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<!DOCTYPE html PUBLIC "-//W3C//DTD XHTML 1.0 Strict//EN" "http://www.w3.org/TR/xhtml1/DTD/xhtml1-strict.dtd"> <html> <head> <title>None</title> <meta http-equiv="content-type" content="text/html; charset=utf-8" /> <!--[if IE]> <link rel="stylesheet" type="text/css" href="/media/css/content.ie.css" media="screen,projection" /> <![endif]--> <!--[if !IE]><!--> <link rel="stylesheet" type="text/css" href="/media/css/content.css" media="screen,projection" /> <!--<![endif]--> <link rel="stylesheet" type="text/css" href="/media/css/bx_styles.css" media="screen,projection" /> <script src='/media/javascript/jquery.js' type='text/javascript'></script> <script src='/media/javascript/jquery.tools.min.js' type='text/javascript'></script> <script src='/media/javascript/jquery.bxSlider.min.js' type='text/javascript'></script> <script src='/media/javascript/content.js?ver=1' type='text/javascript'></script> <!-- Google Analytics --> <script async src="https://www.googletagmanager.com/gtag/js?id=G-HRS0GYY02M"></script> <script> window.dataLayer = window.dataLayer || []; function gtag() { dataLayer.push(arguments); } gtag('js', new Date()); gtag('config', 'G-HRS0GYY02M'); </script> </head> <body> <body class="term-body"> <div id="meta-container"> <!-- <a href="" class="blue-button" id=""> --> <a href="#" class="button" id="arbor_button"> <span id="11481_phenylketonuria" class="visualize">Visualize</span> </a> <a target="_blank" href="/outreach/contact-us?termId=DOID:9281" class="button" id="submit_comment"> <span id="submit_comment_DOID:9281">Submit Comment</span> </a> <table id ="metadata"> <colgroup> <col class="key-col"> </colgroup> <thead id="meta-header"> <tr> <th id="tbl-header">Metadata</th> </tr> </thead> <tbody> <tr> <td class="field-label">ID</td> <td class="meta-val">DOID:9281</td> </tr> <tr> <td class="field-label">Name</td> <td class="meta-val">phenylketonuria</td> </tr> <tr> <td class="field-label">Definition</td> <td class="meta-val">An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. <br /> <a target="_blank" href="http://en.wikipedia.org/wiki/Phenylketonuria">http://en.wikipedia.org/wiki/Phenylketonuria</a>, <a target="_blank" href="https://www.genome.gov/Genetic-Disorders/Phenylketonuria">https://www.genome.gov/Genetic-Disorders/Phenylketonuria</a></td> </tr> <tr> <td class="field-label"> Xrefs</td> <td> <p class="attr-row"><a target="_blank" href="https://rarediseases.info.nih.gov/diseases/7383/index">GARD:7383</a></p> <p class="attr-row"><a target="_blank" href="http://icd9cm.chrisendres.com/index.php?action=search&srchtext=270.1">ICD9CM:270.1</a></p> <p class="attr-row"><a target="_blank" href="https://meshb.nlm.nih.gov/record/ui?ui=D010661">MESH:D010661</a></p> <p class="attr-row"><a target="_blank" href="https://meshb.nlm.nih.gov/record/ui?ui=D017042">MESH:D017042</a></p> <p class="attr-row"><a target="_blank" href="https://omim.org/MIM:261600">MIM:261600</a></p> <p class="attr-row"><a target="_blank" href="https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C81315">NCI:C81315</a></p> <p class="attr-row"><a target="_blank" href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716">ORDO:716</a></p> <p class="attr-row">SNOMEDCT_US_2023_03_01:154735006</p> <p class="attr-row">SNOMEDCT_US_2023_03_01:297225000</p> <p class="attr-row"><a target="_blank" href="https://uts.nlm.nih.gov/uts/umls/concept/C0031485">UMLS_CUI:C0031485</a></p> <p class="attr-row"><a target="_blank" href="https://uts.nlm.nih.gov/uts/umls/concept/C0085547">UMLS_CUI:C0085547</a></p> </td> <tr> <tr> <td class="field-label"> Alternateids</td> <td> <p class="attr-row">DOID:14455</p> </td> <tr> <tr> <td class="field-label"> Subsets</td> <td> <p class="attr-row">DO_rare_slim</p> <p class="attr-row">NCIthesaurus</p> </td> <tr> <tr> <td class="field-label"> Synonyms</td> <td> <p class="attr-row">Folling's disease [EXACT]</p> <p class="attr-row">maternal phenylketonuria [EXACT]</p> <p class="attr-row">phenylalaninemia [EXACT]</p> <p class="attr-row">PKU [EXACT]</p> </td> <tr> <tr> <td class="field-label">Parent Relationships</td> <td> <p class='attr-row'>is_a <a href="/term/DOID:9252/obo" class="rel-link" id="DOID:9252">amino acid metabolic disorder</a></p> </td> </tr> <!-- Tracker link --> </tbody> </table> <div id="tracker_div"> <span id="tracker"><a target="_blank" href="https://github.com/DiseaseOntology/HumanDiseaseOntology/issues">Add an item to the term tracker<a></span> </div> </div> <p></p> <p></p> </body> </body> </html>