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<meta name="keywords" content="C2675512, dba7, diamond-blackfan anaemia caused by mutation in rpl11, diamond-blackfan anaemia type 7, diamond-blackfan anemia 7, diamond-blackfan anemia caused by mutation in rpl11, diamond-blackfan anemia type 7, disease or syndrome, rpl11, rpl11 diamond-blackfan anaemia, rpl11 diamond-blackfan anemia, rpl11-related diamond-blackfan anemia, 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="Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=436451
|
||
ConceptID=C2675512
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Diamond-Blackfan anemia 7<span class="h1sub">(DBA7)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436451</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.">C2675512</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>DBA7; RPL11-Related Diamond-Blackfan Anemia</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="RPL11 - ID: 6135 - NCBI Gene" href="/gene/6135" class="medgenPMinfo">RPL11</a> (1p36.11)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012938" target="_blank">MONDO:0012938</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/612562" target="_blank">612562</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_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK7047" target="_blank">Diamond-Blackfan Anemia</a></div><div>Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK7047#diamond-b.Summary" target="NBK7047">Summary</a> | <a class="medgenPMinfo" href="/books/NBK7047#diamond-b.Diagnosis" target="NBK7047">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK7047#diamond-b.Clinical_Characteristics" target="NBK7047">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK7047#diamond-b.Genetically_Related_Allelic_Di" target="NBK7047">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK7047#diamond-b.Differential_Diagnosis" target="NBK7047">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK7047#diamond-b.Management" target="NBK7047">Management</a> | <a class="medgenPMinfo" href="/books/NBK7047#diamond-b.Genetic_Counseling" target="NBK7047">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK7047#diamond-b.Resources" target="NBK7047">Resources</a> | <a class="medgenPMinfo" href="/books/NBK7047#diamond-b.Molecular_Genetics" target="NBK7047">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK7047#diamond-b.Chapter_Notes" target="NBK7047">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK7047#diamond-b.References" target="NBK7047">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Colin Sieff <a href="/books/NBK7047" target="NBK7047" title="NCBI Bookshelf: Diamond-Blackfan Anemia">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).
|
||
For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650). <a target="_blank" href="http://www.omim.org/entry/612562">http://www.omim.org/entry/612562</a></div></div>
|
||
</div>
|
||
|
||
<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>
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||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_21852"><div><strong>Vesicoureteral reflux</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21852</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.">C0042580</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by Lu et al., 2007). Genetic Heterogeneity of Vesicoureteral Reflux A locus designated VUR1 maps to chromosome 1p13. VUR2 (610878) is caused by mutation in the ROBO2 gene (602431) on chromosome 3p12; VUR3 (613674) is caused by mutation in the SOX17 gene (610928) on chromosome 8q11; VUR4 (614317) maps to chromosome 5; VUR5 (614318) maps to chromosome 13; VUR6 (614319) maps to chromosome 18; VUR7 (615390) maps to chromosome 12; and VUR8 (615963) is caused by mutation in the TNXB gene (600985) on chromosome 6p21. A possible X-linked form has been reported (VURX; 314550).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21852">Feature record</a> | <a href="/medgen?term=%22Vesicoureteral%20reflux%22%5BClinical%20Features%5D%20OR%2021852%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65140"><div><strong>Horseshoe kidney</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65140</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.">C0221353</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65140">Feature record</a> | <a href="/medgen?term=%22Horseshoe%20kidney%22%5BClinical%20Features%5D%20OR%2065140%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66029"><div><strong>Triphalangeal thumb</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66029</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.">C0241397</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66029">Feature record</a> | <a href="/medgen?term=%22Triphalangeal%20thumb%22%5BClinical%20Features%5D%20OR%2066029%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98469"><div><strong>Short thumb</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98469</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.">C0431890</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypoplasia (congenital reduction in size) of the thumb.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98469">Feature record</a> | <a href="/medgen?term=%22Short%20thumb%22%5BClinical%20Features%5D%20OR%2098469%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_396124"><div><strong>Small hypothenar eminence</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396124</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.">C1861395</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/396124">Feature record</a> | <a href="/medgen?term=%22Small%20hypothenar%20eminence%22%5BClinical%20Features%5D%20OR%20396124%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4415"><div><strong>Patent ductus arteriosus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4415</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.">C0013274</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4415">Feature record</a> | <a href="/medgen?term=%22Patent%20ductus%20arteriosus%22%5BClinical%20Features%5D%20OR%204415%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42366"><div><strong>Ventricular septal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42366</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.">C0018818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42366">Feature record</a> | <a href="/medgen?term=%22Ventricular%20septal%20defect%22%5BClinical%20Features%5D%20OR%2042366%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21498"><div><strong>Tetralogy of Fallot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21498</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.">C0039685</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Each of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nPeople with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nCritical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21498">Feature record</a> | <a href="/medgen?term=%22Tetralogy%20of%20Fallot%22%5BClinical%20Features%5D%20OR%2021498%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_91034"><div><strong>Atrial septal defect, ostium secundum type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91034</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.">C0344724</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/91034">Feature record</a> | <a href="/medgen?term=%22Atrial%20septal%20defect%2C%20ostium%20secundum%20type%22%5BClinical%20Features%5D%20OR%2091034%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4693"><div><strong>Fetal growth restriction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4693</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.">C0015934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4693">Feature record</a> | <a href="/medgen?term=%22Fetal%20growth%20restriction%22%5BClinical%20Features%5D%20OR%204693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99124"><div><strong>Growth delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99124</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.">C0456070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deficiency or slowing down of growth pre- and postnatally.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99124">Feature record</a> | <a href="/medgen?term=%22Growth%20delay%22%5BClinical%20Features%5D%20OR%2099124%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4549"><div><strong>Esophagitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4549</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.">C0014868</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of the esophagus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4549">Feature record</a> | <a href="/medgen?term=%22Esophagitis%22%5BClinical%20Features%5D%20OR%204549%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78613"><div><strong>Atresia of the external auditory canal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78613</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.">C0266597</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence or failure to form of the external auditory canal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78613">Feature record</a> | <a href="/medgen?term=%22Atresia%20of%20the%20external%20auditory%20canal%22%5BClinical%20Features%5D%20OR%2078613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_235586"><div><strong>Hearing impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>235586</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.">C1384666</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased magnitude of the sensory perception of sound.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/235586">Feature record</a> | <a href="/medgen?term=%22Hearing%20impairment%22%5BClinical%20Features%5D%20OR%20235586%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1920"><div><strong>Macrocytic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1920</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.">C0002886</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1920">Feature record</a> | <a href="/medgen?term=%22Macrocytic%20anemia%22%5BClinical%20Features%5D%20OR%201920%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_81303"><div><strong>Increased mean corpuscular volume</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>81303</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.">C0302845</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Larger than normal size of erythrocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/81303">Feature record</a> | <a href="/medgen?term=%22Increased%20mean%20corpuscular%20volume%22%5BClinical%20Features%5D%20OR%2081303%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18222"><div><strong>Osteopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18222</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.">C0029453</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18222">Feature record</a> | <a href="/medgen?term=%22Osteopenia%22%5BClinical%20Features%5D%20OR%2018222%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_14535"><div><strong>Osteoporosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14535</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.">C0029456</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14535">Feature record</a> | <a href="/medgen?term=%22Osteoporosis%22%5BClinical%20Features%5D%20OR%2014535%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</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.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56291"><div><strong>Congenital elevation of scapula</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56291</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.">C0152438</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56291">Feature record</a> | <a href="/medgen?term=%22Congenital%20elevation%20of%20scapula%22%5BClinical%20Features%5D%20OR%2056291%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65998"><div><strong>Recurrent infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65998</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.">C0239998</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to infections.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65998">Feature record</a> | <a href="/medgen?term=%22Recurrent%20infections%22%5BClinical%20Features%5D%20OR%2065998%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_155436"><div><strong>Recurrent otitis media</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155436</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.">C0747085</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155436">Feature record</a> | <a href="/medgen?term=%22Recurrent%20otitis%20media%22%5BClinical%20Features%5D%20OR%20155436%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163121"><div><strong>Neutropenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163121</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.">C0853697</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally low number of neutrophils in the peripheral blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163121">Feature record</a> | <a href="/medgen?term=%22Neutropenia%22%5BClinical%20Features%5D%20OR%20163121%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_12114"><div><strong>Decreased circulating vitamin D concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12114</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.">C0042870</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The concentration of vitamin D in the blood circulation is below the lower limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/12114">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20vitamin%20D%20concentration%22%5BClinical%20Features%5D%20OR%2012114%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3395"><div><strong>Choanal atresia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3395</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.">C0008297</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3395">Feature record</a> | <a href="/medgen?term=%22Choanal%20atresia%22%5BClinical%20Features%5D%20OR%203395%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_756015"><div><strong>Cleft palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>756015</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.">C2981150</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/756015">Feature record</a> | <a href="/medgen?term=%22Cleft%20palate%22%5BClinical%20Features%5D%20OR%20756015%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5164"><div><strong>Fetal distress</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5164</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.">C0015930</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5164">Feature record</a> | <a href="/medgen?term=%22Fetal%20distress%22%5BClinical%20Features%5D%20OR%205164%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6936"><div><strong>Polyhydramnios</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6936</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.">C0020224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of excess amniotic fluid in the uterus during pregnancy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6936">Feature record</a> | <a href="/medgen?term=%22Polyhydramnios%22%5BClinical%20Features%5D%20OR%206936%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_81303" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased mean corpuscular volume</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1920" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrocytic anemia</a></span></li></ul></li><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3395" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choanal atresia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_756015" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft palate</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short thumb</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_396124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Small hypothenar eminence</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66029" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Triphalangeal thumb</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12114" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating vitamin D concentration</a></span></li></ul></li><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal distress</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6936" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyhydramnios</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_91034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial septal defect, ostium secundum type</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4415" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Patent ductus arteriosus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21498" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tetralogy of Fallot</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular septal defect</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4549" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Esophagitis</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65140" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Horseshoe kidney</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21852" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vesicoureteral reflux</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163121" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neutropenia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65998" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent infections</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_155436" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent otitis media</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56291" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital elevation of scapula</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteopenia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14535" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteoporosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atresia of the external auditory canal</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_235586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hearing impairment</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal growth restriction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth delay</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=C1260899[DISCUI]&test_type=Clinical" ref="ncbi_uid=266045">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/NBK7047/" ref="ncbi_uid=266045">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=266045" ref="ncbi_uid=266045">V</a></span></span><span class="TLline"><a href="/medgen/266045" ref="tree=GTR&ncbi_uid=266045&link_uid=266045" title="View MedGen record for 'Diamond-Blackfan anemia'">Diamond-Blackfan anemia</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=C2676137[DISCUI]&test_type=Clinical" ref="ncbi_uid=390966">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=390966" target="_blank" href="/omim/105650">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=390966">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=390966" ref="ncbi_uid=390966">V</a></span></span><span class="TLline"><a href="/medgen/390966" ref="tree=GTR&ncbi_uid=390966&link_uid=390966" title="View MedGen record for 'Diamond-Blackfan anemia 1'">Diamond-Blackfan anemia 1</a></span></li><li class="TLclosed"><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 Ocolor" title="OMIM"><a ref="ncbi_uid=344104" target="_blank" href="/omim/606129">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=344104">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/344104" ref="tree=GTR&ncbi_uid=344104&link_uid=344104" title="View MedGen record for 'Diamond-Blackfan anemia 2'">Diamond-Blackfan anemia 2</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=C1857719[DISCUI]&test_type=Clinical" ref="ncbi_uid=387892">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=387892" target="_blank" href="/omim/602412">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=387892">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=387892" ref="ncbi_uid=387892">V</a></span></span><span class="TLline"><a href="/medgen/387892" ref="tree=GTR&ncbi_uid=387892&link_uid=387892" title="View MedGen record for 'Diamond-Blackfan anemia 3'">Diamond-Blackfan anemia 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=C2675860[DISCUI]&test_type=Clinical" ref="ncbi_uid=393906">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=393906" target="_blank" href="/omim/180472">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=393906">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=393906" ref="ncbi_uid=393906">V</a></span></span><span class="TLline"><a href="/medgen/393906" ref="tree=GTR&ncbi_uid=393906&link_uid=393906" title="View MedGen record for 'Diamond-Blackfan anemia 4'">Diamond-Blackfan anemia 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=C2675859[DISCUI]&test_type=Clinical" ref="ncbi_uid=382705">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382705" target="_blank" href="/omim/180468">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=382705">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=382705" ref="ncbi_uid=382705">V</a></span></span><span class="TLline"><a href="/medgen/382705" ref="tree=GTR&ncbi_uid=382705&link_uid=382705" title="View MedGen record for 'Diamond-Blackfan anemia 5'">Diamond-Blackfan anemia 5</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=C2931850[DISCUI]&test_type=Clinical" ref="ncbi_uid=419918">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419918" target="_blank" href="/omim/603634">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=419918">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419918" ref="ncbi_uid=419918">V</a></span></span><span class="TLline"><a href="/medgen/419918" ref="tree=GTR&ncbi_uid=419918&link_uid=419918" title="View MedGen record for 'Diamond-Blackfan anemia 6'">Diamond-Blackfan anemia 6</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=C2675512[DISCUI]&test_type=Clinical" ref="ncbi_uid=436451">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436451" target="_blank" href="/omim/604175">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=436451">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=436451" ref="ncbi_uid=436451">V</a></span></span><span class="TLline">Diamond-Blackfan anemia 7</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675511[DISCUI]&test_type=Clinical" ref="ncbi_uid=390817">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=390817" target="_blank" href="/omim/603658">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=390817">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=390817" ref="ncbi_uid=390817">V</a></span></span><span class="TLline"><a href="/medgen/390817" ref="tree=GTR&ncbi_uid=390817&link_uid=390817" title="View MedGen record for 'Diamond-Blackfan anemia 8'">Diamond-Blackfan anemia 8</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=C2750081[DISCUI]&test_type=Clinical" ref="ncbi_uid=412874">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=412874" target="_blank" href="/omim/603632">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=412874">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=412874" ref="ncbi_uid=412874">V</a></span></span><span class="TLline"><a href="/medgen/412874" ref="tree=GTR&ncbi_uid=412874&link_uid=412874" title="View MedGen record for 'Diamond-Blackfan anemia 9'">Diamond-Blackfan anemia 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=C2750080[DISCUI]&test_type=Clinical" ref="ncbi_uid=412873">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=412873" target="_blank" href="/omim/603701">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=412873">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=412873" ref="ncbi_uid=412873">V</a></span></span><span class="TLline"><a href="/medgen/412873" ref="tree=GTR&ncbi_uid=412873&link_uid=412873" title="View MedGen record for 'Diamond-Blackfan anemia 10'">Diamond-Blackfan anemia 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=C3554042[DISCUI]&test_type=Clinical" ref="ncbi_uid=766956">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=766956" target="_blank" href="/omim/603704">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=766956">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=766956" ref="ncbi_uid=766956">V</a></span></span><span class="TLline"><a href="/medgen/766956" ref="tree=GTR&ncbi_uid=766956&link_uid=766956" title="View MedGen record for 'Diamond-Blackfan anemia 11'">Diamond-Blackfan anemia 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=C3809888[DISCUI]&test_type=Clinical" ref="ncbi_uid=816218">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816218" target="_blank" href="/omim/604174">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=816218">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816218" ref="ncbi_uid=816218">V</a></span></span><span class="TLline"><a href="/medgen/816218" ref="tree=GTR&ncbi_uid=816218&link_uid=816218" title="View MedGen record for 'Diamond-Blackfan anemia 12'">Diamond-Blackfan anemia 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=C4014641[DISCUI]&test_type=Clinical" ref="ncbi_uid=863078">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=863078" target="_blank" href="/omim/603633">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=863078">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=863078" ref="ncbi_uid=863078">V</a></span></span><span class="TLline"><a href="/medgen/863078" ref="tree=GTR&ncbi_uid=863078&link_uid=863078" title="View MedGen record for 'Diamond-Blackfan anemia 13'">Diamond-Blackfan anemia 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=C4225422[DISCUI]&test_type=Clinical" ref="ncbi_uid=895657">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=895657" target="_blank" href="/omim/300945">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=895657">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=895657" ref="ncbi_uid=895657">V</a></span></span><span class="TLline"><a href="/medgen/895657" ref="tree=GTR&ncbi_uid=895657&link_uid=895657" title="View MedGen record for 'Diamond-Blackfan anemia 14 with mandibulofacial dysostosis'">Diamond-Blackfan anemia 14 with mandibulofacial dysostosis</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=C4225411[DISCUI]&test_type=Clinical" ref="ncbi_uid=902755">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=902755" target="_blank" href="/omim/603685">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=902755">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=902755" ref="ncbi_uid=902755">V</a></span></span><span class="TLline"><a href="/medgen/902755" ref="tree=GTR&ncbi_uid=902755&link_uid=902755" title="View MedGen record for 'Diamond-Blackfan anemia 15 with mandibulofacial dysostosis'">Diamond-Blackfan anemia 15 with mandibulofacial dysostosis</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=C4479424[DISCUI]&test_type=Clinical" ref="ncbi_uid=1385861">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1385861" target="_blank" href="/omim/607526">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=1385861" ref="ncbi_uid=1385861">V</a></span></span><span class="TLline"><a href="/medgen/1385861" ref="tree=GTR&ncbi_uid=1385861&link_uid=1385861" title="View MedGen record for 'Diamond-Blackfan anemia 16'">Diamond-Blackfan anemia 16</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=C4479428[DISCUI]&test_type=Clinical" ref="ncbi_uid=1373199">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1373199" target="_blank" href="/omim/603702">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=1373199" ref="ncbi_uid=1373199">V</a></span></span><span class="TLline"><a href="/medgen/1373199" ref="tree=GTR&ncbi_uid=1373199&link_uid=1373199" title="View MedGen record for 'Diamond-Blackfan anemia 17'">Diamond-Blackfan anemia 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=C5193020[DISCUI]&test_type=Clinical" ref="ncbi_uid=1681154">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1681154" target="_blank" href="/omim/604179">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=1681154">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1681154" ref="ncbi_uid=1681154">V</a></span></span><span class="TLline"><a href="/medgen/1681154" ref="tree=GTR&ncbi_uid=1681154&link_uid=1681154" title="View MedGen record for 'Diamond-Blackfan anemia 18'">Diamond-Blackfan anemia 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=C5193021[DISCUI]&test_type=Clinical" ref="ncbi_uid=1683070">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1683070" target="_blank" href="/omim/618312">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=1683070">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1683070" ref="ncbi_uid=1683070">V</a></span></span><span class="TLline"><a href="/medgen/1683070" ref="tree=GTR&ncbi_uid=1683070&link_uid=1683070" title="View MedGen record for 'Diamond-Blackfan anemia 19'">Diamond-Blackfan anemia 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=C5193022[DISCUI]&test_type=Clinical" ref="ncbi_uid=1674961">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1674961" target="_blank" href="/omim/603674">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=1674961">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1674961" ref="ncbi_uid=1674961">V</a></span></span><span class="TLline"><a href="/medgen/1674961" ref="tree=GTR&ncbi_uid=1674961&link_uid=1674961" title="View MedGen record for 'Diamond-Blackfan anemia 20'">Diamond-Blackfan anemia 20</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/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/208860" ref="tree=MeSH" title="MedGen record for Hematopoietic and Lymphatic System Disorder">Hematopoietic and Lymphatic System Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/5483" ref="tree=MeSH" title="MedGen record for Hematologic disorder">Hematologic disorder</a></span><ul><li><span class="TLline"><a href="/medgen/276575" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Hematopoietic and Lymphoid Cell Disorder">Non-Neoplastic Hematopoietic and Lymphoid Cell Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/760584" ref="tree=MeSH" title="MedGen record for Congenital hematological disorder">Congenital hematological disorder</a></span><ul><li><span class="TLline"><a href="/medgen/266045" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia">Diamond-Blackfan anemia</a></span><ul><li><span class="matched_ds">Diamond-Blackfan anemia 7</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</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>
|
||
<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>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28533057">Late Effects Screening Guidelines after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects After Pediatric HCT.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dietz AC,
|
||
Savage SA,
|
||
Vlachos A,
|
||
Mehta PA,
|
||
Bresters D,
|
||
Tolar J,
|
||
Bonfim C,
|
||
Dalle JH,
|
||
de la Fuente J,
|
||
Skinner R,
|
||
Boulad F,
|
||
Duncan CN,
|
||
Baker KS,
|
||
Pulsipher MA,
|
||
Lipton JM,
|
||
Wagner JE,
|
||
Alter BP</span><br />
|
||
<span class="medgenPMjournal">Biol Blood Marrow Transplant</span>
|
||
2017 Sep;23(9):1422-1428.
|
||
Epub 2017 May 19
|
||
doi: 10.1016/j.bbmt.2017.05.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28533057" target="_blank">28533057</a><a href="/pmc/articles/PMC5565711" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28115275">Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric Hematopoietic Cell Transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dietz AC,
|
||
Mehta PA,
|
||
Vlachos A,
|
||
Savage SA,
|
||
Bresters D,
|
||
Tolar J,
|
||
Boulad F,
|
||
Dalle JH,
|
||
Bonfim C,
|
||
de la Fuente J,
|
||
Duncan CN,
|
||
Baker KS,
|
||
Pulsipher MA,
|
||
Lipton JM,
|
||
Wagner JE,
|
||
Alter BP</span><br />
|
||
<span class="medgenPMjournal">Biol Blood Marrow Transplant</span>
|
||
2017 May;23(5):726-735.
|
||
Epub 2017 Jan 20
|
||
doi: 10.1016/j.bbmt.2017.01.075.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28115275" target="_blank">28115275</a><a href="/pmc/articles/PMC5423755" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3129394">Diagnosis and management of red cell aplasia in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glader BE</span><br />
|
||
<span class="medgenPMjournal">Hematol Oncol Clin North Am</span>
|
||
1987 Sep;1(3):431-47.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3129394" target="_blank">3129394</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(diamond-blackfan%20anemia%207)%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 (7)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21248735">Clinical utility gene card for: Diamond Blackfan anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vlachos A,
|
||
Dahl N,
|
||
Dianzani I,
|
||
Lipton JM</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2011 May;19(5)
|
||
Epub 2011 Jan 19
|
||
doi: 10.1038/ejhg.2010.247.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21248735" target="_blank">21248735</a><a href="/pmc/articles/PMC3083626" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></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/38049194">The metabolic basis of inherited neutropenias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oyarbide U,
|
||
Crane GM,
|
||
Corey SJ</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2024 Jan;204(1):45-55.
|
||
Epub 2023 Dec 4
|
||
doi: 10.1111/bjh.19192.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38049194" target="_blank">38049194</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37216690">Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Molteni E,
|
||
Bono E,
|
||
Gallì A,
|
||
Elena C,
|
||
Ferrari J,
|
||
Fiorelli N,
|
||
Pozzi S,
|
||
Ferretti VV,
|
||
Sarchi M,
|
||
Rizzo E,
|
||
Camilotto V,
|
||
Boveri E,
|
||
Cazzola M,
|
||
Malcovati L</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2023 Aug 17;142(7):643-657.
|
||
doi: 10.1182/blood.2022019304.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37216690" target="_blank">37216690</a><a href="/pmc/articles/PMC10644067" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32571604">Hereditary Predisposition to Hematopoietic Neoplasms: When Bloodline Matters for Blood Cancers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mangaonkar AA,
|
||
Patnaik MM</span><br />
|
||
<span class="medgenPMjournal">Mayo Clin Proc</span>
|
||
2020 Jul;95(7):1482-1498.
|
||
Epub 2020 Jun 19
|
||
doi: 10.1016/j.mayocp.2019.12.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32571604" target="_blank">32571604</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30503522">The Genetic Landscape of Diamond-Blackfan Anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ulirsch JC,
|
||
Verboon JM,
|
||
Kazerounian S,
|
||
Guo MH,
|
||
Yuan D,
|
||
Ludwig LS,
|
||
Handsaker RE,
|
||
Abdulhay NJ,
|
||
Fiorini C,
|
||
Genovese G,
|
||
Lim ET,
|
||
Cheng A,
|
||
Cummings BB,
|
||
Chao KR,
|
||
Beggs AH,
|
||
Genetti CA,
|
||
Sieff CA,
|
||
Newburger PE,
|
||
Niewiadomska E,
|
||
Matysiak M,
|
||
Vlachos A,
|
||
Lipton JM,
|
||
Atsidaftos E,
|
||
Glader B,
|
||
Narla A,
|
||
Gleizes PE,
|
||
O'Donohue MF,
|
||
Montel-Lehry N,
|
||
Amor DJ,
|
||
McCarroll SA,
|
||
O'Donnell-Luria AH,
|
||
Gupta N,
|
||
Gabriel SB,
|
||
MacArthur DG,
|
||
Lander ES,
|
||
Lek M,
|
||
Da Costa L,
|
||
Nathan DG,
|
||
Korostelev AA,
|
||
Do R,
|
||
Sankaran VG,
|
||
Gazda HT</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2018 Dec 6;103(6):930-947.
|
||
Epub 2018 Nov 29
|
||
doi: 10.1016/j.ajhg.2018.10.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30503522" target="_blank">30503522</a><a href="/pmc/articles/PMC6288280" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10698294">Diamond-Blackfan anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Willig TN,
|
||
Gazda H,
|
||
Sieff CA</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Hematol</span>
|
||
2000 Mar;7(2):85-94.
|
||
doi: 10.1097/00062752-200003000-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10698294" target="_blank">10698294</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Diamond-Blackfan%20anemia%207%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 (59)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37216690">Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Molteni E,
|
||
Bono E,
|
||
Gallì A,
|
||
Elena C,
|
||
Ferrari J,
|
||
Fiorelli N,
|
||
Pozzi S,
|
||
Ferretti VV,
|
||
Sarchi M,
|
||
Rizzo E,
|
||
Camilotto V,
|
||
Boveri E,
|
||
Cazzola M,
|
||
Malcovati L</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2023 Aug 17;142(7):643-657.
|
||
doi: 10.1182/blood.2022019304.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37216690" target="_blank">37216690</a><a href="/pmc/articles/PMC10644067" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32571604">Hereditary Predisposition to Hematopoietic Neoplasms: When Bloodline Matters for Blood Cancers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mangaonkar AA,
|
||
Patnaik MM</span><br />
|
||
<span class="medgenPMjournal">Mayo Clin Proc</span>
|
||
2020 Jul;95(7):1482-1498.
|
||
Epub 2020 Jun 19
|
||
doi: 10.1016/j.mayocp.2019.12.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32571604" target="_blank">32571604</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30503522">The Genetic Landscape of Diamond-Blackfan Anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ulirsch JC,
|
||
Verboon JM,
|
||
Kazerounian S,
|
||
Guo MH,
|
||
Yuan D,
|
||
Ludwig LS,
|
||
Handsaker RE,
|
||
Abdulhay NJ,
|
||
Fiorini C,
|
||
Genovese G,
|
||
Lim ET,
|
||
Cheng A,
|
||
Cummings BB,
|
||
Chao KR,
|
||
Beggs AH,
|
||
Genetti CA,
|
||
Sieff CA,
|
||
Newburger PE,
|
||
Niewiadomska E,
|
||
Matysiak M,
|
||
Vlachos A,
|
||
Lipton JM,
|
||
Atsidaftos E,
|
||
Glader B,
|
||
Narla A,
|
||
Gleizes PE,
|
||
O'Donohue MF,
|
||
Montel-Lehry N,
|
||
Amor DJ,
|
||
McCarroll SA,
|
||
O'Donnell-Luria AH,
|
||
Gupta N,
|
||
Gabriel SB,
|
||
MacArthur DG,
|
||
Lander ES,
|
||
Lek M,
|
||
Da Costa L,
|
||
Nathan DG,
|
||
Korostelev AA,
|
||
Do R,
|
||
Sankaran VG,
|
||
Gazda HT</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2018 Dec 6;103(6):930-947.
|
||
Epub 2018 Nov 29
|
||
doi: 10.1016/j.ajhg.2018.10.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30503522" target="_blank">30503522</a><a href="/pmc/articles/PMC6288280" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30228860">An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Da Costa L,
|
||
Narla A,
|
||
Mohandas N</span><br />
|
||
<span class="medgenPMjournal">F1000Res</span>
|
||
2018;7
|
||
Epub 2018 Aug 29
|
||
doi: 10.12688/f1000research.15542.1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30228860" target="_blank">30228860</a><a href="/pmc/articles/PMC6117846" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10698294">Diamond-Blackfan anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Willig TN,
|
||
Gazda H,
|
||
Sieff CA</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Hematol</span>
|
||
2000 Mar;7(2):85-94.
|
||
doi: 10.1097/00062752-200003000-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10698294" target="_blank">10698294</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Diamond-Blackfan%20anemia%207%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 (53)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38462764">Treatment of refractory/relapsed Diamond-Blackfan anaemia with eltrombopag.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duncan BB,
|
||
Lotter JL,
|
||
Superata J,
|
||
Barranta ME,
|
||
Machado T,
|
||
Darden I,
|
||
Venugopal S,
|
||
Wu CO,
|
||
Abkowitz JL,
|
||
Dunbar CE,
|
||
Young DJ</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2024 May;204(5):2077-2085.
|
||
Epub 2024 Mar 10
|
||
doi: 10.1111/bjh.19357.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38462764" target="_blank">38462764</a><a href="/pmc/articles/PMC11212774" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33529394">Deferasirox-associated Fanconi syndrome in adult patients with transfusional iron overload.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yui JC,
|
||
Geara A,
|
||
Sayani F</span><br />
|
||
<span class="medgenPMjournal">Vox Sang</span>
|
||
2021 Aug;116(7):793-797.
|
||
Epub 2021 Feb 2
|
||
doi: 10.1111/vox.13064.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33529394" target="_blank">33529394</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32343795">Favorable outcomes of hematopoietic stem cell transplantation in children and adolescents with Diamond-Blackfan anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strahm B,
|
||
Loewecke F,
|
||
Niemeyer CM,
|
||
Albert M,
|
||
Ansari M,
|
||
Bader P,
|
||
Bertrand Y,
|
||
Burkhardt B,
|
||
Da Costa LM,
|
||
Ferster A,
|
||
Fischer A,
|
||
Güngör T,
|
||
Gruhn B,
|
||
Hainmann I,
|
||
Kapp F,
|
||
Lang P,
|
||
Müller I,
|
||
Schulz A,
|
||
Szvetnik A,
|
||
Wlodarski M,
|
||
Noellke P,
|
||
Leblanc T,
|
||
Dalle JH</span><br />
|
||
<span class="medgenPMjournal">Blood Adv</span>
|
||
2020 Apr 28;4(8):1760-1769.
|
||
doi: 10.1182/bloodadvances.2019001210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32343795" target="_blank">32343795</a><a href="/pmc/articles/PMC7189291" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24453067">Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parrella S,
|
||
Aspesi A,
|
||
Quarello P,
|
||
Garelli E,
|
||
Pavesi E,
|
||
Carando A,
|
||
Nardi M,
|
||
Ellis SR,
|
||
Ramenghi U,
|
||
Dianzani I</span><br />
|
||
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
|
||
2014 Jul;61(7):1319-21.
|
||
Epub 2014 Jan 22
|
||
doi: 10.1002/pbc.24944.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24453067" target="_blank">24453067</a><a href="/pmc/articles/PMC4684094" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10673683">Epstein-Barr virus-associated lymphoproliferative disease after a cord blood transplant for Diamond-Blackfan anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ohga S,
|
||
Kanaya Y,
|
||
Maki H,
|
||
Takada H,
|
||
Ohshima K,
|
||
Kanda M,
|
||
Nomura A,
|
||
Suminoe A,
|
||
Matsuzaki A,
|
||
Hara T</span><br />
|
||
<span class="medgenPMjournal">Bone Marrow Transplant</span>
|
||
2000 Jan;25(2):209-12.
|
||
doi: 10.1038/sj.bmt.1702138.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10673683" target="_blank">10673683</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Diamond-Blackfan%20anemia%207%22%20AND%20Therapy%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 (38)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35583751">Mutations in RPS19 may affect ribosome function and biogenesis in Diamond Blackfan anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hiregange DG,
|
||
Rivalta A,
|
||
Yonath A,
|
||
Zimmerman E,
|
||
Bashan A,
|
||
Yonath H</span><br />
|
||
<span class="medgenPMjournal">FEBS Open Bio</span>
|
||
2022 Jul;12(7):1419-1434.
|
||
Epub 2022 Jun 6
|
||
doi: 10.1002/2211-5463.13444.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35583751" target="_blank">35583751</a><a href="/pmc/articles/PMC9249338" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30700418">Regulation of globin-heme balance in Diamond-Blackfan anemia by HSP70/GATA1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rio S,
|
||
Gastou M,
|
||
Karboul N,
|
||
Derman R,
|
||
Suriyun T,
|
||
Manceau H,
|
||
Leblanc T,
|
||
El Benna J,
|
||
Schmitt C,
|
||
Azouzi S,
|
||
Larghéro J,
|
||
Karim Z,
|
||
Macias-Garcia A,
|
||
Chen JJ,
|
||
Hermine O,
|
||
Courtois G,
|
||
Puy H,
|
||
Gouya L,
|
||
Mohandas N,
|
||
Da Costa L</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2019 Mar 21;133(12):1358-1370.
|
||
Epub 2019 Jan 30
|
||
doi: 10.1182/blood-2018-09-875674.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30700418" target="_blank">30700418</a><a href="/pmc/articles/PMC6428670" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30503522">The Genetic Landscape of Diamond-Blackfan Anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ulirsch JC,
|
||
Verboon JM,
|
||
Kazerounian S,
|
||
Guo MH,
|
||
Yuan D,
|
||
Ludwig LS,
|
||
Handsaker RE,
|
||
Abdulhay NJ,
|
||
Fiorini C,
|
||
Genovese G,
|
||
Lim ET,
|
||
Cheng A,
|
||
Cummings BB,
|
||
Chao KR,
|
||
Beggs AH,
|
||
Genetti CA,
|
||
Sieff CA,
|
||
Newburger PE,
|
||
Niewiadomska E,
|
||
Matysiak M,
|
||
Vlachos A,
|
||
Lipton JM,
|
||
Atsidaftos E,
|
||
Glader B,
|
||
Narla A,
|
||
Gleizes PE,
|
||
O'Donohue MF,
|
||
Montel-Lehry N,
|
||
Amor DJ,
|
||
McCarroll SA,
|
||
O'Donnell-Luria AH,
|
||
Gupta N,
|
||
Gabriel SB,
|
||
MacArthur DG,
|
||
Lander ES,
|
||
Lek M,
|
||
Da Costa L,
|
||
Nathan DG,
|
||
Korostelev AA,
|
||
Do R,
|
||
Sankaran VG,
|
||
Gazda HT</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2018 Dec 6;103(6):930-947.
|
||
Epub 2018 Nov 29
|
||
doi: 10.1016/j.ajhg.2018.10.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30503522" target="_blank">30503522</a><a href="/pmc/articles/PMC6288280" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18412286">RPS19 mutations in patients with Diamond-Blackfan anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Campagnoli MF,
|
||
Ramenghi U,
|
||
Armiraglio M,
|
||
Quarello P,
|
||
Garelli E,
|
||
Carando A,
|
||
Avondo F,
|
||
Pavesi E,
|
||
Fribourg S,
|
||
Gleizes PE,
|
||
Loreni F,
|
||
Dianzani I</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2008 Jul;29(7):911-20.
|
||
doi: 10.1002/humu.20752.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18412286" target="_blank">18412286</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10673683">Epstein-Barr virus-associated lymphoproliferative disease after a cord blood transplant for Diamond-Blackfan anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ohga S,
|
||
Kanaya Y,
|
||
Maki H,
|
||
Takada H,
|
||
Ohshima K,
|
||
Kanda M,
|
||
Nomura A,
|
||
Suminoe A,
|
||
Matsuzaki A,
|
||
Hara T</span><br />
|
||
<span class="medgenPMjournal">Bone Marrow Transplant</span>
|
||
2000 Jan;25(2):209-12.
|
||
doi: 10.1038/sj.bmt.1702138.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10673683" target="_blank">10673683</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Diamond-Blackfan%20anemia%207%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 (30)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39923319">Immunodeficiency in children with Diamond Blackfan and Diamond Blackfan like anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ragab I,
|
||
Makkeyah S,
|
||
Hassan N,
|
||
Botros M,
|
||
Da Costa L,
|
||
Aly NH</span><br />
|
||
<span class="medgenPMjournal">Blood Cells Mol Dis</span>
|
||
2025 Mar;111:102911.
|
||
Epub 2025 Feb 7
|
||
doi: 10.1016/j.bcmd.2025.102911.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39923319" target="_blank">39923319</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35583751">Mutations in RPS19 may affect ribosome function and biogenesis in Diamond Blackfan anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hiregange DG,
|
||
Rivalta A,
|
||
Yonath A,
|
||
Zimmerman E,
|
||
Bashan A,
|
||
Yonath H</span><br />
|
||
<span class="medgenPMjournal">FEBS Open Bio</span>
|
||
2022 Jul;12(7):1419-1434.
|
||
Epub 2022 Jun 6
|
||
doi: 10.1002/2211-5463.13444.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35583751" target="_blank">35583751</a><a href="/pmc/articles/PMC9249338" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32571604">Hereditary Predisposition to Hematopoietic Neoplasms: When Bloodline Matters for Blood Cancers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mangaonkar AA,
|
||
Patnaik MM</span><br />
|
||
<span class="medgenPMjournal">Mayo Clin Proc</span>
|
||
2020 Jul;95(7):1482-1498.
|
||
Epub 2020 Jun 19
|
||
doi: 10.1016/j.mayocp.2019.12.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32571604" target="_blank">32571604</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30503522">The Genetic Landscape of Diamond-Blackfan Anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ulirsch JC,
|
||
Verboon JM,
|
||
Kazerounian S,
|
||
Guo MH,
|
||
Yuan D,
|
||
Ludwig LS,
|
||
Handsaker RE,
|
||
Abdulhay NJ,
|
||
Fiorini C,
|
||
Genovese G,
|
||
Lim ET,
|
||
Cheng A,
|
||
Cummings BB,
|
||
Chao KR,
|
||
Beggs AH,
|
||
Genetti CA,
|
||
Sieff CA,
|
||
Newburger PE,
|
||
Niewiadomska E,
|
||
Matysiak M,
|
||
Vlachos A,
|
||
Lipton JM,
|
||
Atsidaftos E,
|
||
Glader B,
|
||
Narla A,
|
||
Gleizes PE,
|
||
O'Donohue MF,
|
||
Montel-Lehry N,
|
||
Amor DJ,
|
||
McCarroll SA,
|
||
O'Donnell-Luria AH,
|
||
Gupta N,
|
||
Gabriel SB,
|
||
MacArthur DG,
|
||
Lander ES,
|
||
Lek M,
|
||
Da Costa L,
|
||
Nathan DG,
|
||
Korostelev AA,
|
||
Do R,
|
||
Sankaran VG,
|
||
Gazda HT</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2018 Dec 6;103(6):930-947.
|
||
Epub 2018 Nov 29
|
||
doi: 10.1016/j.ajhg.2018.10.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30503522" target="_blank">30503522</a><a href="/pmc/articles/PMC6288280" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10698294">Diamond-Blackfan anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Willig TN,
|
||
Gazda H,
|
||
Sieff CA</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Hematol</span>
|
||
2000 Mar;7(2):85-94.
|
||
doi: 10.1097/00062752-200003000-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10698294" target="_blank">10698294</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Diamond-Blackfan%20anemia%207%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 (39)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/28809446">Deferasirox for managing iron overload in people with thalassaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bollig C,
|
||
Schell LK,
|
||
Rücker G,
|
||
Allert R,
|
||
Motschall E,
|
||
Niemeyer CM,
|
||
Bassler D,
|
||
Meerpohl JJ</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2017 Aug 15;8(8):CD007476.
|
||
doi: 10.1002/14651858.CD007476.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28809446" target="_blank">28809446</a><a href="/pmc/articles/PMC6483623" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Diamond-Blackfan%20anemia%207%22%20AND%20systematic%5Bsb%5D%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>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</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">
|
||
<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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|
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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=C2675512%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (26)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675512%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (33)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675512%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (9)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2675512%5bDISCUI%5d" target="_blank">See all (40)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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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=612562" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Diamond-Blackfan%20anemia%207" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<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>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(diamond-blackfan%20anemia%207)%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><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="/pmc/articles/PMC3083626/">EuroGenetest, 2011</a><div>Clinical utility gene card for: Diamond Blackfan anemia</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<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=604175" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=6135[geneid]" target="_blank">View RPL11 variations in ClinVar</a></li><li><a href="/nuccore/225903418" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=612562" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/diamond_blackfan_anemia_7" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Diamond-Blackfan%20anemia%207" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15569/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301769" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Diamond-Blackfan%20anemia%207" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Diamond-Blackfan%20anemia%207%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=436451" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=436451" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2675512[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2675512[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=436451" ref="log$=recordlinks">MeSH</a>
|
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=436451" ref="log$=recordlinks">NCBI Bookshelf</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=436451" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=436451" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=436451" ref="log$=recordlinks">PMC Articles</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
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</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=436451" ref="log$=recordlinks">PubMed</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
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|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=436451" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=436451" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=436451" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
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<div id="HTDisplay" class="">
|
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<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
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<div class="action">
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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||
Clear
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</a>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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||
Turn Off
|
||
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|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
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Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d3aa3e67c23b31e0b44dc5">Diamond-Blackfan anemia 7</a>
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