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Online Mendelian Inheritance in Man - Wikipedia

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href="#OMIM_numbers"> <div class="vector-toc-text"> <span class="vector-toc-numb">3.1</span> <span>OMIM numbers</span> </div> </a> <ul id="toc-OMIM_numbers-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Symbols_preceding_MIM_numbers" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Symbols_preceding_MIM_numbers"> <div class="vector-toc-text"> <span class="vector-toc-numb">3.2</span> <span>Symbols preceding MIM numbers</span> </div> </a> <ul id="toc-Symbols_preceding_MIM_numbers-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-See_also" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#See_also"> <div class="vector-toc-text"> <span class="vector-toc-numb">4</span> <span>See also</span> </div> </a> <ul id="toc-See_also-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-References" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#References"> <div class="vector-toc-text"> <span class="vector-toc-numb">5</span> <span>References</span> </div> </a> <ul id="toc-References-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-External_links" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#External_links"> <div class="vector-toc-text"> <span class="vector-toc-numb">6</span> <span>External links</span> </div> </a> <ul id="toc-External_links-sublist" class="vector-toc-list"> </ul> </li> </ul> </div> </div> </nav> </div> </div> <div class="mw-content-container"> <main id="content" class="mw-body"> <header class="mw-body-header vector-page-titlebar"> <nav aria-label="Contents" class="vector-toc-landmark"> <div id="vector-page-titlebar-toc" class="vector-dropdown vector-page-titlebar-toc vector-button-flush-left" > <input type="checkbox" id="vector-page-titlebar-toc-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-vector-page-titlebar-toc" class="vector-dropdown-checkbox " aria-label="Toggle the table of contents" > <label id="vector-page-titlebar-toc-label" for="vector-page-titlebar-toc-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--icon-only " aria-hidden="true" ><span class="vector-icon mw-ui-icon-listBullet mw-ui-icon-wikimedia-listBullet"></span> <span class="vector-dropdown-label-text">Toggle the table of contents</span> </label> <div class="vector-dropdown-content"> <div id="vector-page-titlebar-toc-unpinned-container" class="vector-unpinned-container"> </div> </div> </div> </nav> <h1 id="firstHeading" class="firstHeading mw-first-heading"><span class="mw-page-title-main">Online Mendelian Inheritance in Man</span></h1> <div id="p-lang-btn" class="vector-dropdown mw-portlet mw-portlet-lang" > <input type="checkbox" id="p-lang-btn-checkbox" 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Available in 44 languages" > <label id="p-lang-btn-label" for="p-lang-btn-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--action-progressive mw-portlet-lang-heading-44" aria-hidden="true" ><span class="vector-icon mw-ui-icon-language-progressive mw-ui-icon-wikimedia-language-progressive"></span> <span class="vector-dropdown-label-text">44 languages</span> </label> <div class="vector-dropdown-content"> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li class="interlanguage-link interwiki-af mw-list-item"><a href="https://af.wikipedia.org/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man – Afrikaans" lang="af" hreflang="af" data-title="Online Mendelian Inheritance in Man" data-language-autonym="Afrikaans" data-language-local-name="Afrikaans" class="interlanguage-link-target"><span>Afrikaans</span></a></li><li class="interlanguage-link interwiki-ar mw-list-item"><a href="https://ar.wikipedia.org/wiki/%D8%A7%D9%84%D9%88%D8%B1%D8%A7%D8%AB%D8%A9_%D8%A7%D9%84%D9%85%D9%86%D8%AF%D9%84%D9%8A%D8%A9_%D8%A7%D9%84%D8%A8%D8%B4%D8%B1%D9%8A%D8%A9_%D8%B9%D8%A8%D8%B1_%D8%A7%D9%84%D8%A5%D9%86%D8%AA%D8%B1%D9%86%D8%AA" title="الوراثة المندلية البشرية عبر الإنترنت – Arabic" lang="ar" hreflang="ar" data-title="الوراثة المندلية البشرية عبر الإنترنت" data-language-autonym="العربية" data-language-local-name="Arabic" class="interlanguage-link-target"><span>العربية</span></a></li><li class="interlanguage-link interwiki-az mw-list-item"><a href="https://az.wikipedia.org/wiki/OMIM" title="OMIM – Azerbaijani" lang="az" hreflang="az" data-title="OMIM" data-language-autonym="Azərbaycanca" data-language-local-name="Azerbaijani" class="interlanguage-link-target"><span>Azərbaycanca</span></a></li><li class="interlanguage-link interwiki-bg mw-list-item"><a href="https://bg.wikipedia.org/wiki/OMIM" title="OMIM – Bulgarian" lang="bg" hreflang="bg" data-title="OMIM" data-language-autonym="Български" data-language-local-name="Bulgarian" class="interlanguage-link-target"><span>Български</span></a></li><li class="interlanguage-link interwiki-bs mw-list-item"><a href="https://bs.wikipedia.org/wiki/OMIM" title="OMIM – Bosnian" lang="bs" hreflang="bs" data-title="OMIM" data-language-autonym="Bosanski" data-language-local-name="Bosnian" class="interlanguage-link-target"><span>Bosanski</span></a></li><li class="interlanguage-link interwiki-ca mw-list-item"><a href="https://ca.wikipedia.org/wiki/Mendelian_Inheritance_in_Man" title="Mendelian Inheritance in Man – Catalan" lang="ca" hreflang="ca" data-title="Mendelian Inheritance in Man" data-language-autonym="Català" data-language-local-name="Catalan" class="interlanguage-link-target"><span>Català</span></a></li><li class="interlanguage-link interwiki-cy mw-list-item"><a href="https://cy.wikipedia.org/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man – Welsh" lang="cy" hreflang="cy" data-title="Online Mendelian Inheritance in Man" data-language-autonym="Cymraeg" data-language-local-name="Welsh" class="interlanguage-link-target"><span>Cymraeg</span></a></li><li class="interlanguage-link interwiki-da mw-list-item"><a href="https://da.wikipedia.org/wiki/Mendelian_Inheritance_in_Man" title="Mendelian Inheritance in Man – Danish" lang="da" hreflang="da" data-title="Mendelian Inheritance in Man" data-language-autonym="Dansk" data-language-local-name="Danish" class="interlanguage-link-target"><span>Dansk</span></a></li><li class="interlanguage-link interwiki-de mw-list-item"><a href="https://de.wikipedia.org/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man – German" lang="de" hreflang="de" data-title="Online Mendelian Inheritance in Man" data-language-autonym="Deutsch" data-language-local-name="German" class="interlanguage-link-target"><span>Deutsch</span></a></li><li class="interlanguage-link interwiki-et mw-list-item"><a href="https://et.wikipedia.org/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man – Estonian" lang="et" hreflang="et" data-title="Online Mendelian Inheritance in Man" data-language-autonym="Eesti" data-language-local-name="Estonian" class="interlanguage-link-target"><span>Eesti</span></a></li><li class="interlanguage-link interwiki-el mw-list-item"><a href="https://el.wikipedia.org/wiki/%CE%9C%CE%B5%CE%BD%CF%84%CE%B5%CE%BB%CE%B9%CE%BA%CE%AE_%CE%9A%CE%BB%CE%B7%CF%81%CE%BF%CE%BD%CE%BF%CE%BC%CE%B9%CE%BA%CF%8C%CF%84%CE%B7%CF%84%CE%B1_%CF%84%CE%BF%CF%85_%CE%91%CE%BD%CE%B8%CF%81%CF%8E%CF%80%CE%BF%CF%85_%CF%83%CF%84%CE%BF_%CE%94%CE%B9%CE%B1%CE%B4%CE%AF%CE%BA%CF%84%CF%85%CE%BF" title="Μεντελική Κληρονομικότητα του Ανθρώπου στο Διαδίκτυο – Greek" lang="el" hreflang="el" data-title="Μεντελική Κληρονομικότητα του Ανθρώπου στο Διαδίκτυο" data-language-autonym="Ελληνικά" data-language-local-name="Greek" class="interlanguage-link-target"><span>Ελληνικά</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/Herencia_Mendeliana_en_el_Hombre" title="Herencia Mendeliana en el Hombre – Spanish" lang="es" hreflang="es" data-title="Herencia Mendeliana en el Hombre" data-language-autonym="Español" data-language-local-name="Spanish" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-eu mw-list-item"><a href="https://eu.wikipedia.org/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man – Basque" lang="eu" hreflang="eu" data-title="Online Mendelian Inheritance in Man" data-language-autonym="Euskara" data-language-local-name="Basque" class="interlanguage-link-target"><span>Euskara</span></a></li><li class="interlanguage-link interwiki-fa mw-list-item"><a href="https://fa.wikipedia.org/wiki/%D9%85%DB%8C%D8%B1%D8%A7%D8%AB_%D9%85%D9%86%D8%AF%D9%84%DB%8C_%D8%AF%D8%B1_%D8%A7%D9%86%D8%B3%D8%A7%D9%86" title="میراث مندلی در انسان – Persian" lang="fa" hreflang="fa" data-title="میراث مندلی در انسان" data-language-autonym="فارسی" data-language-local-name="Persian" class="interlanguage-link-target"><span>فارسی</span></a></li><li class="interlanguage-link interwiki-fr mw-list-item"><a href="https://fr.wikipedia.org/wiki/H%C3%A9ritage_mend%C3%A9lien_chez_l%27humain" title="Héritage mendélien chez l&#039;humain – French" lang="fr" hreflang="fr" data-title="Héritage mendélien chez l&#039;humain" data-language-autonym="Français" data-language-local-name="French" class="interlanguage-link-target"><span>Français</span></a></li><li class="interlanguage-link interwiki-gl mw-list-item"><a href="https://gl.wikipedia.org/wiki/OMIM" title="OMIM – Galician" lang="gl" hreflang="gl" data-title="OMIM" data-language-autonym="Galego" data-language-local-name="Galician" class="interlanguage-link-target"><span>Galego</span></a></li><li class="interlanguage-link interwiki-ko mw-list-item"><a href="https://ko.wikipedia.org/wiki/OMIM" title="OMIM – Korean" lang="ko" hreflang="ko" data-title="OMIM" data-language-autonym="한국어" data-language-local-name="Korean" class="interlanguage-link-target"><span>한국어</span></a></li><li class="interlanguage-link interwiki-hi mw-list-item"><a href="https://hi.wikipedia.org/wiki/%E0%A4%93%E0%A4%8F%E0%A4%AE%E0%A4%86%E0%A4%88%E0%A4%8F%E0%A4%AE" title="ओएमआईएम – Hindi" lang="hi" hreflang="hi" data-title="ओएमआईएम" data-language-autonym="हिन्दी" data-language-local-name="Hindi" class="interlanguage-link-target"><span>हिन्दी</span></a></li><li class="interlanguage-link interwiki-hr mw-list-item"><a href="https://hr.wikipedia.org/wiki/Online_Mendelovo_naslje%C4%91ivanje_kod_%C4%8Dovjeka" title="Online Mendelovo nasljeđivanje kod čovjeka – Croatian" lang="hr" hreflang="hr" data-title="Online Mendelovo nasljeđivanje kod čovjeka" data-language-autonym="Hrvatski" data-language-local-name="Croatian" class="interlanguage-link-target"><span>Hrvatski</span></a></li><li class="interlanguage-link interwiki-is mw-list-item"><a href="https://is.wikipedia.org/wiki/OMIM" title="OMIM – Icelandic" lang="is" hreflang="is" data-title="OMIM" data-language-autonym="Íslenska" data-language-local-name="Icelandic" class="interlanguage-link-target"><span>Íslenska</span></a></li><li class="interlanguage-link interwiki-it mw-list-item"><a href="https://it.wikipedia.org/wiki/Mendelian_Inheritance_in_Man" title="Mendelian Inheritance in Man – Italian" lang="it" hreflang="it" data-title="Mendelian Inheritance in Man" data-language-autonym="Italiano" data-language-local-name="Italian" class="interlanguage-link-target"><span>Italiano</span></a></li><li class="interlanguage-link interwiki-he mw-list-item"><a href="https://he.wikipedia.org/wiki/OMIM" title="OMIM – Hebrew" lang="he" hreflang="he" data-title="OMIM" data-language-autonym="עברית" data-language-local-name="Hebrew" class="interlanguage-link-target"><span>עברית</span></a></li><li class="interlanguage-link interwiki-hu mw-list-item"><a href="https://hu.wikipedia.org/wiki/Mendeli_%C3%B6r%C3%B6kl%C5%91d%C3%A9s_emberben_adatb%C3%A1zis" title="Mendeli öröklődés emberben adatbázis – Hungarian" lang="hu" hreflang="hu" data-title="Mendeli öröklődés emberben adatbázis" data-language-autonym="Magyar" data-language-local-name="Hungarian" class="interlanguage-link-target"><span>Magyar</span></a></li><li class="interlanguage-link interwiki-ml mw-list-item"><a href="https://ml.wikipedia.org/wiki/%E0%B4%AE%E0%B5%86%E0%B5%BB%E0%B4%A1%E0%B4%B2%E0%B4%BF%E0%B4%AF%E0%B5%BB_%E0%B4%AE%E0%B4%A8%E0%B5%81%E0%B4%B7%E0%B5%8D%E0%B4%AF_%E0%B4%AA%E0%B4%BE%E0%B4%B0%E0%B4%AE%E0%B5%8D%E0%B4%AA%E0%B4%B0%E0%B5%8D%E0%B4%AF_%E0%B4%95%E0%B5%8B%E0%B4%A1%E0%B5%8D" title="മെൻഡലിയൻ മനുഷ്യ പാരമ്പര്യ കോഡ് – Malayalam" lang="ml" hreflang="ml" data-title="മെൻഡലിയൻ മനുഷ്യ പാരമ്പര്യ കോഡ്" data-language-autonym="മലയാളം" data-language-local-name="Malayalam" class="interlanguage-link-target"><span>മലയാളം</span></a></li><li class="interlanguage-link interwiki-nl mw-list-item"><a href="https://nl.wikipedia.org/wiki/Mendelian_Inheritance_in_Man" title="Mendelian Inheritance in Man – Dutch" lang="nl" hreflang="nl" data-title="Mendelian Inheritance in Man" data-language-autonym="Nederlands" data-language-local-name="Dutch" class="interlanguage-link-target"><span>Nederlands</span></a></li><li class="interlanguage-link interwiki-ja mw-list-item"><a href="https://ja.wikipedia.org/wiki/OMIM" title="OMIM – Japanese" lang="ja" hreflang="ja" data-title="OMIM" data-language-autonym="日本語" data-language-local-name="Japanese" class="interlanguage-link-target"><span>日本語</span></a></li><li class="interlanguage-link interwiki-no mw-list-item"><a href="https://no.wikipedia.org/wiki/OMIM" title="OMIM – Norwegian Bokmål" lang="nb" hreflang="nb" data-title="OMIM" data-language-autonym="Norsk bokmål" data-language-local-name="Norwegian Bokmål" class="interlanguage-link-target"><span>Norsk bokmål</span></a></li><li class="interlanguage-link interwiki-pl mw-list-item"><a href="https://pl.wikipedia.org/wiki/Mendelian_Inheritance_in_Man" title="Mendelian Inheritance in Man – Polish" lang="pl" hreflang="pl" data-title="Mendelian Inheritance in Man" data-language-autonym="Polski" data-language-local-name="Polish" class="interlanguage-link-target"><span>Polski</span></a></li><li class="interlanguage-link interwiki-pt mw-list-item"><a href="https://pt.wikipedia.org/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man – Portuguese" lang="pt" hreflang="pt" data-title="Online Mendelian Inheritance in Man" data-language-autonym="Português" data-language-local-name="Portuguese" class="interlanguage-link-target"><span>Português</span></a></li><li class="interlanguage-link interwiki-ro mw-list-item"><a href="https://ro.wikipedia.org/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man – Romanian" lang="ro" hreflang="ro" data-title="Online Mendelian Inheritance in Man" data-language-autonym="Română" data-language-local-name="Romanian" class="interlanguage-link-target"><span>Română</span></a></li><li class="interlanguage-link interwiki-ru mw-list-item"><a href="https://ru.wikipedia.org/wiki/%D0%9C%D0%B5%D0%BD%D0%B4%D0%B5%D0%BB%D0%B5%D0%B2%D1%81%D0%BA%D0%BE%D0%B5_%D0%BD%D0%B0%D1%81%D0%BB%D0%B5%D0%B4%D0%BE%D0%B2%D0%B0%D0%BD%D0%B8%D0%B5_%D1%83_%D1%87%D0%B5%D0%BB%D0%BE%D0%B2%D0%B5%D0%BA%D0%B0" title="Менделевское наследование у человека – Russian" lang="ru" hreflang="ru" data-title="Менделевское наследование у человека" data-language-autonym="Русский" data-language-local-name="Russian" class="interlanguage-link-target"><span>Русский</span></a></li><li class="interlanguage-link interwiki-simple mw-list-item"><a href="https://simple.wikipedia.org/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man – Simple English" lang="en-simple" hreflang="en-simple" data-title="Online Mendelian Inheritance in Man" data-language-autonym="Simple English" data-language-local-name="Simple English" class="interlanguage-link-target"><span>Simple English</span></a></li><li class="interlanguage-link interwiki-sl mw-list-item"><a href="https://sl.wikipedia.org/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man – Slovenian" lang="sl" hreflang="sl" data-title="Online Mendelian Inheritance in Man" data-language-autonym="Slovenščina" data-language-local-name="Slovenian" class="interlanguage-link-target"><span>Slovenščina</span></a></li><li class="interlanguage-link interwiki-sr mw-list-item"><a href="https://sr.wikipedia.org/wiki/%D0%9C%D0%B5%D0%BD%D0%B4%D0%B5%D0%BB%D0%BE%D0%B2%D1%81%D0%BA%D0%BE_%D0%BD%D0%B0%D1%81%D0%BB%D0%B5%D1%92%D0%B8%D0%B2%D0%B0%D1%9A%D0%B5_%D0%BA%D0%BE%D0%B4_%D1%87%D0%BE%D0%B2%D0%B5%D0%BA%D0%B0" title="Менделовско наслеђивање код човека – Serbian" lang="sr" hreflang="sr" data-title="Менделовско наслеђивање код човека" data-language-autonym="Српски / srpski" data-language-local-name="Serbian" class="interlanguage-link-target"><span>Српски / srpski</span></a></li><li class="interlanguage-link interwiki-sh mw-list-item"><a href="https://sh.wikipedia.org/wiki/Mendelovo_naslje%C4%91ivanje_kod_%C4%8Dovjeka" title="Mendelovo nasljeđivanje kod čovjeka – Serbo-Croatian" lang="sh" hreflang="sh" data-title="Mendelovo nasljeđivanje kod čovjeka" data-language-autonym="Srpskohrvatski / српскохрватски" data-language-local-name="Serbo-Croatian" class="interlanguage-link-target"><span>Srpskohrvatski / српскохрватски</span></a></li><li class="interlanguage-link interwiki-fi mw-list-item"><a href="https://fi.wikipedia.org/wiki/Mendelian_Inheritance_in_Man" title="Mendelian Inheritance in Man – Finnish" lang="fi" hreflang="fi" data-title="Mendelian Inheritance in Man" data-language-autonym="Suomi" data-language-local-name="Finnish" class="interlanguage-link-target"><span>Suomi</span></a></li><li class="interlanguage-link interwiki-sv mw-list-item"><a href="https://sv.wikipedia.org/wiki/Mendelian_Inheritance_in_Man" title="Mendelian Inheritance in Man – Swedish" lang="sv" hreflang="sv" data-title="Mendelian Inheritance in Man" data-language-autonym="Svenska" data-language-local-name="Swedish" class="interlanguage-link-target"><span>Svenska</span></a></li><li class="interlanguage-link interwiki-ta mw-list-item"><a href="https://ta.wikipedia.org/wiki/%E0%AE%AE%E0%AE%A9%E0%AE%BF%E0%AE%A4%E0%AE%A9%E0%AE%BF%E0%AE%B2%E0%AF%8D_%E0%AE%87%E0%AE%A3%E0%AF%88%E0%AE%AF%E0%AE%B5%E0%AE%B4%E0%AE%BF_%E0%AE%AE%E0%AF%86%E0%AE%A9%E0%AF%8D%E0%AE%9F%E0%AE%B2%E0%AE%BF%E0%AE%AF%E0%AE%A9%E0%AF%8D_%E0%AE%AE%E0%AE%B0%E0%AE%AA%E0%AF%81%E0%AE%B0%E0%AE%BF%E0%AE%AE%E0%AF%88" title="மனிதனில் இணையவழி மென்டலியன் மரபுரிமை – Tamil" lang="ta" hreflang="ta" data-title="மனிதனில் இணையவழி மென்டலியன் மரபுரிமை" data-language-autonym="தமிழ்" data-language-local-name="Tamil" class="interlanguage-link-target"><span>தமிழ்</span></a></li><li class="interlanguage-link interwiki-tr mw-list-item"><a href="https://tr.wikipedia.org/wiki/OMIM" title="OMIM – Turkish" lang="tr" hreflang="tr" data-title="OMIM" data-language-autonym="Türkçe" data-language-local-name="Turkish" class="interlanguage-link-target"><span>Türkçe</span></a></li><li class="interlanguage-link interwiki-uk mw-list-item"><a href="https://uk.wikipedia.org/wiki/OMIM" title="OMIM – 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<div class="vector-body-before-content"> <div class="mw-indicators"> </div> <div id="siteSub" class="noprint">From Wikipedia, the free encyclopedia</div> </div> <div id="contentSub"><div id="mw-content-subtitle"></div></div> <div id="mw-content-text" class="mw-body-content"><div class="mw-content-ltr mw-parser-output" lang="en" dir="ltr"><div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Online catalog of human genes, with a particular focus on the gene-phenotype relationship</div> <style data-mw-deduplicate="TemplateStyles:r1257001546">.mw-parser-output .infobox-subbox{padding:0;border:none;margin:-3px;width:auto;min-width:100%;font-size:100%;clear:none;float:none;background-color:transparent}.mw-parser-output .infobox-3cols-child{margin:auto}.mw-parser-output .infobox .navbar{font-size:100%}@media screen{html.skin-theme-clientpref-night .mw-parser-output .infobox-full-data:not(.notheme)>div:not(.notheme)[style]{background:#1f1f23!important;color:#f8f9fa}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .infobox-full-data:not(.notheme) div:not(.notheme){background:#1f1f23!important;color:#f8f9fa}}@media(min-width:640px){body.skin--responsive .mw-parser-output .infobox-table{display:table!important}body.skin--responsive .mw-parser-output .infobox-table>caption{display:table-caption!important}body.skin--responsive .mw-parser-output .infobox-table>tbody{display:table-row-group}body.skin--responsive .mw-parser-output .infobox-table tr{display:table-row!important}body.skin--responsive .mw-parser-output .infobox-table th,body.skin--responsive .mw-parser-output .infobox-table td{padding-left:inherit;padding-right:inherit}}</style><table class="infobox vevent" style="width:"><caption class="infobox-title summary">Online Mendelian Inheritance in Man</caption><tbody><tr><th colspan="2" class="infobox-header" style="background-color: lavender">Content</th></tr><tr><th scope="row" class="infobox-label" style="white-space: nowrap">Description</th><td class="infobox-data">Catalog of all known human genes and genetic phenotypes.</td></tr><tr><th scope="row" class="infobox-label" style="white-space: nowrap">Data types<br />captured</th><td class="infobox-data"><a href="/wiki/Human_genome" title="Human genome">Genes</a>, <a href="/wiki/Genetic_disorder" title="Genetic disorder">genetic disorders</a>, <a href="/wiki/Phenotypic_trait" title="Phenotypic trait">phenotypic traits</a></td></tr><tr><th scope="row" class="infobox-label" style="white-space: nowrap"><a href="/wiki/Organism" title="Organism">Organisms</a></th><td class="infobox-data"><i><a href="/wiki/Homo_sapiens" class="mw-redirect" title="Homo sapiens">Homo sapiens</a></i></td></tr><tr><th colspan="2" class="infobox-header" style="background-color: lavender">Contact</th></tr><tr><th scope="row" class="infobox-label" style="white-space: nowrap"><a href="/wiki/Research_center" class="mw-redirect" title="Research center">Research center</a></th><td class="infobox-data"><a href="/wiki/Johns_Hopkins_University_School_of_Medicine" class="mw-redirect" title="Johns Hopkins University School of Medicine">Johns Hopkins University School of Medicine</a></td></tr><tr><th scope="row" class="infobox-label" style="white-space: nowrap">Primary citation</th><td class="infobox-data"><style data-mw-deduplicate="TemplateStyles:r1238218222">.mw-parser-output cite.citation{font-style:inherit;word-wrap:break-word}.mw-parser-output .citation q{quotes:"\"""\"""'""'"}.mw-parser-output .citation:target{background-color:rgba(0,127,255,0.133)}.mw-parser-output .id-lock-free.id-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/6/65/Lock-green.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-limited.id-lock-limited a,.mw-parser-output .id-lock-registration.id-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/d/d6/Lock-gray-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-subscription.id-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/a/aa/Lock-red-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/4/4c/Wikisource-logo.svg")right 0.1em center/12px no-repeat}body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-free a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-limited a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-registration a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-subscription a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .cs1-ws-icon a{background-size:contain;padding:0 1em 0 0}.mw-parser-output .cs1-code{color:inherit;background:inherit;border:none;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;color:var(--color-error,#d33)}.mw-parser-output .cs1-visible-error{color:var(--color-error,#d33)}.mw-parser-output .cs1-maint{display:none;color:#085;margin-left:0.3em}.mw-parser-output .cs1-kern-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right{padding-right:0.2em}.mw-parser-output .citation .mw-selflink{font-weight:inherit}@media screen{.mw-parser-output .cs1-format{font-size:95%}html.skin-theme-clientpref-night .mw-parser-output .cs1-maint{color:#18911f}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .cs1-maint{color:#18911f}}</style><a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a>&#160;<a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/21472891">21472891</a></td></tr><tr><th colspan="2" class="infobox-header" style="background-color: lavender">Access</th></tr><tr><th scope="row" class="infobox-label" style="white-space: nowrap">Website</th><td class="infobox-data"><a rel="nofollow" class="external free" href="http://www.omim.org/">http://www.omim.org/</a></td></tr></tbody></table> <p><b>Online Mendelian Inheritance in Man</b> (<b>OMIM</b>) is a continuously updated catalog of <a href="/wiki/Human_genome" title="Human genome">human genes</a> and <a href="/wiki/Genetic_disorder" title="Genetic disorder">genetic disorders</a> and <a href="/wiki/Phenotypic_trait" title="Phenotypic trait">traits</a>, with a particular focus on the <a href="/wiki/Genotype-phenotype_distinction" class="mw-redirect" title="Genotype-phenotype distinction">gene-phenotype relationship</a>. As of 28&#160;June&#160;2019<sup class="plainlinks noexcerpt noprint asof-tag update" style="display:none;"><a class="external text" href="https://en.wikipedia.org/w/index.php?title=Online_Mendelian_Inheritance_in_Man&amp;action=edit">&#91;update&#93;</a></sup>, approximately 9,000 of the over 25,000 entries in OMIM represented <a href="/wiki/Phenotype" title="Phenotype">phenotypes</a>; the rest represented <a href="/wiki/Gene" title="Gene">genes</a>, many of which were related to known phenotypes.<sup id="cite_ref-1" class="reference"><a href="#cite_note-1"><span class="cite-bracket">&#91;</span>1<span class="cite-bracket">&#93;</span></a></sup> </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Versions_and_history">Versions and history</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Online_Mendelian_Inheritance_in_Man&amp;action=edit&amp;section=1" title="Edit section: Versions and history"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>OMIM is the online continuation of <a href="/wiki/Victor_A._McKusick" title="Victor A. McKusick">Victor A. McKusick</a>'s <i>Mendelian Inheritance in Man</i> (MIM), which was published in 12 editions between 1966 and 1998.<sup id="cite_ref-MIM1_2-0" class="reference"><a href="#cite_note-MIM1-2"><span class="cite-bracket">&#91;</span>2<span class="cite-bracket">&#93;</span></a></sup><sup id="cite_ref-3" class="reference"><a href="#cite_note-3"><span class="cite-bracket">&#91;</span>3<span class="cite-bracket">&#93;</span></a></sup><sup id="cite_ref-4" class="reference"><a href="#cite_note-4"><span class="cite-bracket">&#91;</span>4<span class="cite-bracket">&#93;</span></a></sup> Nearly all of the 1,486 entries in the first edition of MIM discussed phenotypes.<sup id="cite_ref-MIM1_2-1" class="reference"><a href="#cite_note-MIM1-2"><span class="cite-bracket">&#91;</span>2<span class="cite-bracket">&#93;</span></a></sup> </p><p>MIM/OMIM is produced and curated at the <a href="/wiki/Johns_Hopkins_School_of_Medicine" title="Johns Hopkins School of Medicine">Johns Hopkins School of Medicine</a> (JHUSOM). OMIM became available on the internet in 1987 under the direction of the <a href="/w/index.php?title=Welch_Medical_Library&amp;action=edit&amp;redlink=1" class="new" title="Welch Medical Library (page does not exist)">Welch Medical Library</a> at JHUSOM with financial support from the <a href="/wiki/Howard_Hughes_Medical_Institute" title="Howard Hughes Medical Institute">Howard Hughes Medical Institute</a>. From 1995 to 2010, OMIM was available on the <a href="/wiki/World_Wide_Web" title="World Wide Web">World Wide Web</a> with <a href="/wiki/Informatics" title="Informatics">informatics</a> and financial support from the <a href="/wiki/National_Center_for_Biotechnology_Information" title="National Center for Biotechnology Information">National Center for Biotechnology Information</a>. The current OMIM website (<a rel="nofollow" class="external text" href="http://www.omim.org">OMIM.org</a>), which was developed with funding from JHUSOM, is maintained by <a href="/wiki/Johns_Hopkins_University" title="Johns Hopkins University">Johns Hopkins University</a> with financial support from the <a href="/wiki/National_Human_Genome_Research_Institute" title="National Human Genome Research Institute">National Human Genome Research Institute</a>.<sup id="cite_ref-new_face_5-0" class="reference"><a href="#cite_note-new_face-5"><span class="cite-bracket">&#91;</span>5<span class="cite-bracket">&#93;</span></a></sup><sup id="cite_ref-6" class="reference"><a href="#cite_note-6"><span class="cite-bracket">&#91;</span>6<span class="cite-bracket">&#93;</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Collection_process_and_use">Collection process and use</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Online_Mendelian_Inheritance_in_Man&amp;action=edit&amp;section=2" title="Edit section: Collection process and use"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The content of MIM/OMIM is based on selection and review of the published <a href="/wiki/Scholarly_peer_review" title="Scholarly peer review">peer-reviewed</a> biomedical literature. Updating of content is performed by a team of science writers and curators under the direction of <a href="/wiki/Ada_Hamosh" title="Ada Hamosh">Ada Hamosh</a> at the McKusick-Nathans Institute of Genetic Medicine of Johns Hopkins University. While OMIM is freely available to the public, it is designed for use primarily by physicians and other health care professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine.<sup id="cite_ref-new_face_5-1" class="reference"><a href="#cite_note-new_face-5"><span class="cite-bracket">&#91;</span>5<span class="cite-bracket">&#93;</span></a></sup> </p><p>The database may be used as a resource for locating literature relevant to inherited conditions,<sup id="cite_ref-7" class="reference"><a href="#cite_note-7"><span class="cite-bracket">&#91;</span>7<span class="cite-bracket">&#93;</span></a></sup> and its <a href="#MIM_classification_system">numbering system</a> is widely used in the medical literature to provide a unified index for genetic diseases.<sup id="cite_ref-8" class="reference"><a href="#cite_note-8"><span class="cite-bracket">&#91;</span>8<span class="cite-bracket">&#93;</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="OMIM_classification_system">OMIM classification system</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Online_Mendelian_Inheritance_in_Man&amp;action=edit&amp;section=3" title="Edit section: OMIM classification system"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1236090951">.mw-parser-output .hatnote{font-style:italic}.mw-parser-output div.hatnote{padding-left:1.6em;margin-bottom:0.5em}.mw-parser-output .hatnote i{font-style:normal}.mw-parser-output .hatnote+link+.hatnote{margin-top:-0.5em}@media print{body.ns-0 .mw-parser-output .hatnote{display:none!important}}</style><div role="note" class="hatnote navigation-not-searchable">See also: <a href="/wiki/List_of_OMIM_disorder_codes" title="List of OMIM disorder codes">List of OMIM disorder codes</a></div> <div class="mw-heading mw-heading3"><h3 id="OMIM_numbers">OMIM numbers</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Online_Mendelian_Inheritance_in_Man&amp;action=edit&amp;section=4" title="Edit section: OMIM numbers"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Each OMIM entry is given a unique six-digit identifier<sup id="cite_ref-FAQ1.2_9-0" class="reference"><a href="#cite_note-FAQ1.2-9"><span class="cite-bracket">&#91;</span>9<span class="cite-bracket">&#93;</span></a></sup> as summarized below: </p> <ul><li>100000–299999: Autosomal <a href="/wiki/Locus_(genetics)" title="Locus (genetics)">loci</a> or phenotypes (entries created before May 15, 1994)</li> <li>300000–399999: <a href="/wiki/X-linked" class="mw-redirect" title="X-linked">X-linked</a> loci or phenotypes</li> <li>400000–499999: <a href="/wiki/Y-linked" class="mw-redirect" title="Y-linked">Y-linked</a> loci or phenotypes</li> <li>500000–599999: <a href="/wiki/Mitochondrial" class="mw-redirect" title="Mitochondrial">Mitochondrial</a> loci or phenotypes</li> <li>600000 and above: <a href="/wiki/Autosomal" class="mw-redirect" title="Autosomal">Autosomal</a> loci or phenotypes (entries created after May 15, 1994)</li></ul> <p>In cases of <a href="/wiki/Allelic_heterogeneity" title="Allelic heterogeneity">allelic heterogeneity</a>, the MIM number of the entry is followed by a decimal point and a unique 4-digit number specifying the variant.<sup id="cite_ref-FAQ1.2_9-1" class="reference"><a href="#cite_note-FAQ1.2-9"><span class="cite-bracket">&#91;</span>9<span class="cite-bracket">&#93;</span></a></sup> For example, allelic variants in the <a href="/wiki/HBB" class="mw-redirect" title="HBB">HBB</a> gene (141900) are numbered 141900.0001 through 141900.0538.<sup id="cite_ref-10" class="reference"><a href="#cite_note-10"><span class="cite-bracket">&#91;</span>10<span class="cite-bracket">&#93;</span></a></sup> </p><p>Because OMIM has responsibility for the classification and naming of genetic disorders, these numbers are stable identifiers of the disorders.<sup id="cite_ref-new_face_5-2" class="reference"><a href="#cite_note-new_face-5"><span class="cite-bracket">&#91;</span>5<span class="cite-bracket">&#93;</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Symbols_preceding_MIM_numbers">Symbols preceding MIM numbers</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Online_Mendelian_Inheritance_in_Man&amp;action=edit&amp;section=5" title="Edit section: Symbols preceding MIM numbers"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Symbols preceding MIM numbers<sup id="cite_ref-FAQ1.3_11-0" class="reference"><a href="#cite_note-FAQ1.3-11"><span class="cite-bracket">&#91;</span>11<span class="cite-bracket">&#93;</span></a></sup> indicate the entry category: </p> <ul><li>An asterisk (*) before an entry number indicates a gene.</li> <li>A number symbol (#) before an entry number indicates that it is a descriptive entry, usually of a phenotype, and does not represent a unique locus. The reason for the use of the number symbol is given in the first paragraph of the entry. Discussion of any gene(s) related to the phenotype resides in another entry (or entries) as described in the first paragraph.</li> <li>A plus sign (+) before an entry number indicates that the entry contains the description of a gene of known sequence and a phenotype.</li> <li>A percent sign (%) before an entry number indicates that the entry describes a confirmed Mendelian phenotype or phenotypic locus for which the underlying molecular basis is not known.</li> <li>No symbol before an entry number generally indicates a description of a phenotype for which the Mendelian basis, although suspected, has not been clearly established or that the separateness of this phenotype from that in another entry is unclear.</li> <li>A <a href="/wiki/Caret" title="Caret">caret</a> (^) before an entry number means the entry no longer exists because it was removed from the database or moved to another entry as indicated.</li></ul> <div class="mw-heading mw-heading2"><h2 id="See_also">See also</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Online_Mendelian_Inheritance_in_Man&amp;action=edit&amp;section=6" title="Edit section: See also"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a href="/wiki/Mendelian_inheritance" title="Mendelian inheritance">Mendelian inheritance</a></li> <li><a href="/wiki/Online_Mendelian_Inheritance_in_Animals" title="Online Mendelian Inheritance in Animals">Online Mendelian Inheritance in Animals</a></li> <li><a href="/wiki/Medical_classification" title="Medical classification">Medical classification</a></li> <li><a href="/wiki/Comparative_Toxicogenomics_Database" title="Comparative Toxicogenomics Database">Comparative Toxicogenomics Database</a>, a database that integrates chemicals and genes with human diseases, including OMIM data.</li> <li><a href="/wiki/DECIPHER" title="DECIPHER">DECIPHER</a>, a database of chromosomal imbalance and associated phenotype in humans, using <a href="/wiki/Ensembl" class="mw-redirect" title="Ensembl">Ensembl</a> resources.</li> <li><a href="/w/index.php?title=MARRVEL&amp;action=edit&amp;redlink=1" class="new" title="MARRVEL (page does not exist)">MARRVEL</a>, a website that uses OMIM as one of the six human genetic databases and seven model organism databases to integrate information.</li></ul> <div class="mw-heading mw-heading2"><h2 id="References">References</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Online_Mendelian_Inheritance_in_Man&amp;action=edit&amp;section=7" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239543626">.mw-parser-output .reflist{margin-bottom:0.5em;list-style-type:decimal}@media screen{.mw-parser-output .reflist{font-size:90%}}.mw-parser-output .reflist .references{font-size:100%;margin-bottom:0;list-style-type:inherit}.mw-parser-output .reflist-columns-2{column-width:30em}.mw-parser-output .reflist-columns-3{column-width:25em}.mw-parser-output .reflist-columns{margin-top:0.3em}.mw-parser-output .reflist-columns ol{margin-top:0}.mw-parser-output .reflist-columns li{page-break-inside:avoid;break-inside:avoid-column}.mw-parser-output .reflist-upper-alpha{list-style-type:upper-alpha}.mw-parser-output .reflist-upper-roman{list-style-type:upper-roman}.mw-parser-output .reflist-lower-alpha{list-style-type:lower-alpha}.mw-parser-output .reflist-lower-greek{list-style-type:lower-greek}.mw-parser-output .reflist-lower-roman{list-style-type:lower-roman}</style><div class="reflist reflist-columns references-column-width" style="column-width: 30em;"> <ol class="references"> <li id="cite_note-1"><span class="mw-cite-backlink"><b><a href="#cite_ref-1">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="http://www.omim.org/statistics/entry">"OMIM Entry Statistics"</a>. <i>Online Mendelian Inheritance in Man</i>. Baltimore, MD: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University. 2019<span class="reference-accessdate">. Retrieved <span class="nowrap">28 June</span> 2019</span>.</cite><span title="ctx_ver=Z39.88-2004&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&amp;rft.genre=unknown&amp;rft.jtitle=Online+Mendelian+Inheritance+in+Man&amp;rft.atitle=OMIM+Entry+Statistics&amp;rft.date=2019&amp;rft_id=http%3A%2F%2Fwww.omim.org%2Fstatistics%2Fentry&amp;rfr_id=info%3Asid%2Fen.wikipedia.org%3AOnline+Mendelian+Inheritance+in+Man" class="Z3988"></span></span> </li> <li id="cite_note-MIM1-2"><span class="mw-cite-backlink">^ <a href="#cite_ref-MIM1_2-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-MIM1_2-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text">McKusick, V. A. <i>Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes.</i> Baltimore, MD: Johns Hopkins University Press, 1st ed, 1996; 2nd ed, 1969; 3rd ed, 1971; 4th ed, 1975; 5th ed, 1978; 6th ed, 1983; 7th ed, 1986; 8th ed, 1988; 9th ed, 1990; 10th ed, 1992.</span> </li> <li id="cite_note-3"><span class="mw-cite-backlink"><b><a href="#cite_ref-3">^</a></b></span> <span class="reference-text">McKusick, V. A. <i>Mendelian Inheritance in Man. A Catalog of Human Genes and Genetic Disorders.</i> Baltimore, MD: Johns Hopkins University Press, 11th ed, 1994; 12th ed, 1998.</span> </li> <li id="cite_note-4"><span class="mw-cite-backlink"><b><a href="#cite_ref-4">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFMcKusick2007" class="citation journal cs1">McKusick, V. A. 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Genet</i>. <b>80</b> (4): 588–604. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1086%2F514346">10.1086/514346</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a>&#160;<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852721">1852721</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a>&#160;<a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/17357067">17357067</a>.</cite><span title="ctx_ver=Z39.88-2004&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&amp;rft.genre=article&amp;rft.jtitle=Am.+J.+Hum.+Genet.&amp;rft.atitle=Mendelian+Inheritance+in+Man+and+its+online+version%2C+OMIM&amp;rft.volume=80&amp;rft.issue=4&amp;rft.pages=588-604&amp;rft.date=2007&amp;rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1852721%23id-name%3DPMC&amp;rft_id=info%3Apmid%2F17357067&amp;rft_id=info%3Adoi%2F10.1086%2F514346&amp;rft.aulast=McKusick&amp;rft.aufirst=V.+A.&amp;rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1852721&amp;rfr_id=info%3Asid%2Fen.wikipedia.org%3AOnline+Mendelian+Inheritance+in+Man" class="Z3988"></span></span> </li> <li id="cite_note-new_face-5"><span class="mw-cite-backlink">^ <a href="#cite_ref-new_face_5-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-new_face_5-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-new_face_5-2"><sup><i><b>c</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFAmbergerBocchiniHamosh2011" class="citation journal cs1">Amberger, J.; Bocchini, C.; Hamosh, A. 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Mutat</i>. <b>32</b> (5): 564–7. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1002%2Fhumu.21466">10.1002/humu.21466</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a>&#160;<a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/21472891">21472891</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a>&#160;<a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:39087815">39087815</a>.</cite><span title="ctx_ver=Z39.88-2004&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&amp;rft.genre=article&amp;rft.jtitle=Hum.+Mutat.&amp;rft.atitle=A+new+face+and+new+challenges+for+Online+Mendelian+Inheritance+in+Man+%28OMIM%C2%AE%29&amp;rft.volume=32&amp;rft.issue=5&amp;rft.pages=564-7&amp;rft.date=2011&amp;rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A39087815%23id-name%3DS2CID&amp;rft_id=info%3Apmid%2F21472891&amp;rft_id=info%3Adoi%2F10.1002%2Fhumu.21466&amp;rft.aulast=Amberger&amp;rft.aufirst=J.&amp;rft.au=Bocchini%2C+C.&amp;rft.au=Hamosh%2C+A.&amp;rfr_id=info%3Asid%2Fen.wikipedia.org%3AOnline+Mendelian+Inheritance+in+Man" class="Z3988"></span></span> </li> <li id="cite_note-6"><span class="mw-cite-backlink"><b><a href="#cite_ref-6">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFAmbergerBocchiniSchiettecatteScott2015" class="citation journal cs1">Amberger, J.S.; Bocchini, C.A.; Schiettecatte, F.; Scott, A.F.; Hamosh, A. 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