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<meta name="keywords" content="C1851413, disease or syndrome, exostoses (multiple) 2 gene, exostoses, multiple caused by mutation in ext2, exostoses, multiple, type 2, exostoses, multiple, type ii, ext2, ext2 exostoses, multiple, ext2 gene, hereditary multiple osteochondromatosis, type ii, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas, benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones. Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk for malignant degeneration is low (~2%-5%)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=377018
|
||
ConceptID=C1851413
|
||
-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Exostoses, multiple, type 2<span class="h1sub">(EXT2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377018</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1851413</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>EXOSTOSES, MULTIPLE, TYPE II; EXT2; Hereditary Multiple Osteochondromatosis, Type II</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="EXT2 - ID: 2132 - NCBI Gene" href="/gene/2132" class="medgenPMinfo">EXT2</a> (11p11.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007586" target="_blank">MONDO:0007586</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/133701" target="_blank">133701</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1235" target="_blank">Hereditary Multiple Osteochondromas</a></div><div>Hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas, benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones. Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk for malignant degeneration is low (~2%-5%). [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1235#ext.Summary" target="NBK1235">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1235#ext.Diagnosis" target="NBK1235">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1235#ext.Clinical_Characteristics" target="NBK1235">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1235#ext.Genetically_Related_Allelic_Disorder" target="NBK1235">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1235#ext.Differential_Diagnosis" target="NBK1235">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1235#ext.Management" target="NBK1235">Management</a> | <a class="medgenPMinfo" href="/books/NBK1235#ext.Genetic_Counseling" target="NBK1235">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1235#ext.Resources" target="NBK1235">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1235#ext.Molecular_Genetics" target="NBK1235">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1235#ext.References" target="NBK1235">References</a> | <a class="medgenPMinfo" href="/books/NBK1235#ext.Chapter_Notes" target="NBK1235">Chapter Notes</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Wim Wuyts | Gregory A Schmale | Howard A Chansky<i>, et. al.</i> <a href="/books/NBK1235" target="NBK1235" title="NCBI Bookshelf: Hereditary Multiple Osteochondromas">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple exostoses most commonly arising from the juxtaepiphyseal region of the long bones.
|
||
For a general phenotypic description and a discussion of genetic heterogeneity of multiple exostoses, see EXT1 (133700). <a target="_blank" href="http://www.omim.org/entry/133701">http://www.omim.org/entry/133701</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Multiple osteochondromas can disrupt bone growth and can cause growth disturbances of the arms, hands, and legs, leading to short stature. Often these problems with bone growth do not affect the right and left limb equally, resulting in uneven limb lengths (limb length discrepancy). Bowing of the forearm or ankle and abnormal development of the hip joints (hip dysplasia) caused by osteochondromas can lead to difficulty walking and general discomfort. Multiple osteochondromas may also result in pain, limited range of joint movement, and pressure on nerves, blood vessels, the spinal cord, and tissues surrounding the osteochondromas.<br /><br />Osteochondromas are typically benign; however, in some instances these tumors become malignant (cancerous). Researchers estimate that people with hereditary multiple osteochondromas have a 1 in 20 to 1 in 200 lifetime risk of developing cancerous osteochondromas (called sarcomas).<br /><br />Hereditary multiple osteochondromas is a condition in which people develop multiple benign (noncancerous) bone tumors called osteochondromas. The number of osteochondromas and the bones on which they are located vary greatly among affected individuals. The osteochondromas are not present at birth, but approximately 96 percent of affected people develop multiple osteochondromas by the time they are 12 years old. Osteochondromas typically form at the end of long bones and on flat bones such as the hip and shoulder blade. <a target="_blank" href="https://medlineplus.gov/genetics/condition/hereditary-multiple-osteochondromas">https://medlineplus.gov/genetics/condition/hereditary-multiple-osteochondromas</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_3054"><div><strong>Chondrosarcoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3054</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0008479</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A slowly growing malignant neoplasm derived from cartilage cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3054">Feature record</a> | <a href="/medgen?term=%22Chondrosarcoma%22%5BClinical%20Features%5D%20OR%203054%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_154364"><div><strong>Genu valgum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154364</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0576093</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The legs angle inward, such that the knees are close together and the ankles far apart.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154364">Feature record</a> | <a href="/medgen?term=%22Genu%20valgum%22%5BClinical%20Features%5D%20OR%20154364%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_323064"><div><strong>Short metacarpal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323064</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1837084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323064">Feature record</a> | <a href="/medgen?term=%22Short%20metacarpal%22%5BClinical%20Features%5D%20OR%20323064%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342004"><div><strong>Madelung-like forearm deformities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342004</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1851419</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342004">Feature record</a> | <a href="/medgen?term=%22Madelung-like%20forearm%20deformities%22%5BClinical%20Features%5D%20OR%20342004%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1790477"><div><strong>Coxa vara</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1790477</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5551440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1790477">Feature record</a> | <a href="/medgen?term=%22Coxa%20vara%22%5BClinical%20Features%5D%20OR%201790477%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57691"><div><strong>Cervical myelopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57691</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0149645</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57691">Feature record</a> | <a href="/medgen?term=%22Cervical%20myelopathy%22%5BClinical%20Features%5D%20OR%2057691%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343565"><div><strong>Peripheral nerve compression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343565</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1851414</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343565">Feature record</a> | <a href="/medgen?term=%22Peripheral%20nerve%20compression%22%5BClinical%20Features%5D%20OR%20343565%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4612"><div><strong>Multiple congenital exostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4612</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0015306</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas, benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones. Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk for malignant degeneration is low (~2%-5%).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4612">Feature record</a> | <a href="/medgen?term=%22Multiple%20congenital%20exostosis%22%5BClinical%20Features%5D%20OR%204612%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322689"><div><strong>Rib exostoses</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322689</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1835579</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple circumscribed bony excrescences located in the ribs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322689">Feature record</a> | <a href="/medgen?term=%22Rib%20exostoses%22%5BClinical%20Features%5D%20OR%20322689%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_335004"><div><strong>Pelvic bone exostoses</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335004</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1844689</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335004">Feature record</a> | <a href="/medgen?term=%22Pelvic%20bone%20exostoses%22%5BClinical%20Features%5D%20OR%20335004%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_377019"><div><strong>Scapular exostoses</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377019</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1851415</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/377019">Feature record</a> | <a href="/medgen?term=%22Scapular%20exostoses%22%5BClinical%20Features%5D%20OR%20377019%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342003"><div><strong>Protuberances at ends of long bones</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342003</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1851418</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342003">Feature record</a> | <a href="/medgen?term=%22Protuberances%20at%20ends%20of%20long%20bones%22%5BClinical%20Features%5D%20OR%20342003%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1790477" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coxa vara</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_154364" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Genu valgum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342004" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Madelung-like forearm deformities</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_323064" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short metacarpal</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4612" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple congenital exostosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335004" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pelvic bone exostoses</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342003" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Protuberances at ends of long bones</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322689" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rib exostoses</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_377019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scapular exostoses</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57691" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cervical myelopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343565" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral nerve compression</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3054" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chondrosarcoma</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0015306[DISCUI]&test_type=Clinical" ref="ncbi_uid=4612">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=4612" target="_blank" href="/omim/133700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1235/" ref="ncbi_uid=4612">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=4612" ref="ncbi_uid=4612">V</a></span></span><span class="TLline"><a href="/medgen/4612" ref="tree=GTR&ncbi_uid=4612&link_uid=4612" title="View MedGen record for 'Multiple congenital exostosis'">Multiple congenital exostosis</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1851413[DISCUI]&test_type=Clinical" ref="ncbi_uid=377018">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=377018" target="_blank" href="/omim/133701">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1235/" ref="ncbi_uid=377018">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=377018" ref="ncbi_uid=377018">V</a></span></span><span class="TLline">Exostoses, multiple, type 2</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=333090" target="_blank" href="/omim/600209">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/333090" ref="tree=GTR&ncbi_uid=333090&link_uid=333090" title="View MedGen record for 'Exostoses, multiple, type III'">Exostoses, multiple, type III</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842242" ref="tree=MeSH" title="MedGen record for Congenital disorder of glycosylation-related bone disorder">Congenital disorder of glycosylation-related bone disorder</a></span><ul><li><span class="TLline"><a href="/medgen/4612" ref="tree=MeSH" title="MedGen record for Multiple congenital exostosis">Multiple congenital exostosis</a></span><ul><li><span class="matched_ds">Exostoses, multiple, type 2</span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32253060">Clinical and Functional Outcomes of Ulnar Lengthening in the Treatment of Masada Type I Forearm Deformities in Hereditary Multiple Osteochondromas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baghdadi S,
|
||
Arabi H,
|
||
Farhoud A,
|
||
Moharrami A,
|
||
Baghdadi T</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2020 Sep;45(9):876.e1-876.e7.
|
||
Epub 2020 Apr 3
|
||
doi: 10.1016/j.jhsa.2020.02.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32253060" target="_blank">32253060</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27491595">Ulnar Distraction Osteogenesis in the Treatment of Forearm Deformities in Children With Multiple Hereditary Exostoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Refsland S,
|
||
Kozin SH,
|
||
Zlotolow DA</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2016 Sep;41(9):888-95.
|
||
Epub 2016 Aug 1
|
||
doi: 10.1016/j.jhsa.2016.06.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27491595" target="_blank">27491595</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23412166">Management of forearm deformities with ulnar shortening more than 15 mm caused by hereditary multiple osteochondromas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tang ZW,
|
||
Cao YL,
|
||
Liu T,
|
||
Chen T,
|
||
Zhang XS</span><br />
|
||
<span class="medgenPMjournal">Eur J Orthop Surg Traumatol</span>
|
||
2013 Jul;23(5):611-8.
|
||
Epub 2012 Jul 1
|
||
doi: 10.1007/s00590-012-1033-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23412166" target="_blank">23412166</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(exostoses%2C%20multiple%2C%20type%202)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (3)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36087118">Distraction osteogenesis at the proximal third of the ulna for the treatment of Masada type I/IIb deformities in children with hereditary multiple exostoses: a retrospective review of twenty cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu Y,
|
||
Canavese F,
|
||
Lin R,
|
||
Huang Y,
|
||
Wu X,
|
||
Lin B,
|
||
Chen S</span><br />
|
||
<span class="medgenPMjournal">Int Orthop</span>
|
||
2022 Dec;46(12):2877-2885.
|
||
Epub 2022 Sep 10
|
||
doi: 10.1007/s00264-022-05551-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36087118" target="_blank">36087118</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35512172">Lower limb deformities and limb length discrepancies in hereditary multiple exostoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Madoki A,
|
||
Tuerlinckx C,
|
||
Rausin G,
|
||
Guiraud K,
|
||
Docquier PL</span><br />
|
||
<span class="medgenPMjournal">Acta Orthop Belg</span>
|
||
2022 Mar;88(1):198-205.
|
||
doi: 10.52628/88.1.25.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35512172" target="_blank">35512172</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33642092">Natural History and Characteristics of Hand Exostoses in Multiple Hereditary Exostoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Komura S,
|
||
Matsumoto K,
|
||
Hirakawa A,
|
||
Akiyama H</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2021 Sep;46(9):815.e1-815.e12.
|
||
Epub 2021 Feb 26
|
||
doi: 10.1016/j.jhsa.2020.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33642092" target="_blank">33642092</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30006632">Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Michot C,
|
||
Le Goff C,
|
||
Blair E,
|
||
Blanchet P,
|
||
Capri Y,
|
||
Gilbert-Dussardier B,
|
||
Goldenberg A,
|
||
Henderson A,
|
||
Isidor B,
|
||
Kayserili H,
|
||
Kinning E,
|
||
Le Merrer M,
|
||
Lyonnet S,
|
||
Odent S,
|
||
Simsek-Kiper PO,
|
||
Quelin C,
|
||
Savarirayan R,
|
||
Simon M,
|
||
Splitt M,
|
||
Verhagen JMA,
|
||
Verloes A,
|
||
Munnich A,
|
||
Baujat G,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2018 Nov;26(11):1611-1622.
|
||
Epub 2018 Jul 13
|
||
doi: 10.1038/s41431-018-0135-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30006632" target="_blank">30006632</a><a href="/pmc/articles/PMC6189044" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11518722">The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duncan G,
|
||
McCormick C,
|
||
Tufaro F</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
2001 Aug;108(4):511-6.
|
||
doi: 10.1172/JCI13737.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11518722" target="_blank">11518722</a><a href="/pmc/articles/PMC209410" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exostoses%2C%20multiple%2C%20type%202%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (28)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36866988">Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Öztürk N,
|
||
Karamık G,
|
||
Mutlu H,
|
||
Bayer ÖY,
|
||
Mıhçı E,
|
||
Çetin GO,
|
||
Nur B</span><br />
|
||
<span class="medgenPMjournal">Turk J Pediatr</span>
|
||
2023;65(1):81-95.
|
||
doi: 10.24953/turkjped.2022.793.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36866988" target="_blank">36866988</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35112464">Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rydzanicz M,
|
||
Glinkowski W,
|
||
Walczak A,
|
||
Koppolu A,
|
||
Kostrzewa G,
|
||
Gasperowicz P,
|
||
Pollak A,
|
||
Stawiński P,
|
||
Płoski R</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 May;188(5):1482-1487.
|
||
Epub 2022 Feb 2
|
||
doi: 10.1002/ajmg.a.62670.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35112464" target="_blank">35112464</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33642092">Natural History and Characteristics of Hand Exostoses in Multiple Hereditary Exostoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Komura S,
|
||
Matsumoto K,
|
||
Hirakawa A,
|
||
Akiyama H</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2021 Sep;46(9):815.e1-815.e12.
|
||
Epub 2021 Feb 26
|
||
doi: 10.1016/j.jhsa.2020.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33642092" target="_blank">33642092</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15115498">Vascular anomalies in Proteus syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoeger PH,
|
||
Martinez A,
|
||
Maerker J,
|
||
Harper JI</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Dermatol</span>
|
||
2004 May;29(3):222-30.
|
||
doi: 10.1111/j.1365-2230.2004.01513.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15115498" target="_blank">15115498</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/301559">Langer-Giedion syndrome: type II tricho-rhino-phalangeal dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stoltzfus E,
|
||
Ladda RL,
|
||
Lloyd-Still J</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1977 Aug;91(2):277-80.
|
||
doi: 10.1016/s0022-3476(77)80832-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/301559" target="_blank">301559</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exostoses%2C%20multiple%2C%20type%202%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (20)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38147161">Factors influencing postoperative bleeding after dental extraction in older adult patients receiving anticoagulation therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ueda K,
|
||
Inokoshi M,
|
||
Kubota K,
|
||
Yamaga E,
|
||
Minakuchi S</span><br />
|
||
<span class="medgenPMjournal">Clin Oral Investig</span>
|
||
2023 Dec 26;28(1):22.
|
||
doi: 10.1007/s00784-023-05424-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38147161" target="_blank">38147161</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34134547">Total hip arthroplasty in hereditary multiple exostosis patients: literature review and evaluation of 10 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ostetto F,
|
||
Lana D,
|
||
Tuzzato G,
|
||
Staals E,
|
||
Donati DM,
|
||
Bianchi G</span><br />
|
||
<span class="medgenPMjournal">Hip Int</span>
|
||
2023 Mar;33(2):161-168.
|
||
Epub 2021 Jun 16
|
||
doi: 10.1177/11207000211025051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34134547" target="_blank">34134547</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36087118">Distraction osteogenesis at the proximal third of the ulna for the treatment of Masada type I/IIb deformities in children with hereditary multiple exostoses: a retrospective review of twenty cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu Y,
|
||
Canavese F,
|
||
Lin R,
|
||
Huang Y,
|
||
Wu X,
|
||
Lin B,
|
||
Chen S</span><br />
|
||
<span class="medgenPMjournal">Int Orthop</span>
|
||
2022 Dec;46(12):2877-2885.
|
||
Epub 2022 Sep 10
|
||
doi: 10.1007/s00264-022-05551-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36087118" target="_blank">36087118</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28826842">Retinoid roles and action in skeletal development and growth provide the rationale for an ongoing heterotopic ossification prevention trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pacifici M</span><br />
|
||
<span class="medgenPMjournal">Bone</span>
|
||
2018 Apr;109:267-275.
|
||
Epub 2017 Aug 19
|
||
doi: 10.1016/j.bone.2017.08.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28826842" target="_blank">28826842</a><a href="/pmc/articles/PMC8011837" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15115498">Vascular anomalies in Proteus syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoeger PH,
|
||
Martinez A,
|
||
Maerker J,
|
||
Harper JI</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Dermatol</span>
|
||
2004 May;29(3):222-30.
|
||
doi: 10.1111/j.1365-2230.2004.01513.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15115498" target="_blank">15115498</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exostoses%2C%20multiple%2C%20type%202%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36676722">Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ajmal M,
|
||
Muhammad H,
|
||
Nasir M,
|
||
Shoaib M,
|
||
Malik SA,
|
||
Ullah I</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2022 Dec 31;59(1)
|
||
doi: 10.3390/medicina59010100.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36676722" target="_blank">36676722</a><a href="/pmc/articles/PMC9863873" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33642092">Natural History and Characteristics of Hand Exostoses in Multiple Hereditary Exostoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Komura S,
|
||
Matsumoto K,
|
||
Hirakawa A,
|
||
Akiyama H</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2021 Sep;46(9):815.e1-815.e12.
|
||
Epub 2021 Feb 26
|
||
doi: 10.1016/j.jhsa.2020.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33642092" target="_blank">33642092</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28249791">An Evaluation of Forearm Deformities in Hereditary Multiple Exostoses: Factors Associated With Radial Head Dislocation and Comprehensive Classification.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jo AR,
|
||
Jung ST,
|
||
Kim MS,
|
||
Oh CS,
|
||
Min BJ</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2017 Apr;42(4):292.e1-292.e8.
|
||
Epub 2017 Feb 27
|
||
doi: 10.1016/j.jhsa.2017.01.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28249791" target="_blank">28249791</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24728384">A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tian C,
|
||
Yan R,
|
||
Wen S,
|
||
Li X,
|
||
Li T,
|
||
Cai Z,
|
||
Li X,
|
||
Du H,
|
||
Chen H</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2014;9(4):e94848.
|
||
Epub 2014 Apr 11
|
||
doi: 10.1371/journal.pone.0094848.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24728384" target="_blank">24728384</a><a href="/pmc/articles/PMC3984245" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5315768">Cloverleaf skull and thanatophoric dwarfism. Report of four cases, two in the same sibship.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Partington MW,
|
||
Gonzales-Crussi F,
|
||
Khakee SG,
|
||
Wollin DG</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
1971 Oct;46(249):656-64.
|
||
doi: 10.1136/adc.46.249.656.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5315768" target="_blank">5315768</a><a href="/pmc/articles/PMC1647817" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exostoses%2C%20multiple%2C%20type%202%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (16)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36676722">Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ajmal M,
|
||
Muhammad H,
|
||
Nasir M,
|
||
Shoaib M,
|
||
Malik SA,
|
||
Ullah I</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2022 Dec 31;59(1)
|
||
doi: 10.3390/medicina59010100.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36676722" target="_blank">36676722</a><a href="/pmc/articles/PMC9863873" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35112464">Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rydzanicz M,
|
||
Glinkowski W,
|
||
Walczak A,
|
||
Koppolu A,
|
||
Kostrzewa G,
|
||
Gasperowicz P,
|
||
Pollak A,
|
||
Stawiński P,
|
||
Płoski R</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 May;188(5):1482-1487.
|
||
Epub 2022 Feb 2
|
||
doi: 10.1002/ajmg.a.62670.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35112464" target="_blank">35112464</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33642092">Natural History and Characteristics of Hand Exostoses in Multiple Hereditary Exostoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Komura S,
|
||
Matsumoto K,
|
||
Hirakawa A,
|
||
Akiyama H</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2021 Sep;46(9):815.e1-815.e12.
|
||
Epub 2021 Feb 26
|
||
doi: 10.1016/j.jhsa.2020.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33642092" target="_blank">33642092</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32642853">An analysis of osteoporosis in patients with hereditary multiple exostoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matsumoto K,
|
||
Ogawa H,
|
||
Nozawa S,
|
||
Akiyama H</span><br />
|
||
<span class="medgenPMjournal">Osteoporos Int</span>
|
||
2020 Dec;31(12):2355-2361.
|
||
Epub 2020 Jul 8
|
||
doi: 10.1007/s00198-020-05533-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32642853" target="_blank">32642853</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15115498">Vascular anomalies in Proteus syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoeger PH,
|
||
Martinez A,
|
||
Maerker J,
|
||
Harper JI</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Dermatol</span>
|
||
2004 May;29(3):222-30.
|
||
doi: 10.1111/j.1365-2230.2004.01513.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15115498" target="_blank">15115498</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exostoses%2C%20multiple%2C%20type%202%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (25)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1851413%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (25)</a></li>
|
||
<li><a href="/gtr/tests?term=C1851413%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1851413%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1851413%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (25)</a></li>
|
||
<li><a href="/gtr/tests?term=C1851413%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (9)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1851413%5bDISCUI%5d" target="_blank">See all (31)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=133701" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Exostoses,%20multiple,%20type%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(exostoses%2C%20multiple%2C%20type%202)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=608210" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2132[geneid]" target="_blank">View EXT2 variations in ClinVar</a></li><li><a href="/nuccore/185135106" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=133701" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Exostoses%2C+Multiple%2C+Type+2/2676" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/exostoses_multiple_type_ii" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Exostoses,%20multiple,%20type%202" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/hereditary-multiple-osteochondromas" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/2205/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301413" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Exostoses,%20multiple,%20type%202" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Exostoses,%20multiple,%20type%202%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=377018" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=377018" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1851413[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1851413[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=377018" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=377018" ref="log$=recordlinks">NCBI Bookshelf</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=377018" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=377018" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=377018" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=377018" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=377018" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=377018" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=377018" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d43e3184f3725e5971caef">Exostoses, multiple, type 2</a>
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