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<meta name="robots" content="INDEX,FOLLOW,NOARCHIVE" /><meta name="author" content="National Center for Biotechnology Information (US)" /><meta name="citation_title" content="Genes and Disease" /><meta name="citation_publisher" content="National Center for Biotechnology Information (US)" /><meta name="citation_date" content="1998" /><meta name="citation_author" content="National Center for Biotechnology Information (US)" /><meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK22183/" /><link rel="schema.DC" href="http://purl.org/DC/elements/1.0/" /><meta name="DC.Title" content="Genes and Disease" /><meta name="DC.Type" content="Text" /><meta name="DC.Publisher" content="National Center for Biotechnology Information (US)" /><meta name="DC.Contributor" content="National Center for Biotechnology Information (US)" /><meta name="DC.Date" content="1998" /><meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK22183/" /><meta name="description" content="Genes and Disease is a collection of articles that discuss genes and the diseases that they cause. These genetic disorders are organized by the parts of the body that they affect. As some diseases affect various body systems, they appear in more than one chapter." /><meta name="og:title" content="Genes and Disease" /><meta name="og:type" content="book" /><meta name="og:description" content="Genes and Disease is a collection of articles that discuss genes and the diseases that they cause. These genetic disorders are organized by the parts of the body that they affect. As some diseases affect various body systems, they appear in more than one chapter." /><meta name="og:url" content="https://www.ncbi.nlm.nih.gov/books/NBK22183/" /><meta name="og:site_name" content="NCBI Bookshelf" /><meta name="og:image" content="https://www.ncbi.nlm.nih.gov/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gnd-lrg.png" /><meta name="twitter:card" content="summary" /><meta name="twitter:site" content="@ncbibooks" /><meta name="bk-non-canon-loc" content="/books/n/gnd/toc/" /><link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK22183/" /><link rel="stylesheet" href="/corehtml/pmc/css/figpopup.css" type="text/css" media="screen" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books.min.css" type="text/css" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books_print.min.css" type="text/css" media="print" /><style type="text/css">p a.figpopup{display:inline !important} .bk_tt {font-family: monospace} .first-line-outdent .bk_ref {display: inline} </style><script type="text/javascript" src="/corehtml/pmc/js/jquery.hoverIntent.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/common.min.js?_=3.18"> </script><script type="text/javascript" src="/corehtml/pmc/js/large-obj-scrollbars.min.js"> </script><script type="text/javascript">window.name="mainwindow";</script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/books.min.js"> </script><meta name="book-collection" content="NONE" />
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<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p></div><div class="pagination bk_noprnt"><span class="inactive page_link prev">< Prev</span><a class="active page_link next" href="/books/n/gnd/gnd_book_info/" title="Next page in this title">Next ></a></div></div></div>
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<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/Book"><div class="meta-content fm-sec"><div class="iconblock whole_rhythm clearfix no_top_margin"><a href="https://www.ncbi.nlm.nih.gov/" title="National Center for Biotechnology Information (US)" class="img_link icnblk_img" ref="pagearea=logo&targetsite=external&targetcat=link&targettype=publisher"><img class="source-thumb" src="/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gnd-lrg.png" alt="Cover of Genes and Disease" /></a><div class="icnblk_cntnt"><h1 id="_NBK22183_"><span itemprop="name">Genes and Disease</span></h1><p class="contrib-group"><span itemprop="author">National Center for Biotechnology Information (US)</span>.</p><div class="half_rhythm">Bethesda (MD): <a href="https://www.ncbi.nlm.nih.gov/" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=publisher"><span itemprop="publisher">National Center for Biotechnology Information (US)</span></a>; <span itemprop="datePublished">1998</span>-.</div><div class="half_rhythm"><ul class="inline_list"><li><span class="label"><a data-jig="ncbidialog" href="#_ncbi_dlg_cpyrght_NBK22183" data-jigconfig="modal:true">Copyright and
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Permissions</a></span></li></ul></div><div id="_ncbi_dlg_cpyrght_NBK22183" style="display:none" title="Copyright and Permissions"><div>This publication is in the public domain. For more information, see the <a href="/books/about/copyright/">Bookshelf Copyright Notice</a>.</div></div><div class="bk_noprnt"><form method="get" action="/books/n/gnd/" id="bk_srch"><div class="bk_search"><label for="bk_term" class="offscreen_noflow">Search term</label><input type="text" title="Search this book" id="bk_term" name="term" value="" data-jig="ncbiclearbutton" /> <input type="submit" class="jig-ncbibutton" value="Search this book" submit="false" style="padding: 0.1em 0.4em;" /></div></form></div></div></div></div><div class="body-content whole_rhythm" itemprop="text"><div itemprop="description"><p><i>Genes and Disease</i> is a collection of articles that discuss genes and the diseases that they cause. These genetic disorders are organized by the parts of the body that they affect. As some diseases affect various body systems, they appear in more than one chapter.</p><p>With each genetic disorder, the underlying mutation(s) is discussed, along with clinical features and links to key websites.</p></div><div><h2>Contents</h2><ul id="toc_tllNBK22183_toc_gnd_book_info" class="simple-list toc"><li class="half_rhythm" id="toc_itm_NBK22183_toc_gnd_book_info"><a class="toc-item" href="/books/n/gnd/gnd_book_info/">Introduction to Genes and Disease</a></li><li class="half_rhythm" id="toc_itm_NBK22183_toc_A1"><a class="toc-item" href="/books/n/gnd/A1/">Blood and Lymph Diseases</a></li><li class="half_rhythm" id="toc_itm_NBK22183_toc_A10"><a class="toc-item" href="/books/n/gnd/A10/">Cancers</a></li><li class="half_rhythm" id="toc_itm_NBK22183_toc_A25"><a class="toc-item" href="/books/n/gnd/A25/">The Digestive System</a></li><li class="half_rhythm" id="toc_itm_NBK22183_toc_A32"><a class="toc-item" href="/books/n/gnd/A32/">Ear, Nose, and Throat</a></li><li class="half_rhythm" id="toc_itm_NBK22183_toc_A35"><a class="toc-item" href="/books/n/gnd/A35/">Diseases of the Eye</a></li><li class="half_rhythm" id="toc_itm_NBK22183_toc_A39"><a class="toc-item" href="/books/n/gnd/A39/">Female-Specific Diseases</a></li><li class="half_rhythm" id="toc_itm_NBK22183_toc_A41"><a class="toc-item" href="/books/n/gnd/A41/">Glands and Hormones</a></li><li class="half_rhythm" id="toc_itm_NBK22183_toc_A46"><a class="toc-item" href="/books/n/gnd/A46/">The Heart and Blood Vessels</a></li><li class="half_rhythm" id="toc_itm_NBK22183_toc_A51"><a class="toc-item" href="/books/n/gnd/A51/">Diseases of the Immune System</a></li><li class="half_rhythm" id="toc_itm_NBK22183_toc_A56"><a class="toc-item" href="/books/n/gnd/A56/">Male-Specific Diseases</a></li><li class="half_rhythm" id="toc_itm_NBK22183_toc_A59"><a class="toc-item" href="/books/n/gnd/A59/">Muscle and Bone</a></li><li class="half_rhythm" id="toc_itm_NBK22183_toc_A65"><a class="toc-item" href="/books/n/gnd/A65/">Neonatal Diseases</a></li><li class="half_rhythm" id="toc_itm_NBK22183_toc_A75"><a class="toc-item" href="/books/n/gnd/A75/">The Nervous System</a></li><li class="half_rhythm" id="toc_itm_NBK22183_toc_A86"><a class="toc-item" href="/books/n/gnd/A86/">Nutritional and Metabolic Diseases</a></li><li class="half_rhythm" id="toc_itm_NBK22183_toc_A88"><a class="toc-item" href="/books/n/gnd/A88/">Respiratory Diseases</a></li><li class="half_rhythm" id="toc_itm_NBK22183_toc_A89"><a class="toc-item" href="/books/n/gnd/A89/">Skin and Connective Tissue</a></li><li class="half_rhythm" id="toc_itm_NBK22183_toc_A272"><a class="toc-item" href="/books/n/gnd/A272/">Chromosome Map</a></li></ul></div></div></div>
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<title>Youtube</title>
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<style type="text/css">
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<path class="st5" d="M88.4,1037.4c-10.4,0-18.7,8.3-18.7,18.7v40.1c0,10.4,8.3,18.7,18.7,18.7h72.1c10.4,0,18.7-8.3,18.7-18.7 v-40.1c0-10.4-8.3-18.7-18.7-18.7H88.4z M115.2,1058.8l29.4,17.4l-29.4,17.4V1058.8z"></path>
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<p class="address_footer text-white">National Library of Medicine<br />
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
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<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
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<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
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<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
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<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
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<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
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<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
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<li>
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<a class="text-white" href="https://www.nih.gov/">NIH</a>
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
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