3631 lines
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Entry
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- #242900 - SCHIMKE IMMUNOOSSEOUS DYSPLASIA; SIOD
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- OMIM
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<p>
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<span class="h4">#242900</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/242900"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#clinicalManagement">Clinical Management</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="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</nav>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=SCHIMKE IMMUNOOSSEOUS DYSPLASIA" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1812&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/NBK1376/" 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/6823" 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/schimke-immuno-osseous-dysplasia" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=242900[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=1830" 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/d5a38fbb-4acf-46a0-97fb-c532111095e1/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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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060490" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/242900" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0060490" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:242900" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</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> 723995003<br />
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<strong>ORPHA:</strong> 1830<br />
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<strong>DO:</strong> 0060490<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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242900
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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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|
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SCHIMKE IMMUNOOSSEOUS DYSPLASIA; SIOD
|
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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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IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE
|
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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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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
|
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Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/2/990?start=-3&limit=10&highlight=990">
|
|
2q35
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Schimke immunoosseous dysplasia
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/242900"> 242900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
SMARCAL1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606622"> 606622 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/242900" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<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')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/242900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/242900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature, disproportionate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/772086000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">772086000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0878659&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0878659</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003498" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003498</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003498" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003498</a>]</span><br /> -
|
|
Adult male height 136-157 cm <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855747&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855747</a>]</span><br /> -
|
|
Adult female height 107-143 cm <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855748</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Intrauterine growth retardation (50%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22033007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22033007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/764.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.90</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/764.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015934&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015934</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span><br /> -
|
|
Short trunk <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521527&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521527</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Corneal opacities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64634000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64634000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413921009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413921009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/371.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">371.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007957</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007957</a>]</span><br /> -
|
|
Myopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57190000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57190000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/367.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027092&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027092</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</a>]</span><br /> -
|
|
Astigmatism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/82649003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">82649003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/367.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/367.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004106&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004106</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000483" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000483</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000483" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000483</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Depressed nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836542</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Depressed-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Bulbous nasal tip <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855751&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855751</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000414</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000414</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=50ff569bd76b9a6cd5dba7aabce89564" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nose,Bulbous-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=50ff569bd76b9a6cd5dba7aabce89564" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Microdontia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32337007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32337007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3891292&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3891292</a>, <a href="https://bioportal.bioontology.org/search?q=C0240340&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240340</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000691</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000691</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=e20d406d085f08e5a5f007032d800b18" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Microdontia-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=e20d406d085f08e5a5f007032d800b18" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><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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<span class="h5 mim-font">
|
|
<em> Neck </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
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|
|
- Short neck <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95427009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95427009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521525&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521525</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Neck,Short-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><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> CARDIOVASCULAR </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Arteriosclerosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/107671003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">107671003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72092001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72092001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28960008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28960008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I70</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003850&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003850</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002634</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002634</a>]</span><br /> -
|
|
Hypertension, renal <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28119000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28119000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020544</a>]</span><br />
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|
</span>
|
|
</div>
|
|
</div>
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|
</div>
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|
</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Features </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Protruding abdomen <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855750&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855750</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
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|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Nephrotic syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52254009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52254009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">581</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027726&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027726</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000100</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000100</a>]</span><br /> -
|
|
Focal segmental glomerulosclerosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236403004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236403004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25821008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25821008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017668&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017668</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000097</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000097</a>]</span><br /> -
|
|
Scarred glomerular tufts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855745</a>]</span><br /> -
|
|
Perihilar mesangial deposition of proteinaceous material <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855746&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855746</a>]</span><br /> -
|
|
Renal failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42399005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42399005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N19</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">586</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035078</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span><br /> -
|
|
Hypertension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38341003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38341003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/401-405.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">401-405.99</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/997.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">997.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Spondyloepiphyseal dysplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278713008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278713008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q77.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q77.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038015&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038015</a>, <a href="https://bioportal.bioontology.org/search?q=C2745959&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2745959</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002655" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002655</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002655" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002655</a>]</span><br /> -
|
|
Osteopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/312894000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">312894000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029453</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000938</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000938</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Lumbar lordosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/313471000119104" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">313471000119104</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1184923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1184923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002938</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002938</a>]</span><br /> -
|
|
Platyspondyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844704&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844704</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000926" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000926</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000926" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000926</a>]</span><br /> -
|
|
Ovoid vertebral bodies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855665&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855665</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003300</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003300</a>]</span><br /> -
|
|
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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pelvis </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short, broad iliac bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855756</a>]</span><br /> -
|
|
Slanted acetabular roofs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855757&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855757</a>]</span><br /> -
|
|
Shallow acetabular fossae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854910&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854910</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003182" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003182</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003182" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003182</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Small capital femoral epiphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839254&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839254</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003090" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003090</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003090" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003090</a>]</span><br /> -
|
|
Laterally displaced femoral heads <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006453" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006453</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006453" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006453</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hyperpigmented macules <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842774&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842774</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001034" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001034</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001034" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001034</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hair </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Fine hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247546006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247546006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423867&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423867</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002213</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002213</a>]</span><br /> -
|
|
Coarse hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48610005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48610005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0277959&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0277959</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002208" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002208</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002208" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002208</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Normal intelligence <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26941006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26941006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423900&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423900</a>]</span><br /> -
|
|
Motor delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/307653008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">307653008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57187006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57187006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F82</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854301</a>, <a href="https://bioportal.bioontology.org/search?q=C0520947&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0520947</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br /> -
|
|
Transient ischemic attacks <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/266257000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">266257000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G45.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G45.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007787&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007787</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002326" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002326</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002326" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002326</a>]</span><br /> -
|
|
Moyamoya <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/69116000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">69116000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/89142007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">89142007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I67.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/437.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">437.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026654&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026654</a>]</span><br /> -
|
|
Cerebral infarcts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432504007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432504007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I63" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I63</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I63.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I63.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007785&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007785</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025722" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025722</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> VOICE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- High pitched voice <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51406002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51406002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241703&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241703</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001620" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001620</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001620" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001620</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Elevated thyroid stimulating hormone (TSH) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855743&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855743</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/309080005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">309080005</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002925" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002925</a>]</span><br /> -
|
|
Normal growth hormone studies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855744&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855744</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEMATOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
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- Neutropenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/303011007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">303011007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165517008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165517008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84828003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84828003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D70</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.819</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D70.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/288.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/288.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.50</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/288.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0853697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853697</a>, <a href="https://bioportal.bioontology.org/search?q=C0027947&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027947</a>, <a href="https://bioportal.bioontology.org/search?q=C0023530&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023530</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001875" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001875</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001882</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001875" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001875</a>]</span><br /> -
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Lymphopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48813009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48813009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.810" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.810</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/288.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0853986&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853986</a>, <a href="https://bioportal.bioontology.org/search?q=C0024312&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024312</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001888" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001888</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001888" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001888</a>]</span><br /> -
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Thrombocytopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415116008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415116008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302215000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302215000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D69.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D69.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/287.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">287.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392386&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392386</a>, <a href="https://bioportal.bioontology.org/search?q=C0040034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span><br /> -
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Anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271737000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271737000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D64.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D64.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/285.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">285.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002871&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002871</a>, <a href="https://bioportal.bioontology.org/search?q=C1000483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1000483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</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> IMMUNOLOGY </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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- Recurrent infections (fungal, viral, bacterial) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855778&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855778</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/451991000124106" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">451991000124106</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002719</a>]</span><br /> -
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Defective cellular immunity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855752&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855752</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002843" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002843</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002843" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002843</a>]</span><br /> -
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Absent mitogenic response <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855753&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855753</a>]</span><br /> -
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T-cell deficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398055000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398055000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1744558&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1744558</a>]</span><br /> -
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Decreased CD4+ and CD3+/CD4+ lymphocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855754&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855754</a>]</span><br /> -
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Abnormal immunoglobulin levels <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855755&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855755</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010701" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010701</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> LABORATORY ABNORMALITIES </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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- Proteinuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29738008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29738008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/231860006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">231860006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1279888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279888</a>, <a href="https://bioportal.bioontology.org/search?q=C0033687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033687</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</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> MISCELLANEOUS </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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- 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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Marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years)<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> MOLECULAR BASIS </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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- Caused by mutations in the SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A-like gene (SMARCAL1, <a href="/entry/606622#0001">606622.0001</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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</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="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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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that Schimke immunoosseous dysplasia (SIOD) is caused by homozygous or compound heterozygous mutation in the SMARCAL1 gene (<a href="/entry/606622">606622</a>) on chromosome 2q25.</p>
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<br />
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<div>
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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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<p>Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. Additionally, approximately half of affected individuals have hypothyroidism, half have episodic cerebral ischemia, and one-tenth have bone-marrow failure. SIOD has a marked variation in severity, ranging from in utero onset of growth retardation and death within the first 5 years of life to a milder course with the onset of symptoms late in the first decade or early in the second decade of life (summary by <a href="#5" class="mim-tip-reference" title="Boerkoel, C. F., Takashima, H., John, J., Yan, J., Stankiewicz, P., Rosenbarker, L., Andre, J.-L., Bogdanovic, R., Burguet, A., Cockfield, S., Cordeiro, I., Frund, S., and 19 others. <strong>Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.</strong> Nature Genet. 30: 215-220, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11799392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11799392</a>] [<a href="https://doi.org/10.1038/ng821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11799392">Boerkoel et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11799392" 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>Schimke immunoosseous dysplasia was first described by <a href="#21" class="mim-tip-reference" title="Schimke, R. N., Horton, W. A., King, C. R., Martin, N. L. <strong>Chondroitin-6-sulfate mucopolysaccharidosis in conjunction with lymphopenia, defective cellular immunity and the nephrotic syndrome.</strong> Birth Defects Orig. Art. Ser. X(12): 258-266, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4282260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4282260</a>]" pmid="4282260">Schimke et al. (1974)</a> as 'chondroitin-6-sulfate mucopolysaccharidosis.' Later studies did not confirm the mucopolysacchariduria and excluded mucopolysaccharidosis (<a href="#25" class="mim-tip-reference" title="Spranger, J., Pesch, H. J., Stoss, H. <strong>Skelettveraenderungen bei angeborenen Stoffwechselstorungen.</strong> Mschr. Kinderheilk. 129: 670-676, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7035875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7035875</a>]" pmid="7035875">Spranger et al., 1981</a>). The disorder is characterized by the combination of a spondyloepiphyseal dysplasia (SED) with a peculiar clinical phenotype, numerous lentigines, a slowly progressive immune defect, and an immune-complex nephritis which leads to death at about age 8 years. Like ADA deficiency (<a href="/entry/102700">102700</a>), cartilage-hair hypoplasia (<a href="/entry/250250">250250</a>), and Shwachman syndrome (<a href="/entry/260400">260400</a>), this disorder combines abnormality of the immune and skeletal systems. <a href="#25" class="mim-tip-reference" title="Spranger, J., Pesch, H. J., Stoss, H. <strong>Skelettveraenderungen bei angeborenen Stoffwechselstorungen.</strong> Mschr. Kinderheilk. 129: 670-676, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7035875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7035875</a>]" pmid="7035875">Spranger et al. (1981)</a> observed affected sibs. <a href="#22" class="mim-tip-reference" title="Schimke, R. N. <strong>Personal Communication.</strong> Kansas City, Ka. 5/22/1982."None>Schimke (1982)</a> stated that in his case the chondroitin-6-sulfaturia disappeared as the child became older and renal failure progressed. The child died without benefit of autopsy. The history suggested that a previous child was similarly affected and died early in infancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4282260+7035875" 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="#24" class="mim-tip-reference" title="Spranger, J., Hinkel, G. K., Stoss, H., Thoenes, W., Wargowski, D., Zepp, F. <strong>Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.</strong> J. Pediat. 119: 64-72, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2066860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2066860</a>] [<a href="https://doi.org/10.1016/s0022-3476(05)81040-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2066860">Spranger et al. (1991)</a> reported 5 patients with identical clinical and skeletal phenotype and similar laboratory findings except for a lack of mucopolysacchariduria. The patients had rapidly progressive nephropathy, episodes of lymphopenia, and pigmentary skin changes. The patients included an affected brother and sister. In the sister, proteinuria and hypertension were identified at the age of 3.5 years. The radiographic changes were those of spondyloepiphyseal dysplasia. The child died at the age of 8 years. One of the patients had been reported previously by <a href="#9" class="mim-tip-reference" title="Ehrich, J. H. H., Offner, G., Schirg, E., Hoyer, P. F., Helmchen, U., Brodehl, J. <strong>Association of spondylo-epiphyseal dysplasia with nephrotic syndrome.</strong> Pediat. Nephrol. 4: 117-121, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2397176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2397176</a>] [<a href="https://doi.org/10.1007/BF00858821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2397176">Ehrich et al. (1990)</a>. <a href="#24" class="mim-tip-reference" title="Spranger, J., Hinkel, G. K., Stoss, H., Thoenes, W., Wargowski, D., Zepp, F. <strong>Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.</strong> J. Pediat. 119: 64-72, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2066860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2066860</a>] [<a href="https://doi.org/10.1016/s0022-3476(05)81040-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2066860">Spranger et al. (1991)</a> commented on a similar facial appearance in the 5 patients: broad and depressed nasal bridge and bulbous nasal tip. The pigmentary skin changes consisted of multiple lentigines. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2397176+2066860" 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="#17" class="mim-tip-reference" title="Ludman, M. D., Cole, D. E. C., Crocker, J. F. S., Cohen, M. M., Jr. <strong>Schimke immuno-osseous dysplasia: case report and review.</strong> Am. J. Med. Genet. 47: 793-796, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8267014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8267014</a>] [<a href="https://doi.org/10.1002/ajmg.1320470538" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8267014">Ludman et al. (1993)</a> reported an affected girl, who died at age 5.7 years, and reviewed 9 reported patients. Manifestations included SED, lymphopenia, signs of defective cellular immunity, and progressive renal disease. Their patient had the additional findings of thrombocytopenia and microdontia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8267014" 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="#12" class="mim-tip-reference" title="Hashimoto, K., Takeuchi, A., Ieshima, A., Takada, M., Kasagi, M. <strong>Juvenile variant of Schimke immunoosseous dysplasia.</strong> Am. J. Med. Genet. 49: 266-269, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8209883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8209883</a>] [<a href="https://doi.org/10.1002/ajmg.1320490304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8209883">Hashimoto et al. (1994)</a> and <a href="#19" class="mim-tip-reference" title="Santava, A., Zapletalova, J., Michalkova, K., Hanakova, S., Kopriva, F., Santavy, J., Dusek, J., Kleinova, D. <strong>Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia).</strong> Am. J. Med. Genet. 49: 270-273, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8209884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8209884</a>] [<a href="https://doi.org/10.1002/ajmg.1320490305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8209884">Santava et al. (1994)</a> described isolated cases of this disorder. The case reported by <a href="#12" class="mim-tip-reference" title="Hashimoto, K., Takeuchi, A., Ieshima, A., Takada, M., Kasagi, M. <strong>Juvenile variant of Schimke immunoosseous dysplasia.</strong> Am. J. Med. Genet. 49: 266-269, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8209883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8209883</a>] [<a href="https://doi.org/10.1002/ajmg.1320490304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8209883">Hashimoto et al. (1994)</a> was that of a 16-year-old girl with SED, nephrotic syndrome, lymphopenia, and signs of defective cellular immunity. Growth retardation as an initial symptom was noted in early childhood and about 1 year after onset of progressive proteinuria. Skeletal abnormality was noted at age 10 as dislocation of the hip joints and the diagnosis of nephrotic syndrome was made at the age of 16 years. They considered this to be a juvenile variant of Schimke immunoosseous dysplasia. The first symptoms in the patient described by <a href="#19" class="mim-tip-reference" title="Santava, A., Zapletalova, J., Michalkova, K., Hanakova, S., Kopriva, F., Santavy, J., Dusek, J., Kleinova, D. <strong>Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia).</strong> Am. J. Med. Genet. 49: 270-273, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8209884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8209884</a>] [<a href="https://doi.org/10.1002/ajmg.1320490305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8209884">Santava et al. (1994)</a> were growth retardation and myopia. Nephrotic syndrome was diagnosed at the age of 8 years, at which time skeletal roentgenograms showed SED. Renal biopsy showed nodular accumulations of PAS-positive hyaline material. There was lymphopenia with decreased CD4 and CD8 subpopulations. The child died unexpectedly at age 10 with clinical symptoms of encephalitis. Autopsy documented cytomegaloviral pneumonia and advanced mesangioproliferative glomerulonephritis. In the spleen there was PAS-positive hyaline material massively infiltrating the walls of the central arterioles of the splenic follicles. There was marked depletion of lymphocytes in the spleen and in lymph nodes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8209884+8209883" 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>The clinical phenotype of Schimke immunoosseous dysplasia is characterized by growth retardation, renal failure, recurrent infections, cerebral infarcts, and skin pigmentation beginning in childhood. <a href="#13" class="mim-tip-reference" title="Kaitila, I., Savilahti, E., Ormala, T. <strong>Autoimmune enteropathy in Schimke immunoosseous dysplasia.</strong> Am. J. Med. Genet. 77: 427-430, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9632175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9632175</a>]" pmid="9632175">Kaitila et al. (1998)</a> reported a 4-year-old male child who had all the characteristic symptoms of the disorder as well as vomiting and prolonged diarrhea. Studies suggested that malabsorption, demonstrated as increased serum immunoglobulin A anti-gliadin antibody, steatorrhea, and partial villous atrophy of the jejunum, is a previously unrecognized feature of Schimke immunoosseous dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9632175" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Boerkoel, C. F., Nowaczyk, M. J. M., Blaser, S. I., Meschino, W. S., Weksberg, R. <strong>Schimke immunoosseous dysplasia complicated by moyamoya phenomenon.</strong> Am. J. Med. Genet. 78: 118-122, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9674900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9674900</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19980630)78:2<118::aid-ajmg4>3.0.co;2-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9674900">Boerkoel et al. (1998)</a> reported 2 girls, each of consanguineous parentage, who had Schimke immunoosseous dysplasia and cerebral ischemia associated with moyamoya phenomenon (<a href="/entry/252350">252350</a>). In addition, 1 patient also had absent or occluded left transverse sinus and diffuse aortic narrowing. Magnetic resonance angiography (MRA) and magnetic resonance venography (MRV) were used to demonstrate these vascular abnormalities. The findings in the first patient included recurrent herpes labialis and steroid-resistant nephrotic syndrome with hypertension. The second patient likewise had nephrotic syndrome with hypertension and progressed to end-stage renal failure requiring hemodialysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9674900" 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="#20" class="mim-tip-reference" title="Saraiva, J. M., Dinis, A., Resende, C., Faria, E., Gomes, C., Correira, A. J., Gil, J., da Fonseca, N. <strong>Schimke immuno-osseous dysplasia: case report and review of 25 patients.</strong> J. Med. Genet. 36: 786-789, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10528861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10528861</a>] [<a href="https://doi.org/10.1136/jmg.36.10.786" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10528861">Saraiva et al. (1999)</a> reported a patient with Schimke immunoosseous dysplasia. The child was referred at age 5 years because of short stature and proteinuria. He also had increased urinary excretion of chondroitin-6-sulfate, which was present in the patient reported by <a href="#21" class="mim-tip-reference" title="Schimke, R. N., Horton, W. A., King, C. R., Martin, N. L. <strong>Chondroitin-6-sulfate mucopolysaccharidosis in conjunction with lymphopenia, defective cellular immunity and the nephrotic syndrome.</strong> Birth Defects Orig. Art. Ser. X(12): 258-266, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4282260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4282260</a>]" pmid="4282260">Schimke et al. (1974)</a> but had rarely been described in later cases. He had radiographic features consistent with the diagnosis, and immunologic studies showed recurrent lymphopenia with persistent reduction of T lymphocytes. Renal biopsy showed focal segmental glomerulosclerosis that was not steroid-responsive. Including this patient, <a href="#20" class="mim-tip-reference" title="Saraiva, J. M., Dinis, A., Resende, C., Faria, E., Gomes, C., Correira, A. J., Gil, J., da Fonseca, N. <strong>Schimke immuno-osseous dysplasia: case report and review of 25 patients.</strong> J. Med. Genet. 36: 786-789, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10528861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10528861</a>] [<a href="https://doi.org/10.1136/jmg.36.10.786" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10528861">Saraiva et al. (1999)</a> reviewed 25 cases of immunoosseous dysplasia and classified them into 2 groups: a severe form with prenatal onset of short stature, and a more benign form with later onset of symptoms. They concluded that, overall, the clinical features in the 2 groups were similar. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4282260+10528861" 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="#23" class="mim-tip-reference" title="Sigurdardottir, S., Myers, S. M., Woodworth, J. M., Raymond, G. V. <strong>Mental retardation and seizure disorder in Schimke immunoosseous dysplasia.</strong> Am. J. Med. Genet. 90: 294-298, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10710226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10710226</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(20000214)90:4<294::aid-ajmg6>3.0.co;2-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10710226">Sigurdardottir et al. (2000)</a> reported a 17-year-old patient with Schimke immunoosseous dysplasia, which they referred to as SID, who presented with mental retardation, partial complex seizures, and severely disruptive behaviors. MRI of the brain showed focal encephalomalacia in the parietal regions, and MRA showed narrowing of the middle cerebral arteries. The authors were unable to identify an immune defect. They suggested that seizure disorder, mental retardation, and behavior changes may be part of SID, and that an intrinsic vascular defect may be more important in the pathogenesis of SID than an immune deficit. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10710226" 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="#8" class="mim-tip-reference" title="da Fonseca, M. A. <strong>Dental findings in the Schimke immuno-osseous dysplasia.</strong> Am. J. Med. Genet. 93: 158-160, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10869120/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10869120</a>] [<a href="https://doi.org/10.1002/1096-8628(20000717)93:2<158::aid-ajmg14>3.0.co;2-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10869120">Da Fonseca (2000)</a> reported a patient with immunoosseous dysplasia and unusual dental findings. The patient's teeth had a gray-yellowish discoloration, and panoramic studies documented bulbous crowns with a marked cervical constriction of the primary and permanent molars. The pulp chambers were either small or obliterated. Both the enamel and dentin were softer than normal. Based on these findings, a tentative diagnosis of dentinogenesis imperfecta type II (<a href="/entry/125490">125490</a>) was made. The author suggested that future reports of immunoosseous dysplasia carefully document dental and oral findings to determine whether the condition includes dental abnormalities as one of its features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10869120" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Boerkoel, C. F., O'Neill, S., Andre, J. L., Benke, P. J., Bogdanovic, R., Bulla, M., Burguet, A., Cockfield, S., Cordeiro, I., Ehrich, J. H. H., Frund, S., Geary, D. F., and 19 others. <strong>Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature.</strong> Europ. J. Pediat. 159: 1-7, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10653321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10653321</a>] [<a href="https://doi.org/10.1007/s004310050001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10653321">Boerkoel et al. (2000)</a> identified reports of 25 patients with this disorder. They summarized the clinical findings, course, and treatment of the reported patients and included 14 additional patients. The stated criteria for ascertainment were (1) a family history consistent with autosomal recessive inheritance; (2) spondyloepiphyseal dysplasia with exaggerated lumbar lordosis and protruding abdomen; and (3) renal dysfunction. Sixteen of 33 patients had increased thyroid-stimulating hormone (see <a href="/entry/188540">188540</a>), suggesting thyroid dysfunction. The manifestations of cerebral ischemia were found in 18 of 37 patients. Lymphopenia was present in 35 of 37 patients, and neutropenia, thrombocytopenia, and anemia were fairly frequent. A low nasal bridge and a bulbous nasal tip were noted in 26 of 32 and 28 of 33 patients, respectively. The possibility of genetic heterogeneity is obviously great and is suggested perhaps by the fact that 7 of 26 patients had corneal opacities. Did these patients represent a separate entity? <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10653321" 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="Boerkoel, C. F., Takashima, H., John, J., Yan, J., Stankiewicz, P., Rosenbarker, L., Andre, J.-L., Bogdanovic, R., Burguet, A., Cockfield, S., Cordeiro, I., Frund, S., and 19 others. <strong>Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.</strong> Nature Genet. 30: 215-220, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11799392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11799392</a>] [<a href="https://doi.org/10.1038/ng821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11799392">Boerkoel et al. (2002)</a> commented that approximately half of individuals with SIOD have hypothyroidism, half have episodic cerebral ischemia, and one-tenth have bone marrow failure. SIOD varies in severity, ranging from in utero onset of growth retardation and death within the first 5 years of life to a milder course with the onset of symptoms late in the first decade or early in the second decade of life. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11799392" 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>On the basis of data from 38 patients with SIOD in 33 families, <a href="#14" class="mim-tip-reference" title="Lou, S., Lamfers, P., McGuire, N., Boerkoel, C. F. <strong>Longevity in Schimke immuno-osseous dysplasia. (Letter)</strong> J. Med. Genet. 39: 922-925, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12471207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12471207</a>] [<a href="https://doi.org/10.1136/jmg.39.12.922" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12471207">Lou et al. (2002)</a> suggested that disease severity and age at onset follow a continuum from early onset and severe symptoms with death early in life to later onset and mild symptoms with survival into adulthood. They concluded that the severity and age at onset do not, however, invariably predict survival because they reported a patient who had survived to age 20 years despite having a homozygous SMARCAL1 nonsense mutation and severe early onset disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12471207" 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="#26" class="mim-tip-reference" title="Taha, D., Boerkoel, C. F., Balfe, J. W., Khalifah, M., Sloan, E. A., Barbar, M., Haider, A., Kanaan, H. <strong>Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia.</strong> Am. J. Med. Genet. 131A: 194-199, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15523612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15523612</a>] [<a href="https://doi.org/10.1002/ajmg.a.30356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15523612">Taha et al. (2004)</a> reported a case of a 5-year-old Saudi Arabian boy with SIOD who presented with fever of unknown origin secondary to B-cell lymphoma. They suggested that this was the first report of an SIOD patient with a primary lymphoproliferative disorder. The parents were first cousins. A male sib, who died at the age 3 years, was short with facies similar to that of the patient. The patient was homozygous for a 4-bp deletion that removed 2 nucleotides from the 3-prime end of exon 6 of the SMARCAL1 gene, and 2 nucleotides from the beginning of intron 6 (<a href="/entry/606622#0007">606622.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15523612" 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="#11" class="mim-tip-reference" title="Elizondo, L. I., Huang, C., Northrop, J. L., Deguchi, K., Clewing, J. M., Armstrong, D. L., Boerkoel, C. F. <strong>Schimke immuno-osseous dysplasia: a cell autonomous disorder?</strong> Am. J. Med. Genet. 140A: 340-348, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16419127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16419127</a>] [<a href="https://doi.org/10.1002/ajmg.a.31089" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16419127">Elizondo et al. (2006)</a> examined clinical data from 41 patients with SIOD and known SMARCAL1 mutations and found no consistent markers of autoimmune disease. In 14 patients who underwent renal transplantation, none of the transplanted kidneys had recurrence of focal segmental glomerulosclerosis. The lack of elevation of autoimmune markers together with the distinction between transplanted and nontransplanted tissue led <a href="#11" class="mim-tip-reference" title="Elizondo, L. I., Huang, C., Northrop, J. L., Deguchi, K., Clewing, J. M., Armstrong, D. L., Boerkoel, C. F. <strong>Schimke immuno-osseous dysplasia: a cell autonomous disorder?</strong> Am. J. Med. Genet. 140A: 340-348, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16419127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16419127</a>] [<a href="https://doi.org/10.1002/ajmg.a.31089" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16419127">Elizondo et al. (2006)</a> to suggest that SIOD is a cell-autonomous defect rather than of autoimmune or hormonal origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16419127" 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="Clewing, J. M., Antalfy, B. C., Lucke, T., Najafian, B., Marwedel, K. M., Hori, A., Powel, R. M., Safo Do, A. F., Najera, L., SantaCruz, K., Hicks, M. J., Armstrong, D. L., Boerkoel, C. F. <strong>Schimke immuno-osseous dysplasia: a clinicopathological correlation.</strong> J. Med. Genet. 44: 122-130, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16840568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16840568</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16840568[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2006.044313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16840568">Clewing et al. (2007)</a> presented detailed postmortem findings of 2 unrelated patients with genetically confirmed SIOD. Both died of cardiopulmonary failure at ages 13.7 and 23 years, respectively. Expected findings included T-cell deficiency in peripheral lymphoid organs, defective chondrogenesis, renal focal segmental glomerulosclerosis, cerebral ischemic lesions, and premature atherosclerosis. Unexpected findings included a paucity of B cells in the peripheral lymphoid organs, cellular abnormalities in the adenohypophysis, pulmonary emphysema, fatty infiltration of cardiac muscle, testicular hypoplasia with atrophy and azoospermia, and clustering of small cerebral vessels. Glomerular disease did not recur in the renal allograft of either patient. <a href="#6" class="mim-tip-reference" title="Clewing, J. M., Antalfy, B. C., Lucke, T., Najafian, B., Marwedel, K. M., Hori, A., Powel, R. M., Safo Do, A. F., Najera, L., SantaCruz, K., Hicks, M. J., Armstrong, D. L., Boerkoel, C. F. <strong>Schimke immuno-osseous dysplasia: a clinicopathological correlation.</strong> J. Med. Genet. 44: 122-130, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16840568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16840568</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16840568[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2006.044313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16840568">Clewing et al. (2007)</a> suggested that the findings were consistent with a cell-autonomous mechanism involving differentiation and proliferation, rather than an autoimmune phenomenon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16840568" 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="#15" class="mim-tip-reference" title="Lucke, T., Clewing, J. M., Boerkoel, C. F., Hartmann, H., Das, A. M., Knauth, M., Becker, H., Donnerstag, F. <strong>Cerebellar atrophy in Schimke-immuno-osseous dysplasia.</strong> Am. J. Med. Genet. 143A: 2040-2045, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17676601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17676601</a>] [<a href="https://doi.org/10.1002/ajmg.a.31878" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17676601">Lucke et al. (2007)</a> described 3 patients with SIOD and atrophy of the caudal parts of the cerebellar vermis (posterior lobule) and of the cerebellar hemispheres. All 3 patients fulfilled the clinical criteria for the severe form of SIOD: premature birth, early renal insufficiency, and neurologic complications. SMARCAL1 mutations were detected in 2 of 3 patients from whom DNA was available. All 3 patients had widened cerebellar fissures consistent with reduced cerebellar volume. The caudal cerebellar vermis exhibited the greatest volume reduction. In addition, all 3 patients had supratentorial white matter lesions similar to those observed in ischemia. <a href="#15" class="mim-tip-reference" title="Lucke, T., Clewing, J. M., Boerkoel, C. F., Hartmann, H., Das, A. M., Knauth, M., Becker, H., Donnerstag, F. <strong>Cerebellar atrophy in Schimke-immuno-osseous dysplasia.</strong> Am. J. Med. Genet. 143A: 2040-2045, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17676601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17676601</a>] [<a href="https://doi.org/10.1002/ajmg.a.31878" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17676601">Lucke et al. (2007)</a> evaluated imaging studies of 1 patient, who had first been reported by <a href="#16" class="mim-tip-reference" title="Lucke, T., Marwedel, K. M., Kanzelmeyer, N. K., Hori, A., Offner, G., Kreipe, H. H., Ehrich, J. H., Das, A. M. <strong>Generalized atherosclerosis sparing the transplanted kidney in Schimke disease.</strong> Pediat. Nephrol. 19: 672-675, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054643</a>] [<a href="https://doi.org/10.1007/s00467-004-1426-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15054643">Lucke et al. (2004)</a>, at age 12 years and 22 years. No cerebellar atrophy was noted at age 12 years. By age 22, there was marked volume reduction of the posterior lobule of the cerebellar vermis and widening of the cerebellar fissures. <a href="#15" class="mim-tip-reference" title="Lucke, T., Clewing, J. M., Boerkoel, C. F., Hartmann, H., Das, A. M., Knauth, M., Becker, H., Donnerstag, F. <strong>Cerebellar atrophy in Schimke-immuno-osseous dysplasia.</strong> Am. J. Med. Genet. 143A: 2040-2045, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17676601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17676601</a>] [<a href="https://doi.org/10.1002/ajmg.a.31878" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17676601">Lucke et al. (2007)</a> hypothesized that the cerebellar abnormalities are a continuum of the ongoing vascular disease in severe SIOD. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17676601+15054643" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#18" class="mim-tip-reference" title="Petty, E. M., Yanik, G. A., Hutchinson, R. J., Alter, B. P., Schmalstieg, F. C., Levine, J. E., Ginsburg, D., Robillard, J. E., Castle, V. P. <strong>Successful bone marrow transplantation in a patient with Schimke immuno-osseous dysplasia.</strong> J. Pediat. 137: 882-886, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11113849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11113849</a>] [<a href="https://doi.org/10.1067/mpd.2000.109147" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11113849">Petty et al. (2000)</a> described successful bone marrow transplantation in a boy with Schimke immunoosseous dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11113849" 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 children with Schimke immunoosseous dysplasia, <a href="#2" class="mim-tip-reference" title="Bertaina, A., Grimm, P. C., Weinberg, K., Parkman, R., Kristovich, K. M., Barbarito, G., Lippner, E., Dhamdhere, G., Ramachandran, V., Spatz, J. M., Fathallah-Shaykh, S., Atkinson, P. T., and 11 others. <strong>Sequential stem cell-kidney transplantation in Schimke immuno-osseous dysplasia.</strong> New Eng. J. Med. 386: 2295-2302, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35704481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35704481</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35704481[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1056/NEJMoa2117028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35704481">Bertaina et al. (2022)</a> reported successful sequential transplantation of alpha beta-haploidentical hematopoietic stem cells and a kidney from the same donor. Patients 1 and 2 were sibs; one received stem cells and a kidney from their mother and the other received stem cells and a kidney from their father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35704481" 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 SIOD in the families reported by <a href="#5" class="mim-tip-reference" title="Boerkoel, C. F., Takashima, H., John, J., Yan, J., Stankiewicz, P., Rosenbarker, L., Andre, J.-L., Bogdanovic, R., Burguet, A., Cockfield, S., Cordeiro, I., Frund, S., and 19 others. <strong>Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.</strong> Nature Genet. 30: 215-220, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11799392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11799392</a>] [<a href="https://doi.org/10.1038/ng821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11799392">Boerkoel et al. (2002)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11799392" 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>Using genomewide linkage analysis and a positional cloning approach, <a href="#5" class="mim-tip-reference" title="Boerkoel, C. F., Takashima, H., John, J., Yan, J., Stankiewicz, P., Rosenbarker, L., Andre, J.-L., Bogdanovic, R., Burguet, A., Cockfield, S., Cordeiro, I., Frund, S., and 19 others. <strong>Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.</strong> Nature Genet. 30: 215-220, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11799392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11799392</a>] [<a href="https://doi.org/10.1038/ng821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11799392">Boerkoel et al. (2002)</a> determined that mutations in SMARCAL1 (<a href="/entry/606622">606622</a>) are responsible for SIOD. Through analysis of data from persons with SIOD in 26 unrelated families, they observed that affected individuals from 13 of 23 families with severe disease had 2 alleles with nonsense, frameshift, or splicing mutations (see <a href="/entry/606622#0001">606622.0001</a>-<a href="/entry/606622#0003">606622.0003</a>), whereas affected individuals from all 3 of 3 families with milder disease had a missense mutation on each allele (see <a href="/entry/606622#0004">606622.0004</a>-<a href="/entry/606622#0006">606622.0006</a>). These observations suggested that some missense mutations allow retention of partial SMARCAL1 function and thus cause milder disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11799392" 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="#7" class="mim-tip-reference" title="Clewing, J. M., Fryssira, H., Goodman, D., Smithson, S. F., Sloan, E. A., Lou, S., Huang, Y., Choi, K., Lucke, T., Alpay, H., Andre, J.-L., Asakura, Y., and 49 others. <strong>Schimke immunoosseous dysplasia: suggestions of genetic diversity.</strong> Hum. Mutat. 28: 273-283, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17089404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17089404</a>] [<a href="https://doi.org/10.1002/humu.20432" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17089404">Clewing et al. (2007)</a> stated that 43 different mutations in the SMARCAL1 gene had been identified. In 4 SIOD patients with a presumed monoallelic, heterozygous mutation in the SMARCAL1 gene, the authors did not find expressed RNA and/or protein from the other allele, thus demonstrating that these 4 patients had biallelic SMARCAL1 mutations, though the second mutation could not be identified by conventional assays. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17089404" 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><strong><em>Heterogeneity</em></strong></p><p>
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<a href="#7" class="mim-tip-reference" title="Clewing, J. M., Fryssira, H., Goodman, D., Smithson, S. F., Sloan, E. A., Lou, S., Huang, Y., Choi, K., Lucke, T., Alpay, H., Andre, J.-L., Asakura, Y., and 49 others. <strong>Schimke immunoosseous dysplasia: suggestions of genetic diversity.</strong> Hum. Mutat. 28: 273-283, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17089404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17089404</a>] [<a href="https://doi.org/10.1002/humu.20432" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17089404">Clewing et al. (2007)</a> found that 30 of 72 unrelated patients with a clinical diagnosis of SIOD did not have SMARCAL1 coding mutations in either allele. Although the phenotype of mutation-negative patients was very similar to that of mutation-positive patients, the former showed decreased incidences of hyperpigmented macules, lymphopenia, glomerulosclerosis, and cerebral ischemic symptoms, as well as increased developmental delay, compared to the latter. Histologic examination of 2 mutation-negative patients showed a lack of premature atherosclerosis, brain ischemia, or pulmonary hypertension. <a href="#7" class="mim-tip-reference" title="Clewing, J. M., Fryssira, H., Goodman, D., Smithson, S. F., Sloan, E. A., Lou, S., Huang, Y., Choi, K., Lucke, T., Alpay, H., Andre, J.-L., Asakura, Y., and 49 others. <strong>Schimke immunoosseous dysplasia: suggestions of genetic diversity.</strong> Hum. Mutat. 28: 273-283, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17089404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17089404</a>] [<a href="https://doi.org/10.1002/humu.20432" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17089404">Clewing et al. (2007)</a> suggested that such patients may represent an endophenotype of SIOD and possibly locus heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17089404" 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 29 patients who fulfilled the diagnostic criteria for SIOD but who did not have detectable mutations in the SMARCAL1 gene, <a href="#1" class="mim-tip-reference" title="Baradaran-Heravi, A., Thiel, C., Rauch, A., Zenker, M., Boerkoel, C. F., Kaitila, I. <strong>Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia.</strong> Am. J. Med. Genet. 146A: 2013-2017, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18627050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18627050</a>] [<a href="https://doi.org/10.1002/ajmg.a.32406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18627050">Baradaran-Heravi et al. (2008)</a> analyzed the RMRP gene (<a href="/entry/157660">157660</a>), mutations in which are known to cause cartilage-hair hypoplasia (CHH; <a href="/entry/250250">250250</a>), a disorder with the shared features of skeletal dysplasia, defective T-cell proliferation, and impaired lymphocytic production of and responsiveness to interleukin-2 (IL2; <a href="/entry/147680">147680</a>). The authors detected no mutations in the RMRP gene in these patients and concluded that diagnostic criteria for SIOD effectively distinguish between SIOD and CHH, and that RMRP mutations do not cause SIOD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18627050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#10" class="mim-tip-reference" title="Elizondo, L. I., Cho, K. S., Zhang, W., Yan, J., Huang, C., Huang, Y., Choi, K., Sloan, E. A., Deguchi, K., Lou, S., Baradaran-Heravi, A., Takashima, H., Lucke, T., Quiocho, F. A., Boerkoel, C. F. <strong>Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.</strong> J. Med. Genet. 46: 49-59, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18805831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18805831</a>] [<a href="https://doi.org/10.1136/jmg.2008.060095" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18805831">Elizondo et al. (2009)</a> characterized the effects of various SIOD-associated SMARCAL1 mutations, including E848X (<a href="/entry/606622#0001">606622.0001</a>) and R586W (<a href="/entry/606622#0006">606622.0006</a>), in patient tissues and cell lines, and observed that the mutations affected protein expression, stability, subcellular localization, chromatin binding, and enzymatic activity. In vivo analyses confirmed that disease severity is inversely proportional to overall SMARCAL1 activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18805831" 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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Baradaran-Heravi, A., Thiel, C., Rauch, A., Zenker, M., Boerkoel, C. F., Kaitila, I.
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<strong>Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia.</strong>
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Am. J. Med. Genet. 146A: 2013-2017, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18627050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18627050</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18627050" 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.32406" target="_blank">Full Text</a>]
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Bertaina, A., Grimm, P. C., Weinberg, K., Parkman, R., Kristovich, K. M., Barbarito, G., Lippner, E., Dhamdhere, G., Ramachandran, V., Spatz, J. M., Fathallah-Shaykh, S., Atkinson, P. T., and 11 others.
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<strong>Sequential stem cell-kidney transplantation in Schimke immuno-osseous dysplasia.</strong>
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New Eng. J. Med. 386: 2295-2302, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35704481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35704481</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35704481[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35704481" 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/10.1056/NEJMoa2117028" target="_blank">Full Text</a>]
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Boerkoel, C. F., Nowaczyk, M. J. M., Blaser, S. I., Meschino, W. S., Weksberg, R.
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<strong>Schimke immunoosseous dysplasia complicated by moyamoya phenomenon.</strong>
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Am. J. Med. Genet. 78: 118-122, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9674900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9674900</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9674900" 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/(sici)1096-8628(19980630)78:2<118::aid-ajmg4>3.0.co;2-k" target="_blank">Full Text</a>]
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Boerkoel, C. F., O'Neill, S., Andre, J. L., Benke, P. J., Bogdanovic, R., Bulla, M., Burguet, A., Cockfield, S., Cordeiro, I., Ehrich, J. H. H., Frund, S., Geary, D. F., and 19 others.
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<strong>Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature.</strong>
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Europ. J. Pediat. 159: 1-7, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10653321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10653321</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10653321" 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/s004310050001" target="_blank">Full Text</a>]
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Boerkoel, C. F., Takashima, H., John, J., Yan, J., Stankiewicz, P., Rosenbarker, L., Andre, J.-L., Bogdanovic, R., Burguet, A., Cockfield, S., Cordeiro, I., Frund, S., and 19 others.
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<strong>Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.</strong>
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Nature Genet. 30: 215-220, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11799392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11799392</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11799392" 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/ng821" target="_blank">Full Text</a>]
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Clewing, J. M., Antalfy, B. C., Lucke, T., Najafian, B., Marwedel, K. M., Hori, A., Powel, R. M., Safo Do, A. F., Najera, L., SantaCruz, K., Hicks, M. J., Armstrong, D. L., Boerkoel, C. F.
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<strong>Schimke immuno-osseous dysplasia: a clinicopathological correlation.</strong>
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J. Med. Genet. 44: 122-130, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16840568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16840568</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16840568[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16840568" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2006.044313" target="_blank">Full Text</a>]
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Clewing, J. M., Fryssira, H., Goodman, D., Smithson, S. F., Sloan, E. A., Lou, S., Huang, Y., Choi, K., Lucke, T., Alpay, H., Andre, J.-L., Asakura, Y., and 49 others.
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<strong>Schimke immunoosseous dysplasia: suggestions of genetic diversity.</strong>
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Hum. Mutat. 28: 273-283, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17089404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17089404</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17089404" 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/humu.20432" target="_blank">Full Text</a>]
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da Fonseca, M. A.
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<strong>Dental findings in the Schimke immuno-osseous dysplasia.</strong>
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Am. J. Med. Genet. 93: 158-160, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10869120/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10869120</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10869120" 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/10.1002/1096-8628(20000717)93:2<158::aid-ajmg14>3.0.co;2-4" target="_blank">Full Text</a>]
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Ehrich, J. H. H., Offner, G., Schirg, E., Hoyer, P. F., Helmchen, U., Brodehl, J.
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<strong>Association of spondylo-epiphyseal dysplasia with nephrotic syndrome.</strong>
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Pediat. Nephrol. 4: 117-121, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2397176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2397176</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2397176" 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/BF00858821" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.2008.060095" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.31089" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320490304" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.39.12.922" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.31878" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s00467-004-1426-z" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320470538" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 07/18/2022
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Marla J. F. O'Neill - updated : 6/9/2009<br>Marla J. F. O'Neill - updated : 5/5/2009<br>Kelly A. Przylepa - updated : 11/5/2007<br>Cassandra L. Kniffin - updated : 2/26/2007<br>Marla J. F. O'Neill - updated : 3/7/2006<br>Victor A. McKusick - updated : 1/14/2005<br>Victor A. McKusick - updated : 6/30/2003<br>Victor A. McKusick - updated : 1/22/2002<br>Deborah L. Stone - updated : 9/1/2001<br>Victor A. McKusick - updated : 1/12/2001<br>Sonja A. Rasmussen - updated : 9/21/2000<br>Sonja A. Rasmussen - updated : 3/6/2000<br>Michael J. Wright - updated : 2/4/2000<br>Victor A. McKusick - updated : 9/2/1998<br>Victor A. McKusick - updated : 7/29/1998
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Victor A. McKusick : 6/3/1986
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alopez : 01/17/2024
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carol : 09/08/2023<br>carol : 07/18/2022<br>joanna : 10/22/2021<br>carol : 06/21/2016<br>wwang : 6/9/2009<br>wwang : 5/29/2009<br>terry : 5/5/2009<br>carol : 11/5/2007<br>wwang : 5/22/2007<br>ckniffin : 5/16/2007<br>ckniffin : 5/16/2007<br>wwang : 3/2/2007<br>ckniffin : 2/26/2007<br>wwang : 3/15/2006<br>terry : 3/7/2006<br>terry : 3/7/2006<br>wwang : 1/26/2005<br>wwang : 1/20/2005<br>terry : 1/14/2005<br>tkritzer : 7/8/2003<br>terry : 6/30/2003<br>alopez : 1/23/2002<br>terry : 1/22/2002<br>carol : 9/1/2001<br>carol : 1/12/2001<br>terry : 1/12/2001<br>mcapotos : 9/22/2000<br>mcapotos : 9/21/2000<br>alopez : 3/20/2000<br>alopez : 3/8/2000<br>mcapotos : 3/8/2000<br>mcapotos : 3/6/2000<br>mcapotos : 3/6/2000<br>alopez : 2/4/2000<br>alopez : 9/8/1998<br>terry : 9/2/1998<br>carol : 8/3/1998<br>terry : 7/29/1998<br>carol : 6/1/1994<br>mimadm : 4/18/1994<br>warfield : 4/15/1994<br>carol : 11/23/1993<br>carol : 11/1/1993<br>supermim : 3/16/1992
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<strong>#</strong> 242900
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SCHIMKE IMMUNOOSSEOUS DYSPLASIA; SIOD
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IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE
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<strong>SNOMEDCT:</strong> 723995003;
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<strong>ORPHA:</strong> 1830;
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<strong>DO:</strong> 0060490;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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2q35
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Schimke immunoosseous dysplasia
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242900
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Autosomal recessive
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3
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SMARCAL1
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606622
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<p>A number sign (#) is used with this entry because of evidence that Schimke immunoosseous dysplasia (SIOD) is caused by homozygous or compound heterozygous mutation in the SMARCAL1 gene (606622) on chromosome 2q25.</p>
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<p>Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. Additionally, approximately half of affected individuals have hypothyroidism, half have episodic cerebral ischemia, and one-tenth have bone-marrow failure. SIOD has a marked variation in severity, ranging from in utero onset of growth retardation and death within the first 5 years of life to a milder course with the onset of symptoms late in the first decade or early in the second decade of life (summary by Boerkoel et al., 2002). </p>
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<p>Schimke immunoosseous dysplasia was first described by Schimke et al. (1974) as 'chondroitin-6-sulfate mucopolysaccharidosis.' Later studies did not confirm the mucopolysacchariduria and excluded mucopolysaccharidosis (Spranger et al., 1981). The disorder is characterized by the combination of a spondyloepiphyseal dysplasia (SED) with a peculiar clinical phenotype, numerous lentigines, a slowly progressive immune defect, and an immune-complex nephritis which leads to death at about age 8 years. Like ADA deficiency (102700), cartilage-hair hypoplasia (250250), and Shwachman syndrome (260400), this disorder combines abnormality of the immune and skeletal systems. Spranger et al. (1981) observed affected sibs. Schimke (1982) stated that in his case the chondroitin-6-sulfaturia disappeared as the child became older and renal failure progressed. The child died without benefit of autopsy. The history suggested that a previous child was similarly affected and died early in infancy. </p><p>Spranger et al. (1991) reported 5 patients with identical clinical and skeletal phenotype and similar laboratory findings except for a lack of mucopolysacchariduria. The patients had rapidly progressive nephropathy, episodes of lymphopenia, and pigmentary skin changes. The patients included an affected brother and sister. In the sister, proteinuria and hypertension were identified at the age of 3.5 years. The radiographic changes were those of spondyloepiphyseal dysplasia. The child died at the age of 8 years. One of the patients had been reported previously by Ehrich et al. (1990). Spranger et al. (1991) commented on a similar facial appearance in the 5 patients: broad and depressed nasal bridge and bulbous nasal tip. The pigmentary skin changes consisted of multiple lentigines. </p><p>Ludman et al. (1993) reported an affected girl, who died at age 5.7 years, and reviewed 9 reported patients. Manifestations included SED, lymphopenia, signs of defective cellular immunity, and progressive renal disease. Their patient had the additional findings of thrombocytopenia and microdontia. </p><p>Hashimoto et al. (1994) and Santava et al. (1994) described isolated cases of this disorder. The case reported by Hashimoto et al. (1994) was that of a 16-year-old girl with SED, nephrotic syndrome, lymphopenia, and signs of defective cellular immunity. Growth retardation as an initial symptom was noted in early childhood and about 1 year after onset of progressive proteinuria. Skeletal abnormality was noted at age 10 as dislocation of the hip joints and the diagnosis of nephrotic syndrome was made at the age of 16 years. They considered this to be a juvenile variant of Schimke immunoosseous dysplasia. The first symptoms in the patient described by Santava et al. (1994) were growth retardation and myopia. Nephrotic syndrome was diagnosed at the age of 8 years, at which time skeletal roentgenograms showed SED. Renal biopsy showed nodular accumulations of PAS-positive hyaline material. There was lymphopenia with decreased CD4 and CD8 subpopulations. The child died unexpectedly at age 10 with clinical symptoms of encephalitis. Autopsy documented cytomegaloviral pneumonia and advanced mesangioproliferative glomerulonephritis. In the spleen there was PAS-positive hyaline material massively infiltrating the walls of the central arterioles of the splenic follicles. There was marked depletion of lymphocytes in the spleen and in lymph nodes. </p><p>The clinical phenotype of Schimke immunoosseous dysplasia is characterized by growth retardation, renal failure, recurrent infections, cerebral infarcts, and skin pigmentation beginning in childhood. Kaitila et al. (1998) reported a 4-year-old male child who had all the characteristic symptoms of the disorder as well as vomiting and prolonged diarrhea. Studies suggested that malabsorption, demonstrated as increased serum immunoglobulin A anti-gliadin antibody, steatorrhea, and partial villous atrophy of the jejunum, is a previously unrecognized feature of Schimke immunoosseous dysplasia. </p><p>Boerkoel et al. (1998) reported 2 girls, each of consanguineous parentage, who had Schimke immunoosseous dysplasia and cerebral ischemia associated with moyamoya phenomenon (252350). In addition, 1 patient also had absent or occluded left transverse sinus and diffuse aortic narrowing. Magnetic resonance angiography (MRA) and magnetic resonance venography (MRV) were used to demonstrate these vascular abnormalities. The findings in the first patient included recurrent herpes labialis and steroid-resistant nephrotic syndrome with hypertension. The second patient likewise had nephrotic syndrome with hypertension and progressed to end-stage renal failure requiring hemodialysis. </p><p>Saraiva et al. (1999) reported a patient with Schimke immunoosseous dysplasia. The child was referred at age 5 years because of short stature and proteinuria. He also had increased urinary excretion of chondroitin-6-sulfate, which was present in the patient reported by Schimke et al. (1974) but had rarely been described in later cases. He had radiographic features consistent with the diagnosis, and immunologic studies showed recurrent lymphopenia with persistent reduction of T lymphocytes. Renal biopsy showed focal segmental glomerulosclerosis that was not steroid-responsive. Including this patient, Saraiva et al. (1999) reviewed 25 cases of immunoosseous dysplasia and classified them into 2 groups: a severe form with prenatal onset of short stature, and a more benign form with later onset of symptoms. They concluded that, overall, the clinical features in the 2 groups were similar. </p><p>Sigurdardottir et al. (2000) reported a 17-year-old patient with Schimke immunoosseous dysplasia, which they referred to as SID, who presented with mental retardation, partial complex seizures, and severely disruptive behaviors. MRI of the brain showed focal encephalomalacia in the parietal regions, and MRA showed narrowing of the middle cerebral arteries. The authors were unable to identify an immune defect. They suggested that seizure disorder, mental retardation, and behavior changes may be part of SID, and that an intrinsic vascular defect may be more important in the pathogenesis of SID than an immune deficit. </p><p>Da Fonseca (2000) reported a patient with immunoosseous dysplasia and unusual dental findings. The patient's teeth had a gray-yellowish discoloration, and panoramic studies documented bulbous crowns with a marked cervical constriction of the primary and permanent molars. The pulp chambers were either small or obliterated. Both the enamel and dentin were softer than normal. Based on these findings, a tentative diagnosis of dentinogenesis imperfecta type II (125490) was made. The author suggested that future reports of immunoosseous dysplasia carefully document dental and oral findings to determine whether the condition includes dental abnormalities as one of its features. </p><p>Boerkoel et al. (2000) identified reports of 25 patients with this disorder. They summarized the clinical findings, course, and treatment of the reported patients and included 14 additional patients. The stated criteria for ascertainment were (1) a family history consistent with autosomal recessive inheritance; (2) spondyloepiphyseal dysplasia with exaggerated lumbar lordosis and protruding abdomen; and (3) renal dysfunction. Sixteen of 33 patients had increased thyroid-stimulating hormone (see 188540), suggesting thyroid dysfunction. The manifestations of cerebral ischemia were found in 18 of 37 patients. Lymphopenia was present in 35 of 37 patients, and neutropenia, thrombocytopenia, and anemia were fairly frequent. A low nasal bridge and a bulbous nasal tip were noted in 26 of 32 and 28 of 33 patients, respectively. The possibility of genetic heterogeneity is obviously great and is suggested perhaps by the fact that 7 of 26 patients had corneal opacities. Did these patients represent a separate entity? </p><p>Boerkoel et al. (2002) commented that approximately half of individuals with SIOD have hypothyroidism, half have episodic cerebral ischemia, and one-tenth have bone marrow failure. SIOD varies in severity, ranging from in utero onset of growth retardation and death within the first 5 years of life to a milder course with the onset of symptoms late in the first decade or early in the second decade of life. </p><p>On the basis of data from 38 patients with SIOD in 33 families, Lou et al. (2002) suggested that disease severity and age at onset follow a continuum from early onset and severe symptoms with death early in life to later onset and mild symptoms with survival into adulthood. They concluded that the severity and age at onset do not, however, invariably predict survival because they reported a patient who had survived to age 20 years despite having a homozygous SMARCAL1 nonsense mutation and severe early onset disease. </p><p>Taha et al. (2004) reported a case of a 5-year-old Saudi Arabian boy with SIOD who presented with fever of unknown origin secondary to B-cell lymphoma. They suggested that this was the first report of an SIOD patient with a primary lymphoproliferative disorder. The parents were first cousins. A male sib, who died at the age 3 years, was short with facies similar to that of the patient. The patient was homozygous for a 4-bp deletion that removed 2 nucleotides from the 3-prime end of exon 6 of the SMARCAL1 gene, and 2 nucleotides from the beginning of intron 6 (606622.0007). </p><p>Elizondo et al. (2006) examined clinical data from 41 patients with SIOD and known SMARCAL1 mutations and found no consistent markers of autoimmune disease. In 14 patients who underwent renal transplantation, none of the transplanted kidneys had recurrence of focal segmental glomerulosclerosis. The lack of elevation of autoimmune markers together with the distinction between transplanted and nontransplanted tissue led Elizondo et al. (2006) to suggest that SIOD is a cell-autonomous defect rather than of autoimmune or hormonal origin. </p><p>Clewing et al. (2007) presented detailed postmortem findings of 2 unrelated patients with genetically confirmed SIOD. Both died of cardiopulmonary failure at ages 13.7 and 23 years, respectively. Expected findings included T-cell deficiency in peripheral lymphoid organs, defective chondrogenesis, renal focal segmental glomerulosclerosis, cerebral ischemic lesions, and premature atherosclerosis. Unexpected findings included a paucity of B cells in the peripheral lymphoid organs, cellular abnormalities in the adenohypophysis, pulmonary emphysema, fatty infiltration of cardiac muscle, testicular hypoplasia with atrophy and azoospermia, and clustering of small cerebral vessels. Glomerular disease did not recur in the renal allograft of either patient. Clewing et al. (2007) suggested that the findings were consistent with a cell-autonomous mechanism involving differentiation and proliferation, rather than an autoimmune phenomenon. </p><p>Lucke et al. (2007) described 3 patients with SIOD and atrophy of the caudal parts of the cerebellar vermis (posterior lobule) and of the cerebellar hemispheres. All 3 patients fulfilled the clinical criteria for the severe form of SIOD: premature birth, early renal insufficiency, and neurologic complications. SMARCAL1 mutations were detected in 2 of 3 patients from whom DNA was available. All 3 patients had widened cerebellar fissures consistent with reduced cerebellar volume. The caudal cerebellar vermis exhibited the greatest volume reduction. In addition, all 3 patients had supratentorial white matter lesions similar to those observed in ischemia. Lucke et al. (2007) evaluated imaging studies of 1 patient, who had first been reported by Lucke et al. (2004), at age 12 years and 22 years. No cerebellar atrophy was noted at age 12 years. By age 22, there was marked volume reduction of the posterior lobule of the cerebellar vermis and widening of the cerebellar fissures. Lucke et al. (2007) hypothesized that the cerebellar abnormalities are a continuum of the ongoing vascular disease in severe SIOD. </p>
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<p>Petty et al. (2000) described successful bone marrow transplantation in a boy with Schimke immunoosseous dysplasia. </p><p>In 3 children with Schimke immunoosseous dysplasia, Bertaina et al. (2022) reported successful sequential transplantation of alpha beta-haploidentical hematopoietic stem cells and a kidney from the same donor. Patients 1 and 2 were sibs; one received stem cells and a kidney from their mother and the other received stem cells and a kidney from their father. </p>
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<p>The transmission pattern of SIOD in the families reported by Boerkoel et al. (2002) was consistent with autosomal recessive inheritance. </p>
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<p>Using genomewide linkage analysis and a positional cloning approach, Boerkoel et al. (2002) determined that mutations in SMARCAL1 (606622) are responsible for SIOD. Through analysis of data from persons with SIOD in 26 unrelated families, they observed that affected individuals from 13 of 23 families with severe disease had 2 alleles with nonsense, frameshift, or splicing mutations (see 606622.0001-606622.0003), whereas affected individuals from all 3 of 3 families with milder disease had a missense mutation on each allele (see 606622.0004-606622.0006). These observations suggested that some missense mutations allow retention of partial SMARCAL1 function and thus cause milder disease. </p><p>Clewing et al. (2007) stated that 43 different mutations in the SMARCAL1 gene had been identified. In 4 SIOD patients with a presumed monoallelic, heterozygous mutation in the SMARCAL1 gene, the authors did not find expressed RNA and/or protein from the other allele, thus demonstrating that these 4 patients had biallelic SMARCAL1 mutations, though the second mutation could not be identified by conventional assays. </p><p><strong><em>Heterogeneity</em></strong></p><p>
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Clewing et al. (2007) found that 30 of 72 unrelated patients with a clinical diagnosis of SIOD did not have SMARCAL1 coding mutations in either allele. Although the phenotype of mutation-negative patients was very similar to that of mutation-positive patients, the former showed decreased incidences of hyperpigmented macules, lymphopenia, glomerulosclerosis, and cerebral ischemic symptoms, as well as increased developmental delay, compared to the latter. Histologic examination of 2 mutation-negative patients showed a lack of premature atherosclerosis, brain ischemia, or pulmonary hypertension. Clewing et al. (2007) suggested that such patients may represent an endophenotype of SIOD and possibly locus heterogeneity. </p><p>In 29 patients who fulfilled the diagnostic criteria for SIOD but who did not have detectable mutations in the SMARCAL1 gene, Baradaran-Heravi et al. (2008) analyzed the RMRP gene (157660), mutations in which are known to cause cartilage-hair hypoplasia (CHH; 250250), a disorder with the shared features of skeletal dysplasia, defective T-cell proliferation, and impaired lymphocytic production of and responsiveness to interleukin-2 (IL2; 147680). The authors detected no mutations in the RMRP gene in these patients and concluded that diagnostic criteria for SIOD effectively distinguish between SIOD and CHH, and that RMRP mutations do not cause SIOD. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</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>Elizondo et al. (2009) characterized the effects of various SIOD-associated SMARCAL1 mutations, including E848X (606622.0001) and R586W (606622.0006), in patient tissues and cell lines, and observed that the mutations affected protein expression, stability, subcellular localization, chromatin binding, and enzymatic activity. In vivo analyses confirmed that disease severity is inversely proportional to overall SMARCAL1 activity. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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<br />
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</div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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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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Hilary J. Vernon - updated : 07/18/2022<br>Marla J. F. O'Neill - updated : 6/9/2009<br>Marla J. F. O'Neill - updated : 5/5/2009<br>Kelly A. Przylepa - updated : 11/5/2007<br>Cassandra L. Kniffin - updated : 2/26/2007<br>Marla J. F. O'Neill - updated : 3/7/2006<br>Victor A. McKusick - updated : 1/14/2005<br>Victor A. McKusick - updated : 6/30/2003<br>Victor A. McKusick - updated : 1/22/2002<br>Deborah L. Stone - updated : 9/1/2001<br>Victor A. McKusick - updated : 1/12/2001<br>Sonja A. Rasmussen - updated : 9/21/2000<br>Sonja A. Rasmussen - updated : 3/6/2000<br>Michael J. Wright - updated : 2/4/2000<br>Victor A. McKusick - updated : 9/2/1998<br>Victor A. McKusick - updated : 7/29/1998
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</div>
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Victor A. McKusick : 6/3/1986
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alopez : 01/17/2024<br>carol : 09/08/2023<br>carol : 07/18/2022<br>joanna : 10/22/2021<br>carol : 06/21/2016<br>wwang : 6/9/2009<br>wwang : 5/29/2009<br>terry : 5/5/2009<br>carol : 11/5/2007<br>wwang : 5/22/2007<br>ckniffin : 5/16/2007<br>ckniffin : 5/16/2007<br>wwang : 3/2/2007<br>ckniffin : 2/26/2007<br>wwang : 3/15/2006<br>terry : 3/7/2006<br>terry : 3/7/2006<br>wwang : 1/26/2005<br>wwang : 1/20/2005<br>terry : 1/14/2005<br>tkritzer : 7/8/2003<br>terry : 6/30/2003<br>alopez : 1/23/2002<br>terry : 1/22/2002<br>carol : 9/1/2001<br>carol : 1/12/2001<br>terry : 1/12/2001<br>mcapotos : 9/22/2000<br>mcapotos : 9/21/2000<br>alopez : 3/20/2000<br>alopez : 3/8/2000<br>mcapotos : 3/8/2000<br>mcapotos : 3/6/2000<br>mcapotos : 3/6/2000<br>alopez : 2/4/2000<br>alopez : 9/8/1998<br>terry : 9/2/1998<br>carol : 8/3/1998<br>terry : 7/29/1998<br>carol : 6/1/1994<br>mimadm : 4/18/1994<br>warfield : 4/15/1994<br>carol : 11/23/1993<br>carol : 11/1/1993<br>supermim : 3/16/1992
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