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<meta name="keywords" content="C2681923, disease or syndrome, retinitis pigmentosa 2, retinitis pigmentosa 2, x linked, retinitis pigmentosa caused by mutation in rp2, retinitis pigmentosa type 2, rp2, rp2 retinitis pigmentosa, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Retinitis pigmentosa is characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment. RP unassociated with other abnormalities is inherited most frequently (84%) as an autosomal recessive, next as an autosomal dominant (10%), and least frequently (6%) as an X-linked recessive in the white U.S. population (Boughman et al., 1980). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=394544
|
||
ConceptID=C2681923
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Retinitis pigmentosa 2<span class="h1sub">(RP2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394544</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."><span class="highlight" style="background-color:">C2681923</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Retinitis pigmentosa 2, X linked; RP2</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="RP2 - ID: 6102 - NCBI Gene" href="/gene/6102" class="medgenPMinfo">RP2</a> (Xp11.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010723" target="_blank">MONDO:0010723</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/312600" target="_blank">312600</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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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>
|
||
<div class="portlet_content ln">Retinitis pigmentosa is characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment. RP unassociated with other abnormalities is inherited most frequently (84%) as an autosomal recessive, next as an autosomal dominant (10%), and least frequently (6%) as an X-linked recessive in the white U.S. population (Boughman et al., 1980). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_44558"><div><strong>Myopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44558</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.">C0027092</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44558">Feature record</a> | <a href="/medgen?term=%22Myopia%22%5BClinical%20Features%5D%20OR%2044558%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10349"><div><strong>Night blindness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10349</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.">C0028077</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inability to see well at night or in poor light.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10349">Feature record</a> | <a href="/medgen?term=%22Night%20blindness%22%5BClinical%20Features%5D%20OR%2010349%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39462"><div><strong>Cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39462</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.">C0086543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39462">Feature record</a> | <a href="/medgen?term=%22Cataract%22%5BClinical%20Features%5D%20OR%2039462%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57750"><div><strong>Central scotoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57750</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.">C0152191</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An area of depressed vision located at the point of fixation and that interferes with central vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57750">Feature record</a> | <a href="/medgen?term=%22Central%20scotoma%22%5BClinical%20Features%5D%20OR%2057750%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68613"><div><strong>Constriction of peripheral visual field</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68613</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.">C0235095</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68613">Feature record</a> | <a href="/medgen?term=%22Constriction%20of%20peripheral%20visual%20field%22%5BClinical%20Features%5D%20OR%2068613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78759"><div><strong>High myopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78759</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.">C0271183</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe form of myopia with greater than -6.00 diopters.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78759">Feature record</a> | <a href="/medgen?term=%22High%20myopia%22%5BClinical%20Features%5D%20OR%2078759%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140951"><div><strong>Ring scotoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140951</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.">C0438434</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An annular field defect centered on fixation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140951">Feature record</a> | <a href="/medgen?term=%22Ring%20scotoma%22%5BClinical%20Features%5D%20OR%20140951%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99273"><div><strong>Chorioretinal degeneration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99273</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.">C0521683</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99273">Feature record</a> | <a href="/medgen?term=%22Chorioretinal%20degeneration%22%5BClinical%20Features%5D%20OR%2099273%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_231156"><div><strong>Pericentral scotoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>231156</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.">C1321308</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/231156">Feature record</a> | <a href="/medgen?term=%22Pericentral%20scotoma%22%5BClinical%20Features%5D%20OR%20231156%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_321812"><div><strong>Bull eye maculopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>321812</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.">C1828210</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/321812">Feature record</a> | <a href="/medgen?term=%22Bull%20eye%20maculopathy%22%5BClinical%20Features%5D%20OR%20321812%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_382226"><div><strong>Fundus atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382226</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.">C2673929</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382226">Feature record</a> | <a href="/medgen?term=%22Fundus%20atrophy%22%5BClinical%20Features%5D%20OR%20382226%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1632921"><div><strong>Rod-cone dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632921</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.">C4551714</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1632921">Feature record</a> | <a href="/medgen?term=%22Rod-cone%20dystrophy%22%5BClinical%20Features%5D%20OR%201632921%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1643295"><div><strong>Pigmentary retinopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643295</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.">C4551715</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1643295">Feature record</a> | <a href="/medgen?term=%22Pigmentary%20retinopathy%22%5BClinical%20Features%5D%20OR%201643295%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_321812" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bull eye maculopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39462" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57750" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Central scotoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99273" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chorioretinal degeneration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Constriction of peripheral visual field</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_382226" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fundus atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78759" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High myopia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44558" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10349" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Night blindness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_231156" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pericentral scotoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1643295" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pigmentary retinopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140951" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ring scotoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1632921" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rod-cone dystrophy</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<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>
|
||
<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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0035334[DISCUI]&test_type=Clinical" ref="ncbi_uid=20551">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0035334[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=20551">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=20551" target="_blank" href="/omim/268000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=20551">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=20551" ref="ncbi_uid=20551">V</a></span></span><span class="TLline"><a href="/medgen/20551" ref="tree=GTR&ncbi_uid=20551&link_uid=20551" title="View MedGen record for 'Retinitis pigmentosa'">Retinitis pigmentosa</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1843816[DISCUI]&test_type=Clinical" ref="ncbi_uid=334499">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334499" target="_blank" href="/omim/180090">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=334499" ref="ncbi_uid=334499">V</a></span></span><span class="TLline"><a href="/medgen/334499" ref="tree=GTR&ncbi_uid=334499&link_uid=334499" title="View MedGen record for 'Bothnia retinal dystrophy'">Bothnia retinal dystrophy</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751763[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=416624">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=416624" target="_blank" href="/omim/604392">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=416624" ref="ncbi_uid=416624">V</a></span></span><span class="TLline"><a href="/medgen/416624" ref="tree=GTR&ncbi_uid=416624&link_uid=416624" title="View MedGen record for 'Juvenile retinitis pigmentosa, AIPL1-related'">Juvenile retinitis pigmentosa, AIPL1-related</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1858677[DISCUI]&test_type=Clinical" ref="ncbi_uid=346964">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346964" target="_blank" href="/omim/604232">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK531510/" ref="ncbi_uid=346964">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=346964" ref="ncbi_uid=346964">V</a></span></span><span class="TLline"><a href="/medgen/346964" ref="tree=GTR&ncbi_uid=346964&link_uid=346964" title="View MedGen record for 'Leber congenital amaurosis 3'">Leber congenital amaurosis 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675186[DISCUI]&test_type=Clinical" ref="ncbi_uid=382544">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382544" target="_blank" href="/omim/608830">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1417%20OR%20NBK531510)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=382544">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=382544" ref="ncbi_uid=382544">V</a></span></span><span class="TLline"><a href="/medgen/382544" ref="tree=GTR&ncbi_uid=382544&link_uid=382544" title="View MedGen record for 'Leber congenital amaurosis 13'">Leber congenital amaurosis 13</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN043634[DISCUI]&test_type=Clinical" ref="ncbi_uid=433159">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1173/" ref="ncbi_uid=433159">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=433159" ref="ncbi_uid=433159">V</a></span></span><span class="TLline"><a href="/medgen/433159" ref="tree=GTR&ncbi_uid=433159&link_uid=433159" title="View MedGen record for 'Mitochondrial DNA-Associated Leigh Syndrome and NARP'">Mitochondrial DNA-Associated Leigh Syndrome and NARP</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0220701[DISCUI]&test_type=Clinical" ref="ncbi_uid=67395">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=67395" target="_blank" href="/omim/180100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=67395">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=67395" ref="ncbi_uid=67395">V</a></span></span><span class="TLline"><a href="/medgen/67395" ref="tree=GTR&ncbi_uid=67395&link_uid=67395" title="View MedGen record for 'Retinitis pigmentosa 1'">Retinitis pigmentosa 1</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2681923[DISCUI]&test_type=Clinical" ref="ncbi_uid=394544">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=394544" target="_blank" href="/omim/300757">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=394544">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=394544" ref="ncbi_uid=394544">V</a></span></span><span class="TLline">Retinitis pigmentosa 2</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1845667[DISCUI]&test_type=Clinical" ref="ncbi_uid=336999">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=336999" target="_blank" href="/omim/300029">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=336999">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=336999" ref="ncbi_uid=336999">V</a></span></span><span class="TLline"><a href="/medgen/336999" ref="tree=GTR&ncbi_uid=336999&link_uid=336999" title="View MedGen record for 'Retinitis pigmentosa 3'">Retinitis pigmentosa 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151001[DISCUI]&test_type=Clinical" ref="ncbi_uid=462351">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462351" target="_blank" href="/omim/180380">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462351">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462351" ref="ncbi_uid=462351">V</a></span></span><span class="TLline"><a href="/medgen/462351" ref="tree=GTR&ncbi_uid=462351&link_uid=462351" title="View MedGen record for 'Retinitis pigmentosa 4'">Retinitis pigmentosa 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842475[DISCUI]&test_type=Clinical" ref="ncbi_uid=334168">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334168" target="_blank" href="/omim/179605">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=334168">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=334168" ref="ncbi_uid=334168">V</a></span></span><span class="TLline"><a href="/medgen/334168" ref="tree=GTR&ncbi_uid=334168&link_uid=334168" title="View MedGen record for 'Retinitis pigmentosa 7'">Retinitis pigmentosa 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1867300[DISCUI]&test_type=Clinical" ref="ncbi_uid=356743">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356743" target="_blank" href="/omim/180104">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=356743">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=356743" ref="ncbi_uid=356743">V</a></span></span><span class="TLline"><a href="/medgen/356743" ref="tree=GTR&ncbi_uid=356743&link_uid=356743" title="View MedGen record for 'Retinitis pigmentosa 9'">Retinitis pigmentosa 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1867299[DISCUI]&test_type=Clinical" ref="ncbi_uid=357247">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=357247" target="_blank" href="/omim/146690">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=357247">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=357247" ref="ncbi_uid=357247">V</a></span></span><span class="TLline"><a href="/medgen/357247" ref="tree=GTR&ncbi_uid=357247&link_uid=357247" title="View MedGen record for 'Retinitis pigmentosa 10'">Retinitis pigmentosa 10</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838601[DISCUI]&test_type=Clinical" ref="ncbi_uid=325055">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325055" target="_blank" href="/omim/600138">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=325055">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=325055" ref="ncbi_uid=325055">V</a></span></span><span class="TLline"><a href="/medgen/325055" ref="tree=GTR&ncbi_uid=325055&link_uid=325055" title="View MedGen record for 'Retinitis pigmentosa 11'">Retinitis pigmentosa 11</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838647[DISCUI]&test_type=Clinical" ref="ncbi_uid=374019">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=374019" target="_blank" href="/omim/600105">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=374019">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=374019" ref="ncbi_uid=374019">V</a></span></span><span class="TLline"><a href="/medgen/374019" ref="tree=GTR&ncbi_uid=374019&link_uid=374019" title="View MedGen record for 'Retinitis pigmentosa 12'">Retinitis pigmentosa 12</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838702[DISCUI]&test_type=Clinical" ref="ncbi_uid=325486">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325486" target="_blank" href="/omim/600059">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=325486">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=325486" ref="ncbi_uid=325486">V</a></span></span><span class="TLline"><a href="/medgen/325486" ref="tree=GTR&ncbi_uid=325486&link_uid=325486" title="View MedGen record for 'Retinitis pigmentosa 13'">Retinitis pigmentosa 13</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838603[DISCUI]&test_type=Clinical" ref="ncbi_uid=325056">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325056" target="_blank" href="/omim/600132">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=325056">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=325056" ref="ncbi_uid=325056">V</a></span></span><span class="TLline"><a href="/medgen/325056" ref="tree=GTR&ncbi_uid=325056&link_uid=325056" title="View MedGen record for 'Retinitis pigmentosa 14'">Retinitis pigmentosa 14</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1833245[DISCUI]&test_type=Clinical" ref="ncbi_uid=322153">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322153" target="_blank" href="/omim/600852">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=322153">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322153" ref="ncbi_uid=322153">V</a></span></span><span class="TLline"><a href="/medgen/322153" ref="tree=GTR&ncbi_uid=322153&link_uid=322153" title="View MedGen record for 'Retinitis pigmentosa 17'">Retinitis pigmentosa 17</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832378[DISCUI]&test_type=Clinical" ref="ncbi_uid=371314">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=371314" target="_blank" href="/omim/601414">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=371314">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=371314" ref="ncbi_uid=371314">V</a></span></span><span class="TLline"><a href="/medgen/371314" ref="tree=GTR&ncbi_uid=371314&link_uid=371314" title="View MedGen record for 'Retinitis pigmentosa 18'">Retinitis pigmentosa 18</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866422[DISCUI]&test_type=Clinical" ref="ncbi_uid=400996">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400996" target="_blank" href="/omim/601691">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=400996">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=400996" ref="ncbi_uid=400996">V</a></span></span><span class="TLline"><a href="/medgen/400996" ref="tree=GTR&ncbi_uid=400996&link_uid=400996" title="View MedGen record for 'Retinitis pigmentosa 19'">Retinitis pigmentosa 19</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151086[DISCUI]&test_type=Clinical" ref="ncbi_uid=462436">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462436" target="_blank" href="/omim/180069">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462436">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462436" ref="ncbi_uid=462436">V</a></span></span><span class="TLline"><a href="/medgen/462436" ref="tree=GTR&ncbi_uid=462436&link_uid=462436" title="View MedGen record for 'Retinitis pigmentosa 20'">Retinitis pigmentosa 20</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864446[DISCUI]&test_type=Clinical" ref="ncbi_uid=350427">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350427" target="_blank" href="/omim/602772">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=350427">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=350427" ref="ncbi_uid=350427">V</a></span></span><span class="TLline"><a href="/medgen/350427" ref="tree=GTR&ncbi_uid=350427&link_uid=350427" title="View MedGen record for 'Retinitis pigmentosa 25'">Retinitis pigmentosa 25</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842127[DISCUI]&test_type=Clinical" ref="ncbi_uid=333996">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=333996" target="_blank" href="/omim/608380">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=333996">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=333996" ref="ncbi_uid=333996">V</a></span></span><span class="TLline"><a href="/medgen/333996" ref="tree=GTR&ncbi_uid=333996&link_uid=333996" title="View MedGen record for 'Retinitis pigmentosa 26'">Retinitis pigmentosa 26</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1834329[DISCUI]&test_type=Clinical" ref="ncbi_uid=320323">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=320323" target="_blank" href="/omim/162080">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=320323">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=320323" ref="ncbi_uid=320323">V</a></span></span><span class="TLline"><a href="/medgen/320323" ref="tree=GTR&ncbi_uid=320323&link_uid=320323" title="View MedGen record for 'Retinitis pigmentosa 27'">Retinitis pigmentosa 27</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1419614[DISCUI]&test_type=Clinical" ref="ncbi_uid=244030">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=244030" target="_blank" href="/omim/606068">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=244030">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=244030" ref="ncbi_uid=244030">V</a></span></span><span class="TLline"><a href="/medgen/244030" ref="tree=GTR&ncbi_uid=244030&link_uid=244030" title="View MedGen record for 'Retinitis pigmentosa 28'">Retinitis pigmentosa 28</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842816[DISCUI]&test_type=Clinical" ref="ncbi_uid=334614">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334614" target="_blank" href="/omim/607643">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=334614">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=334614" ref="ncbi_uid=334614">V</a></span></span><span class="TLline"><a href="/medgen/334614" ref="tree=GTR&ncbi_uid=334614&link_uid=334614" title="View MedGen record for 'Retinitis pigmentosa 30'">Retinitis pigmentosa 30</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1835923[DISCUI]&test_type=Clinical" ref="ncbi_uid=372159">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=372159" target="_blank" href="/omim/609507">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=372159">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=372159" ref="ncbi_uid=372159">V</a></span></span><span class="TLline"><a href="/medgen/372159" ref="tree=GTR&ncbi_uid=372159&link_uid=372159" title="View MedGen record for 'Retinitis pigmentosa 31'">Retinitis pigmentosa 31</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1835895[DISCUI]&test_type=Clinical" ref="ncbi_uid=332080">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=332080" target="_blank" href="/omim/601664">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=332080">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=332080" ref="ncbi_uid=332080">V</a></span></span><span class="TLline"><a href="/medgen/332080" ref="tree=GTR&ncbi_uid=332080&link_uid=332080" title="View MedGen record for 'Retinitis pigmentosa 33'">Retinitis pigmentosa 33</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853214[DISCUI]&test_type=Clinical" ref="ncbi_uid=339931">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339931" target="_blank" href="/omim/607292">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=339931">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339931" ref="ncbi_uid=339931">V</a></span></span><span class="TLline"><a href="/medgen/339931" ref="tree=GTR&ncbi_uid=339931&link_uid=339931" title="View MedGen record for 'Retinitis pigmentosa 35'">Retinitis pigmentosa 35</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864621[DISCUI]&test_type=Clinical" ref="ncbi_uid=351175">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=351175" target="_blank" href="/omim/610598">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=351175">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=351175" ref="ncbi_uid=351175">V</a></span></span><span class="TLline"><a href="/medgen/351175" ref="tree=GTR&ncbi_uid=351175&link_uid=351175" title="View MedGen record for 'Retinitis pigmentosa 36'">Retinitis pigmentosa 36</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1970163[DISCUI]&test_type=Clinical" ref="ncbi_uid=410004">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=410004" target="_blank" href="/omim/604485">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=410004">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=410004" ref="ncbi_uid=410004">V</a></span></span><span class="TLline"><a href="/medgen/410004" ref="tree=GTR&ncbi_uid=410004&link_uid=410004" title="View MedGen record for 'Retinitis pigmentosa 37'">Retinitis pigmentosa 37</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151228[DISCUI]&test_type=Clinical" ref="ncbi_uid=462578">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462578" target="_blank" href="/omim/604705">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462578">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462578" ref="ncbi_uid=462578">V</a></span></span><span class="TLline"><a href="/medgen/462578" ref="tree=GTR&ncbi_uid=462578&link_uid=462578" title="View MedGen record for 'Retinitis pigmentosa 38'">Retinitis pigmentosa 38</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151138[DISCUI]&test_type=Clinical" ref="ncbi_uid=462488">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462488" target="_blank" href="/omim/608400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462488">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462488" ref="ncbi_uid=462488">V</a></span></span><span class="TLline"><a href="/medgen/462488" ref="tree=GTR&ncbi_uid=462488&link_uid=462488" title="View MedGen record for 'Retinitis pigmentosa 39'">Retinitis pigmentosa 39</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151107[DISCUI]&test_type=Clinical" ref="ncbi_uid=462457">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462457" target="_blank" href="/omim/180072">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462457">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462457" ref="ncbi_uid=462457">V</a></span></span><span class="TLline"><a href="/medgen/462457" ref="tree=GTR&ncbi_uid=462457&link_uid=462457" title="View MedGen record for 'Retinitis pigmentosa 40'">Retinitis pigmentosa 40</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2677516[DISCUI]&test_type=Clinical" ref="ncbi_uid=383126">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=383126" target="_blank" href="/omim/604365">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=383126">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=383126" ref="ncbi_uid=383126">V</a></span></span><span class="TLline"><a href="/medgen/383126" ref="tree=GTR&ncbi_uid=383126&link_uid=383126" title="View MedGen record for 'Retinitis pigmentosa 41'">Retinitis pigmentosa 41</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751986[DISCUI]&test_type=Clinical" ref="ncbi_uid=442864">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=442864" target="_blank" href="/omim/611119">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=442864">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=442864" ref="ncbi_uid=442864">V</a></span></span><span class="TLline"><a href="/medgen/442864" ref="tree=GTR&ncbi_uid=442864&link_uid=442864" title="View MedGen record for 'Retinitis pigmentosa 42'">Retinitis pigmentosa 42</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151139[DISCUI]&test_type=Clinical" ref="ncbi_uid=462489">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462489" target="_blank" href="/omim/180071">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462489">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462489" ref="ncbi_uid=462489">V</a></span></span><span class="TLline"><a href="/medgen/462489" ref="tree=GTR&ncbi_uid=462489&link_uid=462489" title="View MedGen record for 'Retinitis pigmentosa 43'">Retinitis pigmentosa 43</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151068[DISCUI]&test_type=Clinical" ref="ncbi_uid=462418">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462418" target="_blank" href="/omim/600342">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462418">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462418" ref="ncbi_uid=462418">V</a></span></span><span class="TLline"><a href="/medgen/462418" ref="tree=GTR&ncbi_uid=462418&link_uid=462418" title="View MedGen record for 'Retinitis pigmentosa 44'">Retinitis pigmentosa 44</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151066[DISCUI]&test_type=Clinical" ref="ncbi_uid=462416">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462416" target="_blank" href="/omim/600724">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462416">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462416" ref="ncbi_uid=462416">V</a></span></span><span class="TLline"><a href="/medgen/462416" ref="tree=GTR&ncbi_uid=462416&link_uid=462416" title="View MedGen record for 'Retinitis pigmentosa 45'">Retinitis pigmentosa 45</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675496[DISCUI]&test_type=Clinical" ref="ncbi_uid=382614">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382614" target="_blank" href="/omim/604526">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=382614">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=382614" ref="ncbi_uid=382614">V</a></span></span><span class="TLline"><a href="/medgen/382614" ref="tree=GTR&ncbi_uid=382614&link_uid=382614" title="View MedGen record for 'Retinitis pigmentosa 46'">Retinitis pigmentosa 46</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151061[DISCUI]&test_type=Clinical" ref="ncbi_uid=462411">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462411" target="_blank" href="/omim/181031">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462411">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462411" ref="ncbi_uid=462411">V</a></span></span><span class="TLline"><a href="/medgen/462411" ref="tree=GTR&ncbi_uid=462411&link_uid=462411" title="View MedGen record for 'Retinitis pigmentosa 47'">Retinitis pigmentosa 47</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151190[DISCUI]&test_type=Clinical" ref="ncbi_uid=462540">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462540" target="_blank" href="/omim/602275">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462540">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462540" ref="ncbi_uid=462540">V</a></span></span><span class="TLline"><a href="/medgen/462540" ref="tree=GTR&ncbi_uid=462540&link_uid=462540" title="View MedGen record for 'Retinitis pigmentosa 48'">Retinitis pigmentosa 48</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750789[DISCUI]&test_type=Clinical" ref="ncbi_uid=442563">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=442563" target="_blank" href="/omim/607854">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=442563">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=442563" ref="ncbi_uid=442563">V</a></span></span><span class="TLline"><a href="/medgen/442563" ref="tree=GTR&ncbi_uid=442563&link_uid=442563" title="View MedGen record for 'Retinitis pigmentosa 50'">Retinitis pigmentosa 50</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150715[DISCUI]&test_type=Clinical" ref="ncbi_uid=462065">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462065" target="_blank" href="/omim/608132">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462065">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462065" ref="ncbi_uid=462065">V</a></span></span><span class="TLline"><a href="/medgen/462065" ref="tree=GTR&ncbi_uid=462065&link_uid=462065" title="View MedGen record for 'Retinitis pigmentosa 51'">Retinitis pigmentosa 51</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150691[DISCUI]&test_type=Clinical" ref="ncbi_uid=462041">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462041" target="_blank" href="/omim/613425">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462041">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462041" ref="ncbi_uid=462041">V</a></span></span><span class="TLline"><a href="/medgen/462041" ref="tree=GTR&ncbi_uid=462041&link_uid=462041" title="View MedGen record for 'Retinitis pigmentosa 54'">Retinitis pigmentosa 54</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150819[DISCUI]&test_type=Clinical" ref="ncbi_uid=462169">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462169" target="_blank" href="/omim/607056">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462169">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462169" ref="ncbi_uid=462169">V</a></span></span><span class="TLline"><a href="/medgen/462169" ref="tree=GTR&ncbi_uid=462169&link_uid=462169" title="View MedGen record for 'Retinitis pigmentosa 56'">Retinitis pigmentosa 56</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150879[DISCUI]&test_type=Clinical" ref="ncbi_uid=462229">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462229" target="_blank" href="/omim/613598">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462229">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462229" ref="ncbi_uid=462229">V</a></span></span><span class="TLline"><a href="/medgen/462229" ref="tree=GTR&ncbi_uid=462229&link_uid=462229" title="View MedGen record for 'Retinitis pigmentosa 58'">Retinitis pigmentosa 58</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151227[DISCUI]&test_type=Clinical" ref="ncbi_uid=462577">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462577" target="_blank" href="/omim/608172">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462577">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462577" ref="ncbi_uid=462577">V</a></span></span><span class="TLline"><a href="/medgen/462577" ref="tree=GTR&ncbi_uid=462577&link_uid=462577" title="View MedGen record for 'Retinitis pigmentosa 59'">Retinitis pigmentosa 59</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151434[DISCUI]&test_type=Clinical" ref="ncbi_uid=462784">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462784" target="_blank" href="/omim/613979">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462784">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462784" ref="ncbi_uid=462784">V</a></span></span><span class="TLline"><a href="/medgen/462784" ref="tree=GTR&ncbi_uid=462784&link_uid=462784" title="View MedGen record for 'Retinitis pigmentosa 60'">Retinitis pigmentosa 60</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280042[DISCUI]&test_type=Clinical" ref="ncbi_uid=481672">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481672" target="_blank" href="/omim/154235">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=481672">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481672" ref="ncbi_uid=481672">V</a></span></span><span class="TLline"><a href="/medgen/481672" ref="tree=GTR&ncbi_uid=481672&link_uid=481672" title="View MedGen record for 'Retinitis pigmentosa 62'">Retinitis pigmentosa 62</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3281046[DISCUI]&test_type=Clinical" ref="ncbi_uid=482676">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=482676" target="_blank" href="/omim/614477">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=482676" ref="ncbi_uid=482676">V</a></span></span><span class="TLline"><a href="/medgen/482676" ref="tree=GTR&ncbi_uid=482676&link_uid=482676" title="View MedGen record for 'Retinitis pigmentosa 64'">Retinitis pigmentosa 64</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3552852[DISCUI]&test_type=Clinical" ref="ncbi_uid=765766">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=765766" target="_blank" href="/omim/609502">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=765766" ref="ncbi_uid=765766">V</a></span></span><span class="TLline"><a href="/medgen/765766" ref="tree=GTR&ncbi_uid=765766&link_uid=765766" title="View MedGen record for 'Retinitis pigmentosa 65'">Retinitis pigmentosa 65</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3715216[DISCUI]&test_type=Clinical" ref="ncbi_uid=811638">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=811638" target="_blank" href="/omim/180290">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=811638" ref="ncbi_uid=811638">V</a></span></span><span class="TLline"><a href="/medgen/811638" ref="tree=GTR&ncbi_uid=811638&link_uid=811638" title="View MedGen record for 'Retinitis pigmentosa 66'">Retinitis pigmentosa 66</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3809954[DISCUI]&test_type=Clinical" ref="ncbi_uid=816284">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816284" target="_blank" href="/omim/604043">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816284" ref="ncbi_uid=816284">V</a></span></span><span class="TLline"><a href="/medgen/816284" ref="tree=GTR&ncbi_uid=816284&link_uid=816284" title="View MedGen record for 'Retinitis pigmentosa 67'">Retinitis pigmentosa 67</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3810380[DISCUI]&test_type=Clinical" ref="ncbi_uid=816710">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816710" target="_blank" href="/omim/615720">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816710" ref="ncbi_uid=816710">V</a></span></span><span class="TLline"><a href="/medgen/816710" ref="tree=GTR&ncbi_uid=816710&link_uid=816710" title="View MedGen record for 'Retinitis pigmentosa 68'">Retinitis pigmentosa 68</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4014312[DISCUI]&test_type=Clinical" ref="ncbi_uid=862749">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=862749" target="_blank" href="/omim/615757">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=862749" ref="ncbi_uid=862749">V</a></span></span><span class="TLline"><a href="/medgen/862749" ref="tree=GTR&ncbi_uid=862749&link_uid=862749" title="View MedGen record for 'Retinitis pigmentosa 69'">Retinitis pigmentosa 69</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4014681[DISCUI]&test_type=Clinical" ref="ncbi_uid=863118">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=863118" target="_blank" href="/omim/607795">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=863118" ref="ncbi_uid=863118">V</a></span></span><span class="TLline"><a href="/medgen/863118" ref="tree=GTR&ncbi_uid=863118&link_uid=863118" title="View MedGen record for 'Retinitis pigmentosa 70'">Retinitis pigmentosa 70</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/5092" ref="tree=MeSH" title="MedGen record for Disorder of eye">Disorder of eye</a></span><ul><li><span class="TLline"><a href="/medgen/41933" ref="tree=MeSH" title="MedGen record for Hereditary eye diseases">Hereditary eye diseases</a></span><ul><li><span class="TLline"><a href="/medgen/20551" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa">Retinitis pigmentosa</a></span><ul><li><span class="matched_ds">Retinitis pigmentosa 2</span></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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|
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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>
|
||
<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/32875684">RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fujinami K,
|
||
Liu X,
|
||
Ueno S,
|
||
Mizota A,
|
||
Shinoda K,
|
||
Kuniyoshi K,
|
||
Fujinami-Yokokawa Y,
|
||
Yang L,
|
||
Arno G,
|
||
Pontikos N,
|
||
Kameya S,
|
||
Kominami T,
|
||
Terasaki H,
|
||
Sakuramoto H,
|
||
Nakamura N,
|
||
Kurihara T,
|
||
Tsubota K,
|
||
Miyake Y,
|
||
Yoshiake K,
|
||
Iwata T,
|
||
Tsunoda K;
|
||
Japan Eye Genetics Consortium Study Group</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2020 Sep;184(3):675-693.
|
||
Epub 2020 Sep 1
|
||
doi: 10.1002/ajmg.c.31830.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32875684" target="_blank">32875684</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27768226">Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parmeggiani F,
|
||
Barbaro V,
|
||
Migliorati A,
|
||
Raffa P,
|
||
Nespeca P,
|
||
De Nadai K,
|
||
Del Vecchio C,
|
||
Palù G,
|
||
Parolin C,
|
||
Di Iorio E</span><br />
|
||
<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
2017 Mar 10;27(2):240-248.
|
||
Epub 2016 Oct 21
|
||
doi: 10.5301/ejo.5000879.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27768226" target="_blank">27768226</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10520237">Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenberg T,
|
||
Schwahn U,
|
||
Feil S,
|
||
Berger W</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
1999 Sep;20(3):161-72.
|
||
doi: 10.1076/opge.20.3.161.2278.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10520237" target="_blank">10520237</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22retinitis%20pigmentosa%202%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 (3)</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/37864132">Prevalence of inherited retinal diseases in a large Egyptian cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tawfik CA,
|
||
Roshdy MM,
|
||
Morris NM</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2023 Oct 20;23(1):422.
|
||
doi: 10.1186/s12886-023-03163-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37864132" target="_blank">37864132</a><a href="/pmc/articles/PMC10588215" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30098699">Skewed X-chromosome inactivation and shorter telomeres associate with idiopathic premature ovarian insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miranda-Furtado CL,
|
||
Luchiari HR,
|
||
Chielli Pedroso DC,
|
||
Kogure GS,
|
||
Caetano LC,
|
||
Santana BA,
|
||
Santana VP,
|
||
Benetti-Pinto CL,
|
||
Reis FM,
|
||
Maciel MA,
|
||
Ferriani RA,
|
||
Ramos ES,
|
||
Calado RT,
|
||
Dos Reis RM</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
2018 Aug;110(3):476-485.e1.
|
||
doi: 10.1016/j.fertnstert.2018.04.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30098699" target="_blank">30098699</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23372056">Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Churchill JD,
|
||
Bowne SJ,
|
||
Sullivan LS,
|
||
Lewis RA,
|
||
Wheaton DK,
|
||
Birch DG,
|
||
Branham KE,
|
||
Heckenlively JR,
|
||
Daiger SP</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2013 Feb 19;54(2):1411-6.
|
||
doi: 10.1167/iovs.12-11541.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23372056" target="_blank">23372056</a><a href="/pmc/articles/PMC3597192" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22128245">Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Siemiatkowska AM,
|
||
Arimadyo K,
|
||
Moruz LM,
|
||
Astuti GD,
|
||
de Castro-Miro M,
|
||
Zonneveld MN,
|
||
Strom TM,
|
||
de Wijs IJ,
|
||
Hoefsloot LH,
|
||
Faradz SM,
|
||
Cremers FP,
|
||
den Hollander AI,
|
||
Collin RW</span><br />
|
||
<span class="medgenPMjournal">Mol Vis</span>
|
||
2011;17:3013-24.
|
||
Epub 2011 Nov 18
|
||
<span class="bold">PMID: </span><a href="/pubmed/22128245" target="_blank">22128245</a><a href="/pmc/articles/PMC3224842" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21285245">Localization of retinitis pigmentosa 2 to cilia is regulated by Importin beta2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hurd TW,
|
||
Fan S,
|
||
Margolis BL</span><br />
|
||
<span class="medgenPMjournal">J Cell Sci</span>
|
||
2011 Mar 1;124(Pt 5):718-26.
|
||
Epub 2011 Feb 1
|
||
doi: 10.1242/jcs.070839.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21285245" target="_blank">21285245</a><a href="/pmc/articles/PMC3039017" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%202%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 (9)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37864132">Prevalence of inherited retinal diseases in a large Egyptian cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tawfik CA,
|
||
Roshdy MM,
|
||
Morris NM</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2023 Oct 20;23(1):422.
|
||
doi: 10.1186/s12886-023-03163-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37864132" target="_blank">37864132</a><a href="/pmc/articles/PMC10588215" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30098699">Skewed X-chromosome inactivation and shorter telomeres associate with idiopathic premature ovarian insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miranda-Furtado CL,
|
||
Luchiari HR,
|
||
Chielli Pedroso DC,
|
||
Kogure GS,
|
||
Caetano LC,
|
||
Santana BA,
|
||
Santana VP,
|
||
Benetti-Pinto CL,
|
||
Reis FM,
|
||
Maciel MA,
|
||
Ferriani RA,
|
||
Ramos ES,
|
||
Calado RT,
|
||
Dos Reis RM</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
2018 Aug;110(3):476-485.e1.
|
||
doi: 10.1016/j.fertnstert.2018.04.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30098699" target="_blank">30098699</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27768226">Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parmeggiani F,
|
||
Barbaro V,
|
||
Migliorati A,
|
||
Raffa P,
|
||
Nespeca P,
|
||
De Nadai K,
|
||
Del Vecchio C,
|
||
Palù G,
|
||
Parolin C,
|
||
Di Iorio E</span><br />
|
||
<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
2017 Mar 10;27(2):240-248.
|
||
Epub 2016 Oct 21
|
||
doi: 10.5301/ejo.5000879.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27768226" target="_blank">27768226</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25078280">5meCpG epigenetic marks neighboring a primate-conserved core promoter short tandem repeat indicate X-chromosome inactivation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Machado FB,
|
||
Machado FB,
|
||
Faria MA,
|
||
Lovatel VL,
|
||
Alves da Silva AF,
|
||
Radic CP,
|
||
De Brasi CD,
|
||
Rios ÁF,
|
||
de Sousa Lopes SM,
|
||
da Silveira LS,
|
||
Ruiz-Miranda CR,
|
||
Ramos ES,
|
||
Medina-Acosta E</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2014;9(7):e103714.
|
||
Epub 2014 Jul 31
|
||
doi: 10.1371/journal.pone.0103714.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25078280" target="_blank">25078280</a><a href="/pmc/articles/PMC4117532" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23372056">Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Churchill JD,
|
||
Bowne SJ,
|
||
Sullivan LS,
|
||
Lewis RA,
|
||
Wheaton DK,
|
||
Birch DG,
|
||
Branham KE,
|
||
Heckenlively JR,
|
||
Daiger SP</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2013 Feb 19;54(2):1411-6.
|
||
doi: 10.1167/iovs.12-11541.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23372056" target="_blank">23372056</a><a href="/pmc/articles/PMC3597192" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%202%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 (9)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37602882">Identified RP2 as a prognostic biomarker for glioma, facilitating glioma pathogenesis mainly via regulating tumor immunity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gong Y,
|
||
Ke Y,
|
||
Yu Z,
|
||
Pan J,
|
||
Zhou X,
|
||
Jiang Y,
|
||
Zhou M,
|
||
Zeng H,
|
||
Geng X,
|
||
Hu G</span><br />
|
||
<span class="medgenPMjournal">Aging (Albany NY)</span>
|
||
2023 Aug 18;15(16):8155-8184.
|
||
doi: 10.18632/aging.204962.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37602882" target="_blank">37602882</a><a href="/pmc/articles/PMC10497014" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9697692">Positional cloning of the gene for X-linked retinitis pigmentosa 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwahn U,
|
||
Lenzner S,
|
||
Dong J,
|
||
Feil S,
|
||
Hinzmann B,
|
||
van Duijnhoven G,
|
||
Kirschner R,
|
||
Hemberger M,
|
||
Bergen AA,
|
||
Rosenberg T,
|
||
Pinckers AJ,
|
||
Fundele R,
|
||
Rosenthal A,
|
||
Cremers FP,
|
||
Ropers HH,
|
||
Berger W</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
1998 Aug;19(4):327-32.
|
||
doi: 10.1038/1214.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9697692" target="_blank">9697692</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9344658">Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fisher SE,
|
||
Ciccodicola A,
|
||
Tanaka K,
|
||
Curci A,
|
||
Desicato S,
|
||
D'urso M,
|
||
Craig IW</span><br />
|
||
<span class="medgenPMjournal">Genomics</span>
|
||
1997 Oct 15;45(2):340-7.
|
||
doi: 10.1006/geno.1997.4941.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9344658" target="_blank">9344658</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8225316">X-inactivation pattern in carriers of X-linked retinitis pigmentosa: a valuable means of prognostic evaluation?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friedrich U,
|
||
Warburg M,
|
||
Jørgensen AL</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
1993 Oct;92(4):359-63.
|
||
doi: 10.1007/BF01247335.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8225316" target="_blank">8225316</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%202%22%20AND%20Prognosis%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30098699">Skewed X-chromosome inactivation and shorter telomeres associate with idiopathic premature ovarian insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miranda-Furtado CL,
|
||
Luchiari HR,
|
||
Chielli Pedroso DC,
|
||
Kogure GS,
|
||
Caetano LC,
|
||
Santana BA,
|
||
Santana VP,
|
||
Benetti-Pinto CL,
|
||
Reis FM,
|
||
Maciel MA,
|
||
Ferriani RA,
|
||
Ramos ES,
|
||
Calado RT,
|
||
Dos Reis RM</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
2018 Aug;110(3):476-485.e1.
|
||
doi: 10.1016/j.fertnstert.2018.04.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30098699" target="_blank">30098699</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27995965">Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parmeggiani F,
|
||
Barbaro V,
|
||
De Nadai K,
|
||
Lavezzo E,
|
||
Toppo S,
|
||
Chizzolini M,
|
||
Palù G,
|
||
Parolin C,
|
||
Di Iorio E</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2016 Dec 20;6:39179.
|
||
doi: 10.1038/srep39179.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27995965" target="_blank">27995965</a><a href="/pmc/articles/PMC5171904" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26383048">Loss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li L,
|
||
Rao KN,
|
||
Zheng-Le Y,
|
||
Hurd TW,
|
||
Lillo C,
|
||
Khanna H</span><br />
|
||
<span class="medgenPMjournal">Cytoskeleton (Hoboken)</span>
|
||
2015 Sep;72(9):447-54.
|
||
Epub 2015 Oct 14
|
||
doi: 10.1002/cm.21255.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26383048" target="_blank">26383048</a><a href="/pmc/articles/PMC4715527" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26358772">Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mookherjee S,
|
||
Hiriyanna S,
|
||
Kaneshiro K,
|
||
Li L,
|
||
Li Y,
|
||
Li W,
|
||
Qian H,
|
||
Li T,
|
||
Khanna H,
|
||
Colosi P,
|
||
Swaroop A,
|
||
Wu Z</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2015 Nov 15;24(22):6446-58.
|
||
Epub 2015 Sep 10
|
||
doi: 10.1093/hmg/ddv354.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26358772" target="_blank">26358772</a><a href="/pmc/articles/PMC4626763" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10520237">Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenberg T,
|
||
Schwahn U,
|
||
Feil S,
|
||
Berger W</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
1999 Sep;20(3):161-72.
|
||
doi: 10.1076/opge.20.3.161.2278.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10520237" target="_blank">10520237</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%202%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 (9)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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||
</div>
|
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<div class=" bottom">
|
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||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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</div>
|
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|
||
<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2681923%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (20)</a></li>
|
||
<li><a href="/gtr/tests?term=C2681923%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2681923%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2681923%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (23)</a></li>
|
||
<li><a href="/gtr/tests?term=C2681923%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2681923%5bDISCUI%5d" target="_blank">See all (31)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=312600" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Retinitis%20pigmentosa%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=(%22retinitis%20pigmentosa%202%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></ul></div>
|
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|
||
|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=300757" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=6102[geneid]" target="_blank">View RP2 variations in ClinVar</a></li><li><a href="/nuccore/216548404" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=312600" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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</div>
|
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|
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|
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Retinitis+pigmentosa+2%2C+x+linked/6258" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/retinitis_pigmentosa_2_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Retinitis%20pigmentosa%202" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10380/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
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|
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|
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<li>
|
||
<a href="/pubmed/20301590" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
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|
||
<li>
|
||
<a href="/pubmed/clinical?term=Retinitis%20pigmentosa%202" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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|
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<a href="/pubmed?term=Retinitis%20pigmentosa%202%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
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|
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|
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|
||
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|
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|
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<!-- MedGen supplemental column ends here -->
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=394544" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=394544" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=394544" ref="log$=recordlinks">PubMed (OMIM)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc4c71b15b832ebca2ef93">Retinitis pigmentosa 2</a>
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<div class="ralinkpop offscreen_noflow">C1866422[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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