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<meta name="keywords" content="C3151218, disease or syndrome, fkbp10, fkbp10 osteogenesis imperfecta, fkbp10-related osteogenesis imperfecta, oi type 11, oi type xi, oi, type 11, oi, type xi, oi11, osteogenesis imperfecta caused by mutation in fkbp10, osteogenesis imperfecta type 11, osteogenesis imperfecta type xi, osteogenesis imperfecta, type 11, osteogenesis imperfecta, type xi, 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="Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XI is an autosomal recessive form of OI (summary by Alanay et al., 2010)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Osteogenesis imperfecta type 11 (Concept Id: C3151218)
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<!--
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||
UID=462568
|
||
ConceptID=C3151218
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Osteogenesis imperfecta type 11<span class="h1sub">(OI11)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462568</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."><span class="highlight" style="background-color:">C3151218</span></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>FKBP10-Related Osteogenesis Imperfecta; OI, TYPE XI; Osteogenesis imperfecta, type XI</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="FKBP10 - ID: 60681 - NCBI Gene" href="/gene/60681" class="medgenPMinfo">FKBP10</a> (17q21.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012592" target="_blank">MONDO:0012592</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/610968" target="_blank">610968</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>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XI is an autosomal recessive form of OI (summary by Alanay et al., 2010). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Other types of osteogenesis imperfecta are more severe, causing frequent bone fractures that are present at birth and result from little or no trauma. Additional features of these types can include blue sclerae of the eyes, short stature, curvature of the spine (scoliosis), joint deformities (contractures), hearing loss, respiratory problems, and a disorder of tooth development called dentinogenesis imperfecta. Mobility can be reduced in affected individuals, and some may use a walker or wheelchair. The most severe forms of osteogenesis imperfecta, particularly type II, can include an abnormally small, fragile rib cage and underdeveloped lungs. Infants with these abnormalities may have life-threatening problems with breathing and can die shortly after birth.<br /><br />The milder forms of osteogenesis imperfecta, including type I, are characterized by bone fractures during childhood and adolescence that often result from minor trauma, such as falling while learning to walk. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and about half develop hearing loss in adulthood. Unlike more severely affected individuals, people with type I are usually of normal or near normal height.<br /><br />There are at least 19 recognized forms of osteogenesis imperfecta, designated type I through type XIX. Several types are distinguished by their signs and symptoms, although their characteristic features overlap. Increasingly, genetic causes are used to define rarer forms of osteogenesis imperfecta. Type I (also known as classic non-deforming osteogenesis imperfecta with blue sclerae) is the mildest form of osteogenesis imperfecta. Type II (also known as perinatally lethal osteogenesis imperfecta) is the most severe. Other types of this condition, including types III (progressively deforming osteogenesis imperfecta) and IV (common variable osteogenesis imperfecta with normal sclerae), have signs and symptoms that fall somewhere between these two extremes.<br /><br />Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break (fracture) easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime. <a target="_blank" href="https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta">https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta</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_98369"><div><strong>Protrusio acetabuli</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98369</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.">C0409495</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intrapelvic bulging of the medial acetabular wall.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98369">Feature record</a> | <a href="/medgen?term=%22Protrusio%20acetabuli%22%5BClinical%20Features%5D%20OR%2098369%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_235586"><div><strong>Hearing impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>235586</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.">C1384666</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased magnitude of the sensory perception of sound.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/235586">Feature record</a> | <a href="/medgen?term=%22Hearing%20impairment%22%5BClinical%20Features%5D%20OR%20235586%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8313"><div><strong>Dentinogenesis imperfecta</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8313</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.">C0011436</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental dysplasia of dentin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8313">Feature record</a> | <a href="/medgen?term=%22Dentinogenesis%20imperfecta%22%5BClinical%20Features%5D%20OR%208313%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42094"><div><strong>Recurrent fractures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42094</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.">C0016655</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Injury or Poisoning</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Recurrent%20fractures%22%5BClinical%20Features%5D%20OR%2042094%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18222"><div><strong>Osteopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18222</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.">C0029453</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18222">Feature record</a> | <a href="/medgen?term=%22Osteopenia%22%5BClinical%20Features%5D%20OR%2018222%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</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.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_113165"><div><strong>Brachycephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113165</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.">C0221356</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113165">Feature record</a> | <a href="/medgen?term=%22Brachycephaly%22%5BClinical%20Features%5D%20OR%20113165%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75497"><div><strong>Vertebral compression fracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75497</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.">C0262431</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75497">Feature record</a> | <a href="/medgen?term=%22Vertebral%20compression%20fracture%22%5BClinical%20Features%5D%20OR%2075497%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120495"><div><strong>Vertebral wedging</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120495</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.">C0264112</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120495">Feature record</a> | <a href="/medgen?term=%22Vertebral%20wedging%22%5BClinical%20Features%5D%20OR%20120495%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_154361"><div><strong>Kyphoscoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154361</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.">C0575158</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154361">Feature record</a> | <a href="/medgen?term=%22Kyphoscoliosis%22%5BClinical%20Features%5D%20OR%20154361%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_234655"><div><strong>Increased susceptibility to fractures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>234655</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.">C1390474</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/234655">Feature record</a> | <a href="/medgen?term=%22Increased%20susceptibility%20to%20fractures%22%5BClinical%20Features%5D%20OR%20234655%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336793"><div><strong>Joint hypermobility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336793</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.">C1844820</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336793">Feature record</a> | <a href="/medgen?term=%22Joint%20hypermobility%22%5BClinical%20Features%5D%20OR%20336793%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_383834"><div><strong>Biconcave vertebral bodies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383834</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.">C1856087</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383834">Feature record</a> | <a href="/medgen?term=%22Biconcave%20vertebral%20bodies%22%5BClinical%20Features%5D%20OR%20383834%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_766814"><div><strong>Wormian bones</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766814</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.">C3553900</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766814">Feature record</a> | <a href="/medgen?term=%22Wormian%20bones%22%5BClinical%20Features%5D%20OR%20766814%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_727252"><div><strong>Elevated circulating alkaline phosphatase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>727252</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.">C1314665</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased serum levels of alkaline phosphatase activity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/727252">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20alkaline%20phosphatase%20concentration%22%5BClinical%20Features%5D%20OR%20727252%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324383"><div><strong>Triangular face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324383</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.">C1835884</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324383">Feature record</a> | <a href="/medgen?term=%22Triangular%20face%22%5BClinical%20Features%5D%20OR%20324383%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1845238"><div><strong>Abnormality of the skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1845238</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.">C5848159</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1845238">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20skin%22%5BClinical%20Features%5D%20OR%201845238%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_154236"><div><strong>Blue sclerae</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154236</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.">C0542514</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal bluish coloration of the sclera.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154236">Feature record</a> | <a href="/medgen?term=%22Blue%20sclerae%22%5BClinical%20Features%5D%20OR%20154236%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324383" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Triangular face</a></span></li></ul></li><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_98369" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Protrusio acetabuli</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_727252" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating alkaline phosphatase concentration</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_154236" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blue sclerae</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1845238" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the skin</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_383834" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Biconcave vertebral bodies</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113165" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachycephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8313" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dentinogenesis imperfecta</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_234655" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased susceptibility to fractures</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint hypermobility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_154361" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kyphoscoliosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteopenia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42094" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent fractures</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertebral compression fracture</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120495" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertebral wedging</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_766814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wormian bones</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_235586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hearing impairment</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></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=C0029434[DISCUI]&test_type=Clinical" ref="ncbi_uid=45246">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=45246" target="_blank" href="/omim/120150">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1295/" ref="ncbi_uid=45246">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=45246" ref="ncbi_uid=45246">V</a></span></span><span class="TLline"><a href="/medgen/45246" ref="tree=GTR&ncbi_uid=45246&link_uid=45246" title="View MedGen record for 'Osteogenesis imperfecta'">Osteogenesis imperfecta</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931093[DISCUI]&test_type=Clinical" ref="ncbi_uid=419332">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419332" target="_blank" href="/omim/610967">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419332" ref="ncbi_uid=419332">V</a></span></span><span class="TLline"><a href="/medgen/419332" ref="tree=GTR&ncbi_uid=419332&link_uid=419332" title="View MedGen record for 'Osteogenesis imperfecta type 5'">Osteogenesis imperfecta type 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3279564[DISCUI]&test_type=Clinical" ref="ncbi_uid=481194">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481194" target="_blank" href="/omim/172860">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481194" ref="ncbi_uid=481194">V</a></span></span><span class="TLline"><a href="/medgen/481194" ref="tree=GTR&ncbi_uid=481194&link_uid=481194" title="View MedGen record for 'Osteogenesis imperfecta type 6'">Osteogenesis imperfecta type 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853162[DISCUI]&test_type=Clinical" ref="ncbi_uid=343981">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343981" target="_blank" href="/omim/605497">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343981" ref="ncbi_uid=343981">V</a></span></span><span class="TLline"><a href="/medgen/343981" ref="tree=GTR&ncbi_uid=343981&link_uid=343981" title="View MedGen record for 'Osteogenesis imperfecta type 7'">Osteogenesis imperfecta type 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1970458[DISCUI]&test_type=Clinical" ref="ncbi_uid=410075">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=410075" target="_blank" href="/omim/610339">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=410075" ref="ncbi_uid=410075">V</a></span></span><span class="TLline"><a href="/medgen/410075" ref="tree=GTR&ncbi_uid=410075&link_uid=410075" title="View MedGen record for 'Osteogenesis imperfecta type 8'">Osteogenesis imperfecta type 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850169[DISCUI]&test_type=Clinical" ref="ncbi_uid=376720">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=376720" target="_blank" href="/omim/123841">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=376720" ref="ncbi_uid=376720">V</a></span></span><span class="TLline"><a href="/medgen/376720" ref="tree=GTR&ncbi_uid=376720&link_uid=376720" title="View MedGen record for 'Osteogenesis imperfecta type 9'">Osteogenesis imperfecta type 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151211[DISCUI]&test_type=Clinical" ref="ncbi_uid=462561">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462561" target="_blank" href="/omim/600943">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462561" ref="ncbi_uid=462561">V</a></span></span><span class="TLline"><a href="/medgen/462561" ref="tree=GTR&ncbi_uid=462561&link_uid=462561" title="View MedGen record for 'Osteogenesis imperfecta type 10'">Osteogenesis imperfecta type 10</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151218[DISCUI]&test_type=Clinical" ref="ncbi_uid=462568">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462568" target="_blank" href="/omim/607063">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462568" ref="ncbi_uid=462568">V</a></span></span><span class="TLline">Osteogenesis imperfecta type 11</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151433[DISCUI]&test_type=Clinical" ref="ncbi_uid=462783">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462783" target="_blank" href="/omim/606633">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462783" ref="ncbi_uid=462783">V</a></span></span><span class="TLline"><a href="/medgen/462783" ref="tree=GTR&ncbi_uid=462783&link_uid=462783" title="View MedGen record for 'Osteogenesis imperfecta type 12'">Osteogenesis imperfecta type 12</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3553887[DISCUI]&test_type=Clinical" ref="ncbi_uid=766801">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=766801" target="_blank" href="/omim/112264">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=766801" ref="ncbi_uid=766801">V</a></span></span><span class="TLline"><a href="/medgen/766801" ref="tree=GTR&ncbi_uid=766801&link_uid=766801" title="View MedGen record for 'Osteogenesis imperfecta type 13'">Osteogenesis imperfecta type 13</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3554428[DISCUI]&test_type=Clinical" ref="ncbi_uid=767342">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=767342" target="_blank" href="/omim/611236">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=767342" ref="ncbi_uid=767342">V</a></span></span><span class="TLline"><a href="/medgen/767342" ref="tree=GTR&ncbi_uid=767342&link_uid=767342" title="View MedGen record for 'Osteogenesis imperfecta type 14'">Osteogenesis imperfecta type 14</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3808844[DISCUI]&test_type=Clinical" ref="ncbi_uid=815174">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815174" target="_blank" href="/omim/164820">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815174" ref="ncbi_uid=815174">V</a></span></span><span class="TLline"><a href="/medgen/815174" ref="tree=GTR&ncbi_uid=815174&link_uid=815174" title="View MedGen record for 'Osteogenesis imperfecta type 15'">Osteogenesis imperfecta type 15</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4015610[DISCUI]&test_type=Clinical" ref="ncbi_uid=864047">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=864047" target="_blank" href="/omim/616215">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=864047" ref="ncbi_uid=864047">V</a></span></span><span class="TLline"><a href="/medgen/864047" ref="tree=GTR&ncbi_uid=864047&link_uid=864047" title="View MedGen record for 'Osteogenesis imperfecta type 16'">Osteogenesis imperfecta type 16</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4225301[DISCUI]&test_type=Clinical" ref="ncbi_uid=903845">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=903845" target="_blank" href="/omim/182120">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=903845" ref="ncbi_uid=903845">V</a></span></span><span class="TLline"><a href="/medgen/903845" ref="tree=GTR&ncbi_uid=903845&link_uid=903845" title="View MedGen record for 'Osteogenesis imperfecta type 17'">Osteogenesis imperfecta type 17</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0023931[DISCUI]&test_type=Clinical" ref="ncbi_uid=9799">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=9799" target="_blank" href="/omim/120150">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1295/" ref="ncbi_uid=9799">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=9799" ref="ncbi_uid=9799">V</a></span></span><span class="TLline"><a href="/medgen/9799" ref="tree=GTR&ncbi_uid=9799&link_uid=9799" title="View MedGen record for 'Osteogenesis imperfecta type I'">Osteogenesis imperfecta type I</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268362[DISCUI]&test_type=Clinical" ref="ncbi_uid=78664">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78664" target="_blank" href="/omim/120150">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1295/" ref="ncbi_uid=78664">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78664" ref="ncbi_uid=78664">V</a></span></span><span class="TLline"><a href="/medgen/78664" ref="tree=GTR&ncbi_uid=78664&link_uid=78664" title="View MedGen record for 'Osteogenesis imperfecta type III'">Osteogenesis imperfecta type III</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268363[DISCUI]&test_type=Clinical" ref="ncbi_uid=78665">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78665" target="_blank" href="/omim/120150">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1295/" ref="ncbi_uid=78665">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78665" ref="ncbi_uid=78665">V</a></span></span><span class="TLline"><a href="/medgen/78665" ref="tree=GTR&ncbi_uid=78665&link_uid=78665" title="View MedGen record for 'Osteogenesis imperfecta with normal sclerae, dominant form'">Osteogenesis imperfecta with normal sclerae, dominant form</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5676943[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1801631">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1801631" target="_blank" href="/omim/618788">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1801631" ref="ncbi_uid=1801631">V</a></span></span><span class="TLline"><a href="/medgen/1801631" ref="tree=GTR&ncbi_uid=1801631&link_uid=1801631" title="View MedGen record for 'Osteogenesis imperfecta, IIA 22'">Osteogenesis imperfecta, IIA 22</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268358[DISCUI]&test_type=Clinical" ref="ncbi_uid=75673">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75673" target="_blank" href="/omim/120150">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1295/" ref="ncbi_uid=75673">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75673" ref="ncbi_uid=75673">V</a></span></span><span class="TLline"><a href="/medgen/75673" ref="tree=GTR&ncbi_uid=75673&link_uid=75673" title="View MedGen record for 'Osteogenesis imperfecta, perinatal lethal'">Osteogenesis imperfecta, perinatal lethal</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4693736[DISCUI]&test_type=Clinical" ref="ncbi_uid=1635201">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1635201" target="_blank" href="/omim/611357">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1635201" ref="ncbi_uid=1635201">V</a></span></span><span class="TLline"><a href="/medgen/1635201" ref="tree=GTR&ncbi_uid=1635201&link_uid=1635201" title="View MedGen record for 'Osteogenesis imperfecta, type 18'">Osteogenesis imperfecta, type 18</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4746956[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648353">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648353" target="_blank" href="/omim/300294">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648353" ref="ncbi_uid=1648353">V</a></span></span><span class="TLline"><a href="/medgen/1648353" ref="tree=GTR&ncbi_uid=1648353&link_uid=1648353" title="View MedGen record for 'Osteogenesis imperfecta, type 19'">Osteogenesis imperfecta, type 19</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5231439[DISCUI]&test_type=Clinical" ref="ncbi_uid=1684751">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1684751" target="_blank" href="/omim/607783">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1684751" ref="ncbi_uid=1684751">V</a></span></span><span class="TLline"><a href="/medgen/1684751" ref="tree=GTR&ncbi_uid=1684751&link_uid=1684751" title="View MedGen record for 'Osteogenesis imperfecta, type 20'">Osteogenesis imperfecta, type 20</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5436875[DISCUI]&test_type=Clinical" ref="ncbi_uid=1723598">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1723598" target="_blank" href="/omim/609024">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1723598" ref="ncbi_uid=1723598">V</a></span></span><span class="TLline"><a href="/medgen/1723598" ref="tree=GTR&ncbi_uid=1723598&link_uid=1723598" title="View MedGen record for 'Osteogenesis imperfecta, type 21'">Osteogenesis imperfecta, type 21</a></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=1846121" target="_blank" href="/omim/612834">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1846121" ref="ncbi_uid=1846121">V</a></span></span><span class="TLline"><a href="/medgen/1846121" ref="tree=GTR&ncbi_uid=1846121&link_uid=1846121" title="View MedGen record for 'Osteogenesis imperfecta, type 23'">Osteogenesis imperfecta, type 23</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/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/272508" ref="tree=MeSH" title="MedGen record for Connective and Soft Tissue Disorder">Connective and Soft Tissue Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/1098" ref="tree=MeSH" title="MedGen record for Connective tissue disorder">Connective tissue disorder</a></span><ul><li><span class="TLline"><a href="/medgen/473110" ref="tree=MeSH" title="MedGen record for Hereditary disorder of connective tissue">Hereditary disorder of connective tissue</a></span><ul><li><span class="TLline"><a href="/medgen/396965" ref="tree=MeSH" title="MedGen record for COL1A1 Associated Connective Tissue Disorder">COL1A1 Associated Connective Tissue Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/45246" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta">Osteogenesis imperfecta</a></span><ul><li><span class="matched_ds">Osteogenesis imperfecta type 11</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/36339400">Cardiovascular abnormalities and its correlation with genotypes of children with osteogenesis imperfecta.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhao D,
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Liu Y,
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Liu J,
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Hu J,
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Zhang Q,
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Wang O,
|
||
Jiang Y,
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||
Xia W,
|
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Xing X,
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Li M</span><br />
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<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
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2022;13:1004946.
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Epub 2022 Oct 20
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doi: 10.3389/fendo.2022.1004946.
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<span class="bold">PMID: </span><a href="/pubmed/36339400" target="_blank">36339400</a><a href="/pmc/articles/PMC9632612" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33526985">Incidence and treatment of adult femoral fractures with osteogenesis imperfecta: An analysis of a center of 72 patients in Taiwan.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lee CL,
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Liu SC,
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||
Yang CY,
|
||
Chuang CK,
|
||
Lin HY,
|
||
Lin SP</span><br />
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<span class="medgenPMjournal">Int J Med Sci</span>
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2021;18(5):1240-1246.
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Epub 2021 Jan 14
|
||
doi: 10.7150/ijms.53286.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33526985" target="_blank">33526985</a><a href="/pmc/articles/PMC7847618" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29388328">Genotype and malocclusion in patients with osteogenesis imperfecta.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jabbour Z,
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Al-Khateeb A,
|
||
Eimar H,
|
||
Retrouvey JM,
|
||
Rizkallah J,
|
||
Glorieux FH,
|
||
Rauch F,
|
||
Tamimi F</span><br />
|
||
<span class="medgenPMjournal">Orthod Craniofac Res</span>
|
||
2018 May;21(2):71-77.
|
||
Epub 2018 Feb 1
|
||
doi: 10.1111/ocr.12218.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29388328" target="_blank">29388328</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(osteogenesis%20imperfecta%20type%2011)%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 (26)</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/39012717">Setrusumab for the treatment of osteogenesis imperfecta: 12-month results from the phase 2b asteroid study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glorieux FH,
|
||
Langdahl B,
|
||
Chapurlat R,
|
||
De Beur SJ,
|
||
Sutton VR,
|
||
Poole KES,
|
||
Dahir KM,
|
||
Orwoll ES,
|
||
Willie BM,
|
||
Mikolajewicz N,
|
||
Zimmermann E,
|
||
Hosseinitabatabaei S,
|
||
Ominsky MS,
|
||
Saville C,
|
||
Clancy J,
|
||
MacKinnon A,
|
||
Mistry A,
|
||
Javaid MK</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2024 Sep 2;39(9):1215-1228.
|
||
doi: 10.1093/jbmr/zjae112.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39012717" target="_blank">39012717</a><a href="/pmc/articles/PMC11371902" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38003005">A Sporadic Case of COL1A1 Osteogenesis Imperfecta: From Prenatal Diagnosis to Outcomes in Infancy-Case Report and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vankevičienė K,
|
||
Matulevičienė A,
|
||
Mazgelytė E,
|
||
Paliulytė V,
|
||
Vankevičienė R,
|
||
Ramašauskaitė D</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Nov 10;14(11)
|
||
doi: 10.3390/genes14112062.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38003005" target="_blank">38003005</a><a href="/pmc/articles/PMC10671798" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37967934">Monochorionic twin pregnancy in a patient with type III osteogenesis imperfecta: a multidisciplinary challenge.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee KW,
|
||
Mok MUS,
|
||
Chai HZ,
|
||
Yang L</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2023 Nov 15;16(11)
|
||
doi: 10.1136/bcr-2023-255738.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37967934" target="_blank">37967934</a><a href="/pmc/articles/PMC10660905" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34350492">Craniocervical abnormalities in osteogenesis imperfecta type V.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ludwig K,
|
||
Seiltgens C,
|
||
Ibba A,
|
||
Saran N,
|
||
Ouellet JA,
|
||
Glorieux F,
|
||
Rauch F</span><br />
|
||
<span class="medgenPMjournal">Osteoporos Int</span>
|
||
2022 Jan;33(1):177-183.
|
||
Epub 2021 Aug 5
|
||
doi: 10.1007/s00198-021-06088-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34350492" target="_blank">34350492</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34680126">Osteogenesis Imperfecta: Current and Prospective Therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Botor M,
|
||
Fus-Kujawa A,
|
||
Uroczynska M,
|
||
Stepien KL,
|
||
Galicka A,
|
||
Gawron K,
|
||
Sieron AL</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2021 Oct 10;11(10)
|
||
doi: 10.3390/biom11101493.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34680126" target="_blank">34680126</a><a href="/pmc/articles/PMC8533546" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteogenesis%20imperfecta%20type%2011%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 (125)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39012717">Setrusumab for the treatment of osteogenesis imperfecta: 12-month results from the phase 2b asteroid study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glorieux FH,
|
||
Langdahl B,
|
||
Chapurlat R,
|
||
De Beur SJ,
|
||
Sutton VR,
|
||
Poole KES,
|
||
Dahir KM,
|
||
Orwoll ES,
|
||
Willie BM,
|
||
Mikolajewicz N,
|
||
Zimmermann E,
|
||
Hosseinitabatabaei S,
|
||
Ominsky MS,
|
||
Saville C,
|
||
Clancy J,
|
||
MacKinnon A,
|
||
Mistry A,
|
||
Javaid MK</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2024 Sep 2;39(9):1215-1228.
|
||
doi: 10.1093/jbmr/zjae112.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39012717" target="_blank">39012717</a><a href="/pmc/articles/PMC11371902" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34519823">Osteogenesis Imperfecta: The Impact of Genotype and Clinical Phenotype on Adiposity and Resting Energy Expenditure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ballenger KL,
|
||
Tugarinov N,
|
||
Talvacchio SK,
|
||
Knue MM,
|
||
Dang Do AN,
|
||
Ahlman MA,
|
||
Reynolds JC,
|
||
Yanovski JA,
|
||
Marini JC</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 Jan 1;107(1):67-76.
|
||
doi: 10.1210/clinem/dgab679.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34519823" target="_blank">34519823</a><a href="/pmc/articles/PMC8684495" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34350492">Craniocervical abnormalities in osteogenesis imperfecta type V.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ludwig K,
|
||
Seiltgens C,
|
||
Ibba A,
|
||
Saran N,
|
||
Ouellet JA,
|
||
Glorieux F,
|
||
Rauch F</span><br />
|
||
<span class="medgenPMjournal">Osteoporos Int</span>
|
||
2022 Jan;33(1):177-183.
|
||
Epub 2021 Aug 5
|
||
doi: 10.1007/s00198-021-06088-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34350492" target="_blank">34350492</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31039433">Mendelian bone fragility disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Robinson ME,
|
||
Rauch F</span><br />
|
||
<span class="medgenPMjournal">Bone</span>
|
||
2019 Sep;126:11-17.
|
||
Epub 2019 Apr 27
|
||
doi: 10.1016/j.bone.2019.04.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31039433" target="_blank">31039433</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27509835">DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bardai G,
|
||
Moffatt P,
|
||
Glorieux FH,
|
||
Rauch F</span><br />
|
||
<span class="medgenPMjournal">Osteoporos Int</span>
|
||
2016 Dec;27(12):3607-3613.
|
||
Epub 2016 Aug 11
|
||
doi: 10.1007/s00198-016-3709-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27509835" target="_blank">27509835</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteogenesis%20imperfecta%20type%2011%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 (124)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39012717">Setrusumab for the treatment of osteogenesis imperfecta: 12-month results from the phase 2b asteroid study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glorieux FH,
|
||
Langdahl B,
|
||
Chapurlat R,
|
||
De Beur SJ,
|
||
Sutton VR,
|
||
Poole KES,
|
||
Dahir KM,
|
||
Orwoll ES,
|
||
Willie BM,
|
||
Mikolajewicz N,
|
||
Zimmermann E,
|
||
Hosseinitabatabaei S,
|
||
Ominsky MS,
|
||
Saville C,
|
||
Clancy J,
|
||
MacKinnon A,
|
||
Mistry A,
|
||
Javaid MK</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2024 Sep 2;39(9):1215-1228.
|
||
doi: 10.1093/jbmr/zjae112.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39012717" target="_blank">39012717</a><a href="/pmc/articles/PMC11371902" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34988594">Specific Characteristic of Hyperplastic Callus in a Larger Cohort of Osteogenesis Imperfecta Type V.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zheng WB,
|
||
Hu J,
|
||
Zhang J,
|
||
Yang Z,
|
||
Wang O,
|
||
Jiang Y,
|
||
Xia WB,
|
||
Xing XP,
|
||
Yu W,
|
||
Li M</span><br />
|
||
<span class="medgenPMjournal">Calcif Tissue Int</span>
|
||
2022 Apr;110(4):451-463.
|
||
Epub 2022 Jan 6
|
||
doi: 10.1007/s00223-021-00932-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34988594" target="_blank">34988594</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34677656">Pamidronate Therapy Increases Trabecular Bone Complexity of Mandibular Condyles in Individuals with Osteogenesis Imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pantoja LLQ,
|
||
Lustosa M,
|
||
Yamaguti PM,
|
||
Rosa LS,
|
||
Leite AF,
|
||
Figueiredo PTS,
|
||
Castro LC,
|
||
Acevedo AC</span><br />
|
||
<span class="medgenPMjournal">Calcif Tissue Int</span>
|
||
2022 Mar;110(3):303-312.
|
||
Epub 2021 Oct 22
|
||
doi: 10.1007/s00223-021-00915-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34677656" target="_blank">34677656</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28894358">Therapy with pamidronate in children with osteogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marginean O,
|
||
Tamasanu RC,
|
||
Mang N,
|
||
Mozos I,
|
||
Brad GF</span><br />
|
||
<span class="medgenPMjournal">Drug Des Devel Ther</span>
|
||
2017;11:2507-2515.
|
||
Epub 2017 Aug 28
|
||
doi: 10.2147/DDDT.S141075.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28894358" target="_blank">28894358</a><a href="/pmc/articles/PMC5584887" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28019684">Diaphyseal Femur Fractures in Osteogenesis Imperfecta: Characteristics and Relationship With Bisphosphonate Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trejo P,
|
||
Fassier F,
|
||
Glorieux FH,
|
||
Rauch F</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2017 May;32(5):1034-1039.
|
||
Epub 2017 Feb 28
|
||
doi: 10.1002/jbmr.3071.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28019684" target="_blank">28019684</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteogenesis%20imperfecta%20type%2011%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 (60)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37934770">Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marom R,
|
||
Zhang B,
|
||
Washington ME,
|
||
Song IW,
|
||
Burrage LC,
|
||
Rossi VC,
|
||
Berrier AS,
|
||
Lindsey A,
|
||
Lesinski J,
|
||
Nonet ML,
|
||
Chen J,
|
||
Baldridge D,
|
||
Silverman GA,
|
||
Sutton VR,
|
||
Rosenfeld JA,
|
||
Tran AA,
|
||
Hicks MJ,
|
||
Murdock DR,
|
||
Dai H,
|
||
Weis M,
|
||
Jhangiani SN,
|
||
Muzny DM,
|
||
Gibbs RA,
|
||
Caswell R,
|
||
Pottinger C,
|
||
Cilliers D,
|
||
Stals K;
|
||
Undiagnosed Diseases Network,
|
||
Eyre D,
|
||
Krakow D,
|
||
Schedl T,
|
||
Pak SC,
|
||
Lee BH</span><br />
|
||
<span class="medgenPMjournal">PLoS Genet</span>
|
||
2023 Nov;19(11):e1011005.
|
||
Epub 2023 Nov 7
|
||
doi: 10.1371/journal.pgen.1011005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37934770" target="_blank">37934770</a><a href="/pmc/articles/PMC10656020" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37839784">Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Travessa AM,
|
||
Dias P,
|
||
Rosmaninho-Salgado J,
|
||
Aza-Carmona M,
|
||
Moldovan O,
|
||
Díaz-González F,
|
||
Godinho F,
|
||
Romeu JC,
|
||
Oliveira-Ramos F,
|
||
do Céu Barreiros M,
|
||
Sousa SB,
|
||
Heath KE,
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Sousa AB</span><br />
|
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|
||
2023 Nov;66(11):104867.
|
||
Epub 2023 Oct 13
|
||
doi: 10.1016/j.ejmg.2023.104867.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37839784" target="_blank">37839784</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36727836">Dental Implants in Patients with Osteogenesis Imperfecta - Clinical and Radiographic Outcome in Six Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fogh FM,
|
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Jensen SS,
|
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Kofod T,
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2023 Feb 2;21:33-40.
|
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doi: 10.3290/j.ohpd.b3858615.
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<span class="bold">PMID: </span><a href="/pubmed/36727836" target="_blank">36727836</a><a href="/pmc/articles/PMC11619852" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/33526985">Incidence and treatment of adult femoral fractures with osteogenesis imperfecta: An analysis of a center of 72 patients in Taiwan.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Lee CL,
|
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Liu SC,
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Yang CY,
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Chuang CK,
|
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Lin HY,
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Lin SP</span><br />
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<span class="medgenPMjournal">Int J Med Sci</span>
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2021;18(5):1240-1246.
|
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Epub 2021 Jan 14
|
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|
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<span class="bold">PMID: </span><a href="/pubmed/33526985" target="_blank">33526985</a><a href="/pmc/articles/PMC7847618" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7896347">Osteogenesis imperfecta type II in one of a pair of twins.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gupta G,
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Kumar P,
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Narang A</span><br />
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1994 Nov;31(11):1420-3.
|
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<span class="bold">PMID: </span><a href="/pubmed/7896347" target="_blank">7896347</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteogenesis%20imperfecta%20type%2011%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 (54)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37934770">Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marom R,
|
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Zhang B,
|
||
Washington ME,
|
||
Song IW,
|
||
Burrage LC,
|
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Rossi VC,
|
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Berrier AS,
|
||
Lindsey A,
|
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Lesinski J,
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Nonet ML,
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Chen J,
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Baldridge D,
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Silverman GA,
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Sutton VR,
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Rosenfeld JA,
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Tran AA,
|
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Hicks MJ,
|
||
Murdock DR,
|
||
Dai H,
|
||
Weis M,
|
||
Jhangiani SN,
|
||
Muzny DM,
|
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Gibbs RA,
|
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Caswell R,
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Pottinger C,
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Cilliers D,
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Stals K;
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Undiagnosed Diseases Network,
|
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Eyre D,
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Krakow D,
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Schedl T,
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Pak SC,
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Lee BH</span><br />
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<span class="medgenPMjournal">PLoS Genet</span>
|
||
2023 Nov;19(11):e1011005.
|
||
Epub 2023 Nov 7
|
||
doi: 10.1371/journal.pgen.1011005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37934770" target="_blank">37934770</a><a href="/pmc/articles/PMC10656020" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37758163">Combination of osteogenesis imperfecta and hypophosphatasia in three children with multiple fractures, low bone mass and severe osteomalacia, a challenge for therapeutic management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fratzl-Zelman N,
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Linglart A,
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Bin K,
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Rauch F,
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Blouin S,
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Coutant R,
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Donzeau A</span><br />
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<span class="medgenPMjournal">Eur J Med Genet</span>
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2023 Nov;66(11):104856.
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||
Epub 2023 Sep 25
|
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doi: 10.1016/j.ejmg.2023.104856.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37758163" target="_blank">37758163</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36339400">Cardiovascular abnormalities and its correlation with genotypes of children with osteogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao D,
|
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Liu Y,
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Liu J,
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Hu J,
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Zhang Q,
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Wang O,
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Jiang Y,
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Xia W,
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Xing X,
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Li M</span><br />
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<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
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2022;13:1004946.
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||
Epub 2022 Oct 20
|
||
doi: 10.3389/fendo.2022.1004946.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36339400" target="_blank">36339400</a><a href="/pmc/articles/PMC9632612" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29388328">Genotype and malocclusion in patients with osteogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jabbour Z,
|
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Al-Khateeb A,
|
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Eimar H,
|
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Retrouvey JM,
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Rizkallah J,
|
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Glorieux FH,
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Rauch F,
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Tamimi F</span><br />
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<span class="medgenPMjournal">Orthod Craniofac Res</span>
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||
2018 May;21(2):71-77.
|
||
Epub 2018 Feb 1
|
||
doi: 10.1111/ocr.12218.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29388328" target="_blank">29388328</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27509835">DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bardai G,
|
||
Moffatt P,
|
||
Glorieux FH,
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||
Rauch F</span><br />
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<span class="medgenPMjournal">Osteoporos Int</span>
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||
2016 Dec;27(12):3607-3613.
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||
Epub 2016 Aug 11
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||
doi: 10.1007/s00198-016-3709-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27509835" target="_blank">27509835</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteogenesis%20imperfecta%20type%2011%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 (108)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/30343446">An update on the role of RANKL-RANK/osteoprotegerin and WNT-ß-catenin signaling pathways in pediatric diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brunetti G,
|
||
D'Amato G,
|
||
Chiarito M,
|
||
Tullo A,
|
||
Colaianni G,
|
||
Colucci S,
|
||
Grano M,
|
||
Faienza MF</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr</span>
|
||
2019 Feb;15(1):4-11.
|
||
Epub 2018 Oct 20
|
||
doi: 10.1007/s12519-018-0198-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30343446" target="_blank">30343446</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25768935">Pharmacological interventions for pain in children and adolescents with life-limiting conditions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beecham E,
|
||
Candy B,
|
||
Howard R,
|
||
McCulloch R,
|
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Laddie J,
|
||
Rees H,
|
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Vickerstaff V,
|
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Bluebond-Langner M,
|
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Jones L</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2015 Mar 13;2015(3):CD010750.
|
||
doi: 10.1002/14651858.CD010750.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25768935" target="_blank">25768935</a><a href="/pmc/articles/PMC6481584" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19087101">Effects of bisphosphonates in children with osteogenesis imperfecta: an AACPDM systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castillo H,
|
||
Samson-Fang L;
|
||
American Academy for Cerebral Palsy and Developmental Medicine Treatment Outcomes Committee Review Panel</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2009 Jan;51(1):17-29.
|
||
doi: 10.1111/j.1469-8749.2008.03222.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19087101" target="_blank">19087101</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteogenesis%20imperfecta%20type%2011%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
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|
||
<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 -->
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<div class="portlet mgSection" id="ID_113">
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<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>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<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>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3151218%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (25)</a></li>
|
||
<li><a href="/gtr/tests?term=C3151218%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (36)</a></li>
|
||
<li><a href="/gtr/tests?term=C3151218%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (11)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3151218%5bDISCUI%5d" target="_blank">See all (41)</a></total></li>
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<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>
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<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=610968" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Osteogenesis%20imperfecta%20type%2011" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
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<div class="portlet mgSection" id="ID_121">
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<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>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(osteogenesis%20imperfecta%20type%2011)%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>
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|
||
<div class="portlet mgSection" id="ID_115">
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<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>
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||
<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=607063" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=60681[geneid]" target="_blank">View FKBP10 variations in ClinVar</a></li><li><a href="/nuccore/268370134" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=610968" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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||
</div>
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|
||
<div class="portlet mgSection" id="ID_116">
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<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>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/osteogenesis_imperfecta_type_xi_2" target="_blank">MalaCards</a></li><li><a href="https://www.malacards.org/card/osteogenesis_imperfecta_type_xii_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Osteogenesis%20imperfecta%20type%2011" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/12875/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
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|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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<h3>Reviews</h3>
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</div>
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<div class="portlet_content">
|
||
<ul>
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||
<li>
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||
<a href="/pubmed/clinical?term=Osteogenesis%20imperfecta%20type%2011" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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||
</li>
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||
<li>
|
||
<a href="/pubmed?term=Osteogenesis%20imperfecta%20type%2011%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
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<!-- MedGen supplemental column ends here -->
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<div class="portlet brieflink">
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||
<div class="portlet_head">
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||
<div class="portlet_title">
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||
<h3>Related information</h3>
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<div class="portlet_content DiscoveryDbLinks">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=462568" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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Clear
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb5b2cf4a390645e6940bf">Osteogenesis imperfecta type 11</a>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cb5b2bb15b832ebc331013">C3151218[conceptid] <span class="number">(1)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cb5b2a84f3725e5965016a">C3151211[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(60)</span></a>
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<div class="ralinkpop offscreen_noflow">C3151211[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cb5b29a68b6b5afca2e99d">Osteogenesis imperfecta type 10</a>
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<div class="ralinkpop offscreen_noflow">Osteogenesis imperfecta type 10<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cb5b28a68b6b5afca2e087">C3151211[conceptid] <span class="number">(1)</span></a>
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