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<div><div class="rprt rprt-lab clearfix"><div class="rprt_header"><h1 class="margin_t0" data-lab-id="1237" data-lab-name="Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory" id="lab-info">Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory</h1></div><div class="lab-page-header lab_box_bd"><div class="col six_col"><ul class="std_list"><li>Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory</li><li>Cincinnati Children's Hospital Medical Center (CCHMC)</li><li class="margin_t1">3333 Burnet Ave ML 4006</li><li>Cincinnati, Ohio, United States 45229-3039</li><li>Phone: 513-636-4474<br />Fax: 513-636-4373<br />Email: <a href="mailto:labgeneticcounselors@cchmc.org" target="_blank">labgeneticcounselors@cchmc.org</a></li><li>Website: <a class="external-link" href="https://www.cincinnatichildrens.org/service/g/genetics-genomics-diagnostic-lab" target="_blank">https://www.cincinnatichildrens.org/service/g/genetics-genomics-diagnostic-lab</a></li><li class="margin_t1"> Affiliated with: <ul class="margin_t0"><li>Cincinnati Children's Hospital Medical Center, <a class="external-link" href="http://www.cchmc.org/" target="_blank" title="Cincinnati Children's Hospital Medical Center">http://www.cchmc.org/</a></li></ul></li></ul></div><div class="col six_col"><ul class="std_list has_icon_in_li"><li><span class="ui-icon icon-myncbi"></span><a href="/clinvar/submitters/1237/.">Submissions in ClinVar</a></li><li><span class="ui-icon icon-myncbi"></span><span class="rm-lab-extra-msg hide">This is one of your preferred labs. </span><a href="#" id="myncbi-add-remove" data-action="add" data-text-for-add="Add to preferred labs" data-text-for-remove="Remove it">Add to preferred labs</a><span class="rm-lab-extra-msg hide">, <a href="/myncbi/preferences/" class="see-all-pref-labs rm-lab-extra-msg">See all preferred labs</a></span></li></ul><p class="gtr-lab-id">GTR Lab ID: 1237, Last updated:2024-07-01</p></div></div><div style="clear:both"></div><div class="col six_col" id="lab_col1"><div class="box"><h2>Personnel</h2><div class="lab_box_bd"><ul class="li_magin_t1 personal_list"><li><strong>Director: </strong>Stephanie Balow, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director<br />Phone: 513-636-4474<br />Email: <a href="mailto:LabGeneticCounselors@cchmc.org" target="_blank">LabGeneticCounselors@cchmc.org</a></li><li><strong>Director: </strong>Casey Brewer, PhD, ABMGG Board Certified, Diplomate of the American Board of Medica, Lab Director<br />Phone: 513-636-4474<br />Fax: 513-636-4373<br />Email: <a href="mailto:labgeneticcounselors@cchmc.org" target="_blank">labgeneticcounselors@cchmc.org</a></li><li><strong>Director: </strong>D. Brian Dawson, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director<br />Phone: 513-636-4474<br />Fax: 513-636-4373<br />Email: <a href="mailto:LabGeneticCounselors@cchmc.org" target="_blank">LabGeneticCounselors@cchmc.org</a></li><li><strong>Director: </strong>Qiaoning Guan, PhD, MD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director<br />Phone: 513-636-4474<br />Fax: 513-636-4373<br />Email: <a href="mailto:LabGeneticCounselors@cchmc.org" target="_blank">LabGeneticCounselors@cchmc.org</a></li><li><strong>Director: </strong>Jie Liu, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director<br />Phone: 513-636-4474<br />Email: <a href="mailto:LabGeneticCounselors@cchmc.org" target="_blank">LabGeneticCounselors@cchmc.org</a></li><li><strong>Director: </strong>Jaime Lopes, PhD, ABMGG Board Certified, Diplomate of the American Board of Medica, Lab Director<br />Phone: 513-636-4474<br />Fax: 513-636-4373<br />Email: <a href="mailto:labgeneticcounselors@cchmc.org" target="_blank">labgeneticcounselors@cchmc.org</a></li><li><strong>Director: </strong>Teresa Smolarek, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director<br />Phone: 513-636-4474<br />Email: <a href="mailto:LabGeneticCounselors@cchmc.org" target="_blank">LabGeneticCounselors@cchmc.org</a></li><li><strong>Director: </strong>Yaning Wu, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director<br />Phone: 513-636-4474<br />Email: <a href="mailto:LabGeneticCounselors@cchmc.org" target="_blank">LabGeneticCounselors@cchmc.org</a></li><li><strong>Director: </strong>Wenying Zhang, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director<br />Phone: 513-636-4474<br />Fax: 513-636-4373<br />Email: <a href="mailto:LabGeneticCounselors@cchmc.org" target="_blank">LabGeneticCounselors@cchmc.org</a></li><li>Lab Administration, Administrator<br />Phone: 513-636-4474<br />Fax: 513-636-4373<br />Email: <a href="mailto:LabGeneticCounselors@cchmc.org" target="_blank">LabGeneticCounselors@cchmc.org</a></li><li>Dharti Adhia, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor<br />Phone: 513-636-4474<br />Fax: 513-636-4373<br />Email: <a href="mailto:LabGeneticCounselors@cchmc.org" target="_blank">LabGeneticCounselors@cchmc.org</a></li><li>Diana Brightman, PhD, MS, CGC, Genetic Counselor<br />Phone: 513-636-4474<br />Email: <a href="mailto:LabGeneticCounselors@cchmc.org" target="_blank">LabGeneticCounselors@cchmc.org</a></li><li>Courtney Brown, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor<br />Phone: 513-636-4474<br />Email: <a href="mailto:LabGeneticCounselors@cchmc.org" target="_blank">LabGeneticCounselors@cchmc.org</a></li><li>Lexi Coyan, MS, CGC, Genetic Counselor<br />Phone: 513-636-4474<br />Fax: 513-636-4373<br />Email: <a href="mailto:labgeneticcounselors@cchmc.org" target="_blank">labgeneticcounselors@cchmc.org</a></li><li>Rachel Doberstein, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor<br />Phone: 513-636-4474<br />Fax: 513-636-4373<br />Email: <a href="mailto:LabGeneticCounselors@cchmc.org" target="_blank">LabGeneticCounselors@cchmc.org</a></li><li>Jennifer Glass, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor<br />Phone: 513-636-4474<br />Email: <a href="mailto:LabGeneticCounselors@cchmc.org" target="_blank">LabGeneticCounselors@cchmc.org</a></li><li>Sayaka Hashimoto, MS, CGC, Genetic Counselor<br />Phone: 513-636-4474<br />Fax: 513-636-4373<br />Email: <a href="mailto:labgeneticcounselors@cchmc.org" target="_blank">labgeneticcounselors@cchmc.org</a></li><li>Jennifer Hopper, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor<br />Phone: 513-636-4474<br />Fax: 513-636-4373<br />Email: <a href="mailto:labgeneticcounselors@cchmc.org" target="_blank">labgeneticcounselors@cchmc.org</a></li><li>Amanda Rosenberg, MS, Certified Genetic counselor, CGC, Genetic Counselor<br />Phone: 513-636-4474<br />Fax: 513-636-4373<br />Email: <a href="mailto:labgeneticcounselors@cchmc.org" target="_blank">labgeneticcounselors@cchmc.org</a></li><li>Leandra Tolusso, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor<br />Phone: 513-636-4474<br />Email: <a href="mailto:LabGeneticCounselors@cchmc.org" target="_blank">LabGeneticCounselors@cchmc.org</a></li><li>Elizabeth Ulm, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor<br />Phone: 513-636-4474<br />Fax: 513-636-4373<br />Email: <a href="mailto:LabGeneticCounselors@cchmc.org" target="_blank">LabGeneticCounselors@cchmc.org</a></li><li>Emily Wakefield, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor<br />Phone: 513-636-4474<br />Fax: 513-636-4373<br />Email: <a href="mailto:LabGeneticCounselors@cchmc.org" target="_blank">LabGeneticCounselors@cchmc.org</a></li><li>Lori White, MS, Certified Genetic counselor, CGC, Genetic Counselor<br />Phone: 513-636-4474<br />Fax: 513-636-4373<br />Email: <a href="mailto:labgeneticcounselors@cchmcc.org" target="_blank">labgeneticcounselors@cchmcc.org</a></li></ul></div></div></div><div class="col six_col last" id="lab_col2"><div class="box"><h2 id="conditions-tests">Conditions and tests</h2><div class="lab_box_bd"><form name="filter_ds" id="filter_ds"><ul><li><strong><a href="/gtr/conditions/?from_lab_id=1237" ref="ncbi_uid=1237">1500 conditions/phenotypes</a></strong><strong> with <a href="/gtr/tests/?term=1237[ORGID]" ref="ncbi_uid=1237">1223 tests</a></strong></li><li class="filter_holder"><label class="ui-helper-hidden-accessible" for="filter_name">Enter text to narrow down the list</label><input class="text text_small" id="filter_name" name="filter_name" placeholder="Enter text to narrow down the list" type="text" value="" /></li></ul><ul class="li_magin_t1 " id="condition_list"><li><strong>11p partial monosomy syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0206115[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>3-Methylglutaconic aciduria type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0574083[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">8 tests</a></span></li><li><strong>3-methylglutaconic aciduria, type VIIB</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5676893[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>46,xx sex reversal 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5394441[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>46,XY sex reversal 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4015129[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>4p partial monosomy syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1956097[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>5p partial monosomy syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0010314[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>7q11.23 microduplication syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857844[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Acampomelic campomelic dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1861923[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Acampomelic campomelic dysplasia with autosomal sex reversal</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3549544[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Achondrogenesis type II</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0220685[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Acquired hemoglobin H disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0585216[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Acquired polycythemia vera</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0032463[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Acral peeling skin syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853354[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Acrocallosal syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796147[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Acrocephalosyndactyly type I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0001193[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Acrofacial dysostosis Cincinnati type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225317[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Acromicric dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265287[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Actin accumulation myopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3711389[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3278664[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Acute lymphoid leukemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023449[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Acute megakaryoblastic leukemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023462[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Acute myeloid leukemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023467[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">7 tests</a></span></li><li class="bg_blue"><strong>Acute promyelocytic leukemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023487[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Acyl-CoA dehydrogenase 9 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4747517[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Adams-Oliver syndrome 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014970[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Adrenoleukodystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162309[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Adult hypophosphatasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268413[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Adult polyglucosan body disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1849722[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>ADULT syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1863204[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Agammaglobulinemia 7, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554689[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Age related macular degeneration 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3495438[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Age related macular degeneration 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853147[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Agnathia-otocephaly complex</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265242[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Alagille syndrome due to a JAG1 point mutation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1956125[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Alagille syndrome due to a NOTCH2 point mutation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857761[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>ALDH18A1-related de Barsy syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5234852[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>ALG8 congenital disorder of glycosylation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931002[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Alpha thalassemia-X-linked intellectual disability syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845055[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Alpha-1-antitrypsin deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0221757[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Alpha-methylacyl-CoA racemase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280428[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Alstrom syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268425[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Alternating hemiplegia of childhood 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553788[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Alveolar capillary dysplasia with pulmonary venous misalignment</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2960310[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Ambiguous genitalia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0266362[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Amyloidosis, hereditary systemic 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751492[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Anauxetic dysplasia 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551965[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Andersen Tawil syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1563715[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Anemia, nonspherocytic hemolytic, due to G6PD deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2720289[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Aneurysm-osteoarthritis syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151087[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Angelman syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162635[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0406709[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Anophthalmia/microphthalmia-esophageal atresia syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1859773[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Anterior segment dysgenesis 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866560[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Anterior segment dysgenesis 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842031[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2936791[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Aortic aneurysm, familial thoracic 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4284414[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Aortic aneurysm, familial thoracic 11, susceptibility to</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4479235[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Aortic aneurysm, familial thoracic 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1851504[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Aortic aneurysm, familial thoracic 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2673186[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Aortic aneurysm, familial thoracic 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151077[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Aortic aneurysm, familial thoracic 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809513[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Aortic aneurysm, familial thoracic 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4015368[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>aortic root dilation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866956[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Aortic valve disease 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3887892[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Aortic valve disease 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3542024[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Arginine:glycine amidinotransferase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675179[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Arrhythmogenic cardiomyopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN280864[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Arrhythmogenic cardiomyopathy with wooly hair and keratoderma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1854063[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Arrhythmogenic right ventricular cardiomyopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0349788[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Arrhythmogenic right ventricular dysplasia 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1862511[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Arrhythmogenic right ventricular dysplasia 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857777[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Arrhythmogenic right ventricular dysplasia 11</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864850[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Arrhythmogenic right ventricular dysplasia 12</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1969081[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Arrhythmogenic right ventricular dysplasia 13</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3810138[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Arrhythmogenic right ventricular dysplasia 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832931[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Arrhythmogenic right ventricular dysplasia 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858379[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Arrhythmogenic right ventricular dysplasia 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1843896[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Arrhythmogenic right ventricular dysplasia 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836906[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Arterial tortuosity syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1859726[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Arthrogryposis, renal dysfunction, and cholestasis 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1859722[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Arthrogryposis, renal dysfunction, and cholestasis 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150672[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Ataxia-pancytopenia syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1327919[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Ataxia-telangiectasia syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0004135[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Atelosteogenesis type I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265283[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Atelosteogenesis type III</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3668942[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Atrial fibrillation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0004238[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Atrial fibrillation, familial, 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151464[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">8 tests</a></span></li><li><strong>Atrial fibrillation, familial, 11</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3279693[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Atrial fibrillation, familial, 12</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3279695[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Atrial fibrillation, familial, 15</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014269[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Atrial fibrillation, familial, 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837014[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Atrial fibrillation, familial, 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2677294[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Atrial fibrillation, familial, 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2677106[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Atrial fibrillation, familial, 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151431[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Atrial septal defect 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842778[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Atrial septal defect 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1969657[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Atrial septal defect 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2748552[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Atrial septal defect 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3276096[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Atrial septal defect 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280790[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Atrial septal defect 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280943[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Atrial standstill 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551959[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Atrial standstill 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3810401[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Atrioventricular block</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0004245[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Atrioventricular septal defect 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280781[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Atrioventricular septal defect 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280939[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Atrioventricular septal defect and common atrioventricular junction</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0344783[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Atrioventricular septal defect, susceptibility to, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853508[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Atypical hemolytic-uremic syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931788[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Atypical hemolytic-uremic syndrome with B factor anomaly</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2752038[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Atypical hemolytic-uremic syndrome with C3 anomaly</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2752037[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Atypical hemolytic-uremic syndrome with I factor anomaly</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2752039[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2752040[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Atypical hemolytic-uremic syndrome with thrombomodulin anomaly</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2752036[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Auditory neuropathy, autosomal recessive, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN315828[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Autism spectrum disorder</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1510586[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3279990[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4015214[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Autoimmune lymphoproliferative syndrome type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1328840[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">6 tests</a></span></li><li class="bg_blue"><strong>Autoimmune lymphoproliferative syndrome type 2A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858968[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Autoimmune lymphoproliferative syndrome type 2B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846545[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Autoimmune lymphoproliferative syndrome type 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2674723[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">8 tests</a></span></li><li><strong>Autoimmune lymphoproliferative syndrome, type 1a</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866119[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866120[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Autosomal dominant aplasia and myelodysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3808553[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Autosomal dominant distal renal tubular acidosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN280572[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2673195[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Autosomal dominant hypocalcemia 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342345[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Autosomal dominant nonsyndromic hearing loss 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1852282[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Autosomal dominant nonsyndromic hearing loss 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832476[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Autosomal dominant nonsyndromic hearing loss 11</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832475[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Autosomal dominant nonsyndromic hearing loss 13</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866095[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Autosomal dominant nonsyndromic hearing loss 17</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1863659[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Autosomal dominant nonsyndromic hearing loss 22</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931767[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Autosomal dominant nonsyndromic hearing loss 23</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1854594[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Autosomal dominant nonsyndromic hearing loss 36</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1847626[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Autosomal dominant nonsyndromic hearing loss 3A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675750[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Autosomal dominant nonsyndromic hearing loss 3B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675237[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Autosomal dominant optic atrophy classic form</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0338508[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Autosomal dominant osteopetrosis 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3179239[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Autosomal dominant palmoplantar keratoderma and congenital alopecia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4304669[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Autosomal recessive amelia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832432[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Autosomal recessive complex spastic paraplegia type 9B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5568980[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Autosomal recessive distal renal tubular acidosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864498[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Autosomal recessive limb-girdle muscular dystrophy type 2F</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832525[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Autosomal recessive limb-girdle muscular dystrophy type 2G</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866008[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Autosomal recessive limb-girdle muscular dystrophy type 2I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846672[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Autosomal recessive limb-girdle muscular dystrophy type 2J</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837342[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Autosomal recessive limb-girdle muscular dystrophy type 2M</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1969040[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Autosomal recessive limb-girdle muscular dystrophy type 2Q</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150989[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Autosomal recessive nonsyndromic hearing loss 12</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832394[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Autosomal recessive nonsyndromic hearing loss 16</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1863561[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Autosomal recessive nonsyndromic hearing loss 18A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1865870[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Autosomal recessive nonsyndromic hearing loss 1A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2673759[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Autosomal recessive nonsyndromic hearing loss 1B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675235[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Autosomal recessive nonsyndromic hearing loss 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1838701[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Autosomal recessive nonsyndromic hearing loss 23</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836027[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Autosomal recessive nonsyndromic hearing loss 31</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846839[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Autosomal recessive nonsyndromic hearing loss 37</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1843028[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Autosomal recessive nonsyndromic hearing loss 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3538946[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">7 tests</a></span></li><li><strong>Autosomal recessive nonsyndromic hearing loss 53</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864746[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Autosomal recessive nonsyndromic hearing loss 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832992[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Autosomal recessive nonsyndromic hearing loss 66</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857750[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Autosomal recessive nonsyndromic hearing loss 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832978[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Autosomal recessive nonsyndromic hearing loss 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832827[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Autosomal recessive nonsyndromic hearing loss 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832828[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Autosomal recessive osteopetrosis 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1850127[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Autosomal recessive osteopetrosis 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1969106[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Autosomal recessive polycystic kidney disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0085548[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Autosomal recessive proximal renal tubular acidosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1970309[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Autosomal recessive severe congenital neutropenia due to CSF3R deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310764[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751630[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014954[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Avascular necrosis of femoral head, primary, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551562[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Axenfeld-Rieger syndrome type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3714873[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Axenfeld-Rieger syndrome type 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2678503[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>B-cell chronic lymphocytic leukemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023434[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Bannayan-Riley-Ruvalcaba syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265326[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Baraitser-Winter syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1855722[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Baraitser-winter syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3281235[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Bardet-Biedl syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2936862[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Bardet-Biedl syndrome 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1859568[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Bardet-Biedl syndrome 13</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2673873[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Bardet-Biedl syndrome 15</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150127[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Bardet-Biedl syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2936863[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Bare lymphocyte syndrome type 2, complementation group A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1859534[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Bartter disease type 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846343[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Bartter disease type 4B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310805[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Basal laminar drusen</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0730295[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Beare-Stevenson cutis gyrata syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1852406[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Benign hereditary chorea</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0393584[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Benign recurrent intrahepatic cholestasis type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551899[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Benign recurrent intrahepatic cholestasis type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2608083[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Bent bone dysplasia syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3281247[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Bernard Soulier syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0005129[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Bernard-Soulier syndrome, type A2, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3277076[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Beta thalassemia intermedia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0472767[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Beta-thalassemia major</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0002875[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Beta-thalassemia-X-linked thrombocytopenia syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1839161[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Bifunctional peroxisomal enzyme deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342870[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Bile acid CoA ligase deficiency and defective amidation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4274079[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Bile acid malabsorption, primary, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5561934[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Bilirubin, serum level of, quantitative trait locus 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866173[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Blau syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5201146[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Bleeding disorder, platelet-type, 13, susceptibility to</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3279614[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Bleeding disorder, platelet-type, 21</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4479515[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Blepharophimosis - intellectual disability syndrome, MKB type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3698541[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Blepharophimosis - intellectual disability syndrome, SBBYS type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1863557[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Bloom syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0005859[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835813[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Bone fragility with contractures, arterial rupture, and deafness</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2676285[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Bone marrow failure syndrome 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310744[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Bone marrow failure syndrome 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4748257[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Bone marrow failure syndrome 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4748488[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Boomerang dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0432201[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Brachyolmia-amelogenesis imperfecta syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832594[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Brain small vessel disease 1 with or without ocular anomalies</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551998[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Brain-lung-thyroid syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1970269[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Branchiootic syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1865143[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Branchiootic syndrome 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842124[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Branchiootorenal syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551702[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Branchiootorenal syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1970479[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Breast-ovarian cancer, familial, susceptibility to, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2676676[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Breast-ovarian cancer, familial, susceptibility to, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675520[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Brittle cornea syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268344[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Bronchiectasis with or without elevated sweat chloride 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2749757[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Brown-Vialetto-van Laere syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796274[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Brown-Vialetto-van Laere syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553538[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Brugada syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1142166[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Brugada syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551804[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">8 tests</a></span></li><li><strong>Brugada syndrome 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2678478[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Brugada syndrome 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2678477[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Brugada syndrome 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751083[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>C3 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1332655[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Café-au-lait macules with pulmonary stenosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0553586[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Camptomelic dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1861922[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Candidiasis, familial, 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151405[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Capillary malformation-arteriovenous malformation 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4747394[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Cardiac anomalies - developmental delay - facial dysmorphism syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225208[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Cardiac arrhythmia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0003811[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Cardiac arrhythmia, ankyrin-B-related</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1970119[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Cardiac defects</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0741916[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832950[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5399977[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554534[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Cardiofaciocutaneous syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN029449[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Cardiofaciocutaneous syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809005[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Cardiofaciocutaneous syndrome 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809006[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Cardiofaciocutaneous syndrome 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809007[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Cardiomyopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0878544[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014393[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Cardiomyopathy, familial hypertrophic 27</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4748014[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Cardiomyopathy, familial restrictive, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1861861[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Cardiomyopathy, familial restrictive, 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2676271[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Carnitine acylcarnitine translocase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342791[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Carnitine palmitoyl transferase 1A deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1829703[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Carnitine palmitoyl transferase II deficiency, myopathic form</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1833508[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Carnitine palmitoyl transferase II deficiency, neonatal form</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1833518[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Carnitine palmitoyl transferase II deficiency, severe infantile form</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1833511[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Carnitine palmitoyltransferase II deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342790[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Carotid intimal medial thickness 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836302[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN118832[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Cataract 38</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553494[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Catecholaminergic polymorphic ventricular tachycardia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5574922[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Catecholaminergic polymorphic ventricular tachycardia 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1631597[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">7 tests</a></span></li><li class="bg_blue"><strong>Catecholaminergic polymorphic ventricular tachycardia 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2677794[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Catecholaminergic polymorphic ventricular tachycardia 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151463[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Catecholaminergic polymorphic ventricular tachycardia 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554047[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Catecholaminergic polymorphic ventricular tachycardia 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809536[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Catel-Manzke syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1844887[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Caveolinopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5679790[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>CBL-related disorder</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150803[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551768[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Cerebroretinal microangiopathy with calcifications and cysts 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4552029[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Cerebroretinal microangiopathy with calcifications and cysts 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4479220[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Cernunnos-XLF deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1969799[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>CFHR5 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553720[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Charcot-Marie-Tooth disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0007959[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Charcot-Marie-Tooth disease type 2B1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1854154[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Charcot-Marie-Tooth disease type 4G</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1854449[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Charcot-Marie-Tooth disease type 4K</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225246[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>CHARGE syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265354[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Childhood hypophosphatasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0220743[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Childhood onset GLUT1 deficiency syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842534[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837822[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Cholestanol storage disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0238052[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Cholestasis, intrahepatic, of pregnancy, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3549845[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Cholestasis, intrahepatic, of pregnancy, 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554241[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Cholestasis, progressive familial intrahepatic, 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931067[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Cholestasis, progressive familial intrahepatic, 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310747[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Cholesteryl ester storage disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0008384[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Chondrosarcoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0008479[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Chorea-acanthocytosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0393576[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Chromosome 13q trisomy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0795849[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Chronic familial neutropenia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3665676[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Chronic infantile neurological, cutaneous and articular syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0409818[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Chronic myelogenous leukemia, BCR-ABL1 positive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0279543[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Chronic pancreatitis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0149521[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>chronic recurrent pancreatitis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2074913[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Chédiak-Higashi syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0007965[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Ciliary dyskinesia, primary, 36, X-linked</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4478372[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Ciliary dyskinesia, primary, 37</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4539798[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Ciliary dyskinesia, primary, 38</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4748052[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Ciliary dyskinesia, primary, 39</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4748841[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Ciliary dyskinesia, primary, 40</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4749028[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Ciliary dyskinesia, primary, 41</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5193103[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Ciliopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4277690[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Citrullinemia type II</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1863844[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Classic homocystinuria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0751202[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Cleft lip/palate</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0158646[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Cleidocranial dysostosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0008928[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>CLOVES syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2752042[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>COACH syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5436837[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Cobalamin C disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1848561[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Coffin-Siris syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265338[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Cohen syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265223[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Combined immunodeficiency due to DOCK8 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4722305[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Combined immunodeficiency due to LRBA deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553512[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Combined immunodeficiency due to moesin deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5568123[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Combined immunodeficiency due to ORAI1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2748568[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Combined immunodeficiency due to STIM1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2748557[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Combined immunodeficiency due to STK4 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553943[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Combined immunodeficiency due to ZAP70 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5575025[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Combined immunodeficiency with skin granulomas</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2673536[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5436842[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5436847[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Combined oxidative phosphorylation defect type 11</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5190991[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Combined oxidative phosphorylation defect type 17</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809526[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Combined oxidative phosphorylation defect type 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4518839[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Combined pulmonary fibrosis-emphysema syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3872815[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Complement component 2 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150275[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Complement component 3 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151071[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Complement component 5 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0343047[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Complement component 7 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864694[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Complement factor b deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809950[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Cone-rod dystrophy 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858806[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Congenital afibrinogenemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2584774[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Congenital amegakaryocytic thrombocytopenia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1327915[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Congenital bilateral aplasia of vas deferens from CFTR mutation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0403814[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Congenital bile acid synthesis defect 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1843116[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Congenital bile acid synthesis defect 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1856127[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Congenital bile acid synthesis defect 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151147[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Congenital bile acid synthesis defect 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858328[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Congenital bile acid synthesis defect 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225390[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Congenital chromosomal disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0008626[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Congenital contractural arachnodactyly</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0220668[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Congenital dyserythropoietic anemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0002876[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Congenital dyserythropoietic anemia type 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150926[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Congenital dyserythropoietic anemia, type I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0271933[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">6 tests</a></span></li><li class="bg_blue"><strong>Congenital dyserythropoietic anemia, type II</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1306589[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Congenital dyserythropoietic anemia, type III</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5676874[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Congenital heart defects and skeletal malformations syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4539857[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Congenital heart defects, multiple types, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554279[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Congenital heart defects, multiple types, 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014310[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Congenital heart defects, multiple types, 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4693563[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Congenital heart defects, multiple types, 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151221[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Congenital heart disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0152021[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Congenital malabsorptive diarrhea 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835888[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Congenital microvillous atrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0341306[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Congenital muscular dystrophy due to LMNA mutation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750785[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Congenital myasthenic syndrome 16</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280112[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Congenital neutropenia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0340970[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Congenital neutropenia-myelofibrosis-nephromegaly syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809031[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Congenital nonspherocytic hemolytic anemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0002882[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Congenital plasminogen activator inhibitor type 1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750067[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Conotruncal anomaly face syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0795907[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Conotruncal heart malformations</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857586[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Cornelia de Lange syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551851[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Cortical dysplasia-focal epilepsy syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750246[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Cortisone reductase deficiency 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553382[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Costello syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0587248[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Cowden syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0018553[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Cowden syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN072330[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Cowden syndrome 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554518[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Coxopodopatellar syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1840061[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Cranioectodermal dysplasia 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150874[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Craniometaphyseal dysplasia, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931244[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Creatine transporter deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845862[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Crigler-Najjar syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5551003[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Crigler-Najjar syndrome type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0010324[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Crigler-Najjar syndrome, type II</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931132[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Crouzon syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0010273[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Curry-Hall syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0457013[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Cutis laxa, autosomal dominant 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3276539[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Cutis laxa, autosomal dominant 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280794[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Cutis laxa, autosomal dominant 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225268[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Cutis laxa, autosomal recessive, type 1A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5848058[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Cutis laxa, autosomal recessive, type 1B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280798[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Cyclical neutropenia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0221023[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Cystic fibrosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0010674[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5567651[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Danon disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0878677[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">6 tests</a></span></li><li><strong>Deafness, congenital heart defects, and posterior embryotoxon</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866053[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Deafness, digenic, GJB2/GJB6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2673760[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Deafness-lymphedema-leukemia syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3279664[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Defect of purinergic receptor p2y G protein-coupled 12</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4510945[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Deficiency of 3-hydroxyacyl-CoA dehydrogenase</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1291230[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Deficiency of acetyl-CoA acetyltransferase</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1536500[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Deficiency of bisphosphoglycerate mutase</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1291620[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Deficiency of butyryl-CoA dehydrogenase</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342783[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Deficiency of cytochrome-b5 reductase</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268193[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Deficiency of guanidinoacetate methyltransferase</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0574080[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Deficiency of hydroxymethylglutaryl-CoA lyase</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268601[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Deficiency of malonyl-CoA decarboxylase</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342793[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Dehydrated hereditary stomatocytosis 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225242[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551512[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>delta Thalassemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0271990[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Desmin-related myofibrillar myopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832370[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">6 tests</a></span></li><li><strong>Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN130018[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Developmental malformations-deafness-dystonia syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5848323[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Diamond-Blackfan anemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1260899[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">7 tests</a></span></li><li class="bg_blue"><strong>Diamond-Blackfan anemia 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2676137[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Diamond-Blackfan anemia 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750080[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Diamond-Blackfan anemia 11</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554042[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Diamond-Blackfan anemia 12</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809888[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Diamond-Blackfan anemia 13</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014641[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Diamond-Blackfan anemia 14 with mandibulofacial dysostosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225422[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Diamond-Blackfan anemia 15 with mandibulofacial dysostosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225411[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Diamond-Blackfan anemia 16</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4479424[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Diamond-Blackfan anemia 17</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4479428[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Diamond-Blackfan anemia 18</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5193020[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Diamond-Blackfan anemia 19</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5193021[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Diamond-Blackfan anemia 20</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5193022[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Diamond-Blackfan anemia 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857719[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Diamond-Blackfan anemia 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675860[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Diamond-Blackfan anemia 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675859[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Diamond-Blackfan anemia 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931850[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Diamond-Blackfan anemia 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675512[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Diamond-Blackfan anemia 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675511[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Diamond-Blackfan anemia 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750081[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Diamond-Blackfan anemia-like</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4693556[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Diaphragmatic hernia 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857781[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>DiGeorge syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0012236[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Dilated cardiomyopathy 1A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1449563[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">6 tests</a></span></li><li><strong>Dilated cardiomyopathy 1AA</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2677338[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Dilated cardiomyopathy 1BB</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2752072[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Dilated cardiomyopathy 1C</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832244[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Dilated cardiomyopathy 1CC</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751084[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Dilated cardiomyopathy 1D</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832243[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Dilated cardiomyopathy 1DD</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750995[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Dilated cardiomyopathy 1E</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832680[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">8 tests</a></span></li><li class="bg_blue"><strong>Dilated cardiomyopathy 1EE</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750466[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Dilated cardiomyopathy 1FF</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750091[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Dilated cardiomyopathy 1G</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858763[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Dilated cardiomyopathy 1GG</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150898[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Dilated cardiomyopathy 1HH</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151293[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Dilated cardiomyopathy 1I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858154[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Dilated cardiomyopathy 1II</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554649[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Dilated cardiomyopathy 1J</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1854368[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Dilated cardiomyopathy 1JJ</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3808935[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Dilated cardiomyopathy 1KK</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3714995[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Dilated cardiomyopathy 1L</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1847667[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Dilated cardiomyopathy 1M</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1843808[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Dilated cardiomyopathy 1NN</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014656[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Dilated cardiomyopathy 1O</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837839[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Dilated cardiomyopathy 1P</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835928[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Dilated cardiomyopathy 1R</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150681[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Dilated cardiomyopathy 1S</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1834481[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Dilated cardiomyopathy 1W</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1969639[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Dilated cardiomyopathy 1X</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1969024[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Dilated cardiomyopathy 1Y</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2678476[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Dilated cardiomyopathy 1Z</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2678475[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Dilated cardiomyopathy 2A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2678474[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Dilated cardiomyopathy 2B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553409[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Dilated cardiomyopathy 3B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3668940[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Dilated cardiomyopathy with left ventricular noncompaction</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853863[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796031[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Disorder due cytochrome p450 CYP2C19 variant</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN158544[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Disorder due cytochrome p450 CYP2D6 variant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837154[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Distal monosomy 10p</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832431[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Distal myopathy with posterior leg and anterior hand involvement</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3279722[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Distichiasis-lymphedema syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265345[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>DK1-congenital disorder of glycosylation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835849[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>DNA ligase IV deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1847827[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Dominant dystrophic epidermolysis bullosa with absence of skin</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268371[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Donnai-Barrow syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857277[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Double outlet right ventricle</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0013069[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Down syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0013080[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Drash syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0950121[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Duane-radial ray syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1623209[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Dubin-Johnson syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0022350[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Dyschromatosis universalis hereditaria 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809394[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Dyskeratosis congenita</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265965[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Dyskeratosis congenita, autosomal dominant 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551974[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Dyskeratosis congenita, autosomal dominant 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151443[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Dyskeratosis congenita, autosomal dominant 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151445[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Dyskeratosis congenita, autosomal dominant 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3808802[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Dyskeratosis congenita, autosomal dominant 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225284[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Dyskeratosis congenita, autosomal recessive 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857144[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Dyskeratosis congenita, autosomal recessive 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151441[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Dyskeratosis congenita, autosomal recessive 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151442[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Dyskeratosis congenita, autosomal recessive 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554656[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Dyskeratosis congenita, autosomal recessive 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225356[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Dyskeratosis congenita, X-linked</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1148551[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Dyslexia, susceptibility to, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1851967[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Dystonia 12</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1868681[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Dystonia 16</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2677567[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Dystonia 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832855[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Early repolarization associated with ventricular fibrillation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150852[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Early-onset myopathy with fatal cardiomyopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2673677[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>EAST syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2748572[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Ectodermal dysplasia and immunodeficiency 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2677481[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Ectopia lentis 1, isolated, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3541518[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Ectopia lentis 2, isolated, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3541474[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Ectopia lentis et pupillae</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1644196[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858562[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Eculizumab, poor response to</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3810402[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Ehlers-Danlos syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0013720[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Ehlers-Danlos syndrome due to tenascin-X deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1848029[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Ehlers-Danlos syndrome, arthrochalasia type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551623[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Ehlers-danlos syndrome, arthrochalasia type, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN293783[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Ehlers-Danlos syndrome, cardiac valvular type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4303789[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Ehlers-Danlos syndrome, classic type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225429[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Ehlers-Danlos syndrome, classic type, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268336[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Ehlers-Danlos syndrome, dermatosparaxis type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2700425[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Ehlers-Danlos syndrome, kyphoscoliotic type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268342[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Ehlers-Danlos syndrome, kyphoscoliotic type, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3281160[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Ehlers-Danlos syndrome, musculocontractural type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866294[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Ehlers-Danlos syndrome, musculocontractural type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN295219[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Ehlers-Danlos syndrome, spondylocheirodysplastic type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2676510[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Ehlers-Danlos syndrome, type 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268337[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Ehlers-Danlos syndrome, type 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268338[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Elliptocytosis 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2678497[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Elliptocytosis 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1851741[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Elliptocytosis 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866810[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Ellis-van Creveld syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0013903[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Emery-Dreifuss muscular dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0410189[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Emery-Dreifuss muscular dystrophy 2, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0410190[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Emery-Dreifuss muscular dystrophy 3, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750035[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Emery-Dreifuss muscular dystrophy 7, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553060[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Encephalopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0085584[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Encephalopathy due to GLUT1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551966[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225294[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Epidermolysis bullosa</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0014527[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">16 tests</a></span></li><li><strong>Epidermolysis bullosa dystrophica</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0079294[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Epidermolysis bullosa pruriginosa</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1275114[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Epidermolysis bullosa simplex</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0079298[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">10 tests</a></span></li><li class="bg_blue"><strong>Epidermolysis bullosa simplex 1C, localized</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0080333[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809470[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554367[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Epidermolysis bullosa simplex 5B, with muscular dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931072[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Epidermolysis bullosa simplex 5C, with pyloric atresia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2677349[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310631[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Epidermolysis bullosa simplex 7, with nephropathy and deafness</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836823[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Epidermolysis bullosa simplex due to plakophilin deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858302[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Epidermolysis bullosa simplex, Ogna type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0432317[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4518785[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Epilepsy, familial focal, with variable foci 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551983[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Epilepsy, idiopathic generalized, susceptibility to, 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2752062[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Epiphyseal dysplasia, multiple, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1838429[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Epiphyseal dysplasia, multiple, 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832998[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Erythrocytosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1527405[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Erythrocytosis, familial, 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853286[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Erythrocytosis, familial, 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2673187[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Erythrocytosis, familial, 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4693552[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Erythrokeratodermia variabilis et progressiva 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4479619[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN231723[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Exostoses, multiple, type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1851413[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Exudative vitreoretinopathy 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866176[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Fabry disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0002986[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Factor H deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0398777[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Factor VII deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0015503[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>FADD-related immunodeficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151062[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Familial acute necrotizing encephalopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675556[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Familial apolipoprotein C-II deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1720779[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Familial cancer of breast</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0346153[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Familial cold autoinflammatory syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2673198[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Familial cold autoinflammatory syndrome 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4015276[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3281203[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Familial erythrocytosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0152264[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Familial hemophagocytic lymphohistiocytosis 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1863727[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Familial hemophagocytic lymphohistiocytosis 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837174[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Familial hemophagocytic lymphohistiocytosis 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1863728[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Familial hemophagocytic lymphohistiocytosis 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751293[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Familial hypercholesterolemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0020445[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Familial hypocalciuric hypercalcemia 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342637[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Familial hypokalemia-hypomagnesemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268450[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Familial Mediterranean fever</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0031069[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Familial Mediterranean fever, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1851347[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Familial melanoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1512419[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Familial meningioma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3551915[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Familial partial lipodystrophy, Kobberling type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1720859[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Familial pulmonary capillary hemangiomatosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0340848[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Familial restrictive cardiomyopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0340429[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Familial thoracic aortic aneurysm and aortic dissection</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4707243[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Familial visceral amyloidosis, Ostertag type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268389[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Fanconi anemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0015625[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Fanconi anemia complementation group A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3469521[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Fanconi anemia complementation group B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845292[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Fanconi anemia complementation group C</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3468041[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Fanconi anemia complementation group D1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1838457[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Fanconi anemia complementation group D2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3160738[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Fanconi anemia complementation group E</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3160739[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Fanconi anemia complementation group F</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3469526[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Fanconi anemia complementation group G</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3469527[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Fanconi anemia complementation group I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836861[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Fanconi anemia complementation group J</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836860[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Fanconi anemia complementation group L</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3469528[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Fanconi anemia complementation group N</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835817[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Fanconi anemia complementation group O</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150653[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Fanconi anemia complementation group P</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3469542[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Fanconi anemia complementation group Q</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3808988[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Fanconi anemia complementation group R</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4284093[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Fanconi anemia complementation group T</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4084840[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Fanconi anemia complementation group U</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310651[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Fanconi anemia complementation group V</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310652[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Fanconi anemia, complementation group M</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3469529[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Fanconi anemia, complementation group S</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4554406[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Fanconi anemia, complementation group W</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4521564[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Fanconi renotubular syndrome 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3810100[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Fanconi-Bickel syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3495427[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Febrile seizures, familial, 3a</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751756[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Feingold syndrome type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551774[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Fetal and neonatal alloimmune thrombocytopenia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3854603[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Fetal growth restriction</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0015934[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Fetal hemoglobin quantitative trait locus 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1841621[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>FG syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5399762[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Fibrochondrogenesis 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3278138[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Fibrochondrogenesis 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3281128[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Floating-Harbor syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0729582[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Forebrain defects</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1861235[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Fragile X syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0016667[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Friedreich ataxia 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1856689[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Frontotemporal dementia and/or amyotrophic lateral sclerosis 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225325[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Fructose-biphosphatase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0016756[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Gallbladder disease 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1969115[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Gamma-glutamylcysteine synthetase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1856603[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>GATA binding protein 1 related thrombocytopenia with dyserythropoiesis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845837[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Gaucher disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0017205[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Geleophysic dysplasia 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280054[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Geleophysic dysplasia 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4540511[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Generalized dominant dystrophic epidermolysis bullosa</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0432322[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Generalized epilepsy with febrile seizures plus, type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858673[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Generalized juvenile polyposis/juvenile polyposis coli</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1868081[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Genitopatellar syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853566[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Ghosal hematodiaphyseal dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1856465[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Gilbert syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0017551[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Gilbert syndrome, susceptibility to</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4016425[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Glanzmann thrombasthenia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0040015[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Global developmental delay</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0557874[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Glucocorticoid deficiency 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4540522[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Glucose-6-phosphate transport defect</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268146[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">6 tests</a></span></li><li><strong>Glutathione synthetase deficiency without 5-oxoprolinuria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1856399[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Gluthathione peroxidase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0398747[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Glycogen storage disease due to glucose-6-phosphatase deficiency type IA</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2919796[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Glycogen storage disease due to muscle and heart glycogen synthase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1969054[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Glycogen storage disease due to muscle beta-enolase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2752027[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Glycogen storage disease due to phosphoglycerate kinase 1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1970848[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Glycogen storage disease IXa1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3694531[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Glycogen storage disease IXb</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0543514[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Glycogen storage disease IXc</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751643[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Glycogen storage disease IXd</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845151[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Glycogen storage disease type III</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0017922[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Glycogen storage disease type X</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268149[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Glycogen storage disease XV</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150754[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Glycogen storage disease, type II</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0017921[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Glycogen storage disease, type IV</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0017923[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Glycogen storage disease, type V</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0017924[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Glycogen storage disease, type VI</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0017925[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Glycogen storage disease, type VII</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0017926[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">6 tests</a></span></li><li><strong>Glycogen storage disorder due to hepatic glycogen synthase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1855861[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>GM1 gangliosidosis type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268272[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>GM1 gangliosidosis type 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268273[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Granulocytopenia with immunoglobulin abnormality</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1856263[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Granulomatous disease, chronic, X-linked</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1844376[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Gray platelet syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0272302[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Greig cephalopolysyndactyly syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265306[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Griscelli syndrome type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1868679[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Griscelli syndrome type 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836573[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Growth failure</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0878787[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Growth hormone insensitivity with immune dysregulation 1, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5435698[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Hajdu-Cheney syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0917715[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Hearing loss, autosomal dominant 37</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4760307[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Heart defect - tongue hamartoma - polysyndactyly syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857587[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Heart-hand syndrome, Slovenian type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857829[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Heimler syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551980[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Heimler syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225267[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Helicobacter pylori infection, susceptibility to</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1838332[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Hemochromatosis type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3469186[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Hemochromatosis type 2A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1865614[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Hemochromatosis type 2B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1865616[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Hemochromatosis type 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858664[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Hemochromatosis type 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853733[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Hemoglobin Bart hydrops syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0272005[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Hemoglobin H disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3161174[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Hemoglobin, high altitude adaptation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836778[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Hemolytic anemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0002878[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Hemolytic anemia due to adenylate kinase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675459[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Hemolytic anemia due to glucophosphate isomerase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150730[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Hemolytic anemia due to hexokinase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150343[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1849507[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Hemolytic uremic syndrome, atypical, susceptibility to</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1969906[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Hemolytic uremic syndrome, atypical, susceptibility to, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2749604[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Hemorrhage, intracerebral, susceptibility to</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3281105[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Hennekam lymphangiectasia-lymphedema syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4012050[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Hennekam lymphangiectasia-lymphedema syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014939[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Hepatitis B virus, susceptibility to</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864880[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Hereditary acrodermatitis enteropathica</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0221036[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Hereditary coproporphyria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162531[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Hereditary disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0019247[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Hereditary elliptocytosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0013902[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Hereditary factor IX deficiency disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0008533[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Hereditary factor XI deficiency disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0015523[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Hereditary fructosuria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0016751[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Hereditary hyperferritinemia with congenital cataracts</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1833213[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Hereditary Nephrotic Syndromes, Autosomal Recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN043613[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Hereditary pancreatitis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0238339[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">6 tests</a></span></li><li class="bg_blue"><strong>Hereditary spastic paraplegia 5A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1849115[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Hereditary spastic paraplegia 9A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5568978[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Hereditary spherocytosis type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2674218[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Hereditary spherocytosis type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2674219[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Hereditary spherocytosis type 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2678338[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Hereditary spherocytosis type 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675212[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Hereditary spherocytosis type 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675192[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Hereditary stomatocytosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1262483[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832388[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Hermansky-Pudlak syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931875[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Hermansky-Pudlak syndrome 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310746[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Hermansky-Pudlak syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842362[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Hermansky-Pudlak syndrome 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3888001[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Hermansky-Pudlak syndrome 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3484357[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Hermansky-Pudlak syndrome 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3279756[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Hermansky-Pudlak syndrome 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3888026[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Hermansky-Pudlak syndrome 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280026[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Herpes simplex encephalitis, susceptibility to, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750180[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Herpes simplex encephalitis, susceptibility to, 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553868[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Herpes simplex encephalitis, susceptibility to, 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553869[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Heterotaxy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0266642[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Heterotaxy, visceral, 1, X-linked</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1844020[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Heterotaxy, visceral, 2, autosomal</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1415817[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Heterotaxy, visceral, 4, autosomal</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151057[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Heterotaxy, visceral, 5, autosomal</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3495537[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Heterotaxy, visceral, 6, autosomal</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553676[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Heterotaxy, visceral, 7, autosomal</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225217[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Heterotaxy, visceral, 8, autosomal</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310668[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Heterotopia, periventricular, X-linked dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1848213[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Histiocytic medullary reticulosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2700553[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">7 tests</a></span></li><li class="bg_blue"><strong>HNSHA due to aldolase A deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0272066[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">6 tests</a></span></li><li><strong>Holt-Oram syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265264[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>HSD10 mitochondrial disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3266731[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Huntington disease-like 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1847987[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Hutchinson-Gilford syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0033300[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Hydrolethalus syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3279899[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Hyper-IgE recurrent infection syndrome 1, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2936739[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Hyper-IgM syndrome type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0398689[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Hypercalciuric hypercalcemia, familial, type I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832611[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Hypercholanemia, familial 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5542604[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">8 tests</a></span></li><li class="bg_blue"><strong>Hypercholanemia, familial, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5543243[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Hypercholesterolemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0020443[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Hyperimmunoglobulin D with periodic fever</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0398691[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Hyperinsulinemic hypoglycemia, familial, 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864948[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Hyperinsulinism-hyperammonemia syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1847555[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Hyperkalemic periodic paralysis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0238357[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Hyperlipidemia, familial combined, LPL related</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0020474[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Hyperlipoproteinemia, type I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023817[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Hyperlysinemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268553[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Hyperphenylalaninemia due to DNAJC12 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4479270[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Hypertrichotic osteochondrodysplasia Cantu type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0795905[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Hypertrophic cardiomyopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0007194[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Hypertrophic cardiomyopathy 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3495498[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Hypertrophic cardiomyopathy 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1834460[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Hypertrophic cardiomyopathy 11</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2677506[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Hypertrophic cardiomyopathy 12</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2677491[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Hypertrophic cardiomyopathy 13</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750472[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Hypertrophic cardiomyopathy 14</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750467[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Hypertrophic cardiomyopathy 15</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750459[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Hypertrophic cardiomyopathy 16</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151204[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Hypertrophic cardiomyopathy 17</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151264[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Hypertrophic cardiomyopathy 18</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151265[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Hypertrophic cardiomyopathy 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1861864[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Hypertrophic cardiomyopathy 20</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151267[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Hypertrophic cardiomyopathy 25</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225408[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Hypertrophic cardiomyopathy 26</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310749[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Hypertrophic cardiomyopathy 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1861863[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Hypertrophic cardiomyopathy 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1861862[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Hypertrophic cardiomyopathy 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1833236[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Hypertrophic cardiomyopathy 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1860752[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Hypertrophic cardiomyopathy 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837471[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Hypertrophic cardiomyopathy 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1861065[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Hypogonadotropic hypogonadism 1 with or without anosmia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1563719[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Hypogonadotropic hypogonadism 5 with or without anosmia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3552553[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Hypohidrotic X-linked ectodermal dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162359[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Hypokalemic periodic paralysis, type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3714580[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Hypokalemic periodic paralysis, type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750061[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Hypomyelinating leukodystrophy 11</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225305[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Hypoplastic left heart syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551854[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Hypoplastic left heart syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280795[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846582[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Hypothyroidism, congenital, nongoitrous, 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2673630[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Hypotonia, infantile, with psychomotor retardation and characteristic facies 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5567480[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Hypotrichosis 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1840299[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>IFAP syndrome 1, with or without BRESHECK syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5399971[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Immunodeficiency 104</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5676890[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">11 tests</a></span></li><li class="bg_blue"><strong>Immunodeficiency 14</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3714976[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Immunodeficiency 18</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3810127[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency 18, severe combined immunodeficiency variant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3810128[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Immunodeficiency 19</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3810147[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency 23</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014371[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Immunodeficiency 25</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857798[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Immunodeficiency 27A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4011949[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Immunodeficiency 31B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151088[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency 35</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1969086[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Immunodeficiency 49</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310656[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Immunodeficiency 64</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5231402[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Immunodeficiency 66</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5394265[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Immunodeficiency 67</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1843256[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Immunodeficiency 83, susceptibility to viral infections</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751803[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency due to ficolin3 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151226[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Immunodeficiency, common variable, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3149378[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency, common variable, 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809991[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Immunodeficiency, common variable, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150354[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency, common variable, 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150738[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Immunodeficiency, common variable, 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150739[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency, common variable, 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150740[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Immunodeficiency, common variable, 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150741[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Immunodeficiency, common variable, 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3542922[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Immunoglobulin A deficiency 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836032[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Immunoglobulin-mediated membranoproliferative glomerulonephritis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554330[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Inborn disorder of bile acid synthesis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0400973[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Inborn error of immunity</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0398686[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551951[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Infantile cortical hyperostosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0020497[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Infantile GM1 gangliosidosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268271[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Infantile hypophosphatasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268412[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Infantile liver failure</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5681094[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Infantile nephronophthisis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1865872[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Inflammatory bowel disease 25</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675508[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Inflammatory bowel disease 28</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751053[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Inherited glutathione synthetase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN030166[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Insomnia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0917801[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Insulin-dependent diabetes mellitus secretory diarrhea syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342288[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4748152[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Intellectual disability</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3714756[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Intellectual disability, autosomal recessive 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1970199[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Intellectual disability-hypotonic facies syndrome, X-linked, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4759781[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Intervertebral disc disease, susceptibility to</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4015963[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Invasive pneumococcal disease, recurrent isolated</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN228622[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Ischemic stroke</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0948008[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Isolated neonatal sclerosing cholangitis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4479344[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Jackson-Weiss syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0795998[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Jervell and Lange-Nielsen syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551509[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Jervell and Lange-Nielsen syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2676723[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Johanson-Blizzard syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0175692[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Joint laxity, short stature, and myopia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4540020[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Joubert syndrome 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2749019[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Joubert syndrome 18</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553758[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Joubert syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842577[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Joubert syndrome 20</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554235[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Joubert syndrome 24</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4084841[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Joubert syndrome 28</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310705[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Joubert syndrome 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2676788[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Joubert syndrome with renal defect</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846790[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Junctional epidermolysis bullosa</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0079301[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Junctional epidermolysis bullosa gravis of Herlitz</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0079683[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">6 tests</a></span></li><li><strong>Junctional epidermolysis bullosa with pyloric atresia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5676875[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Junctional epidermolysis bullosa, non-Herlitz type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268374[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">9 tests</a></span></li><li><strong>Juvenile myelomonocytic leukemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0349639[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832942[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Kallikrein, decreased urinary activity of</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835808[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Kartagener syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551906[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Keratosis follicularis spinulosa decalvans, X-linked</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3887525[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Keratosis palmoplantaris striata 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1852127[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Keutel syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1855607[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Kindler syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0406557[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Klinefelter syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0022735[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Kniest dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265279[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Kostmann syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5235141[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>L-ferritin deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3810090[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Langer mesomelic dysplasia syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0432230[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Langereis blood group</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3276339[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Langerhans cell histiocytosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0019621[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Larsen syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0175778[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Larsen-like syndrome, B3GAT3 type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3278404[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Laryngo-onycho-cutaneous syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1328355[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Lateral meningocele syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1851710[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Lazy leukocyte syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0272174[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Leaky severe combined immune deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN262220[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Left ventricular noncompaction</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1960469[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Left ventricular noncompaction 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858725[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Left ventricular noncompaction 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3715165[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Left ventricular noncompaction 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554496[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Left ventricular noncompaction 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809288[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Legg-Calve-Perthes disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1442965[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Legius syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1969623[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Leigh syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931891[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>LEOPARD syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551484[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>LEOPARD syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1969056[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>LEOPARD syndrome 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150971[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Leri-Weill dyschondrosteosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265309[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Lethal acantholytic epidermolysis bullosa</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864826[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Lethal congenital glycogen storage disease of heart</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1849813[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Lethal tight skin contracture syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0406585[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Leukemia, acute lymphoblastic, susceptibility to, 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809874[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Leukocyte adhesion deficiency 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2748536[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Leukoencephalopathy, progressive, with ovarian failure</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014588[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Levy-Hollister syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265269[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Lhermitte-Duclos disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0391826[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Li-Fraumeni syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835398[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Limb-mammary syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1863753[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Lissencephaly due to LIS1 mutation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4749301[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Loeys-Dietz syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2697932[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Loeys-Dietz syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551955[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Loeys-Dietz syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2674574[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Loeys-Dietz syndrome 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553762[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3711645[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Long QT syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023976[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Long QT syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551647[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Long QT syndrome 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2678484[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Long QT syndrome 11</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2678483[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Long QT syndrome 12</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751830[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Long QT syndrome 13</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150733[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Long QT syndrome 14</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4015671[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Long QT syndrome 15</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4015695[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Long QT syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150943[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Long QT syndrome 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1859062[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">8 tests</a></span></li><li class="bg_blue"><strong>Long QT syndrome 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1867904[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Long QT syndrome 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150953[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Long qt syndrome 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN260585[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Long QT syndrome 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2678485[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Lucey-Driscoll syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0270210[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Lumbar disk herniation, susceptibility to</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2676840[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Lung disease, immunodeficiency, and chromosome breakage syndrome;</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310653[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Lymphoproliferative syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3552634[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Lymphoproliferative syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554540[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Lysinuric protein intolerance</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268647[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Lysosomal acid lipase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5574740[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Macrocephaly-autism syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1854416[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Macroglobulinemia, Waldenstrom, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835192[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5200934[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Macrothrombocytopenia, isolated, 1, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5676892[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225222[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Macular degeneration, age-related, 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837187[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Majeed syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864997[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Mandibuloacral dysplasia with type A lipodystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5399785[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Mandibuloacral dysplasia with type B lipodystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837756[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Mandibulofacial dysostosis with alopecia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225349[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Mandibulofacial dysostosis-microcephaly syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864652[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Marfan syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0024796[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Marshall syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265235[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>MASS syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858556[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Maturity onset diabetes mellitus in young</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342276[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Maturity-onset diabetes of the young type 14</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225299[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Maturity-onset diabetes of the young type 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1838100[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Maturity-onset diabetes of the young type 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1833382[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Maturity-onset diabetes of the young type 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853297[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>McKusick-Kaufman syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0948368[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>McLeod neuroacanthocytosis syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0398568[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Meckel syndrome, type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3714506[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Meckel syndrome, type 11</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809352[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Meckel syndrome, type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864148[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Meckel syndrome, type 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2676790[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Meckel syndrome, type 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3836857[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Medium-chain acyl-coenzyme A dehydrogenase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0220710[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Meester-Loeys syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310811[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4012727[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>MEGF8-related Carpenter syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554247[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Melanoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0025202[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4015293[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Menke-Hennekam syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5193034[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Metachondromatosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0410530[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Metaphyseal chondrodysplasia, McKusick type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0220748[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Metaphyseal dysplasia without hypotrichosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1834821[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>METHEMOGLOBINEMIA, TYPE I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2749559[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>METHEMOGLOBINEMIA, TYPE II</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2749560[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Methylmalonic acidemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268583[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Mevalonic aciduria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1959626[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>MHC class I deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858266[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>MHC class II deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5447452[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">9 tests</a></span></li><li><strong>Microangiopathy and leukoencephalopathy, pontine, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5231411[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Microcephalic osteodysplastic primordial dwarfism type II</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0432246[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Microcephaly, normal intelligence and immunodeficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0398791[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Microcytic anemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5194182[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Microphthalmia with brain and digit anomalies</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864689[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Microphthalmia, isolated, with coloboma 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3281027[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Microvascular complications of diabetes, susceptibility to, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675471[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Migraine, familial hemiplegic, 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1864987[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Migraine, resistance to</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4016030[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Miller Dieker syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265219[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Miller syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265257[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>MIRAGE syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4284088[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Mirror movements 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3281089[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Mitochondrial complex 1 deficiency, nuclear type 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4748768[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Mitochondrial complex I deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1838979[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Mitochondrial complex II deficiency, nuclear type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5700310[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Mitochondrial DNA Deletion Syndromes</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN043632[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310676[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809443[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5191055[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1850406[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4749921[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Mitochondrial non-syndromic sensorineural hearing loss</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151897[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Mitochondrial trifunctional protein deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1969443[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">6 tests</a></span></li><li><strong>Monocytopenia with susceptibility to infections</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280030[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>MPI-congenital disorder of glycosylation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1865145[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>MTHFR THERMOLABILE POLYMORPHISM</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1856059[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Mucopolysaccharidosis, MPS-II</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0026705[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Mucopolysaccharidosis, MPS-IV-B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0086652[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Multiple acyl-CoA dehydrogenase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268596[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">8 tests</a></span></li><li><strong>Multiple congenital anomalies</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0000772[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Multiple congenital exostosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0015306[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Multiple cutaneous and mucosal venous malformations</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1838437[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Multiple epiphyseal dysplasia, Al-Gazali type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846722[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Multiple gastrointestinal atresias</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0220744[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Multiple mitochondrial dysfunctions syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3276432[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Multisystemic smooth muscle dysfunction syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151201[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0410174[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150413[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751052[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Muscular dystrophy-dystroglycanopathy type B5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1847759[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Mycobacterium tuberculosis, susceptibility to</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1834752[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Myelodysplastic syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3463824[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>MYH7-related skeletal myopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4552004[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>MYH9-related disorder</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1854520[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Myhre syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796081[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Myoclonic dystonia 11</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1834570[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Myofibrillar myopathy 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837317[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Myofibrillar myopathy 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836050[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Myofibrillar myopathy 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751831[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Myoglobinuria, acute recurrent, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1849386[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Myopathy, centronuclear, 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014814[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Myopathy, myofibrillar, 9, with early respiratory failure</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1863599[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Myopathy, myosin storage, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1850709[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Myopathy, reducing body, X-linked, childhood-onset</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225159[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Myopathy, reducing body, X-linked, early-onset, severe</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225423[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Myopathy, tubular aggregate, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4011726[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Myopia 28, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5676935[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Myopia 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837148[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Myosin storage myopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842160[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>MYPN-related myopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4479186[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Nager syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265245[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Namaqualand hip dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0432214[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Naxos disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832600[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Neonatal ichthyosis-sclerosing cholangitis syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1843355[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Neonatal intrahepatic cholestasis due to citrin deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853942[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Neonatal severe primary hyperparathyroidism</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832615[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Nephroblastoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0027708[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Nephronophthisis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0687120[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Nephronophthisis 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1855681[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Nephronophthisis 16</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809320[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Nephronophthisis 19</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4015542[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Nephronophthisis 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858392[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Nephronophthisis 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1847013[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Nephropathic cystinosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931187[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Nephrotic syndrome, type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1868672[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Neurofibromatosis, familial spinal</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1834235[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Neurofibromatosis, type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0027831[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Neurofibromatosis, type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0027832[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Neurofibromatosis-Noonan syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931482[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Neurogenic scapuloperoneal syndrome, Kaeser type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1867005[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Neuronal ceroid lipofuscinosis 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1850442[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Neutropenia, severe congenital, 1, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1859966[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Neutropenia, severe congenital, 2, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751288[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Neutropenia, severe congenital, 8, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5203411[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Neutrophil immunodeficiency syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842398[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Niemann-Pick disease, type A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268242[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Niemann-Pick disease, type B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268243[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Niemann-Pick disease, type C1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3179455[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Niemann-Pick disease, type C1, juvenile form</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4017106[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Niemann-Pick disease, type C2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1843366[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Nonpapillary renal cell carcinoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN074294[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Noonan syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0028326[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Noonan syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551602[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Noonan syndrome 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225280[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Noonan syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1854469[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Noonan syndrome 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1860991[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Noonan syndrome 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853120[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Noonan syndrome 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1969057[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Noonan syndrome 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750732[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Noonan syndrome 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150970[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Noonan syndrome 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809233[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Noonan syndrome 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225282[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Noonan syndrome-like disorder with loose anagen hair 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4478716[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Noonan syndrome-like disorder with loose anagen hair 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4479577[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Noonan-like syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1834120[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>NPHP3-related Meckel-like syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2673885[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Obesity</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0028754[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Oculodentodigital dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0812437[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Oculodentodigital dysplasia, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2749477[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Oculofaciocardiodental syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846265[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Oculootoradial syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1327918[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Odontohypophosphatasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1840322[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Olmsted syndrome, X-linked</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3806745[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3276549[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Orofacial cleft 11</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2677434[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Orofacial cleft 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1851878[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Orofacial-digital syndrome IV</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0406727[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Orofaciodigital syndrome I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1510460[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Orofaciodigital syndrome type 14</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4706604[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Osteogenesis imperfecta type I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0023931[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Osteogenesis imperfecta type III</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268362[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Osteogenesis imperfecta with normal sclerae, dominant form</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268363[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Osteogenesis imperfecta, perinatal lethal</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268358[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Osteopetrosis with renal tubular acidosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0345407[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Osteoporosis with pseudoglioma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0432252[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Oto-palato-digital syndrome, type I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265251[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Oto-palato-digital syndrome, type II</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1844696[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Otospondylomegaepiphyseal dysplasia, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1848488[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Otospondylomegaepiphyseal dysplasia, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5551484[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Pallister-Hall syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265220[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Pancreatic agenesis 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3891828[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Pancreatic hypoplasia-diabetes-congenital heart disease syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931296[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Pancytopenia due to IKZF1 mutations</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225173[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Pancytopenia-developmental delay syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3810350[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Papillary thyroid carcinoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0238463[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Paramyotonia congenita of Von Eulenburg</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0221055[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3807567[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Peeling skin syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1849193[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Pendred syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0271829[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Periodic fever-infantile enterocolitis-autoinflammatory syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4015067[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Peroxisome biogenesis disorder</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832200[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Peroxisome biogenesis disorder 10A (Zellweger)</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553999[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Peroxisome biogenesis disorder 10B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4479254[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Peroxisome biogenesis disorder 11A (Zellweger)</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554000[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Peroxisome biogenesis disorder 11B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554001[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Peroxisome biogenesis disorder 12A (Zellweger)</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554002[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Peroxisome biogenesis disorder 13A (Zellweger)</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554004[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Peroxisome biogenesis disorder 14B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554055[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Peroxisome biogenesis disorder 1A (Zellweger)</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4721541[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Peroxisome biogenesis disorder 1B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0282527[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Peroxisome biogenesis disorder 2A (Zellweger)</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3550273[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Peroxisome biogenesis disorder 2B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3550234[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Peroxisome biogenesis disorder 3A (Zellweger)</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553929[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Peroxisome biogenesis disorder 4A (Zellweger)</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553936[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Peroxisome biogenesis disorder 4B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553937[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Peroxisome biogenesis disorder 5A (Zellweger)</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553940[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Peroxisome biogenesis disorder 5B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3542026[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Peroxisome biogenesis disorder 6A (Zellweger)</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553947[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Peroxisome biogenesis disorder 6B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553948[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Peroxisome biogenesis disorder 7A (Zellweger)</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3888385[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Peroxisome biogenesis disorder 7B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553951[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Peroxisome biogenesis disorder 8A (Zellweger)</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553959[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Peroxisome biogenesis disorder 8B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553960[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Peroxisome biogenesis disorder 9B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2749346[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Perrault syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551721[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Persistent fetal circulation syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0031190[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Pfeiffer syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0220658[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>PGM1-congenital disorder of glycosylation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2752015[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Pheochromocytoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0031511[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Phosphate transport defect</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342749[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Phosphoenolpyruvate carboxykinase deficiency, cytosolic</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5574905[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Phosphoenolpyruvate carboxykinase deficiency, mitochondrial</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1849821[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Pigmentary pallidal degeneration</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0018523[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Pituitary dependent hypercortisolism</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0221406[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Plasminogen deficiency, type I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1968804[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4540232[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Platelet disorder, undefined</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1868258[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Platelet-type bleeding disorder 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842090[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Platelet-type bleeding disorder 15</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554663[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Platelet-type bleeding disorder 16</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5442010[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Platelet-type bleeding disorder 17</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1861194[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Platelet-type bleeding disorder 18</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014584[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Platelet-type bleeding disorder 19</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4015405[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Platelet-type bleeding disorder 20</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310797[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Platelet-type bleeding disorder 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853278[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Platyspondylic dysplasia, Torrance type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835437[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Poikiloderma with neutropenia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858723[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>POLG-related disorder</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN180166[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Polycystic kidney disease 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751306[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Polycystic kidney disease 3 with or without polycystic liver disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3887964[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Polycystic kidney disease 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4540575[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Polycystic kidney disease 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4539903[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Polycystic kidney disease 6 with or without polycystic liver disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4748044[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Polycystic liver disease 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0887850[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Polycystic liver disease 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310769[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Polycystic liver disease 3 with or without kidney cysts</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4693472[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Polycystic liver disease 4 with or without kidney cysts</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4693479[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Polydactyly, postaxial, type A1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4282400[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Polyglandular autoimmune syndrome, type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0085859[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Polyglucosan body myopathy type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4015452[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Polysyndactyly 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1868111[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Porokeratosis 3, disseminated superficial actinic type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1867981[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Postmenopausal osteoporosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0029458[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Potassium-aggravated myotonia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931826[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>PPARG-related familial partial lipodystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1720861[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Prader-Willi syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0032897[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Predisposition to invasive fungal disease due to CARD9 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1859353[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Preeclampsia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0032914[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Prekallikrein deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0272339[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Pretibial dystrophic epidermolysis bullosa</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0432321[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Primary CD59 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2676767[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Primary ciliary dyskinesia 10</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675867[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Primary ciliary dyskinesia 11</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675229[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Primary ciliary dyskinesia 12</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675228[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Primary ciliary dyskinesia 13</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750790[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Primary ciliary dyskinesia 14</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151136[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Primary ciliary dyskinesia 15</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151137[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Primary ciliary dyskinesia 16</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151460[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Primary ciliary dyskinesia 17</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3542550[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Primary ciliary dyskinesia 18</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3543825[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Primary ciliary dyskinesia 19</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3543826[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Primary ciliary dyskinesia 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1847554[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Primary ciliary dyskinesia 20</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3540844[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Primary ciliary dyskinesia 21</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809087[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Primary ciliary dyskinesia 22</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809543[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Primary ciliary dyskinesia 23</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809548[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Primary ciliary dyskinesia 24</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809634[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Primary ciliary dyskinesia 25</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809641[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Primary ciliary dyskinesia 26</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809684[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Primary ciliary dyskinesia 27</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809701[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Primary ciliary dyskinesia 28</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809706[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Primary ciliary dyskinesia 29</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014534[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Primary ciliary dyskinesia 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837618[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Primary ciliary dyskinesia 30</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4015016[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Primary ciliary dyskinesia 32</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225311[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Primary ciliary dyskinesia 33</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225230[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Primary ciliary dyskinesia 34</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310722[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Primary ciliary dyskinesia 35</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310721[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Primary ciliary dyskinesia 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837615[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Primary ciliary dyskinesia 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1970506[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Primary ciliary dyskinesia 7</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2678473[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Primary ciliary dyskinesia 9</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2676235[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Primary dilated cardiomyopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0007193[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">9 tests</a></span></li><li><strong>Primary familial hypertrophic cardiomyopathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0949658[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">6 tests</a></span></li><li class="bg_blue"><strong>Primary familial polycythemia due to EPO receptor mutation</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551637[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Primary hyperoxaluria type 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150878[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Primary hyperoxaluria, type I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268164[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Primary hyperoxaluria, type II</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268165[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Primary immunodeficiency syndrome due to p14 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1835829[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Primary myelofibrosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0001815[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Primary sclerosing cholangitis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0566602[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Progeroid and marfanoid aspect-lipodystrophy syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4310796[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Progressive bulbar palsy of childhood</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0015708[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Progressive encephalopathy with leukodystrophy due to DECR deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1857252[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Progressive external ophthalmoplegia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162674[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Progressive familial heart block, type 1A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1879286[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Progressive familial intrahepatic cholestasis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268312[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Progressive familial intrahepatic cholestasis type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551898[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Progressive familial intrahepatic cholestasis type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3489789[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Progressive familial intrahepatic cholestasis type 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1865643[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5567650[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Progressive sclerosing poliodystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0205710[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Prolactin-producing pituitary gland adenoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0033375[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Properdin deficiency, X-linked</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1839454[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Propionic acidemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268579[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Prostate cancer, hereditary, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3539120[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Protein-losing enteropathy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0033680[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Proximal myopathy with extrapyramidal signs</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3810285[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Pseudo von Willebrand disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1280798[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Pulmonary arterial hypertension</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2973725[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3553617[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225347[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Pulmonary fibrosis-emphysema</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN262305[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Pulmonary hypertension, primary, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4552070[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Pulmonary hypertension, primary, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3888002[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Pulmonary hypertension, primary, 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809192[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Pulmonary hypertension, primary, 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809198[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Pulmonary venoocclusive disease 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3887658[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Purine-nucleoside phosphorylase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268125[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Pyogenic arthritis-pyoderma gangrenosum-acne syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858361[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Pyogenic bacterial infections due to MyD88 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2677092[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Pyropoikilocytosis, hereditary</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0520739[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Pyruvate carboxylase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0034341[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Pyruvate kinase deficiency of red cells</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0340968[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Pyruvate kinase hyperactivity</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1863224[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Radial aplasia-thrombocytopenia syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0175703[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Radioulnar synostosis with amegakaryocytic thrombocytopenia 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551975[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Radioulnar synostosis with amegakaryocytic thrombocytopenia 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225221[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>RASGRP1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN262234[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Recessive dystrophic epidermolysis bullosa</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0079474[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5567524[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Recurrent Neisseria infections due to factor D deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0398764[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Reduced generation of multiple motile cilia (RGMC)</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN280866[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Renal carnitine transport defect</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342788[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Renal cysts and diabetes syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0431693[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Renal tubular acidosis with progressive nerve deafness</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0403554[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Renal tubular acidosis, distal, 4, with hemolytic anemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5436235[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Renal-hepatic-pancreatic dysplasia 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3715199[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Renal-hepatic-pancreatic dysplasia 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809434[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Renpenning syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796135[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Reticular dysgenesis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0272167[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Retinal arterial tortuosity</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0423401[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Retinal dystrophy with leukodystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5394315[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Retinitis pigmentosa 19</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866422[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Retinitis pigmentosa 23</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1419610[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Retinitis pigmentosa 39</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3151138[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Retinitis pigmentosa 61</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280041[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Retinitis pigmentosa 74</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225281[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Retinoblastoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0035335[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Rett syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0035372[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Revesz syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1327916[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Rh-null, regulator type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1849387[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Rhabdoid tumor predisposition syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750074[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Rhizomelic chondrodysplasia punctata type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1859133[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Rhizomelic chondrodysplasia punctata type 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225237[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>RIDDLE syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2677792[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Rienhoff syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3810012[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Right atrial isomerism</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3178806[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Robinow-Sorauf syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1867146[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Rubinstein-Taybi syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0035934[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Rubinstein-Taybi syndrome due to CREBBP mutations</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551859[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Rubinstein-Taybi syndrome due to EP300 haploinsufficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150941[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Saethre-Chotzen syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0175699[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Schimke immuno-osseous dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0877024[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Schuurs-Hoeijmakers syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3554343[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>SCOTT SYNDROME</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796149[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Seborrheic keratosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0022603[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Seckel syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551474[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Sengers syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1859317[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Senior-Loken syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551559[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1843851[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Severe combined immunodeficiency disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0085110[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Severe combined immunodeficiency due to CD70 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5568559[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Severe combined immunodeficiency due to CORO1A deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809383[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Severe combined immunodeficiency due to CTPS1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014617[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Severe combined immunodeficiency due to DCLRE1C deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1865370[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Severe combined immunodeficiency due to DNA-PKcs deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014833[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Severe combined immunodeficiency due to LAT deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4479588[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Severe combined immunodeficiency due to LCK deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014233[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1863236[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832322[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Severe congenital neutropenia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1853118[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Severe early-childhood-onset retinal dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1855465[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Severe myoclonic epilepsy in infancy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0751122[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Severe neonatal-onset encephalopathy with microcephaly</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1968556[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Short QT syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2348199[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Short QT syndrome type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1865020[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Short QT syndrome type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1865019[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Short QT syndrome type 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1865018[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>SHORT syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0878684[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Short-rib thoracic dysplasia 7 with or without polydactyly</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3279792[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>SHOX-related short stature</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845118[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Shprintzen-Goldberg syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1321551[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Shwachman syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0272170[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Shwachman-Diamond syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4692625[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li><strong>Shwachman-Diamond syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4693704[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Sick sinus syndrome 2, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1834144[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Sideroblastic anemia 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225425[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Simpson-Golabi-Behmel syndrome type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796154[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Simpson-Golabi-Behmel syndrome type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846175[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Sitosterolemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342907[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">7 tests</a></span></li><li><strong>SMARCB1-related schwannomatosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4048809[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Smith-Lemli-Opitz syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0175694[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Smith-Magenis syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0795864[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Sneddon syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0282492[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Somatotroph adenoma</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4538355[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Sotos syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0175695[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Southeast Asian ovalocytosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1862322[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Specific granule deficiency 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4479548[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Spermatogenic failure 18</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4539783[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Spermatogenic failure 27</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4693784[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Spermatogenic failure 46</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5436799[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Spinal muscular atrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0026847[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Spinocerebellar ataxia type 27</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836383[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Split hand-foot malformation 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1854442[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Spondylocarpotarsal synostosis syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1848934[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Spondylocostal dysostosis 4, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150942[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Spondyloepimetaphyseal dysplasia, Strudwick type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0700635[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Spondyloepiphyseal dysplasia congenita</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2745959[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Spondyloepiphyseal dysplasia with metatarsal shortening</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836683[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Spondyloepiphyseal dysplasia, Stanescu type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4225273[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Spondyloperipheral dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796173[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>STAT3-related early-onset multisystem autoimmune disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014795[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Sterol carrier protein 2 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150990[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Stickler syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0265253[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Stickler syndrome type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2020284[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Stickler syndrome type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1858084[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Stickler syndrome, type 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3279941[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Stickler syndrome, type 6</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5774207[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Stickler syndrome, type I, nonsyndromic ocular</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1836080[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Stiff skin syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1861456[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>STING-associated vasculopathy with onset in infancy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014722[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Storage pool disease of platelets</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0032197[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Stormorken syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1861451[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Stromme syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1855705[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Succinyl-CoA acetoacetate transferase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342792[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Sucrase-isomaltase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1283620[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>SUDDEN INFANT DEATH SYNDROME</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0038644[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Supravalvar aortic stenosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0003499[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Sweeney-Cox syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4540299[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Syndactyly type 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1861366[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Syndromic X-linked intellectual disability Lubs type</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846058[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>T-B+ severe combined immunodeficiency due to JAK3 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1833275[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>T-cell immunodeficiency, congenital alopecia, and nail dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866426[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Tacrolimus response</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3547403[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>TARP syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1839463[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Tatton-Brown-Rahman overgrowth syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014545[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Telangiectasia, hereditary hemorrhagic, type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551861[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Telangiectasia, hereditary hemorrhagic, type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1838163[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Telangiectasia, hereditary hemorrhagic, type 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809710[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Testicular anomalies with or without congenital heart disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809858[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Tetralogy of Fallot</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0039685[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">10 tests</a></span></li><li class="bg_blue"><strong>Thalassemia minor</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0869532[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Thoracic aortic aneurysm</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162872[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Thrombocythemia 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3277671[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Thrombocythemia 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3275998[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Thrombocythemia 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3281125[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Thrombocytopenia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0040034[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Thrombocytopenia 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1839163[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Thrombocytopenia 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1861185[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Thrombocytopenia 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2678311[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Thrombocytopenia 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2677608[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Thrombocytopenia 5</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4015537[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Thrombocytopenia, X-linked, with or without dyserythropoietic anemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3550789[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Thrombomodulin-related bleeding disorder</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280976[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Thrombophilia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0398623[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Thrombophilia due to activated protein C resistance</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1861171[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Thrombophilia due to protein C deficiency, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2674321[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Thrombophilia due to protein C deficiency, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2676759[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Thrombophilia due to protein S deficiency, autosomal dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3278211[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Thrombophilia due to protein S deficiency, autosomal recessive</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3281092[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Thrombophilia due to thrombin defect</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3160733[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Thrombophilia, X-linked, due to factor 9 defect</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2749016[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Thrombotic thrombocytopenic purpura</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0034155[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Thyrotoxic periodic paralysis, susceptibility to, 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2750473[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Tibial muscular dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1838244[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Timothy syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832916[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>TNF receptor-associated periodic fever syndrome (TRAPS)</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1275126[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Tooth agenesis, selective, X-linked, 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1970757[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Transcobalamin II deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0342701[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Transient bullous dermolysis of the newborn</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1851573[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Transposition of the great arteries</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0040761[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Transposition of the great arteries, dextro-looped</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1837341[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Treacher Collins syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN315775[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Treacher Collins syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150983[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Treacher Collins syndrome 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1855433[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Treacher Collins syndrome 4</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5394546[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Treacher Collins Syndrome and Mandibulofacial Dysostosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN323741[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Trichohepatoenteric syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551982[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Trichohepatoenteric syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3281289[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Triosephosphate isomerase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1860808[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Triploidy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0333693[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Trisomy 18</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4317091[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Tropical pancreatitis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842402[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Tuberous sclerosis 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1854465[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Tuberous sclerosis 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1860707[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Turner syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0041408[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>TWIST1-related craniosynostosis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551902[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Type 1 diabetes mellitus 20</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2675866[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Type 2 diabetes mellitus</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0011860[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Type 3 autoimmune lymphoproliferative syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1519711[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Tyrosinemia type I</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0268490[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Ulnar-mammary syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1866994[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Upshaw-Schulman syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1268935[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Uruguay Faciocardiomusculoskeletal syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1846010[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Usher syndrome type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1568247[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Usher syndrome type 1B</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931206[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Usher syndrome type 1C</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1848604[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Usher syndrome type 1D</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1832845[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Usher syndrome type 1F</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1865885[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Usher syndrome type 1G</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1847089[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Usher syndrome type 2A</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1848634[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Usher syndrome type 2C</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931213[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Usher syndrome type 2D</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1568249[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Usher syndrome type 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1568248[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Usher syndrome, type IIC, GPR98/PDZD7 digenic</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3148929[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>VACTERL association, X-linked, with or without hydrocephalus</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931228[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>VACTERL with hydrocephalus</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1848599[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Van Maldergem syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3809875[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Variegate porphyria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0162532[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Vasculitis due to ADA2 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3887654[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Velocardiofacial syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0220704[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">5 tests</a></span></li><li class="bg_blue"><strong>Ventricular fibrillation, paroxysmal familial, type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2751898[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Ventricular septal defect 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280777[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Ventricular septal defect 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280783[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Ventricular septal defect 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3280785[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Very long chain acyl-CoA dehydrogenase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3887523[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Vesicoureteral reflux 3</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3150927[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Vesicoureteral reflux 8</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4014831[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Vici syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1855772[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Visceral heterotaxy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3178805[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Visceral myopathy 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5542197[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Vitamin K-dependent clotting factors, combined deficiency of, type 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1848534[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Vitamin K-dependent clotting factors, combined deficiency of, type 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1843832[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Von Hippel-Lindau syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0019562[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Wagner syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1840452[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Warfarin response</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0750384[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Warts, hypogammaglobulinemia, infections, and myelokathexis</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0472817[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>WDR1 deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=CN262306[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>Weill-Marchesani syndrome 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4552002[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Weill-Marchesani syndrome 2, dominant</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1869115[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>WHIM syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5543622[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>Williams syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0175702[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>Wilson disease</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0019202[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Wiskott-Aldrich syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0043194[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>Wiskott-Aldrich syndrome 2</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3281001[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>Wolcott-Rallison dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0432217[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>Wolff-Parkinson-White pattern</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0043202[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>Woolly hair-skin fragility syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1843292[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>X-linked agammaglobulinemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0221026[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>X-linked agammaglobulinemia with growth hormone deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0472813[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>X-linked congenital hemolytic anemia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4746970[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>X-linked dyserythropoetic anemia with abnormal platelets and neutropenia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3550856[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>X-linked Emery-Dreifuss muscular dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0751337[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>X-linked erythropoietic protoporphyria</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2677889[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>X-linked ichthyosis with steryl-sulfatase deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0079588[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C3275445[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li><strong>X-linked intellectual disability with marfanoid habitus</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796022[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>X-linked intellectual disability-psychosis-macroorchidism syndrome</strong><span class="link_test"><a href="/gtr/all/tests/?term=C0796222[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>X-linked lymphoproliferative disease due to SH2D1A deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C5399825[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>X-linked lymphoproliferative disease due to XIAP deficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845076[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>X-linked mixed hearing loss with perilymphatic gusher</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1844678[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li class="bg_blue"><strong>X-linked myopathy with postural muscle atrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2678055[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>X-linked scapuloperoneal muscular dystrophy</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2678061[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li class="bg_blue"><strong>X-linked severe combined immunodeficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1279481[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">3 tests</a></span></li><li><strong>X-linked severe congenital neutropenia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845987[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>X-linked sideroblastic anemia 1</strong><span class="link_test"><a href="/gtr/all/tests/?term=C4551511[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li><strong>X-linked sideroblastic anemia with ataxia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1845028[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">4 tests</a></span></li><li class="bg_blue"><strong>X-linked spondyloepimetaphyseal dysplasia</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1848097[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li><li><strong>ZAP70-Related Severe Combined Immunodeficiency</strong><span class="link_test"><a href="/gtr/all/tests/?term=C2931299[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">2 tests</a></span></li><li class="bg_blue"><strong>Zinc deficiency, transient neonatal</strong><span class="link_test"><a href="/gtr/all/tests/?term=C1842486[DISCUI] AND 1237[ORGID]" ref="ncbi_uid=1237">1 test</a></span></li></ul></form></div></div><div class="box"><h2 id="services">List of services</h2><div class="lab_box_bd"><ul class="bullet_list"><li>Clinical Testing/Confirmation of Mutations Identified Previously</li><li>Confirmation of research findings</li><li>Prenatal testing</li><li>Custom Sequence Analysis, <a class="jig-ncbipopper" data-jigconfig="groupName : 'test-comments',isDocumentCloseClick : true, hasArrow: true, arrowDirection: 'left', openAnimation : 'none', closeAnimation :'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'" href="#comment_ordercode_4">comments</a><div class="hidden gtr-comment-popper" id="comment_ordercode_4">For more information, visit: http://www.cincinnatichildrens.org/service/d/diagnostic-labs/molecular-genetics/default/</div></li><li>Carrier testing</li><li>Identity Testing</li><li>Insurance billing</li><li>Maternal cell contamination study (MCC)</li><li>Mutation Confirmation</li><li>Uniparental Disomy (UPD) Testing</li><li>Whole Exome Sequencing, <a class="jig-ncbipopper" data-jigconfig="groupName : 'test-comments',isDocumentCloseClick : true, hasArrow: true, arrowDirection: 'left', openAnimation : 'none', closeAnimation :'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'" href="#comment_ordercode_11">comments</a><div class="hidden gtr-comment-popper" id="comment_ordercode_11">For more information, visit: http://www.cincinnatichildrens.org/service/d/diagnostic-labs/molecular-genetics/whole-exome-sequencing/default/</div></li></ul></div></div><div class="box"><h2>List of certifications/licenses</h2><div class="lab_box_bd "><h3 class="heading3">Certifications</h3><ul class="li_magin_t1 "><li>CLIA<a class="jig-ncbipopper ui-corner-all ui-icon ui-icon-help&#10; question-button" href="#popper_CLIACertificationNumber" title="" data-jigconfig="isTriggerElementCloseClick: false, hasArrow:&#10; true,openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust',&#10; triggerPosition: 'center right', destPosition: 'center left'">Help</a><span class="hidden help-tooltip" id="popper_CLIACertificationNumber">Certification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests.
If pending renewal or record has not been updated, the expiration date may be in the past.</span>, <strong>Number: </strong>36D0656333, <strong>Expiration date: </strong>2025-01-02</li><li>CAP, <strong>Number: </strong>1667801, <strong>Expiration date: </strong>2025-04-12</li></ul></div></div></div></div></div>
</div>
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<p><strong>IMPORTANT NOTE: </strong>NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. <em><strong>Patients and consumers</strong></em> with specific questions about a genetic test should contact a health care provider or a genetics professional.</p>
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