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<div class="res_logo"><h1 class="res_name"><a href="/medgen/" title="MedGen home">MedGen</a></h1><h2 class="res_tagline"></h2></div>
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<div class="search"><form method="get" action="/medgen/"><div class="search_form"><label for="database" class="offscreen_noflow">Search database</label><select id="database"><optgroup label="Recent"><option value="medgen" selected="selected" data-ac_dict="medgen_disease_name">MedGen</option><option value="dbvar">dbVar</option><option value="nuccore">Nucleotide</option><option value="biosample" class="last">BioSample</option></optgroup><optgroup label="All"><option value="gquery">All Databases</option><option value="assembly">Assembly</option><option value="biocollections">Biocollections</option><option value="bioproject">BioProject</option><option value="biosample">BioSample</option><option value="books">Books</option><option value="clinvar">ClinVar</option><option value="cdd">Conserved Domains</option><option value="gap">dbGaP</option><option value="dbvar">dbVar</option><option value="gene">Gene</option><option value="genome">Genome</option><option value="gds">GEO DataSets</option><option value="geoprofiles">GEO Profiles</option><option value="gtr">GTR</option><option value="ipg">Identical Protein Groups</option><option value="medgen" data-ac_dict="medgen_disease_name">MedGen</option><option value="mesh">MeSH</option><option value="nlmcatalog">NLM Catalog</option><option value="nuccore">Nucleotide</option><option value="omim">OMIM</option><option value="pmc">PMC</option><option value="protein">Protein</option><option value="proteinclusters">Protein Clusters</option><option value="protfam">Protein Family Models</option><option value="pcassay">PubChem BioAssay</option><option value="pccompound">PubChem Compound</option><option value="pcsubstance">PubChem Substance</option><option value="pubmed">PubMed</option><option value="snp">SNP</option><option value="sra">SRA</option><option value="structure">Structure</option><option value="taxonomy">Taxonomy</option><option value="toolkit">ToolKit</option><option value="toolkitall">ToolKitAll</option><option value="toolkitbookgh">ToolKitBookgh</option></optgroup></select><div class="nowrap"><label for="term" class="offscreen_noflow" accesskey="/">Search term</label><div class="nowrap"><input type="text" name="term" id="term" title="Search MedGen. Use up and down arrows to choose an item from the autocomplete." value="" class="jig-ncbiclearbutton jig-ncbiautocomplete" data-jigconfig="dictionary:'medgen_disease_name',disableUrl:'NcbiSearchBarAutoComplCtrl'" autocomplete="off" data-sbconfig="ds:'no',pjs:'no',afs:'yes'" /></div><button id="search" type="submit" class="button_search nowrap" cmd="go">Search</button></div></div></form><ul class=" inline_list searchlinks"><li>
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<a href="/medgen/limits/">Limits</a>
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</li><li>
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<a href="/medgen/advanced/">Advanced</a>
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</li><li class="help"><a href="/medgen/docs/help/">Help</a></li></ul></div>
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<div class="nav_and_browser">
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</div>
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<!-- was itemctrl -->
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<div class="container">
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<div id="maincontent" class="content col twelve_col last">
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<div class="col1">
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<h1 id="properties-medgen-ncbi">Properties - MedGen - NCBI</h1>
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<h2 id="definitions-of-properties-of-med">Definitions of properties of MedGen records</h2>
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<p>MedGen, like many other Entrez databases, uses the property field to capture concepts characteristic of multiple records. Usually the term is not also included in the record itself.</p>
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<p><table border="1" cellpadding="1" cellspacing="1">
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<thead>
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<tr>
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<th scope="col">
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Term used</th>
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<th scope="col">
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Description</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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clinvar</td>
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<td>
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There are related data in ClinVar</td>
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</tr>
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<tr>
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<td>
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disease</td>
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<td>
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The MedGen record represents a disorder or condition.</td>
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</tr>
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<tr>
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<td>
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disorder genetic focus</td>
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<td>
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The MedGen record is considered of particular interest to medical geneticists. This property is used as one of the default limits in the query interface, and is based on having terms associated with records in the NIH Genetic Testing Registry (GTR).</td>
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</tr>
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<tr>
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<td>
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familial predisposition</td>
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<td>
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One of the terms for risk factors.</td>
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</tr>
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<tr>
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<td>
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finding</td>
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<td>
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The MedGen record is classified by UMLS as a finding (clinical feature) or is integrated from HPO.</td>
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</tr>
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<tr>
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<td>
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gtr</td>
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<td>
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The concept is also represented in GTR</td>
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</tr>
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<tr>
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<td>
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has clinical features</td>
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<td>
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Records that also report clinical features.</td>
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</tr>
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<tr>
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<td>
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has definition</td>
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<td>
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Records that include a definition from at least one source.</td>
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</tr>
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<tr>
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<td>
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has guideline</td>
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<td>
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Records with at least one publication that is characterized as a practice guideline, position statement, or recommendation.</td>
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</tr>
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<tr>
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<td>
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in omim</td>
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<td>
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Records that have a corresponding record in OMIM.</td>
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</tr>
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<tr>
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<td>
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is clinical feature</td>
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<td>
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The MedGen record is a clinical feature.</td>
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||
</tr>
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<tr>
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<td>
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physiology</td>
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<td>
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The MedGen record is classified as having a semantic type of T043 (physiology).</td>
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</tr>
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<tr>
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<td>
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semantic id (mutliple completions)/semantic type</td>
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<td>
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<p>
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Semantic Types are a set of broad subject areas that provide a consistent categorization of concepts represented in the UMLS Metathesaurus and help to summarize the content of a source. Each Metathesaurus concept is assigned at least one semantic type, many have more than one.</p>
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<p>
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The MedGen record is categorized by UMLS as being of this coded Semantic type. The semantic type values in scope for MedGen are:</p>
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<table border="0" cellpadding="1" cellspacing="1">
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<tbody>
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<tr>
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<td>
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<strong>Type</strong></td>
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<td>
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<strong>Description</strong></td>
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</tr>
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<tr>
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<td>
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T019</td>
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<td>
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congenital abnormality</td>
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</tr>
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<tr>
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<td>
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T033</td>
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<td>
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findings</td>
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</tr>
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<tr>
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<td>
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T043</td>
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<td>
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physiology</td>
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</tr>
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<tr>
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<td>
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T044</td>
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<td>
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molecular function</td>
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</tr>
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<tr>
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<td>
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T046</td>
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<td>
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pathologic function</td>
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</tr>
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<tr>
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<td>
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T047</td>
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<td>
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disease or syndrome</td>
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</tr>
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<tr>
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<td>
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T048</td>
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<td>
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mental or behavioral dysfunction</td>
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</tr>
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<tr>
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<td>
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T049</td>
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<td>
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cell or molecular dysfunction</td>
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</tr>
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<tr>
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<td>
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T121</td>
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<td>
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pharmacologic substance</td>
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</tr>
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<tr>
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<td>
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T184</td>
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<td>
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sign or symptom</td>
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</tr>
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<tr>
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<td>
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T190</td>
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<td>
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anatomical abnormality</td>
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</tr>
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<tr>
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<td>
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T191</td>
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<td>
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neoplastic process</td>
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</tr>
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<tr>
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<td>
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TN00</td>
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<td>
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unknown</td>
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</tr>
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</tbody>
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</table>
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</td>
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</tr>
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<tr>
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<td>
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status m</td>
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<td>
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The record is now secondary to another (merged).</td>
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</tr>
|
||
<tr>
|
||
<td>
|
||
status n</td>
|
||
<td>
|
||
Novel record.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
status u</td>
|
||
<td>
|
||
Updated record.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
substance</td>
|
||
<td>
|
||
The MedGen record is a pharmacologic substance.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type ab</td>
|
||
<td>
|
||
The MedGen record is an abbreviation.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type acr</td>
|
||
<td>
|
||
The MedGen record is an acronym.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type ad</td>
|
||
<td>
|
||
The MedGen record is an adjective.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type biocpt</td>
|
||
<td>
|
||
The MedGen record is from BioCarta online maps of molecular pathways.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type bn</td>
|
||
<td>
|
||
Fully-specified drug brand name that cannot be prescribed.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type bridgpt</td>
|
||
<td>
|
||
Preferred term from Biomedical Research Integrated Domain Group Model.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type ccn</td>
|
||
<td>
|
||
Chemical Code name from NCI</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type cdiscpt</td>
|
||
<td>
|
||
Preferred term from Clinical Data Interchange Standards Consortium.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type cdiscsy</td>
|
||
<td>
|
||
Synonym from Clinical Data Interchange Standards Consortium.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type ce</td>
|
||
<td>
|
||
Entry term for a Supplementary Concept in MeSH.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type crchpt</td>
|
||
<td>
|
||
Preferred term from Cancer Research Center of Hawaii.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type crchsy</td>
|
||
<td>
|
||
Synonym from the Cancer Research Center of Hawaii.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type csn</td>
|
||
<td>
|
||
Chemical Structure Name from NCI.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type ctcaept</td>
|
||
<td>
|
||
Preferred term from Common Terminology Criteria for Adverse Events.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type dcppt</span></td>
|
||
<td>
|
||
Preferred term from <span>NCI Division of Cancer Prevention Program.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type dcpsy</span></td>
|
||
<td>
|
||
Synonym from <span>NCI Division of Cancer Prevention Program.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type dev</span></td>
|
||
<td>
|
||
<span>Descriptor entry version in MeSH.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type dicompt</span></td>
|
||
<td>
|
||
Preferred term from <span>Digital Imaging Communications in Medicine.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type dn</span></td>
|
||
<td>
|
||
<span>Display Name from NCI.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type dtppt</span></td>
|
||
<td>
|
||
Preferred term from <span>NCI Developmental Therapeutics Program.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type dtpsy</span></td>
|
||
<td>
|
||
Synonym from <span>NCI Developmental Therapeutics Program.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type en</span></td>
|
||
<td>
|
||
<span>Non-print entry term in MeSH. </span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type ep</span></td>
|
||
<td>
|
||
<span>Print entry term in MeSH.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type et</span></td>
|
||
<td>
|
||
<span>Entry term (source </span>synonym terms for Main Headings in MeSH).</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type etav</span></td>
|
||
<td>
|
||
<span>Entry Term Allelic Variant in OMIM.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type fbd</span></td>
|
||
<td>
|
||
<span>Foreign brand name in NCI.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type fdaab</span></td>
|
||
<td>
|
||
<span>Abbreviation from U.S. Food and Drug Administration (FDA).</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type fdapt</span></td>
|
||
<td>
|
||
Preferred term from <span>U.S. Food and Drug Administration </span><span>(FDA).</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type fdasy</span></td>
|
||
<td>
|
||
Synonym from <span>U.S. Food and Drug Administration </span><span>(FDA).</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type hd</span></td>
|
||
<td>
|
||
<span>Hierarchical descriptor in NCI.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type ht</span></td>
|
||
<td>
|
||
<span>Hierarchical term in MeSH.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type keggpt</span></td>
|
||
<td>
|
||
Preferred term from <span>Kyoto Encyclopedia of Genes and Genomes (KEGG), KEGG Pathway Database, adapted for NCI use.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type keggsy</span></td>
|
||
<td>
|
||
Synonym from <span>Kyoto Encyclopedia of Genes and Genomes (KEGG), KEGG Pathway Database, adapted for NCI use.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type mh</span></td>
|
||
<td>
|
||
<span>Main heading in MeSH</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type n1</span></td>
|
||
<td>
|
||
<span>Chemical Abstracts Service Type 1 name of a chemical in MeSH.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type nci glossop</span></td>
|
||
<td>
|
||
Obsolete preferred term from <span>NCI Dictionary of Cancer Terms.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type nci glosspt</span></td>
|
||
<td>
|
||
Preferred term from <span>NCI Dictionary of Cancer Terms.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type nci glossy</span></td>
|
||
<td>
|
||
Synonym from <span>NCI Dictionary of Cancer Terms.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type nci hl7pt</span></td>
|
||
<td>
|
||
Preferred term from <span>NCI Health Level 7 (HL7).</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type ncpdppt</td>
|
||
<td>
|
||
Preferred term from <span>National Council for Prescription Drug Programs.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type nichdpt</td>
|
||
<td>
|
||
Preferred term from <span>National Institute of Child Health and Human Development.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type nichdsy </td>
|
||
<td>
|
||
Synonym from <span>National Institute of Child Health and Human Development.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type nm</td>
|
||
<td>
|
||
Name of supplementary Concept in MeSH.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type op</td>
|
||
<td>
|
||
Obsolete preferred name.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type pce</td>
|
||
<td>
|
||
<span>Preferred entry term for Supplementary Concept in MeSH.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type pen</span></td>
|
||
<td>
|
||
Preferred non-print entry term in MeSH.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<span>term type pep</span></td>
|
||
<td>
|
||
Preferred entry term in MeSH.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type pidpt</td>
|
||
<td>
|
||
Preferred term from <span>National Cancer Institute Nature Pathway Interaction Database.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type pm</td>
|
||
<td>
|
||
<span>Machine permutation (machine generated synonyms that are permutated through </span>rearranging or reindexing a set of elements in various and different orders. None of the elements are lost, added, or changed in the rearrangement process).</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type pt</td>
|
||
<td>
|
||
<span>Designated preferred name.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type ptav</td>
|
||
<td>
|
||
<span>Preferred name from an Allelic Variant in OMIM.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type ptcs</td>
|
||
<td>
|
||
<span>Preferred Clinical Synopsis in OMIM.</span></td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type pxq</td>
|
||
<td>
|
||
Preferred qualifier term in MeSH.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type qab</td>
|
||
<td>
|
||
Qualifier abbreviation in MeSH.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type qev</td>
|
||
<td>
|
||
Qualifier entry version in MeSH.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type renidn</td>
|
||
<td>
|
||
Registry Nomenclature Information Display Name in NCI.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type sy</td>
|
||
<td>
|
||
Designated synonym.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type syn</td>
|
||
<td>
|
||
Designated alias in OMIM.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type tq</td>
|
||
<td>
|
||
Topical qualifier in MeSH (The meaning of these terms is specific to MeSH indexing and may not be appropriate for general use, but they are not currently being excluded because the Medical Text Indexer (MTI) includes them in its recommendations).</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type ucumpt</td>
|
||
<td>
|
||
Preferred term from Unified Code for Units of Measure.</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
term type ucumsy</td>
|
||
<td>
|
||
Synonym from Unified Code for Units of Measure.</td>
|
||
</tr>
|
||
</tbody>
|
||
</table>
|
||
</p>
|
||
</div>
|
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