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<!--
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UID=1098
|
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ConceptID=C0009782
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Connective tissue disorder</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1098</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.">C0009782</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Connective tissue disease</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Connective tissue disease (105969002); Disorder of connective tissue (105969002)</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
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<td><a href="https://monarchinitiative.org/disease/MONDO:0003900" target="_blank">MONDO:0003900</a></td></tr>
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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>
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<div class="portlet_content ln">A non-neoplastic or neoplastic disorder that affects the connective tissue. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</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">Connective tissue disorder</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/272508" ref="tree=MeSH" title="MedGen record for Connective and Soft Tissue Disorder">Connective and Soft Tissue Disorder</a></span><ul><li><span class="matched_ds">Connective tissue disorder</span><ul><li><span class="TLline"><a href="/medgen/266204" ref="tree=MeSH" title="MedGen record for Anetoderma">Anetoderma</a></span></li><li><span class="TLline"><a href="/medgen/2701" ref="tree=MeSH" title="MedGen record for Bone Neoplasm">Bone Neoplasm</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/146337" ref="tree=MeSH" title="MedGen record for Bone benign neoplasm">Bone benign neoplasm</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/2572" ref="tree=MeSH" title="MedGen record for Benign neoplasm of lower jaw bone">Benign neoplasm of lower jaw bone</a></span></li><li><span class="TLline"><a href="/medgen/886843" ref="tree=MeSH" title="MedGen record for Benign Notochordal Cell Tumor">Benign Notochordal Cell Tumor</a></span></li><li><span class="TLline"><a href="/medgen/1380763" ref="tree=MeSH" title="MedGen record for Benign Osteoclastic Giant Cell-Rich Tumor of Bone">Benign Osteoclastic Giant Cell-Rich Tumor of Bone</a></span></li><li><span class="TLline"><a href="/medgen/234042" ref="tree=MeSH" title="MedGen record for Bone Hemangioma">Bone Hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/231449" ref="tree=MeSH" title="MedGen record for Bone Lipoma">Bone Lipoma</a></span></li><li><span class="TLline"><a href="/medgen/234024" ref="tree=MeSH" title="MedGen record for Bone Schwannoma">Bone Schwannoma</a></span></li><li><span class="TLline"><a href="/medgen/40270" ref="tree=MeSH" title="MedGen record for Chondroblastoma">Chondroblastoma</a></span></li><li><span class="TLline"><a href="/medgen/66375" ref="tree=MeSH" title="MedGen record for Chondromyxoid fibroma">Chondromyxoid fibroma</a></span></li><li><span class="TLline"><a href="/medgen/316457" ref="tree=MeSH" title="MedGen record for Enchondroma">Enchondroma</a></span></li><li><span class="TLline"><a href="/medgen/41775" ref="tree=MeSH" title="MedGen record for Enchondromatosis">Enchondromatosis</a></span></li><li><span class="TLline"><a href="/medgen/120444" ref="tree=MeSH" title="MedGen record for Fibrous dysplasia">Fibrous dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/353417" ref="tree=MeSH" title="MedGen record for Fibrous Histiocytoma of Bone">Fibrous Histiocytoma of Bone</a></span></li><li><span class="TLline"><a href="/medgen/569529" ref="tree=MeSH" title="MedGen record for Non-Ossifying Fibroma">Non-Ossifying Fibroma</a></span></li><li><span class="TLline"><a href="/medgen/18212" ref="tree=MeSH" title="MedGen record for Osteoblastoma">Osteoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/10496" ref="tree=MeSH" title="MedGen record for Osteochondroma">Osteochondroma</a></span></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/18221" ref="tree=MeSH" title="MedGen record for Osteoid osteoma">Osteoid osteoma</a></span></li><li><span class="TLline"><a href="/medgen/18220" ref="tree=MeSH" title="MedGen record for Osteoma">Osteoma</a></span></li><li><span class="TLline"><a href="/medgen/87260" ref="tree=MeSH" title="MedGen record for Periosteal chondroma">Periosteal chondroma</a></span></li><li><span class="TLline"><a href="/medgen/137765" ref="tree=MeSH" title="MedGen record for Periosteal Fibroma">Periosteal Fibroma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/79002" ref="tree=MeSH" title="MedGen record for Bone cancer">Bone cancer</a></span><ul><li><span class="TLline"><a href="/medgen/1622291" ref="tree=MeSH" title="MedGen record for Bone Cancer by AJCC v7 Stage">Bone Cancer by AJCC v7 Stage</a></span></li><li><span class="TLline"><a href="/medgen/1621808" 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ref="tree=MeSH" title="MedGen record for Malignant Osteoclastic Giant Cell-Rich Tumor of Bone">Malignant Osteoclastic Giant Cell-Rich Tumor of Bone</a></span></li><li><span class="TLline"><a href="/medgen/57788" ref="tree=MeSH" title="MedGen record for Mandibular cancer">Mandibular cancer</a></span></li><li><span class="TLline"><a href="/medgen/102288" ref="tree=MeSH" title="MedGen record for Metastatic malignant neoplasm to bone">Metastatic malignant neoplasm to bone</a></span></li><li><span class="TLline"><a href="/medgen/231451" ref="tree=MeSH" title="MedGen record for Primary bone lymphoma">Primary bone lymphoma</a></span></li><li><span class="TLline"><a href="/medgen/1670454" ref="tree=MeSH" title="MedGen record for Recurrent Malignant Bone Neoplasm">Recurrent Malignant Bone Neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/1668876" ref="tree=MeSH" title="MedGen record for Refractory Malignant Bone Neoplasm">Refractory Malignant Bone Neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/75777" ref="tree=MeSH" title="MedGen record for Solitary osseous plasmacytoma">Solitary osseous plasmacytoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1791593" ref="tree=MeSH" title="MedGen record for Bone Erdheim-Chester Disease">Bone Erdheim-Chester Disease</a></span></li><li><span class="TLline"><a href="/medgen/231952" ref="tree=MeSH" title="MedGen record for Bone Glomus Tumor">Bone Glomus Tumor</a></span></li><li><span class="TLline"><a href="/medgen/1791592" ref="tree=MeSH" title="MedGen record for Bone Langerhans Cell Histiocytosis">Bone Langerhans Cell Histiocytosis</a></span></li><li><span class="TLline"><a href="/medgen/890093" ref="tree=MeSH" title="MedGen record for Intermediate Bone Neoplasm">Intermediate Bone Neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/90805" ref="tree=MeSH" title="MedGen record for Aggressive Osteoblastoma">Aggressive Osteoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/1791589" ref="tree=MeSH" title="MedGen record for Fibrocartilaginous Mesenchymoma">Fibrocartilaginous Mesenchymoma</a></span></li><li><span class="TLline"><a href="/medgen/885289" ref="tree=MeSH" title="MedGen record for Intermediate Osteoclastic Giant Cell-Rich Tumor of Bone">Intermediate Osteoclastic Giant Cell-Rich Tumor of Bone</a></span></li><li><span class="TLline"><a href="/medgen/87261" ref="tree=MeSH" title="MedGen record for Metastasizing Chondroblastoma">Metastasizing Chondroblastoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1733641" ref="tree=MeSH" title="MedGen record for Maxillofacial Neoplasm">Maxillofacial Neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/1766349" ref="tree=MeSH" title="MedGen record for Benign Maxillofacial Neoplasm">Benign Maxillofacial Neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/1733820" ref="tree=MeSH" title="MedGen record for Maxillofacial Sarcoma">Maxillofacial Sarcoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8809" ref="tree=MeSH" title="MedGen record for Neoplasm of femur">Neoplasm of femur</a></span></li><li><span class="TLline"><a href="/medgen/233252" ref="tree=MeSH" title="MedGen record for Notochordal tumor">Notochordal tumor</a></span></li><li><span class="TLline"><a href="/medgen/886631" ref="tree=MeSH" title="MedGen record for Osteoclastic Giant Cell-Rich Tumor of Bone">Osteoclastic Giant Cell-Rich Tumor of Bone</a></span></li><li><span class="TLline"><a href="/medgen/11457" ref="tree=MeSH" title="MedGen record for Skull neoplasm">Skull neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/671540" ref="tree=MeSH" title="MedGen record for Benign Skull Neoplasm">Benign Skull Neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/43991" ref="tree=MeSH" title="MedGen record for Jaw neoplasm">Jaw neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/10386" ref="tree=MeSH" title="MedGen record for Neoplasm of the nose">Neoplasm of the nose</a></span></li><li><span class="TLline"><a href="/medgen/18190" ref="tree=MeSH" title="MedGen record for Orbit neoplasm">Orbit neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/138208" ref="tree=MeSH" title="MedGen record for Skull base neoplasm">Skull base neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/1662558" ref="tree=MeSH" title="MedGen record for Skull cancer">Skull cancer</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/21281" ref="tree=MeSH" title="MedGen record for Spinal Neoplasm">Spinal Neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/1709056" ref="tree=MeSH" title="MedGen record for Cervical Spine Neoplasm">Cervical Spine Neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/854504" ref="tree=MeSH" title="MedGen record for Intraspinal Neoplasm">Intraspinal Neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/1712609" ref="tree=MeSH" title="MedGen record for Lumbar Spine Neoplasm">Lumbar Spine Neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/1714448" ref="tree=MeSH" title="MedGen record for Lumbosacral Spine Neoplasm">Lumbosacral Spine Neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/1710280" ref="tree=MeSH" title="MedGen record for Sacral Spine Neoplasm">Sacral Spine Neoplasm</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/1713679" ref="tree=MeSH" title="MedGen record for Thoracic Spine Neoplasm">Thoracic Spine Neoplasm</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/234986" ref="tree=MeSH" title="MedGen record for Vascular bone neoplasm">Vascular bone neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/231448" ref="tree=MeSH" title="MedGen record for Bone angiosarcoma">Bone angiosarcoma</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/886135" ref="tree=MeSH" title="MedGen record for Bone Tumor of Undefined Neoplastic Nature">Bone Tumor of Undefined Neoplastic Nature</a></span><ul><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/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/353536" ref="tree=MeSH" title="MedGen record for Chondromesenchymal hamartoma of chest wall">Chondromesenchymal hamartoma of chest wall</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/40125" ref="tree=MeSH" title="MedGen record for Cartilage disorder">Cartilage disorder</a></span><ul><li><span class="TLline"><a href="/medgen/939" ref="tree=MeSH" title="MedGen record for Chondromalacia of patella">Chondromalacia of patella</a></span></li><li><span class="TLline"><a href="/medgen/120500" ref="tree=MeSH" title="MedGen record for Congenital laryngomalacia">Congenital laryngomalacia</a></span></li><li><span class="TLline"><a href="/medgen/14531" ref="tree=MeSH" title="MedGen record for Osteochondritis">Osteochondritis</a></span><ul><li><span class="TLline"><a href="/medgen/10494" ref="tree=MeSH" title="MedGen record for Osteochondritis dissecans">Osteochondritis dissecans</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57643" ref="tree=MeSH" title="MedGen record for Pectus carinatum">Pectus carinatum</a></span><ul><li><span class="TLline"><a href="/medgen/351219" ref="tree=MeSH" title="MedGen record for Superior pectus carinatum">Superior pectus carinatum</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45995" ref="tree=MeSH" title="MedGen record for Relapsing polychondritis">Relapsing polychondritis</a></span></li><li><span class="TLline"><a href="/medgen/52753" ref="tree=MeSH" title="MedGen record for Tietze syndrome">Tietze syndrome</a></span></li><li><span class="TLline"><a href="/medgen/137939" ref="tree=MeSH" title="MedGen record for Tracheobronchomalacia">Tracheobronchomalacia</a></span><ul><li><span class="TLline"><a href="/medgen/82679" ref="tree=MeSH" title="MedGen record for Bronchomalacia">Bronchomalacia</a></span></li><li><span class="TLline"><a href="/medgen/1814106" ref="tree=MeSH" title="MedGen record for Cartilaginous tracheobronchomalacia">Cartilaginous tracheobronchomalacia</a></span></li><li><span class="TLline"><a href="/medgen/1813883" ref="tree=MeSH" title="MedGen record for Excessive dynamic airway collapse">Excessive dynamic airway collapse</a></span></li><li><span class="TLline"><a href="/medgen/215296" ref="tree=MeSH" title="MedGen record for Tracheomalacia">Tracheomalacia</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/40174" ref="tree=MeSH" title="MedGen record for Cellulitis">Cellulitis</a></span><ul><li><span class="TLline"><a href="/medgen/831" ref="tree=MeSH" title="MedGen record for Cellulitis of hand">Cellulitis of hand</a></span></li><li><span class="TLline"><a href="/medgen/538455" ref="tree=MeSH" title="MedGen record for Cellulitis of pharynx">Cellulitis of pharynx</a></span></li><li><span class="TLline"><a href="/medgen/44205" ref="tree=MeSH" title="MedGen record for Ludwig angina">Ludwig angina</a></span></li><li><span class="TLline"><a href="/medgen/57681" ref="tree=MeSH" title="MedGen record for Orbital cellulitis">Orbital cellulitis</a></span></li><li><span class="TLline"><a href="/medgen/705094" ref="tree=MeSH" title="MedGen record for Preseptal cellulitis">Preseptal cellulitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45035" ref="tree=MeSH" title="MedGen record for Connective tissue neoplasm">Connective tissue neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/181701" ref="tree=MeSH" title="MedGen record for Chondroma">Chondroma</a></span><ul><li><span class="TLline"><a href="/medgen/61647" ref="tree=MeSH" title="MedGen record for Chondromatosis">Chondromatosis</a></span></li><li><span class="TLline"><a href="/medgen/1731391" ref="tree=MeSH" title="MedGen record for Laryngeal Chondroma">Laryngeal Chondroma</a></span></li><li><span class="TLline"><a href="/medgen/1769138" ref="tree=MeSH" title="MedGen record for Maxillofacial Chondroma">Maxillofacial Chondroma</a></span></li><li><span class="TLline"><a href="/medgen/266157" ref="tree=MeSH" title="MedGen record for Soft tissue chondroma">Soft tissue chondroma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3054" ref="tree=MeSH" title="MedGen record for Chondrosarcoma">Chondrosarcoma</a></span><ul><li><span class="TLline"><a href="/medgen/237059" ref="tree=MeSH" title="MedGen record for Atypical Cartilaginous Tumor/Chondrosarcoma, Grade 1">Atypical Cartilaginous Tumor/Chondrosarcoma, Grade 1</a></span></li><li><span class="TLline"><a href="/medgen/824797" ref="tree=MeSH" title="MedGen record for Chondrosarcoma, Grade 2">Chondrosarcoma, Grade 2</a></span></li><li><span class="TLline"><a href="/medgen/824654" ref="tree=MeSH" title="MedGen record for Chondrosarcoma, Grade 3">Chondrosarcoma, Grade 3</a></span></li><li><span class="TLline"><a href="/medgen/226848" ref="tree=MeSH" title="MedGen record for Clear cell chondrosarcoma">Clear cell chondrosarcoma</a></span></li><li><span class="TLline"><a href="/medgen/209021" ref="tree=MeSH" title="MedGen record for Dedifferentiated chondrosarcoma">Dedifferentiated chondrosarcoma</a></span></li><li><span class="TLline"><a href="/medgen/1766179" ref="tree=MeSH" title="MedGen record for Laryngeal Chondrosarcoma">Laryngeal Chondrosarcoma</a></span></li><li><span class="TLline"><a href="/medgen/163180" ref="tree=MeSH" title="MedGen record for Localized chondrosarcoma">Localized chondrosarcoma</a></span></li><li><span class="TLline"><a href="/medgen/1757164" ref="tree=MeSH" title="MedGen record for Maxillofacial Chondrosarcoma">Maxillofacial Chondrosarcoma</a></span></li><li><span class="TLline"><a href="/medgen/104904" ref="tree=MeSH" title="MedGen record for Mesenchymal chondrosarcoma">Mesenchymal chondrosarcoma</a></span></li><li><span class="TLline"><a href="/medgen/208940" ref="tree=MeSH" title="MedGen record for Metastatic Chondrosarcoma">Metastatic Chondrosarcoma</a></span></li><li><span class="TLline"><a href="/medgen/90806" ref="tree=MeSH" title="MedGen record for Periosteal chondrosarcoma">Periosteal chondrosarcoma</a></span></li><li><span class="TLline"><a href="/medgen/277528" ref="tree=MeSH" title="MedGen record for Primary Central Chondrosarcoma">Primary Central Chondrosarcoma</a></span></li><li><span class="TLline"><a href="/medgen/163496" ref="tree=MeSH" title="MedGen record for Recurrent Chondrosarcoma">Recurrent Chondrosarcoma</a></span></li><li><span class="TLline"><a href="/medgen/233439" ref="tree=MeSH" title="MedGen record for Secondary Chondrosarcoma">Secondary Chondrosarcoma</a></span></li><li><span class="TLline"><a href="/medgen/1782515" ref="tree=MeSH" title="MedGen record for Synovial Chondrosarcoma">Synovial Chondrosarcoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/104909" ref="tree=MeSH" title="MedGen record for Clear cell sarcoma">Clear cell sarcoma</a></span><ul><li><span class="TLline"><a href="/medgen/233963" ref="tree=MeSH" title="MedGen record for Adult Clear Cell Sarcoma of Soft Tissue">Adult Clear Cell Sarcoma of Soft Tissue</a></span></li><li><span class="TLline"><a href="/medgen/234126" ref="tree=MeSH" title="MedGen record for Childhood Clear Cell Sarcoma of Soft Tissue">Childhood Clear Cell Sarcoma of Soft Tissue</a></span></li><li><span class="TLline"><a href="/medgen/1695380" ref="tree=MeSH" title="MedGen record for Metastatic Clear Cell Sarcoma of Soft Tissue">Metastatic Clear Cell Sarcoma of Soft Tissue</a></span></li><li><span class="TLline"><a href="/medgen/1793208" ref="tree=MeSH" title="MedGen record for Recurrent Clear Cell Sarcoma of Soft Tissue">Recurrent Clear Cell Sarcoma of Soft Tissue</a></span></li><li><span class="TLline"><a href="/medgen/1793207" ref="tree=MeSH" title="MedGen record for Refractory Clear Cell Sarcoma of Soft Tissue">Refractory Clear Cell Sarcoma of Soft Tissue</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/87280" ref="tree=MeSH" title="MedGen record for Endometrial stromal tumor">Endometrial stromal tumor</a></span><ul><li><span class="TLline"><a href="/medgen/60196" ref="tree=MeSH" title="MedGen record for Endometrial stromal sarcoma">Endometrial stromal sarcoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/60198" ref="tree=MeSH" title="MedGen record for Fibroblastic neoplasm">Fibroblastic neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/231936" ref="tree=MeSH" title="MedGen record for Benign Fibroblastic Neoplasm">Benign Fibroblastic Neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/104908" ref="tree=MeSH" title="MedGen record for Fibroepithelial neoplasm">Fibroepithelial neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/42016" ref="tree=MeSH" title="MedGen record for Fibroma">Fibroma</a></span></li><li><span class="TLline"><a href="/medgen/8836" ref="tree=MeSH" title="MedGen record for Fibromatosis">Fibromatosis</a></span></li><li><span class="TLline"><a href="/medgen/5178" ref="tree=MeSH" title="MedGen record for Fibrosarcoma">Fibrosarcoma</a></span></li><li><span class="TLline"><a href="/medgen/267592" ref="tree=MeSH" title="MedGen record for Histiocytoma">Histiocytoma</a></span></li><li><span class="TLline"><a href="/medgen/232929" ref="tree=MeSH" title="MedGen record for Infantile digital fibromatosis">Infantile digital fibromatosis</a></span></li><li><span class="TLline"><a href="/medgen/233565" ref="tree=MeSH" title="MedGen record for Intermediate Fibroblastic Neoplasm">Intermediate Fibroblastic Neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/61649" ref="tree=MeSH" title="MedGen record for Myofibromatosis">Myofibromatosis</a></span></li><li><span class="TLline"><a href="/medgen/138097" ref="tree=MeSH" title="MedGen record for Skin Fibroblastic Neoplasm">Skin Fibroblastic Neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/224764" ref="tree=MeSH" title="MedGen record for Solitary fibrous tumor">Solitary fibrous tumor</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/116049" ref="tree=MeSH" title="MedGen record for Gastrointestinal stromal tumor">Gastrointestinal stromal tumor</a></span><ul><li><span class="TLline"><a href="/medgen/473367" ref="tree=MeSH" title="MedGen record for Benign Gastrointestinal Stromal Tumor">Benign Gastrointestinal Stromal Tumor</a></span></li><li><span class="TLline"><a href="/medgen/906937" ref="tree=MeSH" title="MedGen record for Childhood Gastrointestinal Stromal Tumor">Childhood Gastrointestinal Stromal Tumor</a></span></li><li><span class="TLline"><a href="/medgen/43353" ref="tree=MeSH" title="MedGen record for Epithelioid Cell Type Gastrointestinal Stromal Tumor">Epithelioid Cell Type Gastrointestinal Stromal Tumor</a></span></li><li><span class="TLline"><a href="/medgen/234242" ref="tree=MeSH" title="MedGen record for Extragastrointestinal Gastrointestinal Stromal Tumor">Extragastrointestinal Gastrointestinal Stromal Tumor</a></span></li><li><span class="TLline"><a href="/medgen/232555" ref="tree=MeSH" title="MedGen record for Gastrointestinal Stromal Tumor of the Gastrointestinal Tract">Gastrointestinal Stromal Tumor of the Gastrointestinal Tract</a></span></li><li><span class="TLline"><a href="/medgen/312388" ref="tree=MeSH" title="MedGen record for Gastrointestinal Stromal Tumor of Uncertain Malignant Potential">Gastrointestinal Stromal Tumor of Uncertain Malignant Potential</a></span></li><li><span class="TLline"><a href="/medgen/465816" ref="tree=MeSH" title="MedGen record for Malignant Gastrointestinal Stromal Tumor">Malignant Gastrointestinal Stromal Tumor</a></span></li><li><span class="TLline"><a href="/medgen/277376" ref="tree=MeSH" title="MedGen record for Mixed Cell Type Gastrointestinal Stromal Tumor">Mixed Cell Type Gastrointestinal Stromal Tumor</a></span></li><li><span class="TLline"><a href="/medgen/925838" ref="tree=MeSH" title="MedGen record for Recurrent Gastrointestinal Stromal Tumor">Recurrent Gastrointestinal Stromal Tumor</a></span></li><li><span class="TLline"><a href="/medgen/236840" ref="tree=MeSH" title="MedGen record for Spindle Cell Type Gastrointestinal Stromal Tumor">Spindle Cell Type Gastrointestinal Stromal Tumor</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6598" ref="tree=MeSH" title="MedGen record for Giant cell tumor">Giant cell tumor</a></span><ul><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/87264" ref="tree=MeSH" title="MedGen record for Giant cell tumor of soft tissue">Giant cell tumor of soft tissue</a></span></li><li><span class="TLline"><a href="/medgen/90745" ref="tree=MeSH" title="MedGen record for Malignant giant cell tumor">Malignant giant cell tumor</a></span></li><li><span class="TLline"><a href="/medgen/232927" ref="tree=MeSH" title="MedGen record for Tenosynovial giant cell tumor">Tenosynovial giant cell tumor</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/9902" ref="tree=MeSH" title="MedGen record for Mastocytosis">Mastocytosis</a></span><ul><li><span class="TLline"><a href="/medgen/384518" ref="tree=MeSH" title="MedGen record for Benign mastocytoma">Benign mastocytoma</a></span></li><li><span class="TLline"><a href="/medgen/210143" ref="tree=MeSH" title="MedGen record for Cutaneous mastocytosis">Cutaneous mastocytosis</a></span></li><li><span class="TLline"><a href="/medgen/75774" ref="tree=MeSH" title="MedGen record for Extracutaneous mastocytoma">Extracutaneous mastocytoma</a></span></li><li><span class="TLline"><a href="/medgen/1642209" ref="tree=MeSH" title="MedGen record for Hepatic mastocytosis">Hepatic mastocytosis</a></span></li><li><span class="TLline"><a href="/medgen/11322" ref="tree=MeSH" title="MedGen record for Mast cell sarcoma">Mast cell sarcoma</a></span></li><li><span class="TLline"><a href="/medgen/67436" ref="tree=MeSH" title="MedGen record for Systemic mast cell disease">Systemic mast cell disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/220420" ref="tree=MeSH" title="MedGen record for Myofibroma">Myofibroma</a></span></li><li><span class="TLline"><a href="/medgen/224912" ref="tree=MeSH" title="MedGen record for Myopericytoma">Myopericytoma</a></span></li><li><span class="TLline"><a href="/medgen/10160" ref="tree=MeSH" title="MedGen record for Myxoma">Myxoma</a></span><ul><li><span class="TLline"><a href="/medgen/82658" ref="tree=MeSH" title="MedGen record for Cardiac Myxoma">Cardiac Myxoma</a></span></li><li><span class="TLline"><a href="/medgen/140810" ref="tree=MeSH" title="MedGen record for Carney complex">Carney complex</a></span></li><li><span class="TLline"><a href="/medgen/1780761" ref="tree=MeSH" title="MedGen record for Conjunctival Myxoma">Conjunctival Myxoma</a></span></li><li><span class="TLline"><a href="/medgen/232400" ref="tree=MeSH" title="MedGen record for Cutaneous myxoma">Cutaneous myxoma</a></span></li><li><span class="TLline"><a href="/medgen/232667" ref="tree=MeSH" title="MedGen record for Intramuscular Myxoma">Intramuscular Myxoma</a></span></li><li><span class="TLline"><a href="/medgen/233590" ref="tree=MeSH" title="MedGen record for Juxta-Articular Myxoma">Juxta-Articular Myxoma</a></span></li><li><span class="TLline"><a href="/medgen/64641" ref="tree=MeSH" title="MedGen record for Neurothekeoma">Neurothekeoma</a></span></li><li><span class="TLline"><a href="/medgen/235421" ref="tree=MeSH" title="MedGen record for Ovarian Myxoma">Ovarian Myxoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6508" ref="tree=MeSH" title="MedGen record for Myxosarcoma">Myxosarcoma</a></span></li><li><span class="TLline"><a href="/medgen/104905" ref="tree=MeSH" title="MedGen record for Neoplasms, Bone Tissue">Neoplasms, Bone Tissue</a></span><ul><li><span class="TLline"><a href="/medgen/104906" ref="tree=MeSH" title="MedGen record for Ossifying fibroma">Ossifying fibroma</a></span></li><li><span class="TLline"><a href="/medgen/10501" ref="tree=MeSH" title="MedGen record for Osteosarcoma">Osteosarcoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/60201" ref="tree=MeSH" title="MedGen record for Small cell sarcoma">Small cell sarcoma</a></span><ul><li><span class="TLline"><a href="/medgen/83833" ref="tree=MeSH" title="MedGen record for Desmoplastic small round cell tumor">Desmoplastic small round cell tumor</a></span></li><li><span class="TLline"><a href="/medgen/1714743" ref="tree=MeSH" title="MedGen record for EWSR1-negative small round cell tumor">EWSR1-negative small round cell tumor</a></span></li><li><span class="TLline"><a href="/medgen/1790023" ref="tree=MeSH" title="MedGen record for Round cell sarcoma with EWSR1-non-ETS fusion">Round cell sarcoma with EWSR1-non-ETS fusion</a></span></li><li><span class="TLline"><a href="/medgen/1791498" ref="tree=MeSH" title="MedGen record for Sarcoma with BCOR genetic alterations">Sarcoma with BCOR genetic alterations</a></span></li><li><span class="TLline"><a href="/medgen/83532" ref="tree=MeSH" title="MedGen record for Small cell osteogenic sarcoma">Small cell osteogenic sarcoma</a></span></li><li><span class="TLline"><a href="/medgen/1792899" ref="tree=MeSH" title="MedGen record for Uterine Corpus Central Primitive Neuroectodermal Tumor">Uterine Corpus Central Primitive Neuroectodermal Tumor</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/21050" ref="tree=MeSH" title="MedGen record for Synovial sarcoma">Synovial sarcoma</a></span><ul><li><span class="TLline"><a href="/medgen/75849" ref="tree=MeSH" title="MedGen record for Adult Synovial Sarcoma">Adult Synovial Sarcoma</a></span></li><li><span class="TLline"><a href="/medgen/137773" ref="tree=MeSH" title="MedGen record for Biphasic synovial sarcoma">Biphasic synovial sarcoma</a></span></li><li><span class="TLline"><a href="/medgen/310592" ref="tree=MeSH" title="MedGen record for Cardiac Synovial Sarcoma">Cardiac Synovial Sarcoma</a></span></li><li><span class="TLline"><a href="/medgen/79059" ref="tree=MeSH" title="MedGen record for Childhood Synovial Sarcoma">Childhood Synovial Sarcoma</a></span></li><li><span class="TLline"><a href="/medgen/459493" ref="tree=MeSH" title="MedGen record for Esophageal Synovial Sarcoma">Esophageal Synovial Sarcoma</a></span></li><li><span class="TLline"><a href="/medgen/474056" ref="tree=MeSH" title="MedGen record for Gastric Synovial Sarcoma">Gastric Synovial Sarcoma</a></span></li><li><span class="TLline"><a href="/medgen/1679617" ref="tree=MeSH" title="MedGen record for Kidney Synovial Sarcoma">Kidney Synovial Sarcoma</a></span></li><li><span class="TLline"><a href="/medgen/474708" ref="tree=MeSH" title="MedGen record for Liver Synovial Sarcoma">Liver Synovial Sarcoma</a></span></li><li><span class="TLline"><a href="/medgen/208947" ref="tree=MeSH" title="MedGen record for Localized Synovial Sarcoma">Localized Synovial Sarcoma</a></span></li><li><span class="TLline"><a href="/medgen/317853" ref="tree=MeSH" title="MedGen record for Lung Synovial Sarcoma">Lung Synovial Sarcoma</a></span></li><li><span class="TLline"><a href="/medgen/233174" ref="tree=MeSH" title="MedGen record for Mediastinum synovial sarcoma">Mediastinum synovial sarcoma</a></span></li><li><span class="TLline"><a href="/medgen/163189" ref="tree=MeSH" title="MedGen record for Metastatic Synovial Sarcoma">Metastatic Synovial Sarcoma</a></span></li><li><span class="TLline"><a href="/medgen/233719" ref="tree=MeSH" title="MedGen record for Monophasic synovial sarcoma">Monophasic synovial sarcoma</a></span></li><li><span class="TLline"><a href="/medgen/1647090" ref="tree=MeSH" title="MedGen record for Pericardial Synovial Sarcoma">Pericardial Synovial Sarcoma</a></span></li><li><span class="TLline"><a href="/medgen/311133" ref="tree=MeSH" title="MedGen record for Pleural Synovial Sarcoma">Pleural Synovial Sarcoma</a></span></li><li><span class="TLline"><a href="/medgen/1705866" ref="tree=MeSH" title="MedGen record for Prostate Synovial Sarcoma">Prostate Synovial Sarcoma</a></span></li><li><span class="TLline"><a href="/medgen/163190" ref="tree=MeSH" title="MedGen record for Recurrent Synovial Sarcoma">Recurrent Synovial Sarcoma</a></span></li><li><span class="TLline"><a href="/medgen/1664380" ref="tree=MeSH" title="MedGen record for Refractory Synovial Sarcoma">Refractory Synovial Sarcoma</a></span></li><li><span class="TLline"><a href="/medgen/1750111" ref="tree=MeSH" title="MedGen record for Sinonasal Synovial Sarcoma">Sinonasal Synovial Sarcoma</a></span></li><li><span class="TLline"><a href="/medgen/1660219" ref="tree=MeSH" title="MedGen record for Unresectable Synovial Sarcoma">Unresectable Synovial Sarcoma</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/41672" ref="tree=MeSH" title="MedGen record for Contracture of palmar fascia">Contracture of palmar fascia</a></span><ul><li><span class="TLline"><a href="/medgen/338840" ref="tree=MeSH" title="MedGen record for DUPUYTREN CONTRACTURE 1">DUPUYTREN CONTRACTURE 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/7401" ref="tree=MeSH" title="MedGen record for Cutaneous lupus erythematosus">Cutaneous lupus erythematosus</a></span><ul><li><span class="TLline"><a href="/medgen/7402" ref="tree=MeSH" title="MedGen record for Chronic discoid lupus erythematosus">Chronic discoid lupus erythematosus</a></span><ul><li><span class="TLline"><a href="/medgen/14589" ref="tree=MeSH" title="MedGen record for Lupus erythematosus panniculitis">Lupus erythematosus panniculitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/823139" ref="tree=MeSH" title="MedGen record for Drug Induced Cutaneous Lupus Erythematosus">Drug Induced Cutaneous Lupus Erythematosus</a></span></li><li><span class="TLline"><a href="/medgen/590566" ref="tree=MeSH" title="MedGen record for Lupus erythematosus tumidus">Lupus erythematosus tumidus</a></span></li><li><span class="TLline"><a href="/medgen/101066" ref="tree=MeSH" title="MedGen record for Rash of systemic lupus erythematosus">Rash of systemic lupus erythematosus</a></span></li><li><span class="TLline"><a href="/medgen/7403" ref="tree=MeSH" title="MedGen record for Subacute cutaneous lupus erythematosus">Subacute cutaneous lupus erythematosus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/56520" ref="tree=MeSH" title="MedGen record for Cutaneous mucinosis">Cutaneous mucinosis</a></span><ul><li><span class="TLline"><a href="/medgen/1419" ref="tree=MeSH" title="MedGen record for Alopecia mucinosa">Alopecia mucinosa</a></span></li><li><span class="TLline"><a href="/medgen/263633" ref="tree=MeSH" title="MedGen record for Ganglion cyst">Ganglion cyst</a></span></li><li><span class="TLline"><a href="/medgen/7733" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis">Mucopolysaccharidosis</a></span><ul><li><span class="TLline"><a href="/medgen/226942" ref="tree=MeSH" title="MedGen record for Deficiency of hyaluronoglucosaminidase">Deficiency of hyaluronoglucosaminidase</a></span></li><li><span class="TLline"><a href="/medgen/44513" ref="tree=MeSH" title="MedGen record for Morquio syndrome">Morquio syndrome</a></span></li><li><span class="TLline"><a href="/medgen/44171" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis type 1">Mucopolysaccharidosis type 1</a></span></li><li><span class="TLline"><a href="/medgen/44514" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis type 6">Mucopolysaccharidosis type 6</a></span></li><li><span class="TLline"><a href="/medgen/43108" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis type 7">Mucopolysaccharidosis type 7</a></span></li><li><span class="TLline"><a href="/medgen/7734" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-II">Mucopolysaccharidosis, MPS-II</a></span></li><li><span class="TLline"><a href="/medgen/6452" ref="tree=MeSH" title="MedGen record for Sanfilippo syndrome">Sanfilippo syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6506" ref="tree=MeSH" title="MedGen record for Myxedema">Myxedema</a></span></li><li><span class="TLline"><a href="/medgen/11346" ref="tree=MeSH" title="MedGen record for Scleredema">Scleredema</a></span></li><li><span class="TLline"><a href="/medgen/120476" ref="tree=MeSH" title="MedGen record for Scleromyxedema">Scleromyxedema</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8206" ref="tree=MeSH" title="MedGen record for Cutis laxa">Cutis laxa</a></span><ul><li><span class="TLline"><a href="/medgen/347942" ref="tree=MeSH" title="MedGen record for Arterial tortuosity syndrome">Arterial tortuosity syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78663" ref="tree=MeSH" title="MedGen record for Autosomal recessive cutis laxa type 1">Autosomal recessive cutis laxa type 1</a></span></li><li><span class="TLline"><a href="/medgen/393947" ref="tree=MeSH" title="MedGen record for Craniofaciofrontodigital syndrome">Craniofaciofrontodigital syndrome</a></span></li><li><span class="TLline"><a href="/medgen/442566" ref="tree=MeSH" title="MedGen record for Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies">Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies</a></span></li><li><span class="TLline"><a href="/medgen/120630" ref="tree=MeSH" title="MedGen record for Cutis laxa, autosomal dominant">Cutis laxa, autosomal dominant</a></span><ul><li><span class="TLline"><a href="/medgen/478169" ref="tree=MeSH" title="MedGen record for Cutis laxa, autosomal dominant 1">Cutis laxa, autosomal dominant 1</a></span></li><li><span class="TLline"><a href="/medgen/482424" ref="tree=MeSH" title="MedGen record for Cutis laxa, autosomal dominant 2">Cutis laxa, autosomal dominant 2</a></span></li><li><span class="TLline"><a href="/medgen/899774" ref="tree=MeSH" title="MedGen record for Cutis laxa, autosomal dominant 3">Cutis laxa, autosomal dominant 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82793" ref="tree=MeSH" title="MedGen record for Cutis laxa, X-linked">Cutis laxa, X-linked</a></span></li><li><span class="TLline"><a href="/medgen/82794" ref="tree=MeSH" title="MedGen record for de Barsy syndrome">de Barsy syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1720006" ref="tree=MeSH" title="MedGen record for ALDH18A1-related de Barsy syndrome">ALDH18A1-related de Barsy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/482429" ref="tree=MeSH" title="MedGen record for PYCR1-related de Barsy syndrome">PYCR1-related de Barsy syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/98149" ref="tree=MeSH" title="MedGen record for Geroderma osteodysplastica">Geroderma osteodysplastica</a></span></li><li><span class="TLline"><a href="/medgen/1673111" ref="tree=MeSH" title="MedGen record for Lethal arteriopathy syndrome due to fibulin-4 deficiency">Lethal arteriopathy syndrome due to fibulin-4 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/154379" ref="tree=MeSH" title="MedGen record for Redundant skin">Redundant skin</a></span><ul><li><span class="TLline"><a href="/medgen/322692" ref="tree=MeSH" title="MedGen record for Redundant skin in infancy">Redundant skin in infancy</a></span></li><li><span class="TLline"><a href="/medgen/870411" ref="tree=MeSH" title="MedGen record for Redundant skin on fingers">Redundant skin on fingers</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/416526" ref="tree=MeSH" title="MedGen record for RIN2 syndrome">RIN2 syndrome</a></span></li><li><span class="TLline"><a href="/medgen/326461" ref="tree=MeSH" title="MedGen record for SCARF syndrome">SCARF syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8331" ref="tree=MeSH" title="MedGen record for Dermatomyositis">Dermatomyositis</a></span><ul><li><span class="TLline"><a href="/medgen/66356" ref="tree=MeSH" title="MedGen record for Adult dermatomyositis">Adult dermatomyositis</a></span></li><li><span class="TLline"><a href="/medgen/120486" ref="tree=MeSH" title="MedGen record for Childhood type dermatomyositis">Childhood type dermatomyositis</a></span><ul><li><span class="TLline"><a href="/medgen/858244" ref="tree=MeSH" title="MedGen record for Juvenile Dermatomyositis Sine Myositis">Juvenile Dermatomyositis Sine Myositis</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/473110" ref="tree=MeSH" title="MedGen record for Hereditary disorder of connective tissue">Hereditary disorder of connective tissue</a></span><ul><li><span class="TLline"><a href="/medgen/396965" ref="tree=MeSH" title="MedGen record for COL1A1 Associated Connective Tissue Disorder">COL1A1 Associated Connective Tissue Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/41720" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome">Ehlers-Danlos syndrome</a></span></li><li><span class="TLline"><a href="/medgen/45246" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta">Osteogenesis imperfecta</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/44287" ref="tree=MeSH" title="MedGen record for Marfan syndrome">Marfan syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/443966" ref="tree=MeSH" title="MedGen record for Loeys-Dietz Syndrome Type 2">Loeys-Dietz Syndrome Type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/4612" ref="tree=MeSH" title="MedGen record for Multiple congenital exostosis">Multiple congenital exostosis</a></span><ul><li><span class="TLline"><a href="/medgen/377018" ref="tree=MeSH" title="MedGen record for Exostoses, multiple, type 2">Exostoses, multiple, type 2</a></span></li><li><span class="TLline"><a href="/medgen/333090" ref="tree=MeSH" title="MedGen record for Exostoses, multiple, type III">Exostoses, multiple, type III</a></span></li><li><span class="TLline"><a href="/medgen/870708" ref="tree=MeSH" title="MedGen record for Multiple digital exostoses">Multiple digital exostoses</a></span></li><li><span class="TLline"><a href="/medgen/332012" ref="tree=MeSH" title="MedGen record for Multiple long-bone exostoses">Multiple long-bone exostoses</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/42485" ref="tree=MeSH" title="MedGen record for Homocystinuria">Homocystinuria</a></span><ul><li><span class="TLline"><a href="/medgen/75697" ref="tree=MeSH" title="MedGen record for Arakawa syndrome 2">Arakawa syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/108623" ref="tree=MeSH" title="MedGen record for Hyperhomocysteinemia">Hyperhomocysteinemia</a></span></li><li><span class="TLline"><a href="/medgen/344640" ref="tree=MeSH" title="MedGen record for Methylcobalamin deficiency type cblE">Methylcobalamin deficiency type cblE</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10629" ref="tree=MeSH" title="MedGen record for Induratio penis plastica">Induratio penis plastica</a></span></li><li><span class="TLline"><a href="/medgen/451048" ref="tree=MeSH" title="MedGen record for Lipedema">Lipedema</a></span></li><li><span class="TLline"><a href="/medgen/48586" ref="tree=MeSH" title="MedGen record for Localized scleroderma">Localized scleroderma</a></span><ul><li><span class="TLline"><a href="/medgen/859215" ref="tree=MeSH" title="MedGen record for Circumscribed Morphea">Circumscribed Morphea</a></span><ul><li><span class="TLline"><a href="/medgen/890206" ref="tree=MeSH" title="MedGen record for Deep Circumscribed Morphea">Deep Circumscribed Morphea</a></span></li><li><span class="TLline"><a href="/medgen/712436" ref="tree=MeSH" title="MedGen record for Plaque morphea">Plaque morphea</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/858243" ref="tree=MeSH" title="MedGen record for Disabling pansclerotic morphea of childhood">Disabling pansclerotic morphea of childhood</a></span></li><li><span class="TLline"><a href="/medgen/538045" ref="tree=MeSH" title="MedGen record for Generalized morphea">Generalized morphea</a></span></li><li><span class="TLline"><a href="/medgen/75518" ref="tree=MeSH" title="MedGen record for Linear scleroderma">Linear scleroderma</a></span><ul><li><span class="TLline"><a href="/medgen/581116" ref="tree=MeSH" title="MedGen record for Coup de sabre scleroderma">Coup de sabre scleroderma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/857874" ref="tree=MeSH" title="MedGen record for Mixed Morphea">Mixed Morphea</a></span></li><li><span class="TLline"><a href="/medgen/857586" ref="tree=MeSH" title="MedGen record for Pansclerotic Morphea">Pansclerotic Morphea</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10069" ref="tree=MeSH" title="MedGen record for Mixed connective tissue disease">Mixed connective tissue disease</a></span></li><li><span class="TLline"><a href="/medgen/277422" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Bone Disorder">Non-Neoplastic Bone Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/1289" ref="tree=MeSH" title="MedGen record for Achondroplasia">Achondroplasia</a></span><ul><li><span class="TLline"><a href="/medgen/21124" ref="tree=MeSH" title="MedGen record for Thanatophoric dysplasia">Thanatophoric dysplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/183017" ref="tree=MeSH" title="MedGen record for Acroosteolysis">Acroosteolysis</a></span><ul><li><span class="TLline"><a href="/medgen/182961" ref="tree=MeSH" title="MedGen record for Hajdu-Cheney syndrome">Hajdu-Cheney syndrome</a></span></li><li><span class="TLline"><a href="/medgen/866560" ref="tree=MeSH" title="MedGen record for Osteolytic defect of thumb phalanx">Osteolytic defect of thumb phalanx</a></span></li><li><span class="TLline"><a href="/medgen/867085" ref="tree=MeSH" title="MedGen record for Osteolytic defects of the phalanges of the 2nd finger">Osteolytic defects of the phalanges of the 2nd finger</a></span></li><li><span class="TLline"><a href="/medgen/867114" ref="tree=MeSH" title="MedGen record for Osteolytic defects of the phalanges of the 3rd finger">Osteolytic defects of the phalanges of the 3rd finger</a></span></li><li><span class="TLline"><a href="/medgen/892409" ref="tree=MeSH" title="MedGen record for Osteolytic defects of the phalanges of the 4th finger">Osteolytic defects of the phalanges of the 4th finger</a></span></li><li><span class="TLline"><a href="/medgen/867314" ref="tree=MeSH" title="MedGen record for Osteolytic defects of the phalanges of the 5th finger">Osteolytic defects of the phalanges of the 5th finger</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2309" ref="tree=MeSH" title="MedGen record for Bone development disease">Bone development disease</a></span><ul><li><span class="TLline"><a href="/medgen/5293" ref="tree=MeSH" title="MedGen record for Congenital pectus excavatum">Congenital pectus excavatum</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/4430" ref="tree=MeSH" title="MedGen record for Dysostosis">Dysostosis</a></span></li><li><span class="TLline"><a href="/medgen/6602" ref="tree=MeSH" title="MedGen record for Gigantism">Gigantism</a></span></li><li><span class="TLline"><a href="/medgen/2554" ref="tree=MeSH" title="MedGen record for Gorlin syndrome">Gorlin syndrome</a></span></li><li><span class="TLline"><a href="/medgen/44089" ref="tree=MeSH" title="MedGen record for Lower limb asymmetry">Lower limb asymmetry</a></span></li><li><span class="TLline"><a href="/medgen/339524" ref="tree=MeSH" title="MedGen record for Odontoid hypoplasia">Odontoid hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/10495" ref="tree=MeSH" title="MedGen record for Osteochondrodysplasia">Osteochondrodysplasia</a></span></li><li><span class="TLline"><a href="/medgen/45959" ref="tree=MeSH" title="MedGen record for Platybasia">Platybasia</a></span></li><li><span class="TLline"><a href="/medgen/39008" ref="tree=MeSH" title="MedGen record for Proteus syndrome">Proteus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/3931" ref="tree=MeSH" title="MedGen record for Severe short stature">Severe short stature</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/167915" ref="tree=MeSH" title="MedGen record for Bone Infarction">Bone Infarction</a></span></li><li><span class="TLline"><a href="/medgen/45249" ref="tree=MeSH" title="MedGen record for Bone necrosis">Bone necrosis</a></span><ul><li><span class="TLline"><a href="/medgen/105445" ref="tree=MeSH" title="MedGen record for Aseptic Necrosis of Bone">Aseptic Necrosis of Bone</a></span></li><li><span class="TLline"><a href="/medgen/10200" ref="tree=MeSH" title="MedGen record for Avascular necrosis">Avascular necrosis</a></span></li><li><span class="TLline"><a href="/medgen/458762" ref="tree=MeSH" title="MedGen record for Bisphosphonate-Associated Osteonecrosis">Bisphosphonate-Associated Osteonecrosis</a></span></li><li><span class="TLline"><a href="/medgen/6035" ref="tree=MeSH" title="MedGen record for Coxa plana">Coxa plana</a></span></li><li><span class="TLline"><a href="/medgen/8811" ref="tree=MeSH" title="MedGen record for Femur Head Necrosis">Femur Head Necrosis</a></span></li><li><span class="TLline"><a href="/medgen/1803504" ref="tree=MeSH" title="MedGen record for Idiopathic phalangeal acro-osteolysis">Idiopathic phalangeal acro-osteolysis</a></span></li><li><span class="TLline"><a href="/medgen/1708314" ref="tree=MeSH" title="MedGen record for Mueller-weiss syndrome">Mueller-weiss syndrome</a></span></li><li><span class="TLline"><a href="/medgen/465245" ref="tree=MeSH" title="MedGen record for Osteonecrosis of jaw caused by bisphosphonate">Osteonecrosis of jaw caused by bisphosphonate</a></span></li><li><span class="TLline"><a href="/medgen/751019" ref="tree=MeSH" title="MedGen record for Osteonecrosis of the jaw">Osteonecrosis of the jaw</a></span></li><li><span class="TLline"><a href="/medgen/10500" ref="tree=MeSH" title="MedGen record for Osteoradionecrosis">Osteoradionecrosis</a></span></li><li><span class="TLline"><a href="/medgen/713081" ref="tree=MeSH" title="MedGen record for Osteoradionecrosis of the mandible">Osteoradionecrosis of the mandible</a></span></li><li><span class="TLline"><a href="/medgen/777109" ref="tree=MeSH" title="MedGen record for Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans">Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1791595" ref="tree=MeSH" title="MedGen record for Bone Rosai-Dorfman-Destombes Disease">Bone Rosai-Dorfman-Destombes Disease</a></span></li><li><span class="TLline"><a href="/medgen/935" ref="tree=MeSH" title="MedGen record for Cartilage development disorder">Cartilage development disorder</a></span></li><li><span class="TLline"><a href="/medgen/82717" ref="tree=MeSH" title="MedGen record for Congenital deformity of hip joint">Congenital deformity of hip joint</a></span></li><li><span class="TLline"><a href="/medgen/539398" ref="tree=MeSH" title="MedGen record for Congenital pseudoarthrosis of the tibia">Congenital pseudoarthrosis of the tibia</a></span></li><li><span class="TLline"><a href="/medgen/107896" ref="tree=MeSH" title="MedGen record for Deformity of spine">Deformity of spine</a></span><ul><li><span class="TLline"><a href="/medgen/9805" ref="tree=MeSH" title="MedGen record for Hyperlordosis">Hyperlordosis</a></span></li><li><span class="TLline"><a href="/medgen/44042" ref="tree=MeSH" title="MedGen record for Kyphosis">Kyphosis</a></span></li><li><span class="TLline"><a href="/medgen/11348" ref="tree=MeSH" title="MedGen record for Scoliosis">Scoliosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/451081" ref="tree=MeSH" title="MedGen record for Enthesitis">Enthesitis</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/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/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></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/9367" ref="tree=MeSH" title="MedGen record for Hyperostosis interna frontalis">Hyperostosis interna frontalis</a></span></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></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/412197" ref="tree=MeSH" title="MedGen record for Infection of bone">Infection of bone</a></span><ul><li><span class="TLline"><a href="/medgen/57850" ref="tree=MeSH" title="MedGen record for Infectious disorder of joint">Infectious disorder of joint</a></span></li><li><span class="TLline"><a href="/medgen/10497" ref="tree=MeSH" title="MedGen record for Osteomyelitis">Osteomyelitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2699" ref="tree=MeSH" title="MedGen record for Metabolic bone disorder">Metabolic bone disorder</a></span><ul><li><span class="TLline"><a href="/medgen/116641" ref="tree=MeSH" title="MedGen record for Bone Demineralization, Pathologic">Bone Demineralization, Pathologic</a></span></li><li><span class="TLline"><a href="/medgen/10493" ref="tree=MeSH" title="MedGen record for Bone Paget disease">Bone Paget disease</a></span></li><li><span class="TLline"><a href="/medgen/7731" ref="tree=MeSH" title="MedGen record for Mucolipidosis">Mucolipidosis</a></span></li><li><span class="TLline"><a href="/medgen/14533" ref="tree=MeSH" title="MedGen record for Osteomalacia">Osteomalacia</a></span></li><li><span class="TLline"><a href="/medgen/14535" ref="tree=MeSH" title="MedGen record for Osteoporosis">Osteoporosis</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/46178" ref="tree=MeSH" title="MedGen record for Pseudohypoparathyroidism">Pseudohypoparathyroidism</a></span></li><li><span class="TLline"><a href="/medgen/48470" ref="tree=MeSH" title="MedGen record for Rickets">Rickets</a></span></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/18216" ref="tree=MeSH" title="MedGen record for Osteochondrosis">Osteochondrosis</a></span><ul><li><span class="TLline"><a href="/medgen/82674" ref="tree=MeSH" title="MedGen record for Familial osteoarthropathy of the fingers">Familial osteoarthropathy of the fingers</a></span></li><li><span class="TLline"><a href="/medgen/75532" ref="tree=MeSH" title="MedGen record for Freiberg disease">Freiberg disease</a></span></li><li><span class="TLline"><a href="/medgen/152663" ref="tree=MeSH" title="MedGen record for Juvenile osteochondritis">Juvenile osteochondritis</a></span></li><li><span class="TLline"><a href="/medgen/19885" ref="tree=MeSH" title="MedGen record for Juvenile osteochondrosis of spine">Juvenile osteochondrosis of spine</a></span></li><li><span class="TLline"><a href="/medgen/730669" ref="tree=MeSH" title="MedGen record for Legg-Calve-Perthes disease">Legg-Calve-Perthes disease</a></span></li><li><span class="TLline"><a href="/medgen/1710994" ref="tree=MeSH" title="MedGen record for Medial condensing osteitis of the clavicle">Medial condensing osteitis of the clavicle</a></span></li><li><span class="TLline"><a href="/medgen/44028" ref="tree=MeSH" title="MedGen record for Morbus Kienboeck">Morbus Kienboeck</a></span></li><li><span class="TLline"><a href="/medgen/10489" ref="tree=MeSH" title="MedGen record for Morbus Osgood-Schlatter">Morbus Osgood-Schlatter</a></span></li><li><span class="TLline"><a href="/medgen/510539" ref="tree=MeSH" title="MedGen record for Osteochondritis of tarsal/metatarsal bone">Osteochondritis of tarsal/metatarsal bone</a></span></li><li><span class="TLline"><a href="/medgen/96910" ref="tree=MeSH" title="MedGen record for Osteochondrosis of Spine">Osteochondrosis of Spine</a></span></li><li><span class="TLline"><a href="/medgen/1673235" ref="tree=MeSH" title="MedGen record for Panner disease">Panner disease</a></span></li><li><span class="TLline"><a href="/medgen/1672493" ref="tree=MeSH" title="MedGen record for Sinding-Larsen-Johansson disease">Sinding-Larsen-Johansson disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/18223" ref="tree=MeSH" title="MedGen record for Osteopetrosis">Osteopetrosis</a></span><ul><li><span class="TLline"><a href="/medgen/930809" ref="tree=MeSH" title="MedGen record for 12q14 microdeletion syndrome">12q14 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/929406" ref="tree=MeSH" title="MedGen record for Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome">Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1378401" ref="tree=MeSH" title="MedGen record for Autosomal dominant osteopetrosis">Autosomal dominant osteopetrosis</a></span></li><li><span class="TLline"><a href="/medgen/335932" ref="tree=MeSH" title="MedGen record for Autosomal dominant osteopetrosis 1">Autosomal dominant osteopetrosis 1</a></span></li><li><span class="TLline"><a href="/medgen/465707" ref="tree=MeSH" title="MedGen record for Autosomal dominant osteopetrosis 2">Autosomal dominant osteopetrosis 2</a></span></li><li><span class="TLline"><a href="/medgen/1385510" ref="tree=MeSH" title="MedGen record for Autosomal recessive osteopetrosis">Autosomal recessive osteopetrosis</a></span></li><li><span class="TLline"><a href="/medgen/409754" ref="tree=MeSH" title="MedGen record for Autosomal recessive osteopetrosis 6">Autosomal recessive osteopetrosis 6</a></span></li><li><span class="TLline"><a href="/medgen/436770" ref="tree=MeSH" title="MedGen record for Autosomal recessive osteopetrosis 7">Autosomal recessive osteopetrosis 7</a></span></li><li><span class="TLline"><a href="/medgen/98482" ref="tree=MeSH" title="MedGen record for Axial osteosclerosis">Axial osteosclerosis</a></span></li><li><span class="TLline"><a href="/medgen/934592" ref="tree=MeSH" title="MedGen record for Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness">Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness</a></span></li><li><span class="TLline"><a href="/medgen/120545" ref="tree=MeSH" title="MedGen record for Dermatofibrosis lenticularis disseminata">Dermatofibrosis lenticularis disseminata</a></span></li><li><span class="TLline"><a href="/medgen/98150" ref="tree=MeSH" title="MedGen record for Dysosteosclerosis">Dysosteosclerosis</a></span></li><li><span class="TLline"><a href="/medgen/1805057" ref="tree=MeSH" title="MedGen record for Early-onset calcifying leukoencephalopathy-skeletal dysplasia">Early-onset calcifying leukoencephalopathy-skeletal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/373924" ref="tree=MeSH" title="MedGen record for Infantile osteopetrosis with neuroaxonal dysplasia">Infantile osteopetrosis with neuroaxonal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/318940" ref="tree=MeSH" title="MedGen record for Isolated osteopoikilosis">Isolated osteopoikilosis</a></span></li><li><span class="TLline"><a href="/medgen/411605" ref="tree=MeSH" title="MedGen record for Leukocyte adhesion deficiency 3">Leukocyte adhesion deficiency 3</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/461045" ref="tree=MeSH" title="MedGen record for Melorheostosis with osteopoikilosis">Melorheostosis with osteopoikilosis</a></span></li><li><span class="TLline"><a href="/medgen/1373678" ref="tree=MeSH" title="MedGen record for Osteoclast-Rich Osteopetrosis">Osteoclast-Rich Osteopetrosis</a></span></li><li><span class="TLline"><a href="/medgen/96590" ref="tree=MeSH" title="MedGen record for Osteopathia striata with cranial sclerosis">Osteopathia striata with cranial sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/91042" ref="tree=MeSH" title="MedGen record for Osteopetrosis with renal tubular acidosis">Osteopetrosis with renal tubular acidosis</a></span></li><li><span class="TLline"><a href="/medgen/767579" ref="tree=MeSH" title="MedGen record for Osteosclerotic metaphyseal dysplasia">Osteosclerotic metaphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/116061" ref="tree=MeSH" title="MedGen record for Pyknodysostosis">Pyknodysostosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45251" ref="tree=MeSH" title="MedGen record for Osteopoikilosis">Osteopoikilosis</a></span></li><li><span class="TLline"><a href="/medgen/236838" ref="tree=MeSH" title="MedGen record for Spinal Degenerative Disorder">Spinal Degenerative Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/102357" ref="tree=MeSH" title="MedGen record for Intervertebral disk degeneration">Intervertebral disk degeneration</a></span></li><li><span class="TLline"><a href="/medgen/120488" ref="tree=MeSH" title="MedGen record for Spinal arthritis deformans">Spinal arthritis deformans</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/52470" ref="tree=MeSH" title="MedGen record for Spondylolisthesis">Spondylolisthesis</a></span><ul><li><span class="TLline"><a href="/medgen/477430" ref="tree=MeSH" title="MedGen record for Spondylolisthesis at L5-S1">Spondylolisthesis at L5-S1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/21294" ref="tree=MeSH" title="MedGen record for Spondylolysis">Spondylolysis</a></span><ul><li><span class="TLline"><a href="/medgen/163399" ref="tree=MeSH" title="MedGen record for Congenital spondylolysis">Congenital spondylolysis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/104499" ref="tree=MeSH" title="MedGen record for Tibia vara">Tibia vara</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/18073" ref="tree=MeSH" title="MedGen record for Noonan syndrome">Noonan syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1638960" ref="tree=MeSH" title="MedGen record for Noonan syndrome 1">Noonan syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/344290" ref="tree=MeSH" title="MedGen record for Noonan syndrome 2">Noonan syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/349931" ref="tree=MeSH" title="MedGen record for Noonan syndrome 3">Noonan syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/339908" ref="tree=MeSH" title="MedGen record for Noonan syndrome 4">Noonan syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/370589" ref="tree=MeSH" title="MedGen record for Noonan syndrome 5">Noonan syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/413028" ref="tree=MeSH" title="MedGen record for Noonan syndrome 6">Noonan syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/462320" ref="tree=MeSH" title="MedGen record for Noonan syndrome 7">Noonan syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/815563" ref="tree=MeSH" title="MedGen record for Noonan syndrome 8">Noonan syndrome 8</a></span></li><li><span class="TLline"><a href="/medgen/896352" ref="tree=MeSH" title="MedGen record for Noonan syndrome 9">Noonan syndrome 9</a></span></li><li><span class="TLline"><a href="/medgen/902892" ref="tree=MeSH" title="MedGen record for Noonan syndrome 10">Noonan syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/1681177" ref="tree=MeSH" title="MedGen record for Noonan syndrome 11">Noonan syndrome 11</a></span></li><li><span class="TLline"><a href="/medgen/1684730" ref="tree=MeSH" title="MedGen record for Noonan syndrome 12">Noonan syndrome 12</a></span></li><li><span class="TLline"><a href="/medgen/1761918" ref="tree=MeSH" title="MedGen record for Noonan syndrome 13">Noonan syndrome 13</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45301" ref="tree=MeSH" title="MedGen record for Panniculitis">Panniculitis</a></span><ul><li><span class="TLline"><a href="/medgen/41857" ref="tree=MeSH" title="MedGen record for Erythema induratum">Erythema induratum</a></span></li><li><span class="TLline"><a href="/medgen/10559" ref="tree=MeSH" title="MedGen record for Nodular non-suppurative panniculitis">Nodular non-suppurative panniculitis</a></span></li><li><span class="TLline"><a href="/medgen/10560" ref="tree=MeSH" title="MedGen record for Peritoneal Panniculitis">Peritoneal Panniculitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/56385" ref="tree=MeSH" title="MedGen record for Plantar fibromatosis">Plantar fibromatosis</a></span></li><li><span class="TLline"><a href="/medgen/18733" ref="tree=MeSH" title="MedGen record for Pseudoxanthoma elasticum">Pseudoxanthoma elasticum</a></span><ul><li><span class="TLline"><a href="/medgen/698082" ref="tree=MeSH" title="MedGen record for Acquired pseudoxanthoma elasticum">Acquired pseudoxanthoma elasticum</a></span></li><li><span class="TLline"><a href="/medgen/698415" ref="tree=MeSH" title="MedGen record for Autosomal recessive inherited pseudoxanthoma elasticum">Autosomal recessive inherited pseudoxanthoma elasticum</a></span></li><li><span class="TLline"><a href="/medgen/697574" ref="tree=MeSH" title="MedGen record for Inherited pseudoxanthoma elasticum">Inherited pseudoxanthoma elasticum</a></span><ul><li><span class="TLline"><a href="/medgen/357280" ref="tree=MeSH" title="MedGen record for Pseudoxanthoma elasticum, forme fruste">Pseudoxanthoma elasticum, forme fruste</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/3157" ref="tree=MeSH" title="MedGen record for Rheumatic disorder">Rheumatic disorder</a></span><ul><li><span class="TLline"><a href="/medgen/11561" ref="tree=MeSH" title="MedGen record for Ankylosing spondylitis">Ankylosing spondylitis</a></span></li><li><span class="TLline"><a href="/medgen/37179" ref="tree=MeSH" title="MedGen record for Epidermolysis bullosa dystrophica">Epidermolysis bullosa dystrophica</a></span><ul><li><span class="TLline"><a href="/medgen/266151" ref="tree=MeSH" title="MedGen record for Epidermolysis bullosa pruriginosa">Epidermolysis bullosa pruriginosa</a></span></li><li><span class="TLline"><a href="/medgen/140935" ref="tree=MeSH" title="MedGen record for Generalized dominant dystrophic epidermolysis bullosa">Generalized dominant dystrophic epidermolysis bullosa</a></span></li><li><span class="TLline"><a href="/medgen/634276" ref="tree=MeSH" title="MedGen record for Localized dystrophic epidermolysis bullosa">Localized dystrophic epidermolysis bullosa</a></span></li><li><span class="TLline"><a href="/medgen/36311" ref="tree=MeSH" title="MedGen record for Recessive dystrophic epidermolysis bullosa">Recessive dystrophic epidermolysis bullosa</a></span></li><li><span class="TLline"><a href="/medgen/698413" ref="tree=MeSH" title="MedGen record for Recessive dystrophic epidermolysis bullosa inversa">Recessive dystrophic epidermolysis bullosa inversa</a></span></li><li><span class="TLline"><a href="/medgen/1392226" ref="tree=MeSH" title="MedGen record for Recessive dystrophic epidermolysis bullosa-generalized other">Recessive dystrophic epidermolysis bullosa-generalized other</a></span></li><li><span class="TLline"><a href="/medgen/343607" ref="tree=MeSH" title="MedGen record for Transient bullous dermolysis of the newborn">Transient bullous dermolysis of the newborn</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10305" ref="tree=MeSH" title="MedGen record for Hereditary nephritis">Hereditary nephritis</a></span></li><li><span class="TLline"><a href="/medgen/7197" ref="tree=MeSH" title="MedGen record for Keloid">Keloid</a></span><ul><li><span class="TLline"><a href="/medgen/1720" ref="tree=MeSH" title="MedGen record for Acne keloid">Acne keloid</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/98043" ref="tree=MeSH" title="MedGen record for Lupus erythematosus">Lupus erythematosus</a></span><ul><li><span class="TLline"><a href="/medgen/156265" ref="tree=MeSH" title="MedGen record for Central nervous system lupus">Central nervous system lupus</a></span></li><li><span class="TLline"><a href="/medgen/537988" ref="tree=MeSH" title="MedGen record for Drug-induced lupus erythematosus">Drug-induced lupus erythematosus</a></span></li><li><span class="TLline"><a href="/medgen/883752" ref="tree=MeSH" title="MedGen record for Lupus Flare">Lupus Flare</a></span></li><li><span class="TLline"><a href="/medgen/98372" ref="tree=MeSH" title="MedGen record for Neonatal lupus erythematosus">Neonatal lupus erythematosus</a></span></li><li><span class="TLline"><a href="/medgen/6146" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus">Systemic lupus erythematosus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/102470" ref="tree=MeSH" title="MedGen record for Necrobiosis">Necrobiosis</a></span><ul><li><span class="TLline"><a href="/medgen/88319" ref="tree=MeSH" title="MedGen record for Granuloma annulare">Granuloma annulare</a></span></li><li><span class="TLline"><a href="/medgen/45021" ref="tree=MeSH" title="MedGen record for Necrobiosis lipoidica">Necrobiosis lipoidica</a></span></li><li><span class="TLline"><a href="/medgen/266158" ref="tree=MeSH" title="MedGen record for Necrobiotic xanthogranuloma">Necrobiotic xanthogranuloma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/19393" ref="tree=MeSH" title="MedGen record for Polymyalgia rheumatica">Polymyalgia rheumatica</a></span></li><li><span class="TLline"><a href="/medgen/39086" ref="tree=MeSH" title="MedGen record for Polymyositis">Polymyositis</a></span><ul><li><span class="TLline"><a href="/medgen/819736" ref="tree=MeSH" title="MedGen record for Juvenile polymyositis">Juvenile polymyositis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2078" ref="tree=MeSH" title="MedGen record for Rheumatoid arthritis">Rheumatoid arthritis</a></span><ul><li><span class="TLline"><a href="/medgen/39007" ref="tree=MeSH" title="MedGen record for Adult-onset Still disease">Adult-onset Still disease</a></span></li><li><span class="TLline"><a href="/medgen/743" ref="tree=MeSH" title="MedGen record for Caplan syndrome">Caplan syndrome</a></span></li><li><span class="TLline"><a href="/medgen/858872" ref="tree=MeSH" title="MedGen record for Early Rheumatoid Arthritis">Early Rheumatoid Arthritis</a></span></li><li><span class="TLline"><a href="/medgen/4674" ref="tree=MeSH" title="MedGen record for Felty syndrome">Felty syndrome</a></span></li><li><span class="TLline"><a href="/medgen/88662" ref="tree=MeSH" title="MedGen record for Juvenile onset Still disease">Juvenile onset Still disease</a></span></li><li><span class="TLline"><a href="/medgen/811462" ref="tree=MeSH" title="MedGen record for Juvenile rheumatoid arthritis">Juvenile rheumatoid arthritis</a></span></li><li><span class="TLline"><a href="/medgen/19781" ref="tree=MeSH" title="MedGen record for Rheumatoid nodule">Rheumatoid nodule</a></span></li><li><span class="TLline"><a href="/medgen/69122" ref="tree=MeSH" title="MedGen record for Rheumatoid vasculitis">Rheumatoid vasculitis</a></span></li><li><span class="TLline"><a href="/medgen/592547" ref="tree=MeSH" title="MedGen record for Seropositive rheumatoid arthritis">Seropositive rheumatoid arthritis</a></span></li><li><span class="TLline"><a href="/medgen/282890" ref="tree=MeSH" title="MedGen record for Sjogren syndrome">Sjogren syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3770" ref="tree=MeSH" title="MedGen record for Scleroderma">Scleroderma</a></span><ul><li><span class="TLline"><a href="/medgen/1613012" ref="tree=MeSH" title="MedGen record for Proximal scleroderma">Proximal scleroderma</a></span></li><li><span class="TLline"><a href="/medgen/853197" ref="tree=MeSH" title="MedGen record for Scleroderma Renal Crisis">Scleroderma Renal Crisis</a></span></li><li><span class="TLline"><a href="/medgen/19897" ref="tree=MeSH" title="MedGen record for Systemic sclerosis">Systemic sclerosis</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/48447" ref="tree=MeSH" title="MedGen record for Rheumatism">Rheumatism</a></span><ul><li><span class="TLline"><a href="/medgen/42018" ref="tree=MeSH" title="MedGen record for Fibromyalgia">Fibromyalgia</a></span><ul><li><span class="TLline"><a href="/medgen/856247" ref="tree=MeSH" title="MedGen record for Juvenile Primary Fibromyalgia Syndrome">Juvenile Primary Fibromyalgia Syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/42280" ref="tree=MeSH" title="MedGen record for Gout">Gout</a></span><ul><li><span class="TLline"><a href="/medgen/406" ref="tree=MeSH" title="MedGen record for Gouty arthropathy">Gouty arthropathy</a></span></li><li><span class="TLline"><a href="/medgen/450998" ref="tree=MeSH" title="MedGen record for Podagra">Podagra</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/760659" ref="tree=MeSH" title="MedGen record for Juvenile idiopathic arthritis">Juvenile idiopathic arthritis</a></span><ul><li><span class="TLline"><a href="/medgen/854059" ref="tree=MeSH" title="MedGen record for Enthesitis-related juvenile idiopathic arthritis">Enthesitis-related juvenile idiopathic arthritis</a></span></li><li><span class="TLline"><a href="/medgen/443993" ref="tree=MeSH" title="MedGen record for Oligoarticular juvenile idiopathic arthritis">Oligoarticular juvenile idiopathic arthritis</a></span></li><li><span class="TLline"><a href="/medgen/811463" ref="tree=MeSH" title="MedGen record for Psoriasis-related juvenile idiopathic arthritis">Psoriasis-related juvenile idiopathic arthritis</a></span></li><li><span class="TLline"><a href="/medgen/855520" ref="tree=MeSH" title="MedGen record for Psoriatic Juvenile Idiopathic Arthritis">Psoriatic Juvenile Idiopathic Arthritis</a></span></li><li><span class="TLline"><a href="/medgen/855549" ref="tree=MeSH" title="MedGen record for Rheumatoid factor-negative juvenile idiopathic arthritis">Rheumatoid factor-negative juvenile idiopathic arthritis</a></span></li><li><span class="TLline"><a href="/medgen/855737" ref="tree=MeSH" title="MedGen record for Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis">Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis</a></span></li><li><span class="TLline"><a href="/medgen/730498" ref="tree=MeSH" title="MedGen record for Systemic onset juvenile chronic arthritis">Systemic onset juvenile chronic arthritis</a></span></li><li><span class="TLline"><a href="/medgen/346934" ref="tree=MeSH" title="MedGen record for Systemic-onset juvenile idiopathic arthritis">Systemic-onset juvenile idiopathic arthritis</a></span></li><li><span class="TLline"><a href="/medgen/856839" ref="tree=MeSH" title="MedGen record for Undifferentiated Juvenile Idiopathic Arthritis">Undifferentiated Juvenile Idiopathic Arthritis</a></span></li><li><span class="TLline"><a href="/medgen/1842681" ref="tree=MeSH" title="MedGen record for Unspecified juvenile idiopathic arthritis">Unspecified juvenile idiopathic arthritis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45244" ref="tree=MeSH" title="MedGen record for Osteoarthritis">Osteoarthritis</a></span><ul><li><span class="TLline"><a href="/medgen/14530" ref="tree=MeSH" title="MedGen record for Osteoarthritis, hip">Osteoarthritis, hip</a></span></li><li><span class="TLline"><a href="/medgen/98371" ref="tree=MeSH" title="MedGen record for Osteoarthritis, knee">Osteoarthritis, knee</a></span></li><li><span class="TLline"><a href="/medgen/389941" ref="tree=MeSH" title="MedGen record for Osteoarthritis, spine">Osteoarthritis, spine</a></span></li><li><span class="TLline"><a href="/medgen/371977" ref="tree=MeSH" title="MedGen record for Premature osteoarthritis">Premature osteoarthritis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/48448" ref="tree=MeSH" title="MedGen record for Rheumatic Fever">Rheumatic Fever</a></span><ul><li><span class="TLline"><a href="/medgen/20565" ref="tree=MeSH" title="MedGen record for Rheumatic heart disease">Rheumatic heart disease</a></span></li><li><span class="TLline"><a href="/medgen/19780" ref="tree=MeSH" title="MedGen record for Rheumatic nodule">Rheumatic nodule</a></span></li><li><span class="TLline"><a href="/medgen/53087" ref="tree=MeSH" title="MedGen record for Wissler syndrome">Wissler syndrome</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/592754" ref="tree=MeSH" title="MedGen record for Undifferentiated connective tissue syndrome">Undifferentiated connective tissue syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82705" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome">Weill-Marchesani syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/416383" ref="tree=MeSH" title="MedGen record for Weill-Marchesani 4 syndrome, recessive">Weill-Marchesani 4 syndrome, recessive</a></span></li><li><span class="TLline"><a href="/medgen/1637058" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome 1">Weill-Marchesani syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/766699" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome 3">Weill-Marchesani syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/358388" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome 2, dominant">Weill-Marchesani syndrome 2, dominant</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
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<div class="nl"><a target="_blank" href="/pubmed/36624431">Expert consensus on the management of systemic sclerosis-associated interstitial lung disease.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Rahaghi FF,
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||
Hsu VM,
|
||
Kaner RJ,
|
||
Mayes MD,
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||
Rosas IO,
|
||
Saggar R,
|
||
Steen VD,
|
||
Strek ME,
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||
Bernstein EJ,
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||
Bhatt N,
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||
Castelino FV,
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||
Chung L,
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||
Domsic RT,
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||
Flaherty KR,
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Gupta N,
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Kahaleh B,
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||
Martinez FJ,
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Morrow LE,
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Moua T,
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||
Patel N,
|
||
Shlobin OA,
|
||
Southern BD,
|
||
Volkmann ER,
|
||
Khanna D</span><br />
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||
<span class="medgenPMjournal">Respir Res</span>
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||
2023 Jan 9;24(1):6.
|
||
doi: 10.1186/s12931-022-02292-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36624431" target="_blank">36624431</a><a href="/pmc/articles/PMC9830797" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36292765">Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Charoenngam N,
|
||
Nasr A,
|
||
Shirvani A,
|
||
Holick MF</span><br />
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||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2022 Oct 17;13(10)
|
||
doi: 10.3390/genes13101880.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36292765" target="_blank">36292765</a><a href="/pmc/articles/PMC9601711" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24577266">Loeys-Dietz syndrome: a primer for diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">MacCarrick G,
|
||
Black JH 3rd,
|
||
Bowdin S,
|
||
El-Hamamsy I,
|
||
Frischmeyer-Guerrerio PA,
|
||
Guerrerio AL,
|
||
Sponseller PD,
|
||
Loeys B,
|
||
Dietz HC 3rd</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2014 Aug;16(8):576-87.
|
||
Epub 2014 Feb 27
|
||
doi: 10.1038/gim.2014.11.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24577266" target="_blank">24577266</a><a href="/pmc/articles/PMC4131122" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22connective%20tissue%20disorder%22%5Btiab%3A~0%5D)%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 (97)</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/36292765">Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Charoenngam N,
|
||
Nasr A,
|
||
Shirvani A,
|
||
Holick MF</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2022 Oct 17;13(10)
|
||
doi: 10.3390/genes13101880.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36292765" target="_blank">36292765</a><a href="/pmc/articles/PMC9601711" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31985522">Biomarkers of Aortopathy in Marfan Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iskandar Z,
|
||
Mordi I,
|
||
Lang CC,
|
||
Huang JTJ,
|
||
Choy AM</span><br />
|
||
<span class="medgenPMjournal">Cardiol Rev</span>
|
||
2020 Mar/Apr;28(2):92-97.
|
||
doi: 10.1097/CRD.0000000000000289.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31985522" target="_blank">31985522</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27097818">Connective Tissue Disorder-Associated Vasculitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharma A,
|
||
Dhooria A,
|
||
Aggarwal A,
|
||
Rathi M,
|
||
Chandran V</span><br />
|
||
<span class="medgenPMjournal">Curr Rheumatol Rep</span>
|
||
2016 Jun;18(6):31.
|
||
doi: 10.1007/s11926-016-0584-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27097818" target="_blank">27097818</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26350976">The risk for type B aortic dissection in Marfan syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Setacci C,
|
||
Galzerano G,
|
||
Setacci F,
|
||
Mazzitelli G,
|
||
de Donato G,
|
||
Ricci C</span><br />
|
||
<span class="medgenPMjournal">J Cardiovasc Surg (Torino)</span>
|
||
2015 Dec;56(6):899-904.
|
||
Epub 2015 Sep 8
|
||
<span class="bold">PMID: </span><a href="/pubmed/26350976" target="_blank">26350976</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20847697">Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malfait F,
|
||
Wenstrup RJ,
|
||
De Paepe A</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2010 Oct;12(10):597-605.
|
||
doi: 10.1097/GIM.0b013e3181eed412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20847697" target="_blank">20847697</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Connective%20tissue%20disorder%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 (690)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34807424">Meester-Loeys Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meester JAN,
|
||
De Kinderen P,
|
||
Verstraeten A,
|
||
Loeys B</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2021;1348:265-272.
|
||
doi: 10.1007/978-3-030-80614-9_12.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34807424" target="_blank">34807424</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34807420">Pathophysiology and Pathogenesis of Marfan Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zeigler SM,
|
||
Sloan B,
|
||
Jones JA</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2021;1348:185-206.
|
||
doi: 10.1007/978-3-030-80614-9_8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34807420" target="_blank">34807420</a><a href="/pmc/articles/PMC8915437" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28145611">Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tinkle B,
|
||
Castori M,
|
||
Berglund B,
|
||
Cohen H,
|
||
Grahame R,
|
||
Kazkaz H,
|
||
Levy H</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2017 Mar;175(1):48-69.
|
||
Epub 2017 Feb 1
|
||
doi: 10.1002/ajmg.c.31538.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28145611" target="_blank">28145611</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24577266">Loeys-Dietz syndrome: a primer for diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">MacCarrick G,
|
||
Black JH 3rd,
|
||
Bowdin S,
|
||
El-Hamamsy I,
|
||
Frischmeyer-Guerrerio PA,
|
||
Guerrerio AL,
|
||
Sponseller PD,
|
||
Loeys B,
|
||
Dietz HC 3rd</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2014 Aug;16(8):576-87.
|
||
Epub 2014 Feb 27
|
||
doi: 10.1038/gim.2014.11.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24577266" target="_blank">24577266</a><a href="/pmc/articles/PMC4131122" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21308160">Marfan's syndrome: an overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yuan SM,
|
||
Jing H</span><br />
|
||
<span class="medgenPMjournal">Sao Paulo Med J</span>
|
||
2010 Dec;128(6):360-6.
|
||
doi: 10.1590/s1516-31802010000600009.
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<span class="bold">PMID: </span><a href="/pubmed/21308160" target="_blank">21308160</a><a href="/pmc/articles/PMC10948077" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Connective%20tissue%20disorder%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 (923)</a></div><h3 class="subhead">Therapy</h3>
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Saggar R,
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<div class="nl"><a target="_blank" href="/pubmed/25281853">Angiotensin receptor blockers: a panacea for Marfan syndrome and related disorders?</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/28838364" target="_blank">28838364</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36624431">Expert consensus on the management of systemic sclerosis-associated interstitial lung disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rahaghi FF,
|
||
Hsu VM,
|
||
Kaner RJ,
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||
Mayes MD,
|
||
Rosas IO,
|
||
Saggar R,
|
||
Steen VD,
|
||
Strek ME,
|
||
Bernstein EJ,
|
||
Bhatt N,
|
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Castelino FV,
|
||
Chung L,
|
||
Domsic RT,
|
||
Flaherty KR,
|
||
Gupta N,
|
||
Kahaleh B,
|
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Martinez FJ,
|
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Morrow LE,
|
||
Moua T,
|
||
Patel N,
|
||
Shlobin OA,
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Southern BD,
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Volkmann ER,
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Khanna D</span><br />
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<span class="medgenPMjournal">Respir Res</span>
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2023 Jan 9;24(1):6.
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doi: 10.1186/s12931-022-02292-3.
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<span class="bold">PMID: </span><a href="/pubmed/36624431" target="_blank">36624431</a><a href="/pmc/articles/PMC9830797" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35662564">Clinical features and complications of Loeys-Dietz syndrome: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gouda P,
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Kay R,
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Habib M,
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Aziz A,
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Aziza E,
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Welsh R</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/35662564" target="_blank">35662564</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34807424">Meester-Loeys Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Meester JAN,
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De Kinderen P,
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<div class="nl"><a target="_blank" href="/pubmed/28838364">Spontaneous Coronary Artery Dissection: Clinical Outcomes and Risk of Recurrence.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Saw J,
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Humphries K,
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Aymong E,
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Sedlak T,
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Prakash R,
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Starovoytov A,
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Mancini GBJ</span><br />
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<span class="medgenPMjournal">J Am Coll Cardiol</span>
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<span class="bold">PMID: </span><a href="/pubmed/28838364" target="_blank">28838364</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/20847697">Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Malfait F,
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Wenstrup RJ,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Connective%20tissue%20disorder%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 (427)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38926786">Vascular Ehlers-Danlos syndrome and pregnancy: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Haem T,
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Benson B,
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Dernoncourt A,
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Gondry J,
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Schmidt J,
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Foulon A</span><br />
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<span class="medgenPMjournal">BJOG</span>
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2024 Nov;131(12):1620-1629.
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||
Epub 2024 Jun 26
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||
doi: 10.1111/1471-0528.17893.
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||
<span class="bold">PMID: </span><a href="/pubmed/38926786" target="_blank">38926786</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36814291">Systematic review of health related-quality of life in adults with osteogenesis imperfecta.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Mc Donald D,
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Mc Donnell T,
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Martin-Grace J,
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Mc Manus G,
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Crowley RK</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/36814291" target="_blank">36814291</a><a href="/pmc/articles/PMC9945612" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36804968">Bone Fragility in Hereditary Connective Tissue Disorders: A Systematic Review and Meta-Analysis.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Charoenngam N,
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Rittiphairoj T,
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Ponvilawan B,
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Jaroenlapnopparat A,
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Waitayangkoon P,
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Suppakitjanusant P,
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Prasitsumrit V,
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Pongchaiyakul C,
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Holick MF</span><br />
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Epub 2023 Feb 17
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||
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||
<span class="bold">PMID: </span><a href="/pubmed/36804968" target="_blank">36804968</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35662564">Clinical features and complications of Loeys-Dietz syndrome: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gouda P,
|
||
Kay R,
|
||
Habib M,
|
||
Aziz A,
|
||
Aziza E,
|
||
Welsh R</span><br />
|
||
<span class="medgenPMjournal">Int J Cardiol</span>
|
||
2022 Sep 1;362:158-167.
|
||
Epub 2022 Jun 1
|
||
doi: 10.1016/j.ijcard.2022.05.065.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35662564" target="_blank">35662564</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34779796">Orthopaedic Management of Loeys-Dietz Syndrome: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lynch CP,
|
||
Patel M,
|
||
Seeley AH,
|
||
Seeley MA</span><br />
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||
<span class="medgenPMjournal">J Am Acad Orthop Surg Glob Res Rev</span>
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2021 Nov 15;5(11)
|
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doi: 10.5435/JAAOSGlobal-D-21-00087.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34779796" target="_blank">34779796</a><a href="/pmc/articles/PMC8594655" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Connective%20tissue%20disorder%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (22)</a></div></div>
|
||
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22connective%20tissue%20disorder%22%5Btiab%3A~0%5D)%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(%22Connective%20tissue%20disorder%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>
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