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<!--
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UID=868526
|
||
ConceptID=C4022925
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal eye morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868526</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.">C4022925</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Abnormal eye structure; Abnormality of the globe; Abnormally shaped eye</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0012372">HP:0012372</a></td></tr>
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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>
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<div class="portlet_content ln">A structural anomaly of the globe of the eye, or bulbus oculi. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<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>
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<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="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Abnormal eye morphology</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1370071" ref="tree=MeSH" title="MedGen record for Abnormality of the eye">Abnormality of the eye</a></span><ul><li><span class="matched_ds">Abnormal eye morphology</span><ul><li><span class="TLline"><a href="/medgen/870894" ref="tree=MeSH" title="MedGen record for Abnormal anterior eye segment morphology">Abnormal anterior eye segment morphology</a></span><ul><li><span class="TLline"><a href="/medgen/463532" ref="tree=MeSH" title="MedGen record for Abnormal anterior chamber morphology">Abnormal anterior chamber morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868420" ref="tree=MeSH" title="MedGen record for Abnormal trabecular meshwork morphology">Abnormal trabecular meshwork morphology</a></span></li><li><span class="TLline"><a href="/medgen/82862" ref="tree=MeSH" title="MedGen record for Absent anterior chamber of the eye">Absent anterior chamber of the eye</a></span></li><li><span class="TLline"><a href="/medgen/602221" ref="tree=MeSH" title="MedGen record for Anterior chamber cells">Anterior chamber cells</a></span></li><li><span class="TLline"><a href="/medgen/543182" ref="tree=MeSH" title="MedGen record for Anterior chamber cyst">Anterior chamber cyst</a></span></li><li><span class="TLline"><a href="/medgen/602220" ref="tree=MeSH" title="MedGen record for Anterior chamber flare">Anterior chamber flare</a></span></li><li><span class="TLline"><a href="/medgen/1636773" ref="tree=MeSH" title="MedGen record for Anterior chamber inflammatory cells">Anterior chamber inflammatory cells</a></span></li><li><span class="TLline"><a href="/medgen/1641372" ref="tree=MeSH" title="MedGen record for Anterior chamber red blood cells">Anterior chamber red blood cells</a></span></li><li><span class="TLline"><a href="/medgen/870344" ref="tree=MeSH" title="MedGen record for Anterior chamber synechiae">Anterior chamber synechiae</a></span></li><li><span class="TLline"><a href="/medgen/868923" ref="tree=MeSH" title="MedGen record for Corneolenticular adhesion">Corneolenticular adhesion</a></span></li><li><span class="TLline"><a href="/medgen/602219" ref="tree=MeSH" title="MedGen record for Deep anterior chamber">Deep anterior chamber</a></span></li><li><span class="TLline"><a href="/medgen/43802" ref="tree=MeSH" title="MedGen record for Hypopyon">Hypopyon</a></span></li><li><span class="TLline"><a href="/medgen/602215" ref="tree=MeSH" title="MedGen record for Shallow anterior chamber">Shallow anterior chamber</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/383737" ref="tree=MeSH" title="MedGen record for Abnormal cornea morphology">Abnormal cornea morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868921" ref="tree=MeSH" title="MedGen record for Abnormal corneal endothelium morphology">Abnormal corneal endothelium morphology</a></span></li><li><span class="TLline"><a href="/medgen/868915" ref="tree=MeSH" title="MedGen record for Abnormal corneal epithelium morphology">Abnormal corneal epithelium morphology</a></span></li><li><span class="TLline"><a href="/medgen/1369814" ref="tree=MeSH" title="MedGen record for Abnormal corneal limbus morphology">Abnormal corneal limbus morphology</a></span></li><li><span class="TLline"><a href="/medgen/868917" ref="tree=MeSH" title="MedGen record for Abnormal corneal stroma morphology">Abnormal corneal stroma morphology</a></span></li><li><span class="TLline"><a href="/medgen/868922" ref="tree=MeSH" title="MedGen record for Abnormal corneal thickness">Abnormal corneal thickness</a></span></li><li><span class="TLline"><a href="/medgen/867477" ref="tree=MeSH" title="MedGen record for Abnormal line of Schwalbe morphology">Abnormal line of Schwalbe morphology</a></span></li><li><span class="TLline"><a href="/medgen/868109" ref="tree=MeSH" title="MedGen record for Abnormality of corneal shape">Abnormality of corneal shape</a></span></li><li><span class="TLline"><a href="/medgen/871314" ref="tree=MeSH" title="MedGen record for Abnormality of corneal size">Abnormality of corneal size</a></span></li><li><span class="TLline"><a href="/medgen/867609" ref="tree=MeSH" title="MedGen record for Abnormality of the curvature of the cornea">Abnormality of the curvature of the cornea</a></span></li><li><span class="TLline"><a href="/medgen/739559" ref="tree=MeSH" title="MedGen record for Cornea verticillata">Cornea verticillata</a></span></li><li><span class="TLline"><a href="/medgen/56352" ref="tree=MeSH" title="MedGen record for Corneal degeneration">Corneal degeneration</a></span></li><li><span class="TLline"><a href="/medgen/3619" ref="tree=MeSH" title="MedGen record for Corneal dystrophy">Corneal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/43103" ref="tree=MeSH" title="MedGen record for Corneal neovascularization">Corneal neovascularization</a></span></li><li><span class="TLline"><a href="/medgen/40485" ref="tree=MeSH" title="MedGen record for Corneal opacity">Corneal opacity</a></span></li><li><span class="TLline"><a href="/medgen/137914" ref="tree=MeSH" title="MedGen record for Corneal perforation">Corneal perforation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892382" ref="tree=MeSH" title="MedGen record for Abnormal lens morphology">Abnormal lens morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868903" ref="tree=MeSH" title="MedGen record for Abnormality of lens shape">Abnormality of lens shape</a></span></li><li><span class="TLline"><a href="/medgen/39462" ref="tree=MeSH" title="MedGen record for Cataract">Cataract</a></span></li><li><span class="TLline"><a href="/medgen/41704" ref="tree=MeSH" title="MedGen record for Ectopia lentis">Ectopia lentis</a></span></li><li><span class="TLline"><a href="/medgen/754414" ref="tree=MeSH" title="MedGen record for Phakodonesis">Phakodonesis</a></span></li><li><span class="TLline"><a href="/medgen/146336" ref="tree=MeSH" title="MedGen record for Pseudophakia">Pseudophakia</a></span></li><li><span class="TLline"><a href="/medgen/1863633" ref="tree=MeSH" title="MedGen record for Spontaneous lens capsule rupture">Spontaneous lens capsule rupture</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866730" ref="tree=MeSH" title="MedGen record for Abnormal suspensory ligament of lens morphology">Abnormal suspensory ligament of lens morphology</a></span></li><li><span class="TLline"><a href="/medgen/871351" ref="tree=MeSH" title="MedGen record for Abnormality iris morphology">Abnormality iris morphology</a></span><ul><li><span class="TLline"><a href="/medgen/331733" ref="tree=MeSH" title="MedGen record for Abnormal iris pigmentation">Abnormal iris pigmentation</a></span></li><li><span class="TLline"><a href="/medgen/450993" ref="tree=MeSH" title="MedGen record for Abnormal pupil morphology">Abnormal pupil morphology</a></span></li><li><span class="TLline"><a href="/medgen/451052" ref="tree=MeSH" title="MedGen record for Iridodonesis">Iridodonesis</a></span></li><li><span class="TLline"><a href="/medgen/96095" ref="tree=MeSH" title="MedGen record for Iris atrophy">Iris atrophy</a></span></li><li><span class="TLline"><a href="/medgen/124385" ref="tree=MeSH" title="MedGen record for Iris cyst">Iris cyst</a></span></li><li><span class="TLline"><a href="/medgen/1393819" ref="tree=MeSH" title="MedGen record for Iris flocculi">Iris flocculi</a></span></li><li><span class="TLline"><a href="/medgen/83423" ref="tree=MeSH" title="MedGen record for Iris nevus">Iris nevus</a></span></li><li><span class="TLline"><a href="/medgen/603499" ref="tree=MeSH" title="MedGen record for Iris nodule">Iris nodule</a></span></li><li><span class="TLline"><a href="/medgen/7160" ref="tree=MeSH" title="MedGen record for Iritis">Iritis</a></span></li><li><span class="TLline"><a href="/medgen/602252" ref="tree=MeSH" title="MedGen record for Uveal ectropion">Uveal ectropion</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/350766" ref="tree=MeSH" title="MedGen record for Anterior segment dysgenesis">Anterior segment dysgenesis</a></span><ul><li><span class="TLline"><a href="/medgen/1631197" ref="tree=MeSH" title="MedGen record for Anterior segment dysgenesis 1">Anterior segment dysgenesis 1</a></span></li><li><span class="TLline"><a href="/medgen/355748" ref="tree=MeSH" title="MedGen record for Anterior segment dysgenesis 3">Anterior segment dysgenesis 3</a></span></li><li><span class="TLline"><a href="/medgen/330750" ref="tree=MeSH" title="MedGen record for Anterior segment dysgenesis 4">Anterior segment dysgenesis 4</a></span></li><li><span class="TLline"><a href="/medgen/934590" ref="tree=MeSH" title="MedGen record for Anterior segment dysgenesis 6">Anterior segment dysgenesis 6</a></span></li><li><span class="TLline"><a href="/medgen/462967" ref="tree=MeSH" title="MedGen record for Anterior segment dysgenesis 7">Anterior segment dysgenesis 7</a></span></li><li><span class="TLline"><a href="/medgen/934589" ref="tree=MeSH" title="MedGen record for Anterior segment dysgenesis 8">Anterior segment dysgenesis 8</a></span></li><li><span class="TLline"><a href="/medgen/78611" ref="tree=MeSH" title="MedGen record for Axenfeld anomaly">Axenfeld anomaly</a></span></li><li><span class="TLline"><a href="/medgen/339935" ref="tree=MeSH" title="MedGen record for Congenital primary aphakia">Congenital primary aphakia</a></span></li><li><span class="TLline"><a href="/medgen/3202" ref="tree=MeSH" title="MedGen record for Developmental cataract">Developmental cataract</a></span></li><li><span class="TLline"><a href="/medgen/453382" ref="tree=MeSH" title="MedGen record for Glaucoma of childhood">Glaucoma of childhood</a></span></li><li><span class="TLline"><a href="/medgen/91031" ref="tree=MeSH" title="MedGen record for Irido-corneo-trabecular dysgenesis">Irido-corneo-trabecular dysgenesis</a></span></li><li><span class="TLline"><a href="/medgen/1372399" ref="tree=MeSH" title="MedGen record for Microcoria">Microcoria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/295775" ref="tree=MeSH" title="MedGen record for Limbal stem cell deficiency">Limbal stem cell deficiency</a></span></li><li><span class="TLline"><a href="/medgen/868421" ref="tree=MeSH" title="MedGen record for Pseudoexfoliation">Pseudoexfoliation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870893" ref="tree=MeSH" title="MedGen record for Abnormal posterior eye segment morphology">Abnormal posterior eye segment morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871316" ref="tree=MeSH" title="MedGen record for Abnormal fundus morphology">Abnormal fundus morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892839" ref="tree=MeSH" title="MedGen record for Abnormal choroid morphology">Abnormal choroid morphology</a></span></li><li><span class="TLline"><a href="/medgen/472883" ref="tree=MeSH" title="MedGen record for Abnormal optic nerve morphology">Abnormal optic nerve morphology</a></span></li><li><span class="TLline"><a href="/medgen/472885" ref="tree=MeSH" title="MedGen record for Abnormal retinal morphology">Abnormal retinal morphology</a></span></li><li><span class="TLline"><a href="/medgen/1644580" ref="tree=MeSH" title="MedGen record for Abnormality of fundus pigmentation">Abnormality of fundus pigmentation</a></span></li><li><span class="TLline"><a href="/medgen/382226" ref="tree=MeSH" title="MedGen record for Fundus atrophy">Fundus atrophy</a></span></li><li><span class="TLline"><a href="/medgen/1635864" ref="tree=MeSH" title="MedGen record for Fundus hemorrhage">Fundus hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/896050" ref="tree=MeSH" title="MedGen record for Mizuo phenomenon">Mizuo phenomenon</a></span></li><li><span class="TLline"><a href="/medgen/1646377" ref="tree=MeSH" title="MedGen record for Tapetal-like fundal reflex">Tapetal-like fundal reflex</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892543" ref="tree=MeSH" title="MedGen record for Abnormal posterior segment imaging">Abnormal posterior segment imaging</a></span><ul><li><span class="TLline"><a href="/medgen/892746" ref="tree=MeSH" title="MedGen record for Abnormal fundus autofluorescence imaging">Abnormal fundus autofluorescence imaging</a></span></li><li><span class="TLline"><a href="/medgen/892879" ref="tree=MeSH" title="MedGen record for Abnormal fundus fluorescein angiography">Abnormal fundus fluorescein angiography</a></span></li><li><span class="TLline"><a href="/medgen/892676" ref="tree=MeSH" title="MedGen record for Abnormal indocyanine green angiography">Abnormal indocyanine green angiography</a></span></li><li><span class="TLline"><a href="/medgen/850825" ref="tree=MeSH" title="MedGen record for Abnormal optical coherence tomography">Abnormal optical coherence tomography</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870895" ref="tree=MeSH" title="MedGen record for Abnormal vitreous humor morphology">Abnormal vitreous humor morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870340" ref="tree=MeSH" title="MedGen record for Amyloid deposition in the vitreous humor">Amyloid deposition in the vitreous humor</a></span></li><li><span class="TLline"><a href="/medgen/636821" ref="tree=MeSH" title="MedGen record for Asteroid hyalosis">Asteroid hyalosis</a></span></li><li><span class="TLline"><a href="/medgen/75615" ref="tree=MeSH" title="MedGen record for Atrophia bulborum hereditaria">Atrophia bulborum hereditaria</a></span></li><li><span class="TLline"><a href="/medgen/1380244" ref="tree=MeSH" title="MedGen record for Beaded vitreous appearance">Beaded vitreous appearance</a></span></li><li><span class="TLline"><a href="/medgen/1386132" ref="tree=MeSH" title="MedGen record for Membranous vitreous appearance">Membranous vitreous appearance</a></span></li><li><span class="TLline"><a href="/medgen/892643" ref="tree=MeSH" title="MedGen record for Optically empty vitreous">Optically empty vitreous</a></span></li><li><span class="TLline"><a href="/medgen/870367" ref="tree=MeSH" title="MedGen record for Peripheral vitreous opacities">Peripheral vitreous opacities</a></span></li><li><span class="TLline"><a href="/medgen/120583" ref="tree=MeSH" title="MedGen record for Persistent hyperplastic primary vitreous">Persistent hyperplastic primary vitreous</a></span></li><li><span class="TLline"><a href="/medgen/140839" ref="tree=MeSH" title="MedGen record for Posterior vitreous detachment">Posterior vitreous detachment</a></span></li><li><span class="TLline"><a href="/medgen/87480" ref="tree=MeSH" title="MedGen record for Vitreoretinopathy">Vitreoretinopathy</a></span></li><li><span class="TLline"><a href="/medgen/5217" ref="tree=MeSH" title="MedGen record for Vitreous floaters">Vitreous floaters</a></span></li><li><span class="TLline"><a href="/medgen/68620" ref="tree=MeSH" title="MedGen record for Vitritis">Vitritis</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/871347" ref="tree=MeSH" title="MedGen record for Abnormal sclera morphology">Abnormal sclera morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1863491" ref="tree=MeSH" title="MedGen record for Abnormal scleral thickness">Abnormal scleral thickness</a></span><ul><li><span class="TLline"><a href="/medgen/1054890" ref="tree=MeSH" title="MedGen record for Reduced anterior scleral thickness">Reduced anterior scleral thickness</a></span></li><li><span class="TLline"><a href="/medgen/1053781" ref="tree=MeSH" title="MedGen record for Reduced posterior scleral thickness">Reduced posterior scleral thickness</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/154236" ref="tree=MeSH" title="MedGen record for Blue sclerae">Blue sclerae</a></span></li><li><span class="TLline"><a href="/medgen/401267" ref="tree=MeSH" title="MedGen record for Limbal dermoid">Limbal dermoid</a></span></li><li><span class="TLline"><a href="/medgen/507939" ref="tree=MeSH" title="MedGen record for Ocular melanocytosis">Ocular melanocytosis</a></span><ul><li><span class="TLline"><a href="/medgen/1790578" ref="tree=MeSH" title="MedGen record for Racial Melanosis">Racial Melanosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/347969" ref="tree=MeSH" title="MedGen record for Pigmentation of the sclera">Pigmentation of the sclera</a></span><ul><li><span class="TLline"><a href="/medgen/1863845" ref="tree=MeSH" title="MedGen record for Oil-drop brown pigmentation of the corneal limbus">Oil-drop brown pigmentation of the corneal limbus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/573017" ref="tree=MeSH" title="MedGen record for Scleral rupture">Scleral rupture</a></span></li><li><span class="TLline"><a href="/medgen/509933" ref="tree=MeSH" title="MedGen record for Scleral staphyloma">Scleral staphyloma</a></span><ul><li><span class="TLline"><a href="/medgen/573022" ref="tree=MeSH" title="MedGen record for Anterior staphyloma">Anterior staphyloma</a></span></li><li><span class="TLline"><a href="/medgen/509934" ref="tree=MeSH" title="MedGen record for Staphyloma posticum">Staphyloma posticum</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/393147" ref="tree=MeSH" title="MedGen record for Scleral thickening">Scleral thickening</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871348" ref="tree=MeSH" title="MedGen record for Abnormal uvea morphology">Abnormal uvea morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868332" ref="tree=MeSH" title="MedGen record for Abnormal ciliary body morphology">Abnormal ciliary body morphology</a></span><ul><li><span class="TLline"><a href="/medgen/138062" ref="tree=MeSH" title="MedGen record for Ciliary body melanoma">Ciliary body melanoma</a></span></li><li><span class="TLline"><a href="/medgen/324630" ref="tree=MeSH" title="MedGen record for Hypoplasia of the ciliary body">Hypoplasia of the ciliary body</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/867563" ref="tree=MeSH" title="MedGen record for Abnormality of globe location">Abnormality of globe location</a></span><ul><li><span class="TLline"><a href="/medgen/473112" ref="tree=MeSH" title="MedGen record for Deeply set eye">Deeply set eye</a></span></li><li><span class="TLline"><a href="/medgen/78617" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 1">Holoprosencephaly 1</a></span></li><li><span class="TLline"><a href="/medgen/9373" ref="tree=MeSH" title="MedGen record for Hypertelorism">Hypertelorism</a></span></li><li><span class="TLline"><a href="/medgen/96107" ref="tree=MeSH" title="MedGen record for Hypotelorism">Hypotelorism</a></span></li><li><span class="TLline"><a href="/medgen/41917" ref="tree=MeSH" title="MedGen record for Proptosis">Proptosis</a></span><ul><li><span class="TLline"><a href="/medgen/6677" ref="tree=MeSH" title="MedGen record for Graves disease">Graves disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/608999" ref="tree=MeSH" title="MedGen record for Vertical orbital dystopia">Vertical orbital dystopia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867562" ref="tree=MeSH" title="MedGen record for Abnormality of globe size">Abnormality of globe size</a></span><ul><li><span class="TLline"><a href="/medgen/344595" ref="tree=MeSH" title="MedGen record for Abnormally large globe">Abnormally large globe</a></span><ul><li><span class="TLline"><a href="/medgen/1641795" ref="tree=MeSH" title="MedGen record for Buphthalmos">Buphthalmos</a></span></li><li><span class="TLline"><a href="/medgen/320525" ref="tree=MeSH" title="MedGen record for Increased axial length of the globe">Increased axial length of the globe</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/314" ref="tree=MeSH" title="MedGen record for Anophthalmia">Anophthalmia</a></span><ul><li><span class="TLline"><a href="/medgen/768661" ref="tree=MeSH" title="MedGen record for Bilateral anophthalmos of eyes">Bilateral anophthalmos of eyes</a></span></li><li><span class="TLline"><a href="/medgen/436469" ref="tree=MeSH" title="MedGen record for True anophthalmia">True anophthalmia</a></span></li><li><span class="TLline"><a href="/medgen/768662" ref="tree=MeSH" title="MedGen record for Unilateral Anophthalmos">Unilateral Anophthalmos</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10033" ref="tree=MeSH" title="MedGen record for Microphthalmia">Microphthalmia</a></span><ul><li><span class="TLline"><a href="/medgen/334420" ref="tree=MeSH" title="MedGen record for Bilateral microphthalmos">Bilateral microphthalmos</a></span></li><li><span class="TLline"><a href="/medgen/768664" ref="tree=MeSH" title="MedGen record for Unilateral microphthalmos">Unilateral microphthalmos</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/870310" ref="tree=MeSH" title="MedGen record for Abnormality of the vasculature of the eye">Abnormality of the vasculature of the eye</a></span><ul><li><span class="TLline"><a href="/medgen/477594" ref="tree=MeSH" title="MedGen record for Abnormal iris vasculature">Abnormal iris vasculature</a></span><ul><li><span class="TLline"><a href="/medgen/868418" ref="tree=MeSH" title="MedGen record for Iris hypoperfusion">Iris hypoperfusion</a></span></li><li><span class="TLline"><a href="/medgen/488789" ref="tree=MeSH" title="MedGen record for Rubeosis iridis">Rubeosis iridis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870305" ref="tree=MeSH" title="MedGen record for Abnormal morphology of the conjunctival vasculature">Abnormal morphology of the conjunctival vasculature</a></span><ul><li><span class="TLline"><a href="/medgen/1377064" ref="tree=MeSH" title="MedGen record for Saccular conjunctival dilatations">Saccular conjunctival dilatations</a></span></li><li><span class="TLline"><a href="/medgen/344487" ref="tree=MeSH" title="MedGen record for Tortuosity of conjunctival vessels">Tortuosity of conjunctival vessels</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870311" ref="tree=MeSH" title="MedGen record for Abnormal retinal vascular morphology">Abnormal retinal vascular morphology</a></span><ul><li><span class="TLline"><a href="/medgen/479093" ref="tree=MeSH" title="MedGen record for Abnormal distribution of retinal arterioles and venules">Abnormal distribution of retinal arterioles and venules</a></span></li><li><span class="TLline"><a href="/medgen/1056955" ref="tree=MeSH" title="MedGen record for Abnormal retinal vein morphology">Abnormal retinal vein morphology</a></span></li><li><span class="TLline"><a href="/medgen/480605" ref="tree=MeSH" title="MedGen record for Attenuation of retinal blood vessels">Attenuation of retinal blood vessels</a></span></li><li><span class="TLline"><a href="/medgen/101819" ref="tree=MeSH" title="MedGen record for Hypertensive retinopathy">Hypertensive retinopathy</a></span></li><li><span class="TLline"><a href="/medgen/336208" ref="tree=MeSH" title="MedGen record for Increased retinal vascularity">Increased retinal vascularity</a></span></li><li><span class="TLline"><a href="/medgen/137918" ref="tree=MeSH" title="MedGen record for Lipemia retinalis">Lipemia retinalis</a></span></li><li><span class="TLline"><a href="/medgen/338687" ref="tree=MeSH" title="MedGen record for Peripheral retinal avascularization">Peripheral retinal avascularization</a></span></li><li><span class="TLline"><a href="/medgen/472899" ref="tree=MeSH" title="MedGen record for Retinal microaneurysm">Retinal microaneurysm</a></span></li><li><span class="TLline"><a href="/medgen/20550" ref="tree=MeSH" title="MedGen record for Retinal neovascularization">Retinal neovascularization</a></span></li><li><span class="TLline"><a href="/medgen/1056241" ref="tree=MeSH" title="MedGen record for Retinal shunt vessels">Retinal shunt vessels</a></span></li><li><span class="TLline"><a href="/medgen/57598" ref="tree=MeSH" title="MedGen record for Retinal telangiectasia">Retinal telangiectasia</a></span></li><li><span class="TLline"><a href="/medgen/350100" ref="tree=MeSH" title="MedGen record for Retinal vascular malformation">Retinal vascular malformation</a></span></li><li><span class="TLline"><a href="/medgen/1640625" ref="tree=MeSH" title="MedGen record for Retinal vascular proliferation">Retinal vascular proliferation</a></span></li><li><span class="TLline"><a href="/medgen/349827" ref="tree=MeSH" title="MedGen record for Retinal vascular tortuosity">Retinal vascular tortuosity</a></span></li><li><span class="TLline"><a href="/medgen/57503" ref="tree=MeSH" title="MedGen record for Retinal vasculitis">Retinal vasculitis</a></span></li><li><span class="TLline"><a href="/medgen/19763" ref="tree=MeSH" title="MedGen record for Retinal vein occlusion">Retinal vein occlusion</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/68614" ref="tree=MeSH" title="MedGen record for Red eye">Red eye</a></span><ul><li><span class="TLline"><a href="/medgen/315653" ref="tree=MeSH" title="MedGen record for Conjunctival hyperemia">Conjunctival hyperemia</a></span></li><li><span class="TLline"><a href="/medgen/1370720" ref="tree=MeSH" title="MedGen record for Deep episcleral hyperemia">Deep episcleral hyperemia</a></span></li><li><span class="TLline"><a href="/medgen/1368486" ref="tree=MeSH" title="MedGen record for Superficial episcleral hyperemia">Superficial episcleral hyperemia</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/870303" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia affecting the eye">Aplasia/Hypoplasia affecting the eye</a></span><ul><li><span class="TLline"><a href="/medgen/870297" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia affecting the anterior segment of the eye">Aplasia/Hypoplasia affecting the anterior segment of the eye</a></span><ul><li><span class="TLline"><a href="/medgen/377856" ref="tree=MeSH" title="MedGen record for Anterior segment of eye aplasia">Anterior segment of eye aplasia</a></span></li><li><span class="TLline"><a href="/medgen/870306" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the iris">Aplasia/Hypoplasia of the iris</a></span></li><li><span class="TLline"><a href="/medgen/870296" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the lens">Aplasia/Hypoplasia of the lens</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870302" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia affecting the fundus">Aplasia/Hypoplasia affecting the fundus</a></span><ul><li><span class="TLline"><a href="/medgen/870301" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the optic nerve">Aplasia/Hypoplasia of the optic nerve</a></span></li><li><span class="TLline"><a href="/medgen/870298" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the retina">Aplasia/Hypoplasia of the retina</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870304" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia affecting the uvea">Aplasia/Hypoplasia affecting the uvea</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1046" ref="tree=MeSH" title="MedGen record for Congenital ocular coloboma">Congenital ocular coloboma</a></span><ul><li><span class="TLline"><a href="/medgen/75567" ref="tree=MeSH" title="MedGen record for CHARGE syndrome">CHARGE syndrome</a></span></li><li><span class="TLline"><a href="/medgen/66820" ref="tree=MeSH" title="MedGen record for Chorioretinal coloboma">Chorioretinal coloboma</a></span><ul><li><span class="TLline"><a href="/medgen/1641158" ref="tree=MeSH" title="MedGen record for Inferior chorioretinal coloboma">Inferior chorioretinal coloboma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892599" ref="tree=MeSH" title="MedGen record for Ciliary body coloboma">Ciliary body coloboma</a></span></li><li><span class="TLline"><a href="/medgen/57832" ref="tree=MeSH" title="MedGen record for Coloboma of optic nerve">Coloboma of optic nerve</a></span><ul><li><span class="TLline"><a href="/medgen/767635" ref="tree=MeSH" title="MedGen record for Morning glory syndrome">Morning glory syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/116097" ref="tree=MeSH" title="MedGen record for Iris coloboma">Iris coloboma</a></span></li><li><span class="TLline"><a href="/medgen/761889" ref="tree=MeSH" title="MedGen record for Retinal coloboma">Retinal coloboma</a></span><ul><li><span class="TLline"><a href="/medgen/1644340" ref="tree=MeSH" title="MedGen record for Inferior retinal coloboma">Inferior retinal coloboma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66078" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome">Treacher Collins syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/75554" ref="tree=MeSH" title="MedGen record for Craniofacial microsomia">Craniofacial microsomia</a></span></li><li><span class="TLline"><a href="/medgen/994681" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome 1">Treacher Collins syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/462333" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome 2">Treacher Collins syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/340868" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome 3">Treacher Collins syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/1712280" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome 4">Treacher Collins syndrome 4</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/5095" ref="tree=MeSH" title="MedGen record for Neoplasm of the eye">Neoplasm of the eye</a></span><ul><li><span class="TLline"><a href="/medgen/99224" ref="tree=MeSH" title="MedGen record for Benign Eye Neoplasm">Benign Eye Neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/56328" ref="tree=MeSH" title="MedGen record for Benign conjunctival neoplasm">Benign conjunctival neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/137911" ref="tree=MeSH" title="MedGen record for Benign eyelid neoplasm">Benign eyelid neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/1781905" ref="tree=MeSH" title="MedGen record for Benign Lacrimal System Neoplasm">Benign Lacrimal System Neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/57579" ref="tree=MeSH" title="MedGen record for Benign neoplasm of cornea">Benign neoplasm of cornea</a></span></li><li><span class="TLline"><a href="/medgen/57580" ref="tree=MeSH" title="MedGen record for Benign neoplasm of retina">Benign neoplasm of retina</a></span></li><li><span class="TLline"><a href="/medgen/673328" ref="tree=MeSH" title="MedGen record for Benign Uveal Neoplasm">Benign Uveal Neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/1742372" ref="tree=MeSH" title="MedGen record for Eye Melanocytoma">Eye Melanocytoma</a></span></li><li><span class="TLline"><a href="/medgen/457124" ref="tree=MeSH" title="MedGen record for Intraocular Schwannoma">Intraocular Schwannoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3208" ref="tree=MeSH" title="MedGen record for Conjunctival tumor">Conjunctival tumor</a></span><ul><li><span class="TLline"><a href="/medgen/56316" ref="tree=MeSH" title="MedGen record for Conjunctival cancer">Conjunctival cancer</a></span></li><li><span class="TLline"><a href="/medgen/757693" ref="tree=MeSH" title="MedGen record for Conjunctival Melanocytic Intraepithelial Neoplasia">Conjunctival Melanocytic Intraepithelial Neoplasia</a></span></li><li><span class="TLline"><a href="/medgen/1787978" ref="tree=MeSH" title="MedGen record for Ocular surface squamous neoplasia">Ocular surface squamous neoplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/90940" ref="tree=MeSH" title="MedGen record for Cornea neoplasm">Cornea neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/102282" ref="tree=MeSH" title="MedGen record for Cornea cancer">Cornea cancer</a></span></li><li><span class="TLline"><a href="/medgen/232396" ref="tree=MeSH" title="MedGen record for Corneal intraepithelial neoplasm">Corneal intraepithelial neoplasm</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/41939" ref="tree=MeSH" title="MedGen record for Eyelid neoplasm">Eyelid neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/501131" ref="tree=MeSH" title="MedGen record for Eyelid cancer">Eyelid cancer</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869362" ref="tree=MeSH" title="MedGen record for Hamartoma of the eye">Hamartoma of the eye</a></span><ul><li><span class="TLline"><a href="/medgen/867471" ref="tree=MeSH" title="MedGen record for Conjunctival hamartoma">Conjunctival hamartoma</a></span></li><li><span class="TLline"><a href="/medgen/354977" ref="tree=MeSH" title="MedGen record for Retinal hamartoma">Retinal hamartoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/79344" ref="tree=MeSH" title="MedGen record for Intraocular lymphoma">Intraocular lymphoma</a></span><ul><li><span class="TLline"><a href="/medgen/1786099" ref="tree=MeSH" title="MedGen record for Primary Uveal Non-Hodgkin Lymphoma">Primary Uveal Non-Hodgkin Lymphoma</a></span></li><li><span class="TLline"><a href="/medgen/1684330" ref="tree=MeSH" title="MedGen record for Primary Vitreoretinal Non-Hodgkin Lymphoma">Primary Vitreoretinal Non-Hodgkin Lymphoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/272790" ref="tree=MeSH" title="MedGen record for Lacrimal system cancer">Lacrimal system cancer</a></span><ul><li><span class="TLline"><a href="/medgen/738686" ref="tree=MeSH" title="MedGen record for Lacrimal Drainage System Neoplasm">Lacrimal Drainage System Neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/83280" ref="tree=MeSH" title="MedGen record for Lacrimal gland neoplasm">Lacrimal gland neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/1787925" ref="tree=MeSH" title="MedGen record for Malignant Lacrimal System Neoplasm">Malignant Lacrimal System Neoplasm</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/105418" ref="tree=MeSH" title="MedGen record for Ocular cancer">Ocular cancer</a></span><ul><li><span class="TLline"><a href="/medgen/208855" ref="tree=MeSH" title="MedGen record for Eye carcinoma">Eye carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/1788822" ref="tree=MeSH" title="MedGen record for Eye lymphoma">Eye lymphoma</a></span></li><li><span class="TLline"><a href="/medgen/457128" ref="tree=MeSH" title="MedGen record for Intraocular Malignant Peripheral Nerve Sheath Tumor">Intraocular Malignant Peripheral Nerve Sheath Tumor</a></span></li><li><span class="TLline"><a href="/medgen/6192" ref="tree=MeSH" title="MedGen record for Malignant tumor of retina">Malignant tumor of retina</a></span></li><li><span class="TLline"><a href="/medgen/91115" ref="tree=MeSH" title="MedGen record for Metastatic malignant neoplasm in the eye">Metastatic malignant neoplasm in the eye</a></span></li><li><span class="TLline"><a href="/medgen/107846" ref="tree=MeSH" title="MedGen record for Ocular melanoma">Ocular melanoma</a></span></li><li><span class="TLline"><a href="/medgen/1772018" ref="tree=MeSH" title="MedGen record for Uveal cancer">Uveal cancer</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/18190" ref="tree=MeSH" title="MedGen record for Orbit neoplasm">Orbit neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/102304" ref="tree=MeSH" title="MedGen record for Benign Orbit Neoplasm">Benign Orbit Neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/272773" ref="tree=MeSH" title="MedGen record for Intraorbital meningioma">Intraorbital meningioma</a></span></li><li><span class="TLline"><a href="/medgen/235409" ref="tree=MeSH" title="MedGen record for Orbit Paraganglioma">Orbit Paraganglioma</a></span></li><li><span class="TLline"><a href="/medgen/56314" ref="tree=MeSH" title="MedGen record for Orbital cancer">Orbital cancer</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1641875" ref="tree=MeSH" title="MedGen record for Orbital schwannoma">Orbital schwannoma</a></span></li><li><span class="TLline"><a href="/medgen/465285" ref="tree=MeSH" title="MedGen record for Paraneoplastic Syndromes, Ocular">Paraneoplastic Syndromes, Ocular</a></span></li><li><span class="TLline"><a href="/medgen/101180" ref="tree=MeSH" title="MedGen record for Retina neoplasm">Retina neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/137924" ref="tree=MeSH" title="MedGen record for Retinal astrocytic hamartoma">Retinal astrocytic hamartoma</a></span></li><li><span class="TLline"><a href="/medgen/152677" ref="tree=MeSH" title="MedGen record for Retinal capillary hemangioma">Retinal capillary hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/277595" ref="tree=MeSH" title="MedGen record for Retinal cell neoplasm">Retinal cell neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/20552" ref="tree=MeSH" title="MedGen record for Retinoblastoma">Retinoblastoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867999" ref="tree=MeSH" title="MedGen record for Scleral schwannoma">Scleral schwannoma</a></span></li><li><span class="TLline"><a href="/medgen/52960" ref="tree=MeSH" title="MedGen record for Uvea neoplasm">Uvea neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/3059" ref="tree=MeSH" title="MedGen record for Choroid neoplasm">Choroid neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/137916" ref="tree=MeSH" title="MedGen record for Ciliary body neoplasm">Ciliary body neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/7159" ref="tree=MeSH" title="MedGen record for Iris neoplasm">Iris neoplasm</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/65077" ref="tree=MeSH" title="MedGen record for Uveal melanoma">Uveal melanoma</a></span><ul><li><span class="TLline"><a href="/medgen/1643389" ref="tree=MeSH" title="MedGen record for Choroidal and Ciliary Body Melanoma by AJCC v8 Stage">Choroidal and Ciliary Body Melanoma by AJCC v8 Stage</a></span></li><li><span class="TLline"><a href="/medgen/138064" ref="tree=MeSH" title="MedGen record for Choroidal melanoma">Choroidal melanoma</a></span></li><li><span class="TLline"><a href="/medgen/234223" ref="tree=MeSH" title="MedGen record for Epithelioid cell uveal melanoma">Epithelioid cell uveal melanoma</a></span></li><li><span class="TLline"><a href="/medgen/76016" ref="tree=MeSH" title="MedGen record for Intermediate cell type uveal melanoma">Intermediate cell type uveal melanoma</a></span></li><li><span class="TLline"><a href="/medgen/87559" ref="tree=MeSH" title="MedGen record for Iris melanoma">Iris melanoma</a></span></li><li><span class="TLline"><a href="/medgen/124525" ref="tree=MeSH" title="MedGen record for Medium/large size posterior uveal melanoma">Medium/large size posterior uveal melanoma</a></span></li><li><span class="TLline"><a href="/medgen/1649122" ref="tree=MeSH" title="MedGen record for Metastatic Uveal Melanoma">Metastatic Uveal Melanoma</a></span></li><li><span class="TLline"><a href="/medgen/235330" ref="tree=MeSH" title="MedGen record for Mixed cell uveal melanoma">Mixed cell uveal melanoma</a></span></li><li><span class="TLline"><a href="/medgen/1669717" ref="tree=MeSH" title="MedGen record for Necrotic uveal melanoma">Necrotic uveal melanoma</a></span></li><li><span class="TLline"><a href="/medgen/75885" ref="tree=MeSH" title="MedGen record for Recurrent Uveal Melanoma">Recurrent Uveal Melanoma</a></span></li><li><span class="TLline"><a href="/medgen/1771214" ref="tree=MeSH" title="MedGen record for Refractory Uveal Melanoma">Refractory Uveal Melanoma</a></span></li><li><span class="TLline"><a href="/medgen/75883" ref="tree=MeSH" title="MedGen record for Small size posterior uveal melanoma">Small size posterior uveal melanoma</a></span></li><li><span class="TLline"><a href="/medgen/76015" ref="tree=MeSH" title="MedGen record for Spindle cell intraocular melanoma">Spindle cell intraocular melanoma</a></span></li><li><span class="TLline"><a href="/medgen/1726417" ref="tree=MeSH" title="MedGen record for Unresectable Uveal Melanoma">Unresectable Uveal Melanoma</a></span></li><li><span class="TLline"><a href="/medgen/1631926" ref="tree=MeSH" title="MedGen record for Uveal Melanoma by AJCC v7 Stage">Uveal Melanoma by AJCC v7 Stage</a></span></li><li><span class="TLline"><a href="/medgen/819941" ref="tree=MeSH" title="MedGen record for Uveal Melanoma by Gene Expression Profile">Uveal Melanoma by Gene Expression Profile</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1054823" ref="tree=MeSH" title="MedGen record for Ocular cystine crystal deposition">Ocular cystine crystal deposition</a></span></li><li><span class="TLline"><a href="/medgen/124382" ref="tree=MeSH" title="MedGen record for Phthisis bulbi">Phthisis bulbi</a></span></li><li><span class="TLline"><a href="/medgen/869293" ref="tree=MeSH" title="MedGen record for Spontaneous rupture of the globe">Spontaneous rupture of the globe</a></span></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_341067"><div><strong>Mowat-Wilson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341067</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.">C1856113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with a central depression), congenital heart defects with predilection for abnormalities of the pulmonary arteries and/or valves, Hirschsprung disease or chronic constipation, genitourinary anomalies (particularly hypospadias in males), and hypogenesis or agenesis of the corpus callosum. Most affected individuals have moderate-to-severe intellectual disability. Speech is typically limited to a few words or is absent, with relative preservation of receptive language skills. Growth restriction with microcephaly and seizure disorder are also common. Most affected people have a happy demeanor and a wide-based gait that can sometimes be confused with Angelman syndrome.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/341067">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341067" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mowat-Wilson syndrome</a></div></div>
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</div>
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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>
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<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/37166753">Keratosis pilaris: an update and approach to management.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kodali N,
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Patel VM,
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Schwartz RA</span><br />
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<span class="medgenPMjournal">Ital J Dermatol Venerol</span>
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2023 Jun;158(3):217-223.
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Epub 2023 May 11
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doi: 10.23736/S2784-8671.23.07594-1.
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<span class="bold">PMID: </span><a href="/pubmed/37166753" target="_blank">37166753</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36803942">Joubert syndrome: Molecular basis and treatment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Spahiu L,
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Behluli E,
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Grajçevci-Uka V,
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Liehr T,
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Temaj G</span><br />
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<span class="medgenPMjournal">J Mother Child</span>
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2022 Mar 1;26(1):118-123.
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||
Epub 2023 Feb 22
|
||
doi: 10.34763/jmotherandchild.20222601.d-22-00034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36803942" target="_blank">36803942</a><a href="/pmc/articles/PMC10032320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28623672">Craniosynostosis - Recognition, clinical characteristics, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kajdic N,
|
||
Spazzapan P,
|
||
Velnar T</span><br />
|
||
<span class="medgenPMjournal">Bosn J Basic Med Sci</span>
|
||
2018 May 20;18(2):110-116.
|
||
doi: 10.17305/bjbms.2017.2083.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28623672" target="_blank">28623672</a><a href="/pmc/articles/PMC5988529" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20eye%20morphology)%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 (428)</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>
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<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
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<div class="nl"><a target="_blank" href="/pubmed/18498352">Characterization of Drosophila G9a in vivo and identification of genetic interactants.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kato Y,
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Kato M,
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||
Tachibana M,
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Shinkai Y,
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Yamaguchi M</span><br />
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<span class="medgenPMjournal">Genes Cells</span>
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2008 Jul;13(7):703-22.
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||
Epub 2008 May 21
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||
doi: 10.1111/j.1365-2443.2008.01199.x.
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||
<span class="bold">PMID: </span><a href="/pubmed/18498352" target="_blank">18498352</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20eye%20morphology%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 (1)</a></div></div>
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</div>
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||
</div></div></div></div></div></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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