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<meta name="keywords" content="C4023165, abnormal skeletal morphology, abnormality of skeletal morphology, abnormally shaped skeletal, anatomical abnormality, 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="An abnormality of the form, structure, or size of the skeletal system." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=868760
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ConceptID=C4023165
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal skeletal morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868760</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:">C4023165</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Abnormality of skeletal morphology</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0011842">HP:0011842</a></td></tr>
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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">An abnormality of the form, structure, or size of the skeletal system. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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||
<div class="portlet mgSection" id="ID_118">
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<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>
|
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<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="matched_ds"><span class="TLline">Abnormal skeletal morphology</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867418" ref="tree=MeSH" title="MedGen record for Abnormality of the skeletal system">Abnormality of the skeletal system</a></span><ul><li><span class="matched_ds">Abnormal skeletal morphology</span><ul><li><span class="TLline"><a href="/medgen/868758" ref="tree=MeSH" title="MedGen record for Abnormal appendicular skeleton morphology">Abnormal appendicular skeleton morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866811" ref="tree=MeSH" title="MedGen record for Abnormal long bone morphology">Abnormal long bone morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867416" ref="tree=MeSH" title="MedGen record for Abnormal diaphysis morphology">Abnormal diaphysis morphology</a></span></li><li><span class="TLline"><a href="/medgen/867251" ref="tree=MeSH" title="MedGen record for Abnormal epiphysis morphology">Abnormal epiphysis morphology</a></span></li><li><span class="TLline"><a href="/medgen/871326" ref="tree=MeSH" title="MedGen record for Abnormal metaphysis morphology">Abnormal metaphysis morphology</a></span></li><li><span class="TLline"><a href="/medgen/1842053" ref="tree=MeSH" title="MedGen record for Bent long bone">Bent long bone</a></span></li><li><span class="TLline"><a href="/medgen/1863519" ref="tree=MeSH" title="MedGen record for Bowdler spurs">Bowdler spurs</a></span></li><li><span class="TLline"><a href="/medgen/867270" ref="tree=MeSH" title="MedGen record for Broad long bones">Broad long bones</a></span></li><li><span class="TLline"><a href="/medgen/370928" ref="tree=MeSH" title="MedGen record for Crumpled long bones">Crumpled long bones</a></span></li><li><span class="TLline"><a href="/medgen/340289" ref="tree=MeSH" title="MedGen record for Increased density of long bones">Increased density of long bones</a></span></li><li><span class="TLline"><a href="/medgen/460981" ref="tree=MeSH" title="MedGen record for Melorheostosis">Melorheostosis</a></span></li><li><span class="TLline"><a href="/medgen/338539" ref="tree=MeSH" title="MedGen record for Overtubulated long bones">Overtubulated long bones</a></span></li><li><span class="TLline"><a href="/medgen/10721" ref="tree=MeSH" title="MedGen record for Phocomelia">Phocomelia</a></span></li><li><span class="TLline"><a href="/medgen/342003" ref="tree=MeSH" title="MedGen record for Protuberances at ends of long bones">Protuberances at ends of long bones</a></span></li><li><span class="TLline"><a href="/medgen/46175" ref="tree=MeSH" title="MedGen record for Pseudoarthrosis">Pseudoarthrosis</a></span></li><li><span class="TLline"><a href="/medgen/344385" ref="tree=MeSH" title="MedGen record for Short long bone">Short long bone</a></span></li><li><span class="TLline"><a href="/medgen/331446" ref="tree=MeSH" title="MedGen record for Slender long bone">Slender long bone</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866545" ref="tree=MeSH" title="MedGen record for Abnormal pelvic girdle bone morphology">Abnormal pelvic girdle bone morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870221" ref="tree=MeSH" title="MedGen record for Abnormal coccyx morphology">Abnormal coccyx morphology</a></span></li><li><span class="TLline"><a href="/medgen/869395" ref="tree=MeSH" title="MedGen record for Abnormal greater sciatic notch morphology">Abnormal greater sciatic notch morphology</a></span></li><li><span class="TLline"><a href="/medgen/867370" ref="tree=MeSH" title="MedGen record for Abnormal hip bone morphology">Abnormal hip bone morphology</a></span></li><li><span class="TLline"><a href="/medgen/892714" ref="tree=MeSH" title="MedGen record for Abnormal pelvis bone morphology">Abnormal pelvis bone morphology</a></span></li><li><span class="TLline"><a href="/medgen/870164" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia involving the pelvis">Aplasia/Hypoplasia involving the pelvis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871182" ref="tree=MeSH" title="MedGen record for Abnormal shoulder morphology">Abnormal shoulder morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868726" ref="tree=MeSH" title="MedGen record for Abnormality of the glenoid fossa">Abnormality of the glenoid fossa</a></span></li><li><span class="TLline"><a href="/medgen/346461" ref="tree=MeSH" title="MedGen record for Down-sloping shoulders">Down-sloping shoulders</a></span></li><li><span class="TLline"><a href="/medgen/400062" ref="tree=MeSH" title="MedGen record for Internally rotated shoulders">Internally rotated shoulders</a></span></li><li><span class="TLline"><a href="/medgen/1863722" ref="tree=MeSH" title="MedGen record for Squared off shoulders">Squared off shoulders</a></span></li><li><span class="TLline"><a href="/medgen/871097" ref="tree=MeSH" title="MedGen record for Stippled calcification of the shoulder">Stippled calcification of the shoulder</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/892434" ref="tree=MeSH" title="MedGen record for Abnormal axial skeleton morphology">Abnormal axial skeleton morphology</a></span><ul><li><span class="TLline"><a href="/medgen/488801" ref="tree=MeSH" title="MedGen record for Abnormal skull morphology">Abnormal skull morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871212" ref="tree=MeSH" title="MedGen record for Abnormal calvaria morphology">Abnormal calvaria morphology</a></span></li><li><span class="TLline"><a href="/medgen/871380" ref="tree=MeSH" title="MedGen record for Abnormal cranial suture/fontanelle morphology">Abnormal cranial suture/fontanelle morphology</a></span></li><li><span class="TLline"><a href="/medgen/746145" ref="tree=MeSH" title="MedGen record for Abnormal facial skeleton morphology">Abnormal facial skeleton morphology</a></span></li><li><span class="TLline"><a href="/medgen/871208" ref="tree=MeSH" title="MedGen record for Abnormal foramen magnum morphology">Abnormal foramen magnum morphology</a></span></li><li><span class="TLline"><a href="/medgen/871376" ref="tree=MeSH" title="MedGen record for Abnormal mastoid morphology">Abnormal mastoid morphology</a></span></li><li><span class="TLline"><a href="/medgen/892621" ref="tree=MeSH" title="MedGen record for Abnormal morphology of bony orbit of skull">Abnormal morphology of bony orbit of skull</a></span></li><li><span class="TLline"><a href="/medgen/867389" ref="tree=MeSH" title="MedGen record for Abnormal sella turcica morphology">Abnormal sella turcica morphology</a></span></li><li><span class="TLline"><a href="/medgen/871209" ref="tree=MeSH" title="MedGen record for Abnormal skull base morphology">Abnormal skull base morphology</a></span></li><li><span class="TLline"><a href="/medgen/869735" ref="tree=MeSH" title="MedGen record for Abnormal temporal bone morphology">Abnormal temporal bone morphology</a></span></li><li><span class="TLline"><a href="/medgen/871207" ref="tree=MeSH" title="MedGen record for Abnormality of skull ossification">Abnormality of skull ossification</a></span></li><li><span class="TLline"><a href="/medgen/871378" ref="tree=MeSH" title="MedGen record for Abnormality of skull size">Abnormality of skull size</a></span></li><li><span class="TLline"><a href="/medgen/4934" ref="tree=MeSH" title="MedGen record for Cephalocele">Cephalocele</a></span></li><li><span class="TLline"><a href="/medgen/1162" ref="tree=MeSH" title="MedGen record for Crouzon syndrome">Crouzon syndrome</a></span></li><li><span class="TLline"><a href="/medgen/19997" ref="tree=MeSH" title="MedGen record for Fractured skull">Fractured skull</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867424" ref="tree=MeSH" title="MedGen record for Abnormal thorax morphology">Abnormal thorax morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867420" ref="tree=MeSH" title="MedGen record for Abnormal clavicle morphology">Abnormal clavicle morphology</a></span></li><li><span class="TLline"><a href="/medgen/871275" ref="tree=MeSH" title="MedGen record for Abnormal rib cage morphology">Abnormal rib cage morphology</a></span></li><li><span class="TLline"><a href="/medgen/871337" ref="tree=MeSH" title="MedGen record for Abnormal scapula morphology">Abnormal scapula morphology</a></span></li><li><span class="TLline"><a href="/medgen/349830" ref="tree=MeSH" title="MedGen record for Abnormal sternum morphology">Abnormal sternum morphology</a></span></li><li><span class="TLline"><a href="/medgen/140876" ref="tree=MeSH" title="MedGen record for Short thorax">Short thorax</a></span></li><li><span class="TLline"><a href="/medgen/373339" ref="tree=MeSH" title="MedGen record for Thoracic hypoplasia">Thoracic hypoplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892426" ref="tree=MeSH" title="MedGen record for Abnormality of the vertebral column">Abnormality of the vertebral column</a></span><ul><li><span class="TLline"><a href="/medgen/869321" ref="tree=MeSH" title="MedGen record for Abnormal curvature of the vertebral column">Abnormal curvature of the vertebral column</a></span></li><li><span class="TLline"><a href="/medgen/870792" ref="tree=MeSH" title="MedGen record for Abnormal intervertebral disk morphology">Abnormal intervertebral disk morphology</a></span></li><li><span class="TLline"><a href="/medgen/867602" ref="tree=MeSH" title="MedGen record for Abnormal lumbar spine morphology">Abnormal lumbar spine morphology</a></span></li><li><span class="TLline"><a href="/medgen/351218" ref="tree=MeSH" title="MedGen record for Abnormal odontoid process morphology">Abnormal odontoid process morphology</a></span></li><li><span class="TLline"><a href="/medgen/870793" ref="tree=MeSH" title="MedGen record for Abnormal sacrum morphology">Abnormal sacrum morphology</a></span></li><li><span class="TLline"><a href="/medgen/867603" ref="tree=MeSH" title="MedGen record for Abnormal thoracic spine morphology">Abnormal thoracic spine morphology</a></span></li><li><span class="TLline"><a href="/medgen/371742" ref="tree=MeSH" title="MedGen record for Abnormal vertebral morphology">Abnormal vertebral morphology</a></span></li><li><span class="TLline"><a href="/medgen/338935" ref="tree=MeSH" title="MedGen record for Abnormality of the cervical spine">Abnormality of the cervical spine</a></span></li><li><span class="TLline"><a href="/medgen/871145" ref="tree=MeSH" title="MedGen record for Atlantoaxial abnormality">Atlantoaxial abnormality</a></span></li><li><span class="TLline"><a href="/medgen/1814635" ref="tree=MeSH" title="MedGen record for Neuropathic spinal arthropathy">Neuropathic spinal arthropathy</a></span></li><li><span class="TLline"><a href="/medgen/1864059" ref="tree=MeSH" title="MedGen record for Paravertebral mass">Paravertebral mass</a></span></li><li><span class="TLline"><a href="/medgen/870238" ref="tree=MeSH" title="MedGen record for Reversed usual vertebral column curves">Reversed usual vertebral column curves</a></span></li><li><span class="TLline"><a href="/medgen/396107" ref="tree=MeSH" title="MedGen record for Spinal canal stenosis">Spinal canal stenosis</a></span></li><li><span class="TLline"><a href="/medgen/867475" ref="tree=MeSH" title="MedGen record for Spinal dysplasia">Spinal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/96082" ref="tree=MeSH" title="MedGen record for Spinal instability">Spinal instability</a></span></li><li><span class="TLline"><a href="/medgen/346721" ref="tree=MeSH" title="MedGen record for Spinal rigidity">Spinal rigidity</a></span></li><li><span class="TLline"><a href="/medgen/11560" ref="tree=MeSH" title="MedGen record for Spondylitis">Spondylitis</a></span></li><li><span class="TLline"><a href="/medgen/52470" ref="tree=MeSH" title="MedGen record for Spondylolisthesis">Spondylolisthesis</a></span></li><li><span class="TLline"><a href="/medgen/21294" ref="tree=MeSH" title="MedGen record for Spondylolysis">Spondylolysis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870153" ref="tree=MeSH" title="MedGen record for Aplasia/hypoplasia affecting bones of the axial skeleton">Aplasia/hypoplasia affecting bones of the axial skeleton</a></span><ul><li><span class="TLline"><a href="/medgen/870158" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia involving bones of the skull">Aplasia/Hypoplasia involving bones of the skull</a></span></li><li><span class="TLline"><a href="/medgen/870544" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia involving bones of the thorax">Aplasia/Hypoplasia involving bones of the thorax</a></span></li><li><span class="TLline"><a href="/medgen/870222" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia involving the vertebral column">Aplasia/Hypoplasia involving the vertebral column</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/337580" ref="tree=MeSH" title="MedGen record for Disproportionate short-trunk short stature">Disproportionate short-trunk short stature</a></span><ul><li><span class="TLline"><a href="/medgen/460184" ref="tree=MeSH" title="MedGen record for Childhood-onset short-trunk short stature">Childhood-onset short-trunk short stature</a></span></li><li><span class="TLline"><a href="/medgen/337497" ref="tree=MeSH" title="MedGen record for Infancy onset short-trunk short stature">Infancy onset short-trunk short stature</a></span></li><li><span class="TLline"><a href="/medgen/866799" ref="tree=MeSH" title="MedGen record for Lethal short-trunk short stature">Lethal short-trunk short stature</a></span></li><li><span class="TLline"><a href="/medgen/461258" ref="tree=MeSH" title="MedGen record for Neonatal short-trunk short stature">Neonatal short-trunk short stature</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870141" ref="tree=MeSH" title="MedGen record for Supernumerary bones of the axial skeleton">Supernumerary bones of the axial skeleton</a></span><ul><li><span class="TLline"><a href="/medgen/83380" ref="tree=MeSH" title="MedGen record for Supernumerary ribs">Supernumerary ribs</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/871157" ref="tree=MeSH" title="MedGen record for Abnormal bone structure">Abnormal bone structure</a></span><ul><li><span class="TLline"><a href="/medgen/868753" ref="tree=MeSH" title="MedGen record for Abnormal bone collagen fibril morphology">Abnormal bone collagen fibril morphology</a></span><ul><li><span class="TLline"><a href="/medgen/370919" ref="tree=MeSH" title="MedGen record for Type 1 collagen overmodification">Type 1 collagen overmodification</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868756" ref="tree=MeSH" title="MedGen record for Abnormal bone ossification">Abnormal bone ossification</a></span><ul><li><span class="TLline"><a href="/medgen/871155" ref="tree=MeSH" title="MedGen record for Abnormal enchondral ossification">Abnormal enchondral ossification</a></span></li><li><span class="TLline"><a href="/medgen/866722" ref="tree=MeSH" title="MedGen record for Abnormal intramembranous ossification">Abnormal intramembranous ossification</a></span></li><li><span class="TLline"><a href="/medgen/867294" ref="tree=MeSH" title="MedGen record for Abnormality of bone mineral density">Abnormality of bone mineral density</a></span></li><li><span class="TLline"><a href="/medgen/609330" ref="tree=MeSH" title="MedGen record for Decreased skull ossification">Decreased skull ossification</a></span></li><li><span class="TLline"><a href="/medgen/18209" ref="tree=MeSH" title="MedGen record for Ectopic ossification">Ectopic ossification</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867376" ref="tree=MeSH" title="MedGen record for Abnormal cortical bone morphology">Abnormal cortical bone morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1369651" ref="tree=MeSH" title="MedGen record for Abnormality of foot cortical bone">Abnormality of foot cortical bone</a></span></li><li><span class="TLline"><a href="/medgen/870691" ref="tree=MeSH" title="MedGen record for Cortical irregularity">Cortical irregularity</a></span></li><li><span class="TLline"><a href="/medgen/866681" ref="tree=MeSH" title="MedGen record for Pseudo-fractures">Pseudo-fractures</a></span></li><li><span class="TLline"><a href="/medgen/867991" ref="tree=MeSH" title="MedGen record for Thickened cortex of bones">Thickened cortex of bones</a></span></li><li><span class="TLline"><a href="/medgen/318844" ref="tree=MeSH" title="MedGen record for Thin bony cortex">Thin bony cortex</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868117" ref="tree=MeSH" title="MedGen record for Abnormal osteoclast count">Abnormal osteoclast count</a></span><ul><li><span class="TLline"><a href="/medgen/868116" ref="tree=MeSH" title="MedGen record for Decreased osteoclast count">Decreased osteoclast count</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866611" ref="tree=MeSH" title="MedGen record for Abnormal trabecular bone morphology">Abnormal trabecular bone morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866612" ref="tree=MeSH" title="MedGen record for Coarse metaphyseal trabecularization">Coarse metaphyseal trabecularization</a></span></li><li><span class="TLline"><a href="/medgen/371538" ref="tree=MeSH" title="MedGen record for Sparse bone trabeculae">Sparse bone trabeculae</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2696" ref="tree=MeSH" title="MedGen record for Bone cyst">Bone cyst</a></span><ul><li><span class="TLline"><a href="/medgen/57758" ref="tree=MeSH" title="MedGen record for Aneurysmal bone cyst">Aneurysmal bone cyst</a></span></li><li><span class="TLline"><a href="/medgen/867384" ref="tree=MeSH" title="MedGen record for Cystic angiomatosis of bone">Cystic angiomatosis of bone</a></span></li><li><span class="TLline"><a href="/medgen/868661" ref="tree=MeSH" title="MedGen record for Multiple bony cystic lesions">Multiple bony cystic lesions</a></span></li><li><span class="TLline"><a href="/medgen/900225" ref="tree=MeSH" title="MedGen record for Unicameral bone cyst">Unicameral bone cyst</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10493" ref="tree=MeSH" title="MedGen record for Bone Paget disease">Bone Paget disease</a></span><ul><li><span class="TLline"><a href="/medgen/75678" ref="tree=MeSH" title="MedGen record for Hyperphosphatasemia with bone disease">Hyperphosphatasemia with bone disease</a></span></li><li><span class="TLline"><a href="/medgen/234363" ref="tree=MeSH" title="MedGen record for Sternal Paget Disease">Sternal Paget Disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871004" ref="tree=MeSH" title="MedGen record for Constricted radius">Constricted radius</a></span></li><li><span class="TLline"><a href="/medgen/341491" ref="tree=MeSH" title="MedGen record for Dysplastic patella">Dysplastic patella</a></span></li><li><span class="TLline"><a href="/medgen/120444" ref="tree=MeSH" title="MedGen record for Fibrous dysplasia">Fibrous dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/1639270" ref="tree=MeSH" title="MedGen record for Craniofacial Fibrous Dysplasia">Craniofacial Fibrous Dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/40219" ref="tree=MeSH" title="MedGen record for Fibrous dysplasia of jaw">Fibrous dysplasia of jaw</a></span></li><li><span class="TLline"><a href="/medgen/42020" ref="tree=MeSH" title="MedGen record for Monostotic fibrous dysplasia">Monostotic fibrous dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/5180" ref="tree=MeSH" title="MedGen record for Polyostotic fibrous dysplasia of bone">Polyostotic fibrous dysplasia of bone</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1648424" ref="tree=MeSH" title="MedGen record for Osteolysis">Osteolysis</a></span><ul><li><span class="TLline"><a href="/medgen/183017" ref="tree=MeSH" title="MedGen record for Acroosteolysis">Acroosteolysis</a></span></li><li><span class="TLline"><a href="/medgen/45247" ref="tree=MeSH" title="MedGen record for Disappearing bone disease">Disappearing bone disease</a></span></li><li><span class="TLline"><a href="/medgen/462800" ref="tree=MeSH" title="MedGen record for Mandibular osteolysis">Mandibular osteolysis</a></span></li><li><span class="TLline"><a href="/medgen/324869" ref="tree=MeSH" title="MedGen record for Progressive clavicular acroosteolysis">Progressive clavicular acroosteolysis</a></span></li><li><span class="TLline"><a href="/medgen/462799" ref="tree=MeSH" title="MedGen record for Rib osteolysis">Rib osteolysis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870597" ref="tree=MeSH" title="MedGen record for Radial dysplasia">Radial dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/370003" ref="tree=MeSH" title="MedGen record for Asymmetric radial dysplasia">Asymmetric radial dysplasia</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/871202" ref="tree=MeSH" title="MedGen record for Abnormal cartilage morphology">Abnormal cartilage morphology</a></span><ul><li><span class="TLline"><a href="/medgen/893096" ref="tree=MeSH" title="MedGen record for Abnormal cartilage collagen">Abnormal cartilage collagen</a></span></li><li><span class="TLline"><a href="/medgen/870280" ref="tree=MeSH" title="MedGen record for Abnormal cartilage matrix">Abnormal cartilage matrix</a></span></li><li><span class="TLline"><a href="/medgen/1714402" ref="tree=MeSH" title="MedGen record for Abnormal chondrocyte morphology">Abnormal chondrocyte morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1710079" ref="tree=MeSH" title="MedGen record for Lacunar halos around chondrocytes">Lacunar halos around chondrocytes</a></span></li><li><span class="TLline"><a href="/medgen/868115" ref="tree=MeSH" title="MedGen record for Multinucleated giant chondrocytes in epiphyseal cartilage">Multinucleated giant chondrocytes in epiphyseal cartilage</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/893000" ref="tree=MeSH" title="MedGen record for Abnormal external ear cartilage morphology">Abnormal external ear cartilage morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867022" ref="tree=MeSH" title="MedGen record for Abnormality of the crus of the helix">Abnormality of the crus of the helix</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867588" ref="tree=MeSH" title="MedGen record for Cartilage destruction">Cartilage destruction</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1369244" ref="tree=MeSH" title="MedGen record for Abnormal growth plate morphology">Abnormal growth plate morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1368404" ref="tree=MeSH" title="MedGen record for Thick growth plates">Thick growth plates</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/893060" ref="tree=MeSH" title="MedGen record for Abnormal hyoid bone morphology">Abnormal hyoid bone morphology</a></span></li><li><span class="TLline"><a href="/medgen/893053" ref="tree=MeSH" title="MedGen record for Abnormal joint morphology">Abnormal joint morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1841519" ref="tree=MeSH" title="MedGen record for Abnormal synovial membrane morphology">Abnormal synovial membrane morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1841919" ref="tree=MeSH" title="MedGen record for Synovial granuloma">Synovial granuloma</a></span></li><li><span class="TLline"><a href="/medgen/140824" ref="tree=MeSH" title="MedGen record for Synovial lining hyperplasia">Synovial lining hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/21051" ref="tree=MeSH" title="MedGen record for Synovitis">Synovitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2043" ref="tree=MeSH" title="MedGen record for Arthritis">Arthritis</a></span><ul><li><span class="TLline"><a href="/medgen/116008" ref="tree=MeSH" title="MedGen record for Aggravated Arthritis">Aggravated Arthritis</a></span></li><li><span class="TLline"><a href="/medgen/57632" ref="tree=MeSH" title="MedGen record for Allergic arthritis">Allergic arthritis</a></span></li><li><span class="TLline"><a href="/medgen/1375509" ref="tree=MeSH" title="MedGen record for Atrophic Arthritis">Atrophic Arthritis</a></span></li><li><span class="TLline"><a href="/medgen/120489" ref="tree=MeSH" title="MedGen record for Cervical osteoarthritis">Cervical osteoarthritis</a></span></li><li><span class="TLline"><a href="/medgen/154303" ref="tree=MeSH" title="MedGen record for Chondrocalcinosis">Chondrocalcinosis</a></span></li><li><span class="TLline"><a href="/medgen/57851" ref="tree=MeSH" title="MedGen record for Climacteric arthritis">Climacteric arthritis</a></span></li><li><span class="TLline"><a href="/medgen/384947" ref="tree=MeSH" title="MedGen record for Destructive Arthritis">Destructive Arthritis</a></span></li><li><span class="TLline"><a href="/medgen/858875" ref="tree=MeSH" title="MedGen record for Early Inflammatory Arthritis">Early Inflammatory Arthritis</a></span></li><li><span class="TLline"><a href="/medgen/508755" ref="tree=MeSH" title="MedGen record for Enteropathic arthritis">Enteropathic arthritis</a></span></li><li><span class="TLline"><a href="/medgen/42280" ref="tree=MeSH" title="MedGen record for Gout">Gout</a></span></li><li><span class="TLline"><a href="/medgen/120487" ref="tree=MeSH" title="MedGen record for Hemophilic arthropathy">Hemophilic arthropathy</a></span></li><li><span class="TLline"><a href="/medgen/13918" ref="tree=MeSH" title="MedGen record for Infective arthritis">Infective arthritis</a></span></li><li><span class="TLline"><a href="/medgen/154358" ref="tree=MeSH" title="MedGen record for Inflammation of sacroiliac joint">Inflammation of sacroiliac joint</a></span></li><li><span class="TLline"><a href="/medgen/215416" ref="tree=MeSH" title="MedGen record for Inflammatory spondylopathy">Inflammatory spondylopathy</a></span></li><li><span class="TLline"><a href="/medgen/760659" ref="tree=MeSH" title="MedGen record for Juvenile idiopathic arthritis">Juvenile idiopathic arthritis</a></span></li><li><span class="TLline"><a href="/medgen/66074" ref="tree=MeSH" title="MedGen record for Lyme arthritis">Lyme arthritis</a></span></li><li><span class="TLline"><a href="/medgen/536968" ref="tree=MeSH" title="MedGen record for Migratory arthritis">Migratory arthritis</a></span></li><li><span class="TLline"><a href="/medgen/857717" ref="tree=MeSH" title="MedGen record for Nonerosive Arthritis">Nonerosive Arthritis</a></span></li><li><span class="TLline"><a href="/medgen/856143" ref="tree=MeSH" title="MedGen record for Oligoarthritis">Oligoarthritis</a></span></li><li><span class="TLline"><a href="/medgen/45244" ref="tree=MeSH" title="MedGen record for Osteoarthritis">Osteoarthritis</a></span></li><li><span class="TLline"><a href="/medgen/45397" ref="tree=MeSH" title="MedGen record for Periarthritis">Periarthritis</a></span></li><li><span class="TLline"><a href="/medgen/56408" ref="tree=MeSH" title="MedGen record for Polyarticular arthritis">Polyarticular arthritis</a></span></li><li><span class="TLline"><a href="/medgen/712525" ref="tree=MeSH" title="MedGen record for Post-streptococcal reactive arthritis">Post-streptococcal reactive arthritis</a></span></li><li><span class="TLline"><a href="/medgen/19539" ref="tree=MeSH" title="MedGen record for Pseudogout">Pseudogout</a></span></li><li><span class="TLline"><a href="/medgen/2077" ref="tree=MeSH" title="MedGen record for Psoriatic arthritis">Psoriatic arthritis</a></span></li><li><span class="TLline"><a href="/medgen/39047" ref="tree=MeSH" title="MedGen record for Reactive arthritis">Reactive arthritis</a></span></li><li><span class="TLline"><a href="/medgen/48448" ref="tree=MeSH" title="MedGen record for Rheumatic Fever">Rheumatic Fever</a></span></li><li><span class="TLline"><a href="/medgen/2078" ref="tree=MeSH" title="MedGen record for Rheumatoid arthritis">Rheumatoid arthritis</a></span></li><li><span class="TLline"><a href="/medgen/1374751" ref="tree=MeSH" title="MedGen record for Sterile arthritis">Sterile arthritis</a></span></li><li><span class="TLline"><a href="/medgen/856092" ref="tree=MeSH" title="MedGen record for Suppurative arthritis">Suppurative arthritis</a></span></li><li><span class="TLline"><a href="/medgen/1788218" ref="tree=MeSH" title="MedGen record for Symmetric polyarthritis">Symmetric polyarthritis</a></span></li><li><span class="TLline"><a href="/medgen/672845" ref="tree=MeSH" title="MedGen record for Temporomandibular arthritis">Temporomandibular arthritis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/7190" ref="tree=MeSH" title="MedGen record for Arthropathy">Arthropathy</a></span><ul><li><span class="TLline"><a href="/medgen/8101" ref="tree=MeSH" title="MedGen record for Ankylosis">Ankylosis</a></span></li><li><span class="TLline"><a href="/medgen/13917" ref="tree=MeSH" title="MedGen record for Arthralgia">Arthralgia</a></span></li><li><span class="TLline"><a href="/medgen/2455" ref="tree=MeSH" title="MedGen record for Arthrogryposis">Arthrogryposis</a></span></li><li><span class="TLline"><a href="/medgen/102354" ref="tree=MeSH" title="MedGen record for Behcet syndrome arthropathy">Behcet syndrome arthropathy</a></span></li><li><span class="TLline"><a href="/medgen/691" ref="tree=MeSH" title="MedGen record for Bursitis">Bursitis</a></span></li><li><span class="TLline"><a href="/medgen/508879" ref="tree=MeSH" title="MedGen record for Crystal arthropathy">Crystal arthropathy</a></span></li><li><span class="TLline"><a href="/medgen/445274" ref="tree=MeSH" title="MedGen record for Femoroacetabular impingement">Femoroacetabular impingement</a></span></li><li><span class="TLline"><a href="/medgen/75534" ref="tree=MeSH" title="MedGen record for Hallux rigidus">Hallux rigidus</a></span></li><li><span class="TLline"><a href="/medgen/222181" ref="tree=MeSH" title="MedGen record for Hydrarthrosis">Hydrarthrosis</a></span></li><li><span class="TLline"><a href="/medgen/5935" ref="tree=MeSH" title="MedGen record for Instability of joint">Instability of joint</a></span></li><li><span class="TLline"><a href="/medgen/41614" ref="tree=MeSH" title="MedGen record for Joint dislocation">Joint dislocation</a></span></li><li><span class="TLline"><a href="/medgen/5479" ref="tree=MeSH" title="MedGen record for Joint hemorrhage">Joint hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/7191" ref="tree=MeSH" title="MedGen record for Loose body in joint">Loose body in joint</a></span></li><li><span class="TLline"><a href="/medgen/7575" ref="tree=MeSH" title="MedGen record for Metatarsalgia">Metatarsalgia</a></span></li><li><span class="TLline"><a href="/medgen/3227" ref="tree=MeSH" title="MedGen record for Muscle contracture">Muscle contracture</a></span></li><li><span class="TLline"><a href="/medgen/10257" ref="tree=MeSH" title="MedGen record for Nail-patella syndrome">Nail-patella syndrome</a></span></li><li><span class="TLline"><a href="/medgen/13919" ref="tree=MeSH" title="MedGen record for Neuropathic arthropathy">Neuropathic arthropathy</a></span></li><li><span class="TLline"><a href="/medgen/18210" ref="tree=MeSH" title="MedGen record for Pachydermoperiostosis syndrome">Pachydermoperiostosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/164080" ref="tree=MeSH" title="MedGen record for Patellofemoral pain syndrome">Patellofemoral pain syndrome</a></span></li><li><span class="TLline"><a href="/medgen/870782" ref="tree=MeSH" title="MedGen record for Polyarticular arthropathy">Polyarticular arthropathy</a></span></li><li><span class="TLline"><a href="/medgen/18211" ref="tree=MeSH" title="MedGen record for Secondary hypertrophic osteoarthropathy">Secondary hypertrophic osteoarthropathy</a></span></li><li><span class="TLline"><a href="/medgen/138249" ref="tree=MeSH" title="MedGen record for Shoulder impingement syndrome">Shoulder impingement syndrome</a></span></li><li><span class="TLline"><a href="/medgen/40275" ref="tree=MeSH" title="MedGen record for Synovial chondromatosis">Synovial chondromatosis</a></span></li><li><span class="TLline"><a href="/medgen/21092" ref="tree=MeSH" title="MedGen record for Temporomandibular joint disorder">Temporomandibular joint disorder</a></span></li><li><span class="TLline"><a href="/medgen/101813" ref="tree=MeSH" title="MedGen record for Transient arthropathy">Transient arthropathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/347068" ref="tree=MeSH" title="MedGen record for Enlarged joints">Enlarged joints</a></span></li><li><span class="TLline"><a href="/medgen/83065" ref="tree=MeSH" title="MedGen record for Joint subluxation">Joint subluxation</a></span><ul><li><span class="TLline"><a href="/medgen/375973" ref="tree=MeSH" title="MedGen record for Cervical subluxation">Cervical subluxation</a></span></li><li><span class="TLline"><a href="/medgen/56213" ref="tree=MeSH" title="MedGen record for Radial head subluxation">Radial head subluxation</a></span></li><li><span class="TLline"><a href="/medgen/341673" ref="tree=MeSH" title="MedGen record for Recurrent mandibular subluxations">Recurrent mandibular subluxations</a></span></li><li><span class="TLline"><a href="/medgen/451059" ref="tree=MeSH" title="MedGen record for Shoulder subluxation">Shoulder subluxation</a></span></li><li><span class="TLline"><a href="/medgen/870901" ref="tree=MeSH" title="MedGen record for Subluxation of metacarpal phalangeal joints">Subluxation of metacarpal phalangeal joints</a></span></li><li><span class="TLline"><a href="/medgen/870942" ref="tree=MeSH" title="MedGen record for Subluxation of the proximal interphalangeal joint of the little finger">Subluxation of the proximal interphalangeal joint of the little finger</a></span></li><li><span class="TLline"><a href="/medgen/870918" ref="tree=MeSH" title="MedGen record for Subluxation of the small joints of the hand">Subluxation of the small joints of the hand</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/56258" ref="tree=MeSH" title="MedGen record for Joint swelling">Joint swelling</a></span></li><li><span class="TLline"><a href="/medgen/1689016" ref="tree=MeSH" title="MedGen record for Periarticular soft-tissue mass">Periarticular soft-tissue mass</a></span></li><li><span class="TLline"><a href="/medgen/870786" ref="tree=MeSH" title="MedGen record for Progressive joint destruction">Progressive joint destruction</a></span></li><li><span class="TLline"><a href="/medgen/1842126" ref="tree=MeSH" title="MedGen record for Purulent synovial fluid">Purulent synovial fluid</a></span></li><li><span class="TLline"><a href="/medgen/606166" ref="tree=MeSH" title="MedGen record for Synovial fluid crystals">Synovial fluid crystals</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869217" ref="tree=MeSH" title="MedGen record for Abnormal nasal skeleton morphology">Abnormal nasal skeleton morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869215" ref="tree=MeSH" title="MedGen record for Abnormal nasal bone morphology">Abnormal nasal bone morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869214" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the nasal bone">Aplasia/Hypoplasia of the nasal bone</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892751" ref="tree=MeSH" title="MedGen record for Abnormality nasal septum cartilage morphology">Abnormality nasal septum cartilage morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867277" ref="tree=MeSH" title="MedGen record for Absent nasal septal cartilage">Absent nasal septal cartilage</a></span></li><li><span class="TLline"><a href="/medgen/1720694" ref="tree=MeSH" title="MedGen record for Nasal chondritis">Nasal chondritis</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/868124" ref="tree=MeSH" title="MedGen record for Abnormal periosteum morphology">Abnormal periosteum morphology</a></span><ul><li><span class="TLline"><a href="/medgen/322396" ref="tree=MeSH" title="MedGen record for Metacarpal periosteal thickening">Metacarpal periosteal thickening</a></span></li><li><span class="TLline"><a href="/medgen/331721" ref="tree=MeSH" title="MedGen record for Metatarsal periosteal thickening">Metatarsal periosteal thickening</a></span></li><li><span class="TLline"><a href="/medgen/473334" ref="tree=MeSH" title="MedGen record for Periosteal elevation">Periosteal elevation</a></span></li><li><span class="TLline"><a href="/medgen/322394" ref="tree=MeSH" title="MedGen record for Periosteal thickening of long tubular bones">Periosteal thickening of long tubular bones</a></span></li><li><span class="TLline"><a href="/medgen/45816" ref="tree=MeSH" title="MedGen record for Periostitis">Periostitis</a></span></li><li><span class="TLline"><a href="/medgen/473416" ref="tree=MeSH" title="MedGen record for Periostosis">Periostosis</a></span><ul><li><span class="TLline"><a href="/medgen/871034" ref="tree=MeSH" title="MedGen record for Periosteal new bone of humeral diaphysis">Periosteal new bone of humeral diaphysis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/322397" ref="tree=MeSH" title="MedGen record for Proximal phalangeal periosteal thickening">Proximal phalangeal periosteal thickening</a></span></li><li><span class="TLline"><a href="/medgen/393241" ref="tree=MeSH" title="MedGen record for Subperiosteal bone formation">Subperiosteal bone formation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1369730" ref="tree=MeSH" title="MedGen record for Abnormal synovial bursa morphology">Abnormal synovial bursa morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1056067" ref="tree=MeSH" title="MedGen record for Synovial crystals">Synovial crystals</a></span></li><li><span class="TLline"><a href="/medgen/39320" ref="tree=MeSH" title="MedGen record for Synovial cyst">Synovial cyst</a></span><ul><li><span class="TLline"><a href="/medgen/10853" ref="tree=MeSH" title="MedGen record for Popliteal cyst">Popliteal cyst</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/866679" ref="tree=MeSH" title="MedGen record for Abnormal tendon morphology">Abnormal tendon morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867281" ref="tree=MeSH" title="MedGen record for Abnormality of the Achilles tendon">Abnormality of the Achilles tendon</a></span><ul><li><span class="TLline"><a href="/medgen/1375297" ref="tree=MeSH" title="MedGen record for Achilles tendon calcification">Achilles tendon calcification</a></span></li><li><span class="TLline"><a href="/medgen/214714" ref="tree=MeSH" title="MedGen record for Thickened Achilles tendon">Thickened Achilles tendon</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57634" ref="tree=MeSH" title="MedGen record for Digital flexor tenosynovitis">Digital flexor tenosynovitis</a></span></li><li><span class="TLline"><a href="/medgen/3228" ref="tree=MeSH" title="MedGen record for Joint contracture">Joint contracture</a></span><ul><li><span class="TLline"><a href="/medgen/83069" ref="tree=MeSH" title="MedGen record for Flexion contracture">Flexion contracture</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1757602" ref="tree=MeSH" title="MedGen record for Rotator cuff tear">Rotator cuff tear</a></span></li><li><span class="TLline"><a href="/medgen/508840" ref="tree=MeSH" title="MedGen record for Tendon rupture">Tendon rupture</a></span><ul><li><span class="TLline"><a href="/medgen/1056052" ref="tree=MeSH" title="MedGen record for Triceps tendon rupture">Triceps tendon rupture</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1670963" ref="tree=MeSH" title="MedGen record for Tendon thickening">Tendon thickening</a></span></li><li><span class="TLline"><a href="/medgen/450999" ref="tree=MeSH" title="MedGen record for Tendon xanthomatosis">Tendon xanthomatosis</a></span></li><li><span class="TLline"><a href="/medgen/21094" ref="tree=MeSH" title="MedGen record for Tendonitis">Tendonitis</a></span><ul><li><span class="TLline"><a href="/medgen/538203" ref="tree=MeSH" title="MedGen record for Achilles tendonitis">Achilles tendonitis</a></span></li><li><span class="TLline"><a href="/medgen/1056312" ref="tree=MeSH" title="MedGen record for Biceps tendonitis">Biceps tendonitis</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/870159" ref="tree=MeSH" title="MedGen record for Aplasia/hypoplasia involving the skeleton">Aplasia/hypoplasia involving the skeleton</a></span></li><li><span class="TLline"><a href="/medgen/1054544" ref="tree=MeSH" title="MedGen record for Bone marrow edema">Bone marrow edema</a></span></li><li><span class="TLline"><a href="/medgen/1851010" ref="tree=MeSH" title="MedGen record for Dysostosis multiplex">Dysostosis multiplex</a></span></li><li><span class="TLline"><a href="/medgen/1053664" ref="tree=MeSH" title="MedGen record for Elevated bone scintigraphy uptake">Elevated bone scintigraphy uptake</a></span></li><li><span class="TLline"><a href="/medgen/9366" ref="tree=MeSH" title="MedGen record for Hyperostosis">Hyperostosis</a></span><ul><li><span class="TLline"><a href="/medgen/318629" ref="tree=MeSH" title="MedGen record for Cranial hyperostosis">Cranial hyperostosis</a></span><ul><li><span class="TLline"><a href="/medgen/350147" ref="tree=MeSH" title="MedGen record for Calvarial hyperostosis">Calvarial hyperostosis</a></span></li><li><span class="TLline"><a href="/medgen/327093" ref="tree=MeSH" title="MedGen record for Hyperostosis cranialis interna">Hyperostosis cranialis interna</a></span></li><li><span class="TLline"><a href="/medgen/9367" ref="tree=MeSH" title="MedGen record for Hyperostosis interna frontalis">Hyperostosis interna frontalis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/96080" ref="tree=MeSH" title="MedGen record for Craniodiaphyseal dysplasia">Craniodiaphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1384891" ref="tree=MeSH" title="MedGen record for Craniotubular Hyperostosis">Craniotubular Hyperostosis</a></span></li><li><span class="TLline"><a href="/medgen/5695" ref="tree=MeSH" title="MedGen record for Diffuse idiopathic skeletal hyperostosis">Diffuse idiopathic skeletal hyperostosis</a></span></li><li><span class="TLline"><a href="/medgen/257035" ref="tree=MeSH" title="MedGen record for Exostoses">Exostoses</a></span><ul><li><span class="TLline"><a href="/medgen/870913" ref="tree=MeSH" title="MedGen record for Exostoses of hand bones">Exostoses of hand bones</a></span></li><li><span class="TLline"><a href="/medgen/871014" ref="tree=MeSH" title="MedGen record for Exostoses of the forearm bones">Exostoses of the forearm bones</a></span></li><li><span class="TLline"><a href="/medgen/56363" ref="tree=MeSH" title="MedGen record for Exostosis of external ear canal">Exostosis of external ear canal</a></span></li><li><span class="TLline"><a href="/medgen/6761" ref="tree=MeSH" title="MedGen record for Heberden node">Heberden node</a></span></li><li><span class="TLline"><a href="/medgen/57853" ref="tree=MeSH" title="MedGen record for Heel spur">Heel spur</a></span></li><li><span class="TLline"><a href="/medgen/4612" ref="tree=MeSH" title="MedGen record for Multiple congenital exostosis">Multiple congenital exostosis</a></span></li><li><span class="TLline"><a href="/medgen/363093" ref="tree=MeSH" title="MedGen record for Osteophyte of bone">Osteophyte of bone</a></span></li><li><span class="TLline"><a href="/medgen/335004" ref="tree=MeSH" title="MedGen record for Pelvic bone exostoses">Pelvic bone exostoses</a></span></li><li><span class="TLline"><a href="/medgen/322689" ref="tree=MeSH" title="MedGen record for Rib exostoses">Rib exostoses</a></span></li><li><span class="TLline"><a href="/medgen/377019" ref="tree=MeSH" title="MedGen record for Scapular exostoses">Scapular exostoses</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5696" ref="tree=MeSH" title="MedGen record for Hyperostosis, Sternocostoclavicular">Hyperostosis, Sternocostoclavicular</a></span></li><li><span class="TLline"><a href="/medgen/98484" ref="tree=MeSH" title="MedGen record for Hyperphosphatasemia tarda">Hyperphosphatasemia tarda</a></span></li><li><span class="TLline"><a href="/medgen/5694" ref="tree=MeSH" title="MedGen record for Increased skull ossification">Increased skull ossification</a></span><ul><li><span class="TLline"><a href="/medgen/343213" ref="tree=MeSH" title="MedGen record for Dense calvaria">Dense calvaria</a></span></li><li><span class="TLline"><a href="/medgen/866532" ref="tree=MeSH" title="MedGen record for Increased spinal bone density">Increased spinal bone density</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/43781" ref="tree=MeSH" title="MedGen record for Infantile cortical hyperostosis">Infantile cortical hyperostosis</a></span></li><li><span class="TLline"><a href="/medgen/322334" ref="tree=MeSH" title="MedGen record for Vertebral hyperostosis">Vertebral hyperostosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868157" ref="tree=MeSH" title="MedGen record for Hyperplastic callus formation">Hyperplastic callus formation</a></span></li><li><span class="TLline"><a href="/medgen/377067" ref="tree=MeSH" title="MedGen record for Narrowing of medullary canal">Narrowing of medullary canal</a></span></li><li><span class="TLline"><a href="/medgen/488993" ref="tree=MeSH" title="MedGen record for Neoplasm of the skeletal system">Neoplasm of the skeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/83163" ref="tree=MeSH" title="MedGen record for Adamantinoma">Adamantinoma</a></span><ul><li><span class="TLline"><a href="/medgen/220874" ref="tree=MeSH" title="MedGen record for Tibial adamantinoma">Tibial adamantinoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/40270" ref="tree=MeSH" title="MedGen record for Chondroblastoma">Chondroblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/1751148" ref="tree=MeSH" title="MedGen record for Maxillofacial Chondroblastoma">Maxillofacial Chondroblastoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66375" ref="tree=MeSH" title="MedGen record for Chondromyxoid fibroma">Chondromyxoid fibroma</a></span><ul><li><span class="TLline"><a href="/medgen/1767922" ref="tree=MeSH" title="MedGen record for Maxillofacial Chondromyxoid Fibroma">Maxillofacial Chondromyxoid Fibroma</a></span></li><li><span class="TLline"><a href="/medgen/236958" ref="tree=MeSH" title="MedGen record for Sternal Chondromyxoid Fibroma">Sternal Chondromyxoid Fibroma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/40277" ref="tree=MeSH" title="MedGen record for Chordoma">Chordoma</a></span><ul><li><span class="TLline"><a href="/medgen/1791577" ref="tree=MeSH" title="MedGen record for Conventional Chordoma">Conventional Chordoma</a></span></li><li><span class="TLline"><a href="/medgen/220430" ref="tree=MeSH" title="MedGen record for Dedifferentiated Chordoma">Dedifferentiated Chordoma</a></span></li><li><span class="TLline"><a href="/medgen/1653172" ref="tree=MeSH" title="MedGen record for Metastatic Chordoma">Metastatic Chordoma</a></span></li><li><span class="TLline"><a href="/medgen/1791171" ref="tree=MeSH" title="MedGen record for Poorly differentiated chordoma">Poorly differentiated chordoma</a></span></li><li><span class="TLline"><a href="/medgen/1670910" ref="tree=MeSH" title="MedGen record for Recurrent Chordoma">Recurrent Chordoma</a></span></li><li><span class="TLline"><a href="/medgen/1689454" ref="tree=MeSH" title="MedGen record for Refractory Chordoma">Refractory Chordoma</a></span></li><li><span class="TLline"><a href="/medgen/233448" ref="tree=MeSH" title="MedGen record for Skull base chordoma">Skull base chordoma</a></span></li><li><span class="TLline"><a href="/medgen/347800" ref="tree=MeSH" title="MedGen record for Spinal chordoma">Spinal chordoma</a></span></li><li><span class="TLline"><a href="/medgen/1664696" ref="tree=MeSH" title="MedGen record for Unresectable Chordoma">Unresectable Chordoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/350613" ref="tree=MeSH" title="MedGen record for Diaphyseal medullary stenosis-bone malignancy syndrome">Diaphyseal medullary stenosis-bone malignancy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/316457" ref="tree=MeSH" title="MedGen record for Enchondroma">Enchondroma</a></span><ul><li><span class="TLline"><a href="/medgen/41775" ref="tree=MeSH" title="MedGen record for Enchondromatosis">Enchondromatosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/64624" ref="tree=MeSH" title="MedGen record for Giant cell tumor of bone">Giant cell tumor of bone</a></span></li><li><span class="TLline"><a href="/medgen/501159" ref="tree=MeSH" title="MedGen record for Gigantiform cementoma">Gigantiform cementoma</a></span></li><li><span class="TLline"><a href="/medgen/7437" ref="tree=MeSH" title="MedGen record for Maffucci syndrome">Maffucci syndrome</a></span></li><li><span class="TLline"><a href="/medgen/331588" ref="tree=MeSH" title="MedGen record for OSLAM syndrome">OSLAM syndrome</a></span></li><li><span class="TLline"><a href="/medgen/18212" ref="tree=MeSH" title="MedGen record for Osteoblastoma">Osteoblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/2942" ref="tree=MeSH" title="MedGen record for Cementoma">Cementoma</a></span></li><li><span class="TLline"><a href="/medgen/1721148" ref="tree=MeSH" title="MedGen record for Maxillofacial Osteoblastoma">Maxillofacial Osteoblastoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10496" ref="tree=MeSH" title="MedGen record for Osteochondroma">Osteochondroma</a></span><ul><li><span class="TLline"><a href="/medgen/64625" ref="tree=MeSH" title="MedGen record for Multiple Osteochondromas">Multiple Osteochondromas</a></span></li><li><span class="TLline"><a href="/medgen/328039" ref="tree=MeSH" title="MedGen record for Solitary Osteochondroma">Solitary Osteochondroma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/824952" ref="tree=MeSH" title="MedGen record for Osteochondromyxoma">Osteochondromyxoma</a></span></li><li><span class="TLline"><a href="/medgen/18220" ref="tree=MeSH" title="MedGen record for Osteoma">Osteoma</a></span><ul><li><span class="TLline"><a href="/medgen/539306" ref="tree=MeSH" title="MedGen record for Enostosis">Enostosis</a></span></li><li><span class="TLline"><a href="/medgen/18221" ref="tree=MeSH" title="MedGen record for Osteoid osteoma">Osteoid osteoma</a></span></li><li><span class="TLline"><a href="/medgen/742096" ref="tree=MeSH" title="MedGen record for Skull Osteoma">Skull Osteoma</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/14529" ref="tree=MeSH" title="MedGen record for Osteitis fibrosa">Osteitis fibrosa</a></span></li><li><span class="TLline"><a href="/medgen/98053" ref="tree=MeSH" title="MedGen record for Skeletal dysplasia">Skeletal dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/4268" ref="tree=MeSH" title="MedGen record for Diaphyseal dysplasia">Diaphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/867266" ref="tree=MeSH" title="MedGen record for Lethal skeletal dysplasia">Lethal skeletal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1677924" ref="tree=MeSH" title="MedGen record for Metaphyseal dysplasia">Metaphyseal dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/120528" ref="tree=MeSH" title="MedGen record for Metaphyseal chondrodysplasia">Metaphyseal chondrodysplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6461" ref="tree=MeSH" title="MedGen record for Multiple epiphyseal dysplasia">Multiple epiphyseal dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/1647610" ref="tree=MeSH" title="MedGen record for Multiple epiphyseal dysplasia due to collagen 9 anomaly">Multiple epiphyseal dysplasia due to collagen 9 anomaly</a></span></li><li><span class="TLline"><a href="/medgen/325376" ref="tree=MeSH" title="MedGen record for Multiple epiphyseal dysplasia type 1">Multiple epiphyseal dysplasia type 1</a></span></li><li><span class="TLline"><a href="/medgen/376164" ref="tree=MeSH" title="MedGen record for Multiple epiphyseal dysplasia type 4">Multiple epiphyseal dysplasia type 4</a></span></li><li><span class="TLline"><a href="/medgen/335542" ref="tree=MeSH" title="MedGen record for Multiple epiphyseal dysplasia type 5">Multiple epiphyseal dysplasia type 5</a></span></li><li><span class="TLline"><a href="/medgen/335505" ref="tree=MeSH" title="MedGen record for Multiple epiphyseal dysplasia, Al-Gazali type">Multiple epiphyseal dysplasia, Al-Gazali type</a></span></li><li><span class="TLline"><a href="/medgen/377049" ref="tree=MeSH" title="MedGen record for Multiple epiphyseal dysplasia, Beighton type">Multiple epiphyseal dysplasia, Beighton type</a></span></li><li><span class="TLline"><a href="/medgen/321890" ref="tree=MeSH" title="MedGen record for Multiple epiphyseal dysplasia, Lowry type">Multiple epiphyseal dysplasia, Lowry type</a></span></li><li><span class="TLline"><a href="/medgen/332176" ref="tree=MeSH" title="MedGen record for Multiple epiphyseal dysplasia, with miniepiphyses">Multiple epiphyseal dysplasia, with miniepiphyses</a></span></li><li><span class="TLline"><a href="/medgen/324484" ref="tree=MeSH" title="MedGen record for Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia">Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870684" ref="tree=MeSH" title="MedGen record for Multiple skeletal anomalies">Multiple skeletal anomalies</a></span></li><li><span class="TLline"><a href="/medgen/895748" ref="tree=MeSH" title="MedGen record for Osteofibrous dysplasia">Osteofibrous dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1811782" ref="tree=MeSH" title="MedGen record for Short stature-advanced bone age-early-onset osteoarthritis syndrome">Short stature-advanced bone age-early-onset osteoarthritis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/609408" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia">Spondyloepimetaphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/20916" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia">Spondyloepiphyseal dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/375972" ref="tree=MeSH" title="MedGen record for Anauxetic dysplasia">Anauxetic dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/98476" ref="tree=MeSH" title="MedGen record for Autosomal recessive spondyloepimetaphyseal dysplasia">Autosomal recessive spondyloepimetaphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/419408" ref="tree=MeSH" title="MedGen record for Brachydactylous dwarfism, Mseleni type">Brachydactylous dwarfism, Mseleni type</a></span></li><li><span class="TLline"><a href="/medgen/863379" ref="tree=MeSH" title="MedGen record for Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome">Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/333031" ref="tree=MeSH" title="MedGen record for CODAS syndrome">CODAS syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1638945" ref="tree=MeSH" title="MedGen record for Cono-spondylar dysplasia">Cono-spondylar dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/120527" ref="tree=MeSH" title="MedGen record for Dyggve-Melchior-Clausen syndrome">Dyggve-Melchior-Clausen syndrome</a></span></li><li><span class="TLline"><a href="/medgen/393515" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, spondylocheirodysplastic type">Ehlers-Danlos syndrome, spondylocheirodysplastic type</a></span></li><li><span class="TLline"><a href="/medgen/904613" ref="tree=MeSH" title="MedGen record for Even-plus syndrome">Even-plus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75559" ref="tree=MeSH" title="MedGen record for Kniest dysplasia">Kniest dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/347372" ref="tree=MeSH" title="MedGen record for Lethal Kniest-like syndrome">Lethal Kniest-like syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82694" ref="tree=MeSH" title="MedGen record for Marshall syndrome">Marshall syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82699" ref="tree=MeSH" title="MedGen record for Metatropic dysplasia">Metatropic dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/609409" ref="tree=MeSH" title="MedGen record for Namaqualand hip dysplasia">Namaqualand hip dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1617409" ref="tree=MeSH" title="MedGen record for Otospondylomegaepiphyseal dysplasia">Otospondylomegaepiphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/341234" ref="tree=MeSH" title="MedGen record for Otospondylomegaepiphyseal dysplasia, autosomal dominant">Otospondylomegaepiphyseal dysplasia, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/96581" ref="tree=MeSH" title="MedGen record for Progressive pseudorheumatoid dysplasia">Progressive pseudorheumatoid dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1800305" ref="tree=MeSH" title="MedGen record for Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome">Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419686" ref="tree=MeSH" title="MedGen record for Richieri Costa-da Silva syndrome">Richieri Costa-da Silva syndrome</a></span></li><li><span class="TLline"><a href="/medgen/375801" ref="tree=MeSH" title="MedGen record for Roifman syndrome">Roifman syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98145" ref="tree=MeSH" title="MedGen record for Rolland-Debuqois syndrome">Rolland-Debuqois syndrome</a></span></li><li><span class="TLline"><a href="/medgen/164078" ref="tree=MeSH" title="MedGen record for Schimke immuno-osseous dysplasia">Schimke immuno-osseous dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/19892" ref="tree=MeSH" title="MedGen record for Schwartz-Jampel syndrome">Schwartz-Jampel syndrome</a></span></li><li><span class="TLline"><a href="/medgen/375887" ref="tree=MeSH" title="MedGen record for Smith-McCort dysplasia">Smith-McCort dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/266247" ref="tree=MeSH" title="MedGen record for Sponastrime dysplasia">Sponastrime dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/412869" ref="tree=MeSH" title="MedGen record for Spondylo-megaepiphyseal-metaphyseal dysplasia">Spondylo-megaepiphyseal-metaphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/98148" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia with joint laxity">Spondyloepimetaphyseal dysplasia with joint laxity</a></span></li><li><span class="TLline"><a href="/medgen/350960" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia with multiple dislocations">Spondyloepimetaphyseal dysplasia with multiple dislocations</a></span></li><li><span class="TLline"><a href="/medgen/411237" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia, aggrecan type">Spondyloepimetaphyseal dysplasia, aggrecan type</a></span></li><li><span class="TLline"><a href="/medgen/335350" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia, Bieganski type">Spondyloepimetaphyseal dysplasia, Bieganski type</a></span></li><li><span class="TLline"><a href="/medgen/355314" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia, Genevieve type">Spondyloepimetaphyseal dysplasia, Genevieve type</a></span></li><li><span class="TLline"><a href="/medgen/461895" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia, Handigodu type">Spondyloepimetaphyseal dysplasia, Handigodu type</a></span></li><li><span class="TLline"><a href="/medgen/1676518" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia, Isidor type">Spondyloepimetaphyseal dysplasia, Isidor type</a></span></li><li><span class="TLline"><a href="/medgen/463613" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia, Maroteaux type">Spondyloepimetaphyseal dysplasia, Maroteaux type</a></span></li><li><span class="TLline"><a href="/medgen/325181" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia, matrilin-3 type">Spondyloepimetaphyseal dysplasia, matrilin-3 type</a></span></li><li><span class="TLline"><a href="/medgen/355563" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia, Missouri type">Spondyloepimetaphyseal dysplasia, Missouri type</a></span></li><li><span class="TLline"><a href="/medgen/411234" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia, PAPSS2 type">Spondyloepimetaphyseal dysplasia, PAPSS2 type</a></span></li><li><span class="TLline"><a href="/medgen/400703" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia, Shohat type">Spondyloepimetaphyseal dysplasia, Shohat type</a></span></li><li><span class="TLline"><a href="/medgen/147134" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia, Strudwick type">Spondyloepimetaphyseal dysplasia, Strudwick type</a></span></li><li><span class="TLline"><a href="/medgen/356550" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome">Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome</a></span></li><li><span class="TLline"><a href="/medgen/357120" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome">Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/338595" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome">Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome</a></span></li><li><span class="TLline"><a href="/medgen/412530" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia congenita">Spondyloepiphyseal dysplasia congenita</a></span></li><li><span class="TLline"><a href="/medgen/1778118" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia tarda">Spondyloepiphyseal dysplasia tarda</a></span></li><li><span class="TLline"><a href="/medgen/338603" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia tarda, Kohn type">Spondyloepiphyseal dysplasia tarda, Kohn type</a></span></li><li><span class="TLline"><a href="/medgen/355919" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability">Spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability</a></span></li><li><span class="TLline"><a href="/medgen/324580" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia with metatarsal shortening">Spondyloepiphyseal dysplasia with metatarsal shortening</a></span></li><li><span class="TLline"><a href="/medgen/435975" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia, Cantu type">Spondyloepiphyseal dysplasia, Cantu type</a></span></li><li><span class="TLline"><a href="/medgen/330777" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia, Kimberley type">Spondyloepiphyseal dysplasia, Kimberley type</a></span></li><li><span class="TLline"><a href="/medgen/401067" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia, MacDermot type">Spondyloepiphyseal dysplasia, MacDermot type</a></span></li><li><span class="TLline"><a href="/medgen/322238" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia, Reardon type">Spondyloepiphyseal dysplasia, Reardon type</a></span></li><li><span class="TLline"><a href="/medgen/1780157" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis">Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis</a></span></li><li><span class="TLline"><a href="/medgen/905084" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia, Stanescu type">Spondyloepiphyseal dysplasia, Stanescu type</a></span></li><li><span class="TLline"><a href="/medgen/163223" ref="tree=MeSH" title="MedGen record for Spondyloperipheral dysplasia">Spondyloperipheral dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/120521" ref="tree=MeSH" title="MedGen record for Stickler syndrome">Stickler syndrome</a></span></li><li><span class="TLline"><a href="/medgen/140926" ref="tree=MeSH" title="MedGen record for Wolcott-Rallison dysplasia">Wolcott-Rallison dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1811349" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome">X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/376281" ref="tree=MeSH" title="MedGen record for X-linked spondyloepimetaphyseal dysplasia">X-linked spondyloepimetaphyseal dysplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1674850" ref="tree=MeSH" title="MedGen record for Spondylometaphyseal dysplasia">Spondylometaphyseal dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/413221" ref="tree=MeSH" title="MedGen record for Autosomal recessive spondylometaphyseal dysplasia, Megarbane type">Autosomal recessive spondylometaphyseal dysplasia, Megarbane type</a></span></li><li><span class="TLline"><a href="/medgen/356065" ref="tree=MeSH" title="MedGen record for Axial spondylometaphyseal dysplasia">Axial spondylometaphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1784281" ref="tree=MeSH" title="MedGen record for Odontochondrodysplasia 1">Odontochondrodysplasia 1</a></span></li><li><span class="TLline"><a href="/medgen/1648288" ref="tree=MeSH" title="MedGen record for Regressive spondylometaphyseal dysplasia">Regressive spondylometaphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/98477" ref="tree=MeSH" title="MedGen record for Spondyloenchondrodysplasia">Spondyloenchondrodysplasia</a></span></li><li><span class="TLline"><a href="/medgen/375009" ref="tree=MeSH" title="MedGen record for Spondyloenchondrodysplasia with immune dysregulation">Spondyloenchondrodysplasia with immune dysregulation</a></span></li><li><span class="TLline"><a href="/medgen/98146" ref="tree=MeSH" title="MedGen record for Spondylometaphyseal dysplasia - Sutcliffe type">Spondylometaphyseal dysplasia - Sutcliffe type</a></span></li><li><span class="TLline"><a href="/medgen/1714019" ref="tree=MeSH" title="MedGen record for Spondylometaphyseal dysplasia with corneal dystrophy">Spondylometaphyseal dysplasia with corneal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/324620" ref="tree=MeSH" title="MedGen record for Spondylometaphyseal dysplasia, A4 type">Spondylometaphyseal dysplasia, A4 type</a></span></li><li><span class="TLline"><a href="/medgen/960295" ref="tree=MeSH" title="MedGen record for Spondylometaphyseal dysplasia, Czarny-Ratajczak type">Spondylometaphyseal dysplasia, Czarny-Ratajczak type</a></span></li><li><span class="TLline"><a href="/medgen/208672" ref="tree=MeSH" title="MedGen record for Spondylometaphyseal dysplasia, Golden type">Spondylometaphyseal dysplasia, Golden type</a></span></li><li><span class="TLline"><a href="/medgen/82698" ref="tree=MeSH" title="MedGen record for Spondylometaphyseal dysplasia, Kozlowski type">Spondylometaphyseal dysplasia, Kozlowski type</a></span></li><li><span class="TLline"><a href="/medgen/356595" ref="tree=MeSH" title="MedGen record for Spondylometaphyseal dysplasia, Schmidt type">Spondylometaphyseal dysplasia, Schmidt type</a></span></li><li><span class="TLline"><a href="/medgen/340816" ref="tree=MeSH" title="MedGen record for Spondylometaphyseal dysplasia, Sedaghatian type">Spondylometaphyseal dysplasia, Sedaghatian type</a></span></li><li><span class="TLline"><a href="/medgen/375263" ref="tree=MeSH" title="MedGen record for Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome">Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/324684" ref="tree=MeSH" title="MedGen record for Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome">Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1644154" ref="tree=MeSH" title="MedGen record for Xanthoma of bone">Xanthoma of bone</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_411414"><div><strong>46,XX sex reversal 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>411414</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.">C2749215</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Nonsyndromic 46,XX testicular disorders/differences of sex development (DSD) are characterized by: the presence of a 46,XX karyotype; external genitalia ranging from typical male to ambiguous; two testicles; azoospermia; absence of müllerian structures; and absence of other syndromic features, such as congenital anomalies outside of the genitourinary system, learning disorders / cognitive impairment, or behavioral issues. Approximately 85% of individuals with nonsyndromic 46,XX testicular DSD present after puberty with normal pubic hair and normal penile size but small testes, gynecomastia, and sterility resulting from azoospermia. Approximately 15% of individuals with nonsyndromic 46,XX testicular DSD present at birth with ambiguous genitalia. Gender role and gender identity are reported as male. If untreated, males with 46,XX testicular DSD experience the consequences of testosterone deficiency.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/411414">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_863723"><div><strong>Macular degeneration, early-onset</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863723</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.">C4015286</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/863723">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_411414" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">46,XX sex reversal 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863723" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macular degeneration, early-onset</a></div></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/36803942">Joubert syndrome: Molecular basis and treatment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Spahiu L,
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Behluli E,
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Grajçevci-Uka V,
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Liehr T,
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Temaj G</span><br />
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<span class="medgenPMjournal">J Mother Child</span>
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2022 Mar 1;26(1):118-123.
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Epub 2023 Feb 22
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doi: 10.34763/jmotherandchild.20222601.d-22-00034.
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<span class="bold">PMID: </span><a href="/pubmed/36803942" target="_blank">36803942</a><a href="/pmc/articles/PMC10032320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34518671">Update on the pathogenesis and treatment of skeletal fragility in type 2 diabetes mellitus.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Khosla S,
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Samakkarnthai P,
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Monroe DG,
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Farr JN</span><br />
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<span class="medgenPMjournal">Nat Rev Endocrinol</span>
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2021 Nov;17(11):685-697.
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Epub 2021 Sep 13
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doi: 10.1038/s41574-021-00555-5.
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<span class="bold">PMID: </span><a href="/pubmed/34518671" target="_blank">34518671</a><a href="/pmc/articles/PMC8605611" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34184088">Pathophysiology and mechanisms of primary sarcopenia (Review).</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nishikawa H,
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Fukunishi S,
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Asai A,
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Yokohama K,
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Nishiguchi S,
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Higuchi K</span><br />
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<span class="medgenPMjournal">Int J Mol Med</span>
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2021 Aug;48(2)
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Epub 2021 Jun 29
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doi: 10.3892/ijmm.2021.4989.
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<span class="bold">PMID: </span><a href="/pubmed/34184088" target="_blank">34184088</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20skeletal%20morphology)%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 (336)</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/23382688">Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Watkins-Chow DE,
|
||
Cooke J,
|
||
Pidsley R,
|
||
Edwards A,
|
||
Slotkin R,
|
||
Leeds KE,
|
||
Mullen R,
|
||
Baxter LL,
|
||
Campbell TG,
|
||
Salzer MC,
|
||
Biondini L,
|
||
Gibney G,
|
||
Phan Dinh Tuy F,
|
||
Chelly J,
|
||
Morris HD,
|
||
Riegler J,
|
||
Lythgoe MF,
|
||
Arkell RM,
|
||
Loreni F,
|
||
Flint J,
|
||
Pavan WJ,
|
||
Keays DA</span><br />
|
||
<span class="medgenPMjournal">PLoS Genet</span>
|
||
2013;9(1):e1003094.
|
||
Epub 2013 Jan 31
|
||
doi: 10.1371/journal.pgen.1003094.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23382688" target="_blank">23382688</a><a href="/pmc/articles/PMC3561062" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20skeletal%20morphology%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 (1)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31077548">Acromesomelic dysplasia Maroteaux-type in patients from Vietnam.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tran TH,
|
||
Cao MH,
|
||
Luong LH,
|
||
Le PT,
|
||
Vu DC,
|
||
Ta TD,
|
||
Bui TH,
|
||
Nguyen DH,
|
||
Van Ta T,
|
||
Tran VK</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2019 Aug;179(8):1420-1422.
|
||
Epub 2019 May 11
|
||
doi: 10.1002/ajmg.a.61192.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31077548" target="_blank">31077548</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20skeletal%20morphology%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 (1)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23382688">Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Watkins-Chow DE,
|
||
Cooke J,
|
||
Pidsley R,
|
||
Edwards A,
|
||
Slotkin R,
|
||
Leeds KE,
|
||
Mullen R,
|
||
Baxter LL,
|
||
Campbell TG,
|
||
Salzer MC,
|
||
Biondini L,
|
||
Gibney G,
|
||
Phan Dinh Tuy F,
|
||
Chelly J,
|
||
Morris HD,
|
||
Riegler J,
|
||
Lythgoe MF,
|
||
Arkell RM,
|
||
Loreni F,
|
||
Flint J,
|
||
Pavan WJ,
|
||
Keays DA</span><br />
|
||
<span class="medgenPMjournal">PLoS Genet</span>
|
||
2013;9(1):e1003094.
|
||
Epub 2013 Jan 31
|
||
doi: 10.1371/journal.pgen.1003094.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23382688" target="_blank">23382688</a><a href="/pmc/articles/PMC3561062" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20skeletal%20morphology%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 (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Abnormal%20skeletal%20morphology" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20skeletal%20morphology)%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Abnormal%20skeletal%20morphology%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Abnormal%20skeletal%20morphology" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Abnormal%20skeletal%20morphology" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Abnormal%20skeletal%20morphology%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>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=868760" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=868760" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=868760" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc9fda84f3725e596c366c">Abnormal skeletal morphology</a>
|
||
<div class="ralinkpop offscreen_noflow">Abnormal skeletal morphology<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
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