year-old father had already undergone hip replacement. All 3 patients had sensorineural hearing loss. Radiography revealed platyspondyly, irregular vertebral endplates, osteoarthritis, osteochondromatosis, and short metacarpals and metatarsals. In addition, valgus knee, a feature not previously described in Czech dysplasia, was present in all 3 patients. Matsui et al. (2009) stated that this was the first report of a non-European family with Czech dysplasia. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of Czech dysplasia in the families reported by Williams et al. (1993) and Hoornaert et al. (2007) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of a Chilean family with spondyloepiphyseal dysplasia with shortened metacarpals and metatarsals, precocious osteoarthritis, and periarticular apatite-like calcific deposits, Williams et al. (1993) identified heterozygosity for an arg75-to-cys (R75C) mutation in the COL2A1 gene (120140.0018). (The R75C mutation has also been designated R275C based on a different numbering system.) </p><p>Hoornaert et al. (2007) noted phenotypic similarities between patients with Czech dysplasia and patients with the COL2A1 R75C mutation. They performed targeted sequencing of exon 13 of the COL2A1 (120140) gene in patients with Czech dysplasia and identified heterozygosity for the R75C mutation in 2 of the 4 original patients described with Czech dysplasia (case I in Marik et al. (2004) and affected mother of case II in Kozlowski et al. (2004)). The R75C mutation was also found in 3 additional patients. All 5 affected individuals had normal height, spondyloarthropathy, and short postaxial toes. Three individuals had osteochondromatosis of the knee. </p><p>In all affected members of a large German family with Czech dysplasia, Tzschach et al. (2008) identified the R75C mutation resulting from an 823C-T transition in the COL2A1 gene. </p><p>In 3 affected individuals from a Japanese family with Czech dysplasia, Matsui et al. (2009) identified heterozygosity for the R75C mutation in the COL2A1 gene (120140.0018). </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Bleasel, J. F., Bisagni-Faure, A., Holderbaum, D., Vacher-Lavenu, M.-C., Haqqi, T. M., Moskowitz, R. W., Menkes, C. J.
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<strong>Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis.</strong>
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J. Rheum. 22: 255-261, 1995.
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[PubMed: 7738948]
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Hoornaert, K. P., Marik, I., Kozlowski, K., Cole, T., Le Merrer, M., Leroy, J. G., Coucke, P. J., Sillence, D., Mortier, G. R.
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<strong>Czech dysplasia metatarsal type: another type II collagen disorder.</strong>
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Europ. J. Hum. Genet. 15: 1269-1275, 2007.
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Kozlowski, K., Marik, I., Marikova, O., Zemkova, D., Kuklik, M.
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<strong>Czech dysplasia metatarsal type.</strong>
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Am. J. Med. Genet. 129A: 87-91, 2004.
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[PubMed: 15266623]
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[Full Text: https://doi.org/10.1002/ajmg.a.30132]
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Lopponen, T., Korkko, J., Lundan, T., Seppanen, U., Ignatius, J., Kaariainen, H.
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<strong>Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with arg75-to-cys mutation in procollagen type II gene (COL2A1).</strong>
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Arthritis Rheum. 51: 925-932, 2004.
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[PubMed: 15593085]
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[Full Text: https://doi.org/10.1002/art.20817]
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Marik, I., Marikova, O., Zemkova, D., Kuklik, M., Kozlowski, K.
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<strong>Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes.</strong>
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Skeletal Radiol. 33: 157-164, 2004.
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[PubMed: 14730409]
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[Full Text: https://doi.org/10.1007/s00256-003-0708-z]
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Matsui, Y., Michigami, T., Tachikawa, K., Yamazaki, M., Kawabata, H., Nishimura, G.
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<strong>Czech dysplasia occurring in a Japanese family.</strong>
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Am. J. Med. Genet. 149A: 2285-2289, 2009.
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[PubMed: 19764028]
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[Full Text: https://doi.org/10.1002/ajmg.a.33010]
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Reginato, A. J., Passano, G. M., Neumann, G., Falasca, G. F., Diaz-Valdez, M., Jimenez, S. A., Williams, C. J.
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<strong>Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine75-to-cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings.</strong>
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Arthritis Rheum. 37: 1078-1086, 1994.
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[PubMed: 8024616]
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[Full Text: https://doi.org/10.1002/art.1780370714]
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Spranger, J., Albert, C., Schilling, F.
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<strong>A progressive connective tissue disease with features of juvenile rheumatoid arthritis and osteochondrodysplasia. (Abstract)</strong>
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Europ. J. Pediat. 133: 187 only, 1980.
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Tzschach, A., Tinschert, S., Kaminsky, E., Lusga, E., Mundlos, S., Graul-Neumann, L. M.
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<strong>Czech dysplasia: report of a large family and further delineation of the phenotype.</strong>
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Am. J. Med. Genet. 146A: 1859-1864, 2008.
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[PubMed: 18553548]
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[Full Text: https://doi.org/10.1002/ajmg.a.32389]
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Williams, C. J., Considine, E. L., Knowlton, R. G., Reginato, A., Neumann, G., Harrison, D., Buxton, P., Jimenez, S., Prockop, D. J.
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<strong>Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an arg75-to-cys mutation in the procollagen type II gene (COL2A1).</strong>
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Hum. Genet. 92: 499-505, 1993.
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[PubMed: 8244341]
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[Full Text: https://doi.org/10.1007/BF00216458]
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