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KEGG BRITE: Human Diseases in ICD-11 Classification

<!DOCTYPE html> <html lang="en"> <head> <meta charset="utf-8"/> <meta name="viewport" content="width=device-width,initial-scale=1"> <title>KEGG BRITE: Human Diseases in ICD-11 Classification</title> <link rel="canonical" href="https://www.kegg.jp/brite/br08403"> <script src="/js/jquery-3.5.1.min.js"></script> <script src="/js/jquery-ui.js"></script> <script src="/js/jquery.balloon.min.js"></script> <script src="/js/lz-string.min.js"></script> <script src="/kegg-bin/get_data.cgi?data=0021&id=show_brite.merged.js&v1.06"></script> <link rel="stylesheet" href="/css/kegg.css?v1.06"> <link rel="stylesheet" href="/css/get_htext.css?v1.06"> <link rel="stylesheet" href="/css/kegg-brite-viewer.css?v1.06" /> <link rel="stylesheet" href="/css/kegg-brite-control-panel.css?v1.06" /> <link rel="stylesheet" href="/css/jquery-ui.css" /> <style type="text/css"> html, body { -webkit-text-size-adjust: 100%; } body > .footer hr { margin-top: 0px; } body > .footer { margin-top: 5px; } h2 .subtitle:before { 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submit_form(form, ""); } function submit_form(form, action) { if(action == "") { action = "/kegg-bin/show_brite"; } form.action = action; form.submit(); } // --> </script> </head> <body> <h2><a href="/kegg/brite.html"><img src="/Fig/bget/kegg3.gif" align="middle" border=0></a>&nbsp; Human Diseases in ICD-11 Classification</h2> <div id="scroll-to-top"> <svg width="25" height="25"> <g transform="scale(0.25)"> <circle cx="50" cy="50" r="43" fill="#ffffff" fill-opacity="0.7" stroke-width="7" stroke="#999999" /> <path d="M50 20 L20 50 L80 50 Z" style="fill:#999999" /> <line x1="50" y1="50" x2="50" y2="80" stroke-width="10" stroke="#999999" /> </g> </svg> </div> <form name="selmenu" method="post" style="margin:0px;" action="/kegg-bin/show_brite"> <input type="hidden" name="htext" value="br08403"> <input type="hidden" name="filedir" value=""> <input type="hidden" name="highlight" value=""> <input type="hidden" name="option"> <input type="hidden" name="extend" value=""> <input type="hidden" 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<label> <input class="dataset" type="checkbox" value="disease2icd11" data-entry="0" data-header="1" data-inherit-entry="1" data-column-width="80" > <span class="title">ICD-11</span> </label> </li> </ul> <ul class="personal simple"></ul> </div> </div> <button class="close"> <img src="/Fig/left_triangle_12x12.png"> </button> <button class="open"> <img src="/Fig/right_triangle_12x12.png"> </button> </div> <div class="footer"> <hr>[ <a href="/kegg/disease/">DISEASE</a> | <a href="/kegg/brite.html">BRITE</a> | <a href="/kegg/kegg2.html">KEGG2</a> | <a href="/kegg/">KEGG</a> ]<br>Last updated: April 28, 2025<br><a href="https://icd.who.int">ICD-11 by World Health Organization</a><br><br><a href="/brite/jp08403">&raquo; Japanese version</a> </div> <div id="waiting-circle"> <img src="/Fig/waiting-circle-small.gif"> </div> <input type="text" class="hidden" id="displayControlPanel" value="" /> <input type="text" class="hidden" id="expandClass" value="" /> <input type="text" class="hidden" id="initialExpandedNodes" value="" /> <input type="text" class="hidden" id="expandedNodes" value="" /> <input type="text" class="hidden" id="initialParameters" value="htext=br08403" /> <input type="text" class="hidden" id="pageParameters" /> <script type="text/javascript"> const env = {"highlight":{},"root":{"values":[],"expanded":true,"children":[{"values":["01 Certain infectious or parasitic diseases"],"children":[{"expanded":false,"children":[{"values":["Bacterial intestinal infections"],"children":[{"values":["1A00 Cholera"],"children":[{"children":[],"expanded":false,"values":["<a href=\"/entry/H00110\">H00110</a> Cholera"]}],"expanded":false},{"expanded":false,"children":[{"children":[],"expanded":false,"values":["<a href=\"/entry/H00307\">H00307</a> Vibrio parahaemolyticus infection"]},{"values":["<a href=\"/entry/H00308\">H00308</a> Vibrio vulnificus infection"],"expanded":false,"children":[]}],"values":["1A01 Intestinal infection due to other Vibrio"]},{"values":["1A02 Intestinal infections due to Shigella"],"expanded":false,"children":[{"children":[],"expanded":false,"values":["<a href=\"/entry/H00299\">H00299</a> Shigellosis"]}]},{"children":[{"values":["<a href=\"/entry/H00278\">H00278</a> Enteropathogenic Escherichia coli (EPEC) infection"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00280\">H00280</a> Enterotoxigenic Escherichia coli (ETEC) infection"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01311\">H01311</a> Enteroinvasive Escherichia coli (EIEC) infection"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00277\">H00277</a> Enterohemorrhagic Escherichia coli (EHEC) infection"]},{"values":["<a href=\"/entry/H01312\">H01312</a> Enteroaggregative Escherichia coli (EAEC) infection"],"expanded":false,"children":[]}],"expanded":false,"values":["1A03 Intestinal infections due to Escherichia coli"]},{"values":["1A04 Intestinal infections due to Clostridioides 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Giardiasis"]},{"values":["1A32 Cryptosporidiosis"],"expanded":false,"children":[{"values":["<a href=\"/entry/H00356\">H00356</a> Cryptosporidiosis"],"expanded":false,"children":[]}]},{"values":["1A33 Cystoisosporiasis"],"expanded":false,"children":[{"values":["<a href=\"/entry/H02372\">H02372</a> Cystoisosporiasis"],"expanded":false,"children":[]}]},{"values":["1A34 Sarcocystosis"],"expanded":false,"children":[{"children":[],"expanded":false,"values":["<a href=\"/entry/H02373\">H02373</a> Sarcocystosis"]}]},{"expanded":false,"children":[{"values":["<a href=\"/entry/H02374\">H02374</a> Blastocystosis"],"children":[],"expanded":false}],"values":["1A35 Blastocystosis"]},{"values":["1A36 Amoebiasis"],"children":[{"values":["<a href=\"/entry/H00360\">H00360</a> Amoebiasis"],"children":[],"expanded":false}],"expanded":false},{"expanded":false,"children":[{"values":["<a href=\"/entry/H01089\">H01089</a> Dientamoebiasis"],"children":[],"expanded":false}],"values":["1A3Y Other specified 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unspecified"],"children":[],"expanded":false}],"expanded":false},{"values":["Mycobacterial diseases"],"children":[{"children":[{"children":[{"children":[],"expanded":false,"values":["<a href=\"/entry/H00342\">H00342</a> Tuberculosis"]}],"expanded":false,"values":["1B10 Tuberculosis of the respiratory system"]},{"children":[{"expanded":false,"children":[],"values":["<a href=\"/entry/H00342\">H00342</a> Tuberculosis"]}],"expanded":false,"values":["1B11 Tuberculosis of the nervous system"]},{"children":[{"values":["<a href=\"/entry/H00342\">H00342</a> Tuberculosis"],"expanded":false,"children":[]}],"expanded":false,"values":["1B12 Tuberculosis of other systems and organs"]},{"values":["1B13 Miliary tuberculosis"],"children":[],"expanded":false},{"values":["1B14 Latent tuberculosis"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["1B1Y Other specified tuberculosis"]},{"expanded":false,"children":[],"values":["1B1Z Tuberculosis, unspecified"]}],"expanded":false,"values":["Tuberculosis"]},{"values":["1B20 Leprosy"],"expanded":false,"children":[{"expanded":false,"children":[],"values":["<a href=\"/entry/H00344\">H00344</a> Leprosy"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01473\">H01473</a> Erythema nodosum leprosum"]}]},{"values":["1B21 Infections due to non-tuberculous mycobacteria"],"children":[{"expanded":false,"children":[],"values":["<a href=\"/entry/H01458\">H01458</a> Nontuberculous mycobacterial infection"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01462\">H01462</a> Rapidly growing mycobacteria infection"]},{"values":["<a href=\"/entry/H02029\">H02029</a> Mycobacterium avium complex (MAC) pulmonary disease"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H01042\">H01042</a> Buruli ulcer"],"children":[],"expanded":false}],"expanded":false},{"expanded":false,"children":[],"values":["1B2Y Other specified mycobacterial 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href=\"/entry/H01515\">H01515</a> Scarlet fever"],"expanded":false,"children":[]}],"expanded":false,"values":["1B50 Scarlet fever"]},{"children":[{"expanded":false,"children":[],"values":["<a href=\"/entry/H00333\">H00333</a> Streptococcal infection"]},{"values":["<a href=\"/entry/H01424\">H01424</a> Group A streptococcal pharyngitis"],"children":[],"expanded":false}],"expanded":false,"values":["1B51 Streptococcal pharyngitis"]},{"expanded":false,"children":[{"values":["<a href=\"/entry/H00333\">H00333</a> Streptococcal infection"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H01406\">H01406</a> Streptococcus suis infection"],"expanded":false,"children":[]}],"values":["1B53 Meningitis due to Streptococcus"]},{"values":["1B54 Meningitis due to Staphylococcus"],"children":[],"expanded":false},{"values":["1B5Y Other specified staphylococcal or streptococcal diseases"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["1B5Z Staphylococcal or 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pyropoikilocytosis"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02001\">H02001</a> Familial pseudohyperkalemia"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00230\">H00230</a> Hereditary spherocytosis"]},{"values":["<a href=\"/entry/H00232\">H00232</a> Hereditary stomatocytosis"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00664\">H00664</a> Anemia due to disorders of glycolytic enzymes"]},{"values":["<a href=\"/entry/H00674\">H00674</a> Anemia due to disorders of nucleotide metabolism"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00832\">H00832</a> Core neuroacanthocytosis syndromes"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H01214\">H01214</a> Rh-null hemolytic anemia (RHN)"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H01432\">H01432</a> Choreoacanthocytosis"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01434\">H01434</a> Atypical hemolytic uremic syndrome"]},{"values":["<a href=\"/entry/H01720\">H01720</a> Southeast Asian ovalocytosis"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01978\">H01978</a> Dehydrated hereditary stomatocytosis"]},{"values":["<a href=\"/entry/H01979\">H01979</a> Overhydrated hereditary stomatocytosis"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H02002\">H02002</a> Cryohydrocytosis"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02658\">H02658</a> X-linked congenital hemolytic anemia"]}],"values":["3A10 Hereditary haemolytic anaemia"]},{"expanded":false,"children":[{"values":["<a href=\"/entry/H02868\">H02868</a> Heinz body anemia"],"expanded":false,"children":[]}],"values":["3A1Y Other specified congenital haemolytic 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syndrome"]}],"expanded":false},{"values":["3A51 Sickle cell disorders or other haemoglobinopathies"],"children":[{"values":["<a href=\"/entry/H00229\">H00229</a> Sickle cell disease"],"children":[],"expanded":false}],"expanded":false},{"children":[{"values":["3A60 Congenital pure red cell aplasia"],"expanded":false,"children":[{"children":[],"expanded":false,"values":["<a href=\"/entry/H00237\">H00237</a> Diamond-Blackfan anemia"]}]},{"values":["3A61 Acquired pure red cell aplasia"],"expanded":false,"children":[{"children":[],"expanded":false,"values":["<a href=\"/entry/H01586\">H01586</a> Acquired pure red cell aplasia"]}]},{"values":["3A6Z Pure red cell aplasia, unspecified"],"children":[],"expanded":false}],"expanded":false,"values":["Pure red cell aplasia"]},{"values":["3A70 Aplastic anaemia"],"expanded":false,"children":[{"expanded":false,"children":[],"values":["<a href=\"/entry/H01132\">H01132</a> Aplastic anemia"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00238\">H00238</a> Fanconi anemia"]},{"values":["<a href=\"/entry/H00439\">H00439</a> Shwachman-Diamond syndrome"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00507\">H00507</a> Dyskeratosis congenita"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00788\">H00788</a> Hoyeraal-Hreidarsson syndrome"]},{"values":["<a href=\"/entry/H00921\">H00921</a> Revesz syndrome"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02524\">H02524</a> Ataxia-pancytopenia syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02529\">H02529</a> Bone marrow failure syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02569\">H02569</a> Pulmonary fibrosis and/or bone marrow failure, telomere-related"]},{"values":["<a href=\"/entry/H02608\">H02608</a> Autoinflammatory-pancytopenia 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href=\"/entry/H02907\">H02907</a> Elevated adenosine triphosphate of erythrocytes"]}],"expanded":false,"values":["3A9Y Other specified anaemias or erythrocyte disorders"]},{"values":["3A9Z Anaemias or other erythrocyte disorders, unspecified"],"children":[],"expanded":false}],"expanded":false,"values":["Anaemias or other erythrocyte disorders"]},{"expanded":false,"children":[{"children":[{"values":["Congenital or constitutional haemorrhagic condition"],"expanded":false,"children":[{"expanded":false,"children":[{"expanded":false,"children":[],"values":["<a href=\"/entry/H00219\">H00219</a> Hemophilia"]}],"values":["3B10 Hereditary factor VIII deficiency"]},{"values":["3B11 Hereditary factor IX deficiency"],"expanded":false,"children":[{"values":["<a href=\"/entry/H00219\">H00219</a> Hemophilia"],"expanded":false,"children":[]}]},{"children":[{"values":["<a href=\"/entry/H00219\">H00219</a> Hemophilia"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02092\">H02092</a> von Willebrand disease"]}],"expanded":false,"values":["3B12 Von Willebrand disease"]},{"expanded":false,"children":[{"values":["<a href=\"/entry/H00938\">H00938</a> Factor XI deficiency"],"expanded":false,"children":[]}],"values":["3B13 Haemophilia C"]},{"expanded":false,"children":[{"expanded":false,"children":[],"values":["<a href=\"/entry/H01254\">H01254</a> Congenital prothrombin deficiency"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00222\">H00222</a> Congenital fibrinogen deficiency"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02257\">H02257</a> Factor X deficiency"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00995\">H00995</a> Combined deficiency of vitamin K-dependent clotting factors"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02256\">H02256</a> Factor VII deficiency"]},{"values":["<a href=\"/entry/H00220\">H00220</a> Factor V 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Disseminated intravascular coagulation"]}],"expanded":false},{"children":[{"children":[],"expanded":false,"values":["<a href=\"/entry/H01759\">H01759</a> Autoimmune acquired factor XIII (F13) deficiency"]}],"expanded":false,"values":["3B21 Haemorrhagic disorder due to circulating anticoagulants and coagulation factors"]},{"expanded":false,"children":[],"values":["3B22 Acquired haemophilia"]},{"values":["3B2Y Other specified haemorrhagic diseases due to acquired coagulation factor defects"],"expanded":false,"children":[]}],"values":["Haemorrhagic diseases due to acquired coagulation factor defects"]},{"values":["3B4Z Coagulation defects, unspecified"],"expanded":false,"children":[]}],"expanded":false,"values":["Coagulation defects"]},{"expanded":false,"children":[{"expanded":false,"children":[{"children":[],"expanded":false,"values":["<a href=\"/entry/H00983\">H00983</a> Alpha-2-plasmin inhibitor (a2-PI) deficiency"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01106\">H01106</a> Plasminogen activator inhibitor type 1 deficiency"]},{"values":["<a href=\"/entry/H01206\">H01206</a> Plasminogen deficiency"],"children":[],"expanded":false}],"values":["3B50 Inherited fibrinolytic defects"]},{"values":["3B51 Acquired fibrinolytic defects"],"children":[],"expanded":false}],"values":["Fibrinolytic defects"]},{"values":["3B60 Non-thrombocytopenic purpura"],"children":[],"expanded":false},{"values":["3B61 Thrombophilia"],"expanded":false,"children":[{"children":[],"expanded":false,"values":["<a href=\"/entry/H00223\">H00223</a> Inherited thrombophilia"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01381\">H01381</a> Antithrombin III deficiency"]}]},{"values":["3B62 Qualitative platelet defects"],"expanded":false,"children":[{"children":[],"expanded":false,"values":["<a href=\"/entry/H01235\">H01235</a> Bleeding disorder platelet-type"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01108\">H01108</a> CD36 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Thrombocytopenia"],"children":[{"values":["<a href=\"/entry/H00978\">H00978</a> Thrombocytopenia (THC)"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00227\">H00227</a> Congenital amegakaryocytic thrombocytopenia"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00233\">H00233</a> MYH9-related disease"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00578\">H00578</a> Epstein syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00867\">H00867</a> Radioulnar synostosis with amegakaryocytic thrombocytopenia"]},{"values":["<a href=\"/entry/H01740\">H01740</a> Macrothrombocytopenia"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01847\">H01847</a> Thrombocytopenia-absent radius syndrome"]},{"values":["<a href=\"/entry/H02052\">H02052</a> Sebastian syndrome"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02053\">H02053</a> Fechtner syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01240\">H01240</a> Immune thrombocytopenia"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00225\">H00225</a> Thrombotic thrombocytopenic purpura"]}],"expanded":false},{"expanded":false,"children":[],"values":["3B65 Thrombotic microangiopathy, not elsewhere classified"]},{"values":["3B6Y Other specified coagulation defects, purpura or other haemorrhagic or related conditions"],"expanded":false,"children":[{"expanded":false,"children":[],"values":["<a href=\"/entry/H02749\">H02749</a> Bleeding disorder vascular-type"]}]},{"values":["3B6Z Coagulation defects, purpura or other haemorrhagic or related conditions, unspecified"],"expanded":false,"children":[]}],"values":["Coagulation defects, purpura or other haemorrhagic or related conditions"]},{"children":[{"values":["3B80 Congenital disorders of spleen"],"children":[],"expanded":false},{"values":["3B81 Acquired disorders of spleen"],"children":[],"expanded":false},{"values":["3B8Z Diseases of spleen, unspecified"],"expanded":false,"children":[]}],"expanded":false,"values":["Diseases of spleen"]},{"values":["3C0Y Other specified diseases of the blood or blood-forming organs"],"expanded":false,"children":[{"values":["<a href=\"/entry/H01013\">H01013</a> Adult i phenotype"],"expanded":false,"children":[]}]},{"values":["3C0Z Diseases of the blood or blood-forming organs, unspecified"],"expanded":false,"children":[]}],"expanded":false},{"values":[],"expanded":false,"children":[]},{"values":["04 Diseases of the immune system"],"children":[{"values":["Primary immunodeficiencies"],"children":[{"values":["4A00 Primary immunodeficiencies due to disorders of innate immunity"],"children":[{"expanded":false,"children":[],"values":["<a href=\"/entry/H01725\">H01725</a> Primary immunodeficiency disease"]},{"values":["<a href=\"/entry/H02525\">H02525</a> Disorders of innate 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pathway defects"]},{"values":["<a href=\"/entry/H01006\">H01006</a> Hereditary angioedema"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H00105\">H00105</a> Mannose-binding lectin pathway component defects"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H00106\">H00106</a> Complement regulatory protein defects"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H01136\">H01136</a> Carboxypeptidase N deficiency"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02904\">H02904</a> Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00089\">H00089</a> IFN-gamma/IL-12 axis"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00096\">H00096</a> Defects of toll-like receptor signaling"]},{"values":["<a href=\"/entry/H00721\">H00721</a> Pyogenic bacterial infections, recurrent, due to MYD88 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href=\"/entry/H00088\">H00088</a> Common variable immunodeficiency"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H00093\">H00093</a> Combined immunodeficiency"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H00091\">H00091</a> T-B+Severe combined immunodeficiency"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00092\">H00092</a> T-B-Severe combined immunodeficiency"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01128\">H01128</a> Reticular dysgenesis"]},{"values":["<a href=\"/entry/H01244\">H01244</a> T+B+Severe combined immunodeficiencies (SCIDs)"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02309\">H02309</a> Adenosine deaminase deficiency"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02554\">H02554</a> Omenn syndrome"]},{"values":["<a href=\"/entry/H00984\">H00984</a> MHC class I 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href=\"/entry/H01474\">H01474</a> Acquired generalized lipodystrophy"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H02384\">H02384</a> Abdominal obesity-metabolic syndrome"],"expanded":false,"children":[]}],"values":["5A44 Insulin-resistance syndromes"]},{"values":["5A45 Persistent hyperinsulinaemic hypoglycaemia of infancy"],"expanded":false,"children":[{"expanded":false,"children":[],"values":["<a href=\"/entry/H01267\">H01267</a> Familial hyperinsulinemic hypoglycemia"]}]},{"values":["5A4Y Other specified disorders of glucose regulation or pancreatic internal secretion"],"expanded":false,"children":[{"values":["<a href=\"/entry/H02760\">H02760</a> BDV syndrome"],"expanded":false,"children":[]}]},{"values":["5A4Z Disorders of glucose regulation or pancreatic internal secretion, unspecified"],"children":[],"expanded":false}]},{"children":[{"values":["5A50 Hypoparathyroidism"],"children":[{"values":["<a href=\"/entry/H01862\">H01862</a> 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Growth delay due to insulin-like growth factor I resistance"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01700\">H01700</a> Hypopituitarism"]},{"values":["<a href=\"/entry/H01907\">H01907</a> Acid-labile subunit deficiency"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H01973\">H01973</a> Fertile eunuch syndrome"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H02035\">H02035</a> Isolated growth hormone deficiency"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02036\">H02036</a> Combined pituitary hormone deficiency"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H02037\">H02037</a> Laron syndrome"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02038\">H02038</a> X-linked panhypopituitarism"]},{"values":["<a href=\"/entry/H02039\">H02039</a> Kowarski 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href=\"/entry/H02879\">H02879</a> MIRAGE syndrome"]}],"values":["5A70 Cushing syndrome"]},{"values":["5A71 Adrenogenital disorders"],"children":[{"children":[],"expanded":false,"values":["<a href=\"/entry/H01702\">H01702</a> Glucocorticoid resistance syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00216\">H00216</a> Congenital adrenal hyperplasia"]},{"values":["<a href=\"/entry/H02315\">H02315</a> Disordered steroidogenesis due to cytochrome P450 oxidoreductase"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01111\">H01111</a> Cortisone reductase deficiency"]}],"expanded":false},{"values":["5A72 Hyperaldosteronism"],"expanded":false,"children":[{"values":["<a href=\"/entry/H00602\">H00602</a> Glucocorticoid-remediable aldosteronism (GRA)"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H01603\">H01603</a> Primary 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href=\"/entry/H00171\">H00171</a> Histidinemia"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H01233\">H01233</a> Urocanase deficiency"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01583\">H01583</a> Hydroxykynureninuria"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02545\">H02545</a> Hypertryptophanemia"]},{"values":["<a href=\"/entry/H00188\">H00188</a> Hyperlysinemia"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H01242\">H01242</a> Saccharopinuria"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H02644\">H02644</a> Alpha-aminoadipic and alpha-ketoadipic aciduria"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02313\">H02313</a> 5-Oxoprolinase deficiency"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01079\">H01079</a> 3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency"]},{"values":["<a href=\"/entry/H01082\">H01082</a> Phosphoserine aminotransferase deficiency"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H02116\">H02116</a> Phosphoserine phosphatase deficiency"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01003\">H01003</a> Dimethylglycine dehydrogenase deficiency"]},{"values":["<a href=\"/entry/H00191\">H00191</a> Nonketotic hyperglycinemia"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02657\">H02657</a> Sarcosinemia"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02380\">H02380</a> D-glyceric aciduria"]},{"values":["<a href=\"/entry/H00190\">H00190</a> Hyperprolinemia"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H00187\">H00187</a> Ornithine transcarbamylase deficiency"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00189\">H00189</a> Ornithinaemia"]},{"values":["<a 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href=\"/entry/H01076\">H01076</a> Beta-ketothiolase deficiency"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01279\">H01279</a> Isobutyryl-CoA dehydrogenase deficiency"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02136\">H02136</a> Branched-chain ketoacid dehydrogenase kinase deficiency"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02285\">H02285</a> Methylmalonate semialdehyde dehydrogenase deficiency"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02546\">H02546</a> Hypervalinemia and hyperleucine-isoleucinemia"]},{"values":["<a href=\"/entry/H01349\">H01349</a> Methacrylic aciduria"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00173\">H00173</a> Isovaleric acidemia"]},{"values":["<a href=\"/entry/H00174\">H00174</a> Methylmalonic aciduria"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00175\">H00175</a> Propionic acidemia"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H00180\">H00180</a> Holocarboxylase synthetase deficiency"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00181\">H00181</a> 3-Methylcrotonylglycinuria"]},{"values":["<a href=\"/entry/H00375\">H00375</a> SBCAD deficiency"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00654\">H00654</a> Barth syndrome"]},{"values":["<a href=\"/entry/H00754\">H00754</a> 3-Methylglutaconic aciduria"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01182\">H01182</a> Biotinidase deficiency"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02221\">H02221</a> Methylmalonic aciduria and homocystinuria"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02222\">H02222</a> Methylmalonic acidemia and hyperhomocysteinemia, cblX 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methylmalonic aciduria"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01119\">H01119</a> Prolidase deficiency"]},{"values":["<a href=\"/entry/H01234\">H01234</a> Trimethylaminuria"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00923\">H00923</a> Congenital systemic glutamine deficiency"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H01386\">H01386</a> Asparagine synthetase deficiency"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02312\">H02312</a> Glutathione synthetase deficiency"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02750\">H02750</a> Glutathionuria"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02774\">H02774</a> Hypotaurinemic retinal degeneration and cardiomyopathy"]},{"values":["<a href=\"/entry/H02800\">H02800</a> N-acetylaspartate 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href=\"/entry/H00117\">H00117</a> Primary hyperoxaluria"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00069\">H00069</a> Glycogen storage disease"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00150\">H00150</a> Danon disease"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01375\">H01375</a> Glucose 6-phosphate dehydrogenase deficiency"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01760\">H01760</a> Hepatic glycogen storage disease"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01762\">H01762</a> Muscle glycogen storage disease"]},{"values":["<a href=\"/entry/H01939\">H01939</a> Glycogen storage disease type I"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01940\">H01940</a> Glycogen storage disease type II"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01941\">H01941</a> Glycogen storage disease type 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type 0a"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01951\">H01951</a> Glycogen storage disease type X"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01952\">H01952</a> Glycogen storage disease type XII"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01953\">H01953</a> Glycogen storage disease type XIII"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01954\">H01954</a> Glycogen storage disease type XIV"]},{"values":["<a href=\"/entry/H01955\">H01955</a> Glycogen storage disease type XV"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01956\">H01956</a> Glycogen storage disease of heart"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00070\">H00070</a> Galactosemia"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02008\">H02008</a> Galactose-1P uridylyltransferase 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(MHBD) deficiency"]},{"values":["<a href=\"/entry/H01352\">H01352</a> Mitochondrial trifunctional protein deficiency"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01364\">H01364</a> 3-Hydroxyacyl-CoA dehydrogenase deficiency"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01929\">H01929</a> 2,4-Dienoyl-CoA reductase deficiency"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01980\">H01980</a> SCAD deficiency"]},{"values":["<a href=\"/entry/H02085\">H02085</a> Acyl-CoA dehydrogenase 9 deficiency"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H00179\">H00179</a> 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H01121\">H01121</a> Succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01123\">H01123</a> HMG-CoA synthase deficiency"]},{"values":["<a href=\"/entry/H00162\">H00162</a> Sjogren-Larsson syndrome"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02284\">H02284</a> Leukotriene C4 synthase deficiency"]},{"values":["<a href=\"/entry/H02689\">H02689</a> Retinal dystrophy with leukodystrophy"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00161\">H00161</a> Smith-Lemli-Opitz syndrome"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00206\">H00206</a> Mevalonate kinase deficiency"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00617\">H00617</a> Desmosterolosis"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01281\">H01281</a> Lathosterolosis"]},{"values":["<a href=\"/entry/H00151\">H00151</a> Cerebrotendinous xanthomatosis"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H00624\">H00624</a> Progressive familial intrahepatic cholestasis"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00628\">H00628</a> Congenital bile acid synthesis defect"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02099\">H02099</a> Alpha-methylacyl-CoA racemase deficiency"]},{"values":["<a href=\"/entry/H00152\">H00152</a> Sitosterolemia"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00736\">H00736</a> Dorfman-Chanarin syndrome"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01297\">H01297</a> Neutral lipid storage disease with myopathy"]},{"values":["<a href=\"/entry/H02527\">H02527</a> Lipid storage myopathy due to FLAD1 deficiency"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02711\">H02711</a> Acetyl-CoA carboxylase-alpha deficiency"]}]},{"values":["5C53 Inborn errors of energy metabolism"],"children":[{"values":["<a href=\"/entry/H01427\">H01427</a> Mitochondrial disease"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01096\">H01096</a> Pyruvate kinase deficiency"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00072\">H00072</a> Pyruvate dehydrogenase complex deficiency"]},{"values":["<a href=\"/entry/H01996\">H01996</a> Pyruvate dehydrogenase phosphatase deficiency"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01997\">H01997</a> Pyruvate dehydrogenase E1-alpha deficiency"]},{"values":["<a href=\"/entry/H01998\">H01998</a> Pyruvate dehydrogenase E1-beta deficiency"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H01999\">H01999</a> Pyruvate dehydrogenase E2 deficiency"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02000\">H02000</a> Dihydrolipoamide dehydrogenase deficiency"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H02003\">H02003</a> Pyruvate dehydrogenase E3-binding 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degeneration"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H02562\">H02562</a> Yoon-Bellen neurodevelopmental syndrome"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00469\">H00469</a> Mitochondrial DNA depletion syndrome"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01389\">H01389</a> Alpers syndrome"]},{"values":["<a href=\"/entry/H01390\">H01390</a> Mitochondrial neurogastrointestinal encephalomyopathy"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01384\">H01384</a> Mitochondrial recessive ataxia syndrome"]},{"values":["<a href=\"/entry/H00999\">H00999</a> Coenzyme Q10 deficiency"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00871\">H00871</a> Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H01367\">H01367</a> Infantile liver failure"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01354\">H01354</a> Leigh syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01369\">H01369</a> ATP synthase deficiency"]},{"values":["<a href=\"/entry/H00473\">H00473</a> Mitochondrial complex I deficiency"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H00891\">H00891</a> Combined oxidative phosphorylation deficiency"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00920\">H00920</a> Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01201\">H01201</a> Jensen syndrome"]},{"values":["<a href=\"/entry/H01368\">H01368</a> Cytochrome c oxidase (COX) deficiency"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H01894\">H01894</a> Multiple mitochondrial dysfunctions syndrome"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02005\">H02005</a> Mitochondrial complex II deficiency"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02007\">H02007</a> GRACILE syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02086\">H02086</a> Mitochondrial complex III deficiency"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02779\">H02779</a> Riboflavin-responsive exercise intolerance"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01305\">H01305</a> Global cerebral hypomyelination"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01348\">H01348</a> Mitochondrial phosphate carrier deficiency"]},{"values":["<a href=\"/entry/H00834\">H00834</a> Guanidinoacetate methyltransferase deficiency"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00849\">H00849</a> Cerebral creatine deficiency 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specified protein modification"],"expanded":false,"children":[{"expanded":false,"children":[],"values":["<a href=\"/entry/H01486\">H01486</a> Multiple congenital anomalies-hypotonia-seizures syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01487\">H01487</a> CHIME syndrome"]},{"values":["<a href=\"/entry/H00118\">H00118</a> Congenital disorders of glycosylation type I"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00119\">H00119</a> Congenital disorders of glycosylation type II"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02767\">H02767</a> Congenital disorder of deglycosylation"]},{"values":["<a href=\"/entry/H02900\">H02900</a> Kahrizi syndrome"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H01188\">H01188</a> Tn syndrome"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01193\">H01193</a> Familial tumoral calcinosis"]},{"values":["<a href=\"/entry/H00996\">H00996</a> Amish infantile epilepsy syndrome"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H01127\">H01127</a> PIGM-congenital disorder of glycosylation"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H01489\">H01489</a> Inherited glycosylphosphatidylinositol deficiencies"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02451\">H02451</a> Congenital disorder of glycosylation with defective fucosylation"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02690\">H02690</a> Structural heart defects and renal anomalies syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02815\">H02815</a> Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome"]}]},{"values":["5C55 Inborn errors of purine, pyrimidine or nucleotide metabolism"],"children":[{"values":["<a href=\"/entry/H00192\">H00192</a> Xanthinuria"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00194\">H00194</a> Lesch-Nyhan syndrome"]},{"values":["<a href=\"/entry/H00195\">H00195</a> Adenine phosphoribosyltransferase deficiency"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00196\">H00196</a> Phosphoribosylpyrophosphate synthetase superactivity"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00197\">H00197</a> Adenylosuccinate lyase deficiency"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00964\">H00964</a> Poor metabolism of thiopurines"]},{"values":["<a href=\"/entry/H00966\">H00966</a> AICA-ribosiduria"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02011\">H02011</a> Familial juvenile hyperuricemic nephropathy"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H02237\">H02237</a> AMP deaminase deficiency"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H00193\">H00193</a> Dihydropyrimidine dehydrogenase deficiency"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H00199\">H00199</a> Dihydropyrimidinase deficiency"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00200\">H00200</a> Beta-ureidopropionase deficiency"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00290\">H00290</a> Aicardi-Goutieres syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00878\">H00878</a> Cystic leukoencephalopathy without megalencephaly"]},{"values":["<a href=\"/entry/H02433\">H02433</a> Hypomyelination with brainstem and spinal cord involvement and leg spasticity"],"children":[],"expanded":false}],"expanded":false},{"values":["5C56 Lysosomal diseases"],"children":[{"children":[],"expanded":false,"values":["<a href=\"/entry/H01425\">H01425</a> Lysosomal storage disease"]},{"values":["<a href=\"/entry/H00423\">H00423</a> Sphingolipidosis"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00124\">H00124</a> GM2 gangliosidoses"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00281\">H00281</a> GM1 gangliosidosis"]},{"values":["<a href=\"/entry/H00426\">H00426</a> Gangliosidosis"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H02016\">H02016</a> Tay-Sachs disease"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02017\">H02017</a> Sandhoff disease"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00125\">H00125</a> Fabry disease"]},{"values":["<a href=\"/entry/H00127\">H00127</a> Metachromatic leukodystrophy"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00272\">H00272</a> Multiple sulfatase deficiency"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00126\">H00126</a> Gaucher disease"]},{"values":["<a href=\"/entry/H00136\">H00136</a> Niemann-Pick disease type C"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00137\">H00137</a> Niemann-Pick disease type A/B"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00138\">H00138</a> Farber lipogranulomatosis"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00148\">H00148</a> Lysosomal acid lipase deficiency"]},{"values":["<a href=\"/entry/H00424\">H00424</a> Defects in the degradation of sphingomyelin"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01239\">H01239</a> Combined SAP deficiency"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02468\">H02468</a> Early childhood-onset progressive leukodystrophy"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00149\">H00149</a> Neuronal ceroid lipofuscinosis"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02275\">H02275</a> Batten 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Papillon-Lefevre syndrome"]},{"values":["<a href=\"/entry/H00425\">H00425</a> Lysosomal cysteine protease deficiencies"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02128\">H02128</a> Defects in lysosomal trafficking"]}],"expanded":false},{"expanded":false,"children":[{"values":["<a href=\"/entry/H00177\">H00177</a> Neonatal adrenoleukodystrophy"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00205\">H00205</a> Peroxisome biogenesis disorder"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00207\">H00207</a> Rhizomelic chondrodysplasia punctata"]},{"values":["<a href=\"/entry/H01342\">H01342</a> Zellweger syndrome"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02100\">H02100</a> Peroxisomal fatty acyl-CoA reductase 1 disorder"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00075\">H00075</a> Refsum 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Hyperbiliverdinemia"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02057\">H02057</a> Rotor syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01763\">H01763</a> Porphyria"]},{"values":["<a href=\"/entry/H00202\">H00202</a> Hepatic porphyria"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00201\">H00201</a> Erythropoietic porphyria"],"children":[],"expanded":false}],"expanded":false},{"values":["5C59 Inborn errors of neurotransmitter metabolism"],"children":[{"values":["<a href=\"/entry/H01005\">H01005</a> Dopamine beta-hydroxylase deficiency"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01161\">H01161</a> Aromatic L-amino acid decarboxylase deficiency"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02597\">H02597</a> Sepiapterin reductase deficiency"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00548\">H00548</a> Brunner 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Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia"]},{"values":["<a href=\"/entry/H00214\">H00214</a> Hypophosphatemic rickets"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02139\">H02139</a> Autosomal recessive hypophosphatemic rickets"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02141\">H02141</a> Autosomal dominant hypophosphatemic rickets"]},{"values":["<a href=\"/entry/H02142\">H02142</a> X-linked recessive hypophosphatemic rickets"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02143\">H02143</a> X-linked dominant hypophosphatemic rickets"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00990\">H00990</a> Microcephaly, Amish type"]},{"values":["<a href=\"/entry/H01124\">H01124</a> Pyridoxamine-5'-phosphate oxidase (PNPO) deficiency"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01183\">H01183</a> Thiamine-responsive megaloblastic anemia"]},{"values":["<a href=\"/entry/H01231\">H01231</a> Biotin-thiamine-responsive basal ganglia disease"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02662\">H02662</a> Sulfide quinone oxidoreductase deficiency"]},{"values":["<a href=\"/entry/H02671\">H02671</a> Sodium-dependent multivitamin transporter deficiency"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02699\">H02699</a> Folate-responsive megaloblastic anemia"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H02832\">H02832</a> Thiamine metabolism dysfunction syndrome"],"expanded":false,"children":[]}]},{"children":[{"values":["<a href=\"/entry/H02736\">H02736</a> Neurodegeneration and seizures due to copper transport defect"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00210\">H00210</a> Wilson disease"]},{"values":["<a href=\"/entry/H00209\">H00209</a> Menkes syndrome"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00833\">H00833</a> Neurodegeneration with brain iron accumulation"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02207\">H02207</a> Kufor-Rakeb syndrome"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02208\">H02208</a> Pantothenate kinase-associated neurodegeneration"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02209\">H02209</a> HARP syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00211\">H00211</a> Hemochromatosis"]},{"values":["<a href=\"/entry/H00212\">H00212</a> Acrodermatitis enteropathica"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H02550\">H02550</a> Birk-Landau-Perez syndrome"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00213\">H00213</a> Hypophosphatasia"]},{"values":["<a href=\"/entry/H01113\">H01113</a> Acid phosphatase deficiency"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02138\">H02138</a> Hereditary hypophophatemic rickets with hypercalciuria"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00240\">H00240</a> Gitelman syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01210\">H01210</a> Hypomagnesemia"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00245\">H00245</a> Calcium sensing receptor (CASR) related disease"]},{"values":["<a href=\"/entry/H01371\">H01371</a> Hypercalcemia infantile"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01938\">H01938</a> Hypermanganesemia with dystonia"]}],"expanded":false,"values":["5C64 Disorders of mineral absorption or transport"]},{"values":["5C6Y Other specified disorders of metabolite absorption or transport"],"children":[],"expanded":false},{"values":["5C6Z 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Hypolipoproteinaemia"],"expanded":false,"children":[{"values":["<a href=\"/entry/H00159\">H00159</a> Tangier disease"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H00930\">H00930</a> Hypoalphalipoproteinemia"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H00160\">H00160</a> Abetalipoproteinemia"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00927\">H00927</a> Chylomicron retention disease"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01270\">H01270</a> Familial hypobetalipoproteinemia"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00158\">H00158</a> Lecithin:cholesterol acyltransferase deficiency"]}]},{"values":["5C8Y Other specified disorders of lipoprotein metabolism or lipidaemias"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["5C8Z Unspecified disorders of lipoprotein metabolism or lipidaemias"]}],"expanded":false,"values":["Disorders of 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href=\"/entry/H00784\">H00784</a> Localized autosomal recessive hypotrichosis"]},{"values":["<a href=\"/entry/H00786\">H00786</a> Hypotrichosis"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00858\">H00858</a> Marie-Unna hereditary hypotrichosis"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00782\">H00782</a> Hypotrichosis and recurrent skin vesicles"]}],"expanded":false},{"children":[{"values":["<a href=\"/entry/H00683\">H00683</a> Anonychia congenita"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01307\">H01307</a> Nonsyndromic congenital nail disorder"]}],"expanded":false,"values":["EC22 Genetic defects of nails or nail growth"]},{"children":[{"children":[],"expanded":false,"values":["<a href=\"/entry/H00884\">H00884</a> Familial progressive hyperpigmentation"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00944\">H00944</a> Dowling-Degos 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href=\"/entry/H02152\">H02152</a> Transient familial neonatal hyperbilirubinemia"],"expanded":false,"children":[]}],"values":["KA87 Neonatal hyperbilirubinaemia"]},{"children":[],"expanded":false,"values":["KA88 Disseminated intravascular coagulation of fetus or newborn"]},{"values":["KA89 Transient neonatal thrombocytopaenia"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["KA8A Polycythaemia neonatorum"]},{"expanded":false,"children":[],"values":["KA8B Anaemia of prematurity"]},{"children":[],"expanded":false,"values":["KA8C Congenital hypoplastic anaemia"]},{"expanded":false,"children":[],"values":["KA8D Transient neonatal neutropaenia"]},{"expanded":false,"children":[],"values":["KA8E Alloimmune neonatal neutropaenia"]},{"expanded":false,"children":[],"values":["KA8F Neonatal vitamin K deficiency"]},{"values":["KA8Y Other specified haemorrhagic or haematological disorders of fetus or newborn"],"children":[],"expanded":false},{"values":["KA8Z Haemorrhagic 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defect"],"children":[],"expanded":false}]},{"expanded":false,"children":[{"children":[],"expanded":false,"values":["<a href=\"/entry/H02882\">H02882</a> Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma"]}],"values":["LA1Y Other specified structural developmental anomalies of the eye, eyelid or lacrimal apparatus"]},{"values":["LA1Z Structural developmental anomalies of the eye, eyelid or lacrimal apparatus, unspecified"],"children":[],"expanded":false}]},{"values":["Structural developmental anomalies of the ear"],"children":[{"expanded":false,"children":[],"values":["LA20 Structural anomaly of eustachian apparatus"]},{"children":[],"expanded":false,"values":["LA21 Minor anomalies of pinnae"]},{"values":["LA22 Structural developmental anomalies of ear causing hearing impairment"],"expanded":false,"children":[{"values":["<a href=\"/entry/H02115\">H02115</a> Congenital aural 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href=\"/entry/H00618\">H00618</a> Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01015\">H01015</a> Jalili syndrome"]},{"values":["<a href=\"/entry/H02348\">H02348</a> Dentin dysplasia"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00432\">H00432</a> Hereditary dentine disorders"]}],"values":["LA30 Structural developmental anomalies of teeth and periodontal tissues"]},{"expanded":false,"children":[],"values":["LA31 Structural developmental anomalies of mouth or tongue"]},{"children":[{"values":["LA40 Cleft lip"],"children":[{"values":["<a href=\"/entry/H00516\">H00516</a> Cleft lip and/or cleft palate"],"children":[],"expanded":false}],"expanded":false},{"values":["LA41 Cleft lip and alveolus"],"children":[{"children":[],"expanded":false,"values":["<a href=\"/entry/H00516\">H00516</a> Cleft lip and/or cleft 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Macrocheilia"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["LA54 Microcheilia"]},{"values":["LA55 Compression facies"],"children":[],"expanded":false},{"values":["LA56 Pierre Robin syndrome"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["LA5Y Other specified structural developmental anomalies of the face"]},{"children":[],"expanded":false,"values":["LA5Z Structural developmental anomalies of the face, unspecified"]}],"expanded":false},{"values":["Structural developmental anomalies of the neck"],"children":[{"values":["LA60 Webbed neck"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["LA61 Congenital sternomastoid tumour"]},{"expanded":false,"children":[],"values":["LA62 Congenital torticollis"]},{"values":["LA6Y Other specified structural developmental anomalies of the neck"],"expanded":false,"children":[]},{"values":["LA6Z Structural developmental anomalies of the neck, 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href=\"/entry/H02331\">H02331</a> Gastrointestinal defects and immunodeficiency syndrome"],"children":[],"expanded":false}],"expanded":false},{"values":["LB1Z Structural developmental anomalies of the digestive tract, unspecified"],"expanded":false,"children":[]}],"values":["Structural developmental anomalies of the digestive tract"]},{"expanded":false,"children":[{"expanded":false,"children":[{"values":["<a href=\"/entry/H01855\">H01855</a> Biliary atresia"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00551\">H00551</a> Alagille syndrome"]}],"values":["LB20 Structural developmental anomalies of gallbladder, bile ducts or liver"]},{"children":[{"values":["<a href=\"/entry/H00861\">H00861</a> Pancreatic agenesis"],"children":[],"expanded":false}],"expanded":false,"values":["LB21 Structural developmental anomalies of pancreas"]},{"values":["LB22 Structural developmental anomalies of spleen"],"children":[{"values":["<a href=\"/entry/H01435\">H01435</a> Congenital asplenia"],"expanded":false,"children":[]}],"expanded":false},{"values":["LB2Y Other specified structural developmental anomalies of the liver, biliary tract, pancreas or spleen"],"children":[],"expanded":false},{"values":["LB2Z Structural developmental anomalies of the liver, biliary tract, pancreas or spleen, unspecified"],"children":[],"expanded":false}],"values":["Structural developmental anomalies of the liver, biliary tract, pancreas or spleen"]},{"children":[{"children":[{"values":["<a href=\"/entry/H01867\">H01867</a> Congenital anomalies of kidney and urinary tract"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00822\">H00822</a> Renal hypodysplasia and aplasia"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00575\">H00575</a> Renal tubular dysgenesis"]}],"expanded":false,"values":["LB30 Structural developmental anomalies of kidneys"]},{"children":[{"values":["<a href=\"/entry/H01867\">H01867</a> Congenital anomalies of kidney and urinary tract"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02495\">H02495</a> Congenital megabladder"],"children":[],"expanded":false}],"expanded":false,"values":["LB31 Structural developmental anomalies of urinary tract"]},{"children":[{"expanded":false,"children":[],"values":["<a href=\"/entry/H02796\">H02796</a> Autonomic bladder dysfunction with impaired pupillary reflex and secondary CAKUT"]}],"expanded":false,"values":["LB3Y Other specified structural developmental anomalies of the urinary system"]},{"values":["LB3Z Structural developmental anomalies of the urinary system, unspecified"],"expanded":false,"children":[]}],"expanded":false,"values":["Structural developmental anomalies of the urinary system"]},{"expanded":false,"children":[{"values":["LB40 Structural developmental anomalies of vulva"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["LB41 Structural 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Other specified structural developmental anomalies of the breast"]},{"values":["LB6Z Structural developmental anomalies of the breast, unspecified"],"expanded":false,"children":[]}],"expanded":false},{"expanded":false,"children":[{"values":["LB70 Structural developmental anomalies of cranium"],"expanded":false,"children":[{"values":["<a href=\"/entry/H02160\">H02160</a> Craniosynostoses"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H01207\">H01207</a> Trigonocephaly"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00475\">H00475</a> Enlarged parietal foramina/cranium bifidum"]},{"values":["<a href=\"/entry/H01105\">H01105</a> Cranio-lenticulo-sutural dysplasia"],"children":[],"expanded":false}]},{"values":["LB71 Structural developmental anomalies of facial bones"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["LB72 Structural developmental anomalies of shoulder girdle"]},{"values":["LB73 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href=\"/entry/H02647\">H02647</a> Macrodactyly"]}],"values":["LB97 Limb overgrowth"]},{"values":["LB98 Congenital deformities of feet"],"children":[{"values":["<a href=\"/entry/H00903\">H00903</a> Congenital clubfoot"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00929\">H00929</a> Congenital vertical talus"]}],"expanded":false},{"children":[{"expanded":false,"children":[],"values":["<a href=\"/entry/H00471\">H00471</a> Split-hand/foot malformation"]}],"expanded":false,"values":["LB99 Reduction defects of upper limb"]},{"expanded":false,"children":[{"values":["<a href=\"/entry/H00471\">H00471</a> Split-hand/foot malformation"],"expanded":false,"children":[]}],"values":["LB9A Reduction defects of lower limb"]},{"children":[{"expanded":false,"children":[],"values":["<a href=\"/entry/H00629\">H00629</a> Acheiropodia"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00636\">H00636</a> Tetra-amelia 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href=\"/entry/H01001\">H01001</a> COACH syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01811\">H01811</a> Arima syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02272\">H02272</a> CAPOS syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02431\">H02431</a> Cerebellar hypoplasia, epilepsy, and global developmental delay"]},{"values":["<a href=\"/entry/H02464\">H02464</a> Poretti-Boltshauser syndrome"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02833\">H02833</a> Brain malformation renal syndrome"]},{"values":["<a href=\"/entry/H00268\">H00268</a> Lissencephaly"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00792\">H00792</a> Warburg micro syndrome"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02117\">H02117</a> Neu-Laxova syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00616\">H00616</a> Bowen-Conradi syndrome"]},{"values":["<a href=\"/entry/H00840\">H00840</a> Pseudo-TORCH syndrome"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H00990\">H00990</a> Microcephaly, Amish type"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00991\">H00991</a> Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II)"]},{"values":["<a href=\"/entry/H00993\">H00993</a> Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I)"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H01872\">H01872</a> Microcephaly-capillary malformation syndrome"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01876\">H01876</a> Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01921\">H01921</a> MICPCH 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Morimoto-Ryu-Malicdan neuromuscular syndrome"]},{"values":["<a href=\"/entry/H02925\">H02925</a> Early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy"],"children":[],"expanded":false}]},{"values":["LD21 Syndromes with eye anomalies as a major feature"],"expanded":false,"children":[{"children":[],"expanded":false,"values":["<a href=\"/entry/H01904\">H01904</a> Microphthalmia with linear skin defects syndrome"]},{"values":["<a href=\"/entry/H02134\">H02134</a> Microphthalmia with limb anomalies"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H02170\">H02170</a> Microphthalmia, syndromic"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00673\">H00673</a> Weill-Marchesani syndrome"]},{"values":["<a href=\"/entry/H00826\">H00826</a> Blepharophimosis-ptosis-epicanthus inversus syndrome"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H01012\">H01012</a> Oculo-auricular syndrome"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02045\">H02045</a> Norrie disease"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02292\">H02292</a> Retinal dystrophy, juvenile cataracts, and short stature syndrome"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H02422\">H02422</a> Retinitis pigmentosa with skeletal anomalies"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02445\">H02445</a> Microcornea, myopic chorioretinal atrophy, and telecanthus"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02655\">H02655</a> Retinal dystrophy and microvillus inclusion disease"]},{"values":["<a href=\"/entry/H02794\">H02794</a> Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma"],"children":[],"expanded":false}]},{"values":["LD22 Syndromes with dental anomalies as a major 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href=\"/entry/H02068\">H02068</a> Hypochondroplasia"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01750\">H01750</a> Thanatophoric dysplasia"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00515\">H00515</a> Atelosteogenesis type II"]},{"values":["<a href=\"/entry/H02063\">H02063</a> Diastrophic dysplasia"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00207\">H00207</a> Rhizomelic chondrodysplasia punctata"]},{"values":["<a href=\"/entry/H00447\">H00447</a> HEM skeletal dysplasia"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H00496\">H00496</a> Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD)"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01194\">H01194</a> X-linked chondrodysplasia punctata"]},{"values":["<a href=\"/entry/H00436\">H00436</a> Osteopetrosis"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00452\">H00452</a> Buschke-Ollendorff syndrome"]},{"values":["<a href=\"/entry/H00434\">H00434</a> Camurati-Engelmann disease"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00444\">H00444</a> Osteopathia striata with cranial sclerosis"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H00450\">H00450</a> Worth type autosomal dominant osteosclerosis"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H00486\">H00486</a> Sclerosteosis"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H00490\">H00490</a> Diaphyseal dysplasia with anemia"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00491\">H00491</a> Craniometaphyseal dysplasia"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00508\">H00508</a> Blomstrand syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00613\">H00613</a> Infantile cortical hyperostosis"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00968\">H00968</a> Raine syndrome"]},{"values":["<a href=\"/entry/H01832\">H01832</a> Lenz-Majewski syndrome"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02631\">H02631</a> Melorheostosis"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02735\">H02735</a> Diaphyseal medullary stenosis with malignant fibrous histiocytoma"]},{"values":["<a href=\"/entry/H00122\">H00122</a> Multiple exostoses"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00493\">H00493</a> Heparan sulfate proteoglycan gene defects"]},{"values":["<a href=\"/entry/H00497\">H00497</a> Cherubism"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02127\">H02127</a> Yunis-Varon syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00443\">H00443</a> Osteoglophonic dysplasia"]},{"values":["<a href=\"/entry/H00498\">H00498</a> Gnathodiaphyseal dysplasia"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00521\">H00521</a> Cleidocranial dysplasia"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01018\">H01018</a> Metachondromatosis"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02558\">H02558</a> Craniotubular dysplasia, Ikegawa type"]},{"values":["<a href=\"/entry/H00445\">H00445</a> Osteoarthritis with mild chondrodysplasia"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H00474\">H00474</a> Schneckenbecken dysplasia"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00483\">H00483</a> Angel shaped phalangoepiphyseal dysplasia"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H00499\">H00499</a> Spondylocarpotarsal synostosis 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Fibrochondrogenesis"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02155\">H02155</a> Dyssegmental dysplasia"]},{"values":["<a href=\"/entry/H02183\">H02183</a> Parastremmatic dwarfism"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02184\">H02184</a> Metatropic dysplasia"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02186\">H02186</a> Spondyloepiphyseal dysplasia, Maroteaux type"]},{"values":["<a href=\"/entry/H02187\">H02187</a> Spondyloepimetaphyseal dysplasia"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02462\">H02462</a> Spondyloepiphyseal dysplasia"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02497\">H02497</a> Smith-McCort dysplasia"]},{"values":["<a href=\"/entry/H01821\">H01821</a> Spondylometaphyseal dysplasia with cone-rod dystrophy"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H01825\">H01825</a> Spondylometaphyseal dysplasia, Sedaghatian type"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H01830\">H01830</a> Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02185\">H02185</a> Spondylometaphyseal dysplasia"]},{"values":["<a href=\"/entry/H02732\">H02732</a> Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00678\">H00678</a> Achondrogenesis type IA"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02065\">H02065</a> Achondrogenesis type IB"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H02066\">H02066</a> Achondrogenesis type II"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00522\">H00522</a> Brachyolmia"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H01828\">H01828</a> Opsismodysplasia"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01844\">H01844</a> Diaphanospondylodysostosis"]},{"values":["<a href=\"/entry/H00495\">H00495</a> Eiken dysplasia"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00477\">H00477</a> Pseudoachondroplasia"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00476\">H00476</a> Multiple epiphyseal dysplasia"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02436\">H02436</a> Al-Gazali syndrome"]},{"values":["<a href=\"/entry/H02871\">H02871</a> Lowry-Wood syndrome"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00479\">H00479</a> Metaphyseal dysplasias"]},{"values":["<a href=\"/entry/H00518\">H00518</a> Metaphyseal dysplasia without hypotrichosis"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02823\">H02823</a> Osteosclerotic metaphyseal dysplasia"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00675\">H00675</a> Acrocapitofemoral dysplasia"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00900\">H00900</a> Geleophysic dysplasia"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02062\">H02062</a> Familial digital arthropathy-brachydactyly"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02228\">H02228</a> Acromicric dysplasia"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02229\">H02229</a> Terminal osseous dysplasia"]},{"values":["<a href=\"/entry/H00466\">H00466</a> Grebe dysplasia"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00468\">H00468</a> Acromesomelic dysplasia, Demirhan type"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00470\">H00470</a> Acromesomelic dysplasia, Maroteaux type"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02543\">H02543</a> Acromesomelic dysplasia"]},{"values":["<a href=\"/entry/H02786\">H02786</a> ENDOVE syndrome"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H00485\">H00485</a> Robinow syndrome"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00492\">H00492</a> SHOX-related short stature"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02154\">H02154</a> Omodysplasia"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02743\">H02743</a> KINSSHIP syndrome"]},{"values":["<a href=\"/entry/H02157\">H02157</a> Short-rib thoracic dysplasia"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00511\">H00511</a> Short rib-polydactyly syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00751\">H00751</a> Asphyxiating thoracic dystrophy"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00462\">H00462</a> Stuve-Wiedemann syndrome"]},{"values":["<a href=\"/entry/H02629\">H02629</a> Bent bone dysplasia syndrome"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02873\">H02873</a> Kyphomelic dysplasia"]},{"values":["<a href=\"/entry/H00509\">H00509</a> 3M syndrome"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00619\">H00619</a> Kenny-Caffey syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00622\">H00622</a> Hypoparathyroidism-retardation-dysmorphism syndrome"]},{"values":["<a href=\"/entry/H00992\">H00992</a> Seckel syndrome"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H02223\">H02223</a> Osteocraniostenosis"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00494\">H00494</a> Desbuquois syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01498\">H01498</a> Multiple joint dislocations, short 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href=\"/entry/H02233\">H02233</a> Alazami syndrome"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02280\">H02280</a> Complex lethal osteochondrodysplasia"]},{"values":["<a href=\"/entry/H02300\">H02300</a> Steel syndrome"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H02306\">H02306</a> Chondrodysplasia with joint dislocations, GPAPP type"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02349\">H02349</a> Odontochondrodysplasia"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02415\">H02415</a> Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome"]},{"values":["<a href=\"/entry/H02551\">H02551</a> Skeletal dysplasia with joint laxity and advanced bone age"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02742\">H02742</a> Congenital neuromuscular disorder with dysmorphic 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acrofacial dysostosis"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00528\">H00528</a> Frontonasal dysplasia"]},{"values":["<a href=\"/entry/H00850\">H00850</a> Frontorhiny"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H01884\">H01884</a> Auriculocondylar syndrome"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02210\">H02210</a> Acromelic frontonasal dysostosis"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02234\">H02234</a> Hamamy syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02640\">H02640</a> Vertebral hypersegmentation and orofacial anomalies"]}]},{"values":["LD26 Syndromes with limb anomalies as a major feature"],"children":[{"children":[],"expanded":false,"values":["<a href=\"/entry/H00467\">H00467</a> Fibular hypoplasia and complex brachydactyly"]},{"values":["<a href=\"/entry/H00853\">H00853</a> Cenani-Lenz syndactyly 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Tricho-dento-osseous syndrome"]},{"values":["<a href=\"/entry/H00503\">H00503</a> Ellis-van Creveld syndrome"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H00529\">H00529</a> Cranioectodermal dysplasia"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00540\">H00540</a> Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID)"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00571\">H00571</a> Johanson-Blizzard syndrome"]},{"values":["<a href=\"/entry/H00638\">H00638</a> Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00639\">H00639</a> Ectodermal dysplasia, ectrodactyly, and macular dystrophy"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00640\">H00640</a> Limb-mammary syndrome"]},{"values":["<a href=\"/entry/H00641\">H00641</a> ADULT 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href=\"/entry/H00781\">H00781</a> Schopf-Schulz-Passarge syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00796\">H00796</a> Dermatopathia pigmentosa reticularis"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00857\">H00857</a> Oligodontia-colorectal cancer syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00922\">H00922</a> Schinzel-Giedion midface retraction syndrome"]},{"values":["<a href=\"/entry/H00949\">H00949</a> Focal dermal hypoplasia"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00977\">H00977</a> Trichorhinophalangeal syndrome"]},{"values":["<a href=\"/entry/H01271\">H01271</a> Hypoparathyroidism with sensorineural deafness and renal dysplasia"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01403\">H01403</a> Coffin-Siris syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01905\">H01905</a> Trichomegaly"]},{"values":["<a href=\"/entry/H01966\">H01966</a> Cartilage-hair hypoplasia"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H02058\">H02058</a> Kohlschutter-Tonz syndrome"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02081\">H02081</a> Marshall syndrome"]},{"values":["<a href=\"/entry/H02083\">H02083</a> Focal facial dermal dysplasia"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02218\">H02218</a> DOORS syndrome"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02219\">H02219</a> DDOD syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02296\">H02296</a> Basan syndrome"]},{"values":["<a href=\"/entry/H02303\">H02303</a> Alopecia-mental retardation syndrome"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H02417\">H02417</a> Gingival fibromatosis with hypertrichosis"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H02474\">H02474</a> Blepharocheilodontic syndrome"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02691\">H02691</a> Scalp-ear-nipple syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02827\">H02827</a> Aplasia cutis-enamel dysplasia syndrome"]},{"values":["<a href=\"/entry/H02901\">H02901</a> GAPO syndrome"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02903\">H02903</a> CHAND syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01428\">H01428</a> Xeroderma pigmentosum"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00671\">H00671</a> Netherton syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00712\">H00712</a> KID/HID syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00739\">H00739</a> Ichthyosis with 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Inflammatory poikiloderma with hair abnormalities and acral keratoses"]},{"values":["<a href=\"/entry/H02758\">H02758</a> ACCES syndrome"],"children":[],"expanded":false}],"expanded":false},{"values":["LD28 Syndromes with connective tissue involvement as a major feature"],"expanded":false,"children":[{"children":[],"expanded":false,"values":["<a href=\"/entry/H00660\">H00660</a> Congenital contractural arachnodactyly"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00653\">H00653</a> Marfan syndrome"]},{"values":["<a href=\"/entry/H00800\">H00800</a> Loeys-Dietz syndrome"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H00659\">H00659</a> Shprintzen-Goldberg syndrome"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00661\">H00661</a> MASS phenotype"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H01385\">H01385</a> Rienhoff syndrome"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02720\">H02720</a> Meester-Loeys 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Arterial tortuosity syndrome"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02224\">H02224</a> Grange syndrome"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02502\">H02502</a> Joint laxity, short stature, and myopia"]},{"values":["<a href=\"/entry/H02654\">H02654</a> Boudin-Mortier syndrome"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02703\">H02703</a> VISS syndrome"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02830\">H02830</a> Arterial tortuosity-bone fragility syndrome"]}]},{"children":[{"expanded":false,"children":[],"values":["<a href=\"/entry/H01915\">H01915</a> Borjeson-Forssman-Lehmann syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02195\">H02195</a> MEHMO syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02267\">H02267</a> Wilson-Turner syndrome"]}],"expanded":false,"values":["LD29 Syndromes 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href=\"/entry/H02628\">H02628</a> Schimmelpenning-Feuerstein-Mims syndrome"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02722\">H02722</a> Nevus comedonicus"]}],"expanded":false},{"children":[{"values":["<a href=\"/entry/H02744\">H02744</a> Neurofacioskeletal syndrome with or without renal agenesis"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02798\">H02798</a> Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome"]}],"expanded":false,"values":["LD2E Syndromes with structural anomalies due to inborn errors of metabolism"]},{"values":["LD2F Syndromes with multiple structural anomalies, without predominant body system involvement"],"children":[{"children":[],"expanded":false,"values":["<a href=\"/entry/H00979\">H00979</a> Sacral defect with anterior meningocele"]},{"values":["<a href=\"/entry/H02129\">H02129</a> Prune belly 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href=\"/entry/H00556\">H00556</a> CHARGE syndrome"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00569\">H00569</a> Aarskog-Scott syndrome"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00570\">H00570</a> Kabuki syndrome"]},{"values":["<a href=\"/entry/H00572\">H00572</a> Roberts-SC phocomelia syndrome"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00573\">H00573</a> Townes-Brocks syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00574\">H00574</a> Coffin-Lowry syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00583\">H00583</a> Opitz-GBBB syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00611\">H00611</a> Popliteal pterygium syndrome (PPS)"]},{"values":["<a href=\"/entry/H00631\">H00631</a> Cornelia de Lange syndrome"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H00634\">H00634</a> Duane-radial ray syndrome"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00637\">H00637</a> Ulnar-mammary syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00685\">H00685</a> Bifid nose with or without anorectal and renal anomalies"]},{"values":["<a href=\"/entry/H00686\">H00686</a> Manitoba oculotrichoanal syndrome"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00709\">H00709</a> Birk Barel mental retardation syndrome (BBMRS)"]},{"values":["<a href=\"/entry/H00711\">H00711</a> Russell-Silver syndrome"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00753\">H00753</a> Urofacial syndrome"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00756\">H00756</a> Pitt-Hopkins syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00797\">H00797</a> Martsolf 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Adams-Oliver syndrome"]},{"values":["<a href=\"/entry/H01568\">H01568</a> 3C syndrome"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H01569\">H01569</a> CHOPS syndrome"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01573\">H01573</a> Zimmermann-Laband syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01745\">H01745</a> Cardiofaciocutaneous syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01747\">H01747</a> Costello syndrome"]},{"values":["<a href=\"/entry/H01793\">H01793</a> Young-Simpson syndrome"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H01794\">H01794</a> Genitopatellar syndrome"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H01795\">H01795</a> Blepharophimosis-mental retardation syndrome"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01797\">H01797</a> Webb-Dattani 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href=\"/entry/H02074\">H02074</a> Knobloch syndrome"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02082\">H02082</a> Floating-Harbor syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02087\">H02087</a> Vertebral, cardiac, renal, and limb defects syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02102\">H02102</a> Myhre syndrome"]},{"values":["<a href=\"/entry/H02180\">H02180</a> McKusick-Kaufman syndrome"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02190\">H02190</a> CBL syndrome"]},{"values":["<a href=\"/entry/H02191\">H02191</a> Noonan-like syndrome with loose anagen hair"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02198\">H02198</a> Pancreatic agenesis and congenital heart disease"]},{"values":["<a href=\"/entry/H02232\">H02232</a> CAGSSS 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facies"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02381\">H02381</a> Cleft palate, psychomotor retardation, and distinctive facial features"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02382\">H02382</a> Bainbridge-Ropers syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02383\">H02383</a> Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02391\">H02391</a> Infantile-onset multisystem neurologic, endocrine, and pancreatic disease"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02394\">H02394</a> Cleft palate, cardiac defects, and mental retardation"]},{"values":["<a href=\"/entry/H02453\">H02453</a> Congenital heart defects and ectodermal dysplasia"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02454\">H02454</a> Congenital heart defects, dysmorphic facial features, and 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href=\"/entry/H02607\">H02607</a> Short stature and microcephaly with genital anomalies"]},{"values":["<a href=\"/entry/H02619\">H02619</a> Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02625\">H02625</a> Primordial dwarfism-immunodeficiency-lipodystrophy syndrome"]},{"values":["<a href=\"/entry/H02641\">H02641</a> Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02650\">H02650</a> Menke-Hennekam syndrome"]},{"values":["<a href=\"/entry/H02694\">H02694</a> Alazami-Yuan syndrome"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02725\">H02725</a> Heart-hand syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02876\">H02876</a> Cantu 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defects"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02578\">H02578</a> Short stature, microcephaly, and endocrine dysfunction"]},{"values":["<a href=\"/entry/H02638\">H02638</a> Zaki syndrome"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02639\">H02639</a> Atelis syndrome"]},{"values":["<a href=\"/entry/H02663\">H02663</a> Braddock-Carey syndrome"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02667\">H02667</a> Takenouchi-Kosaki syndrome"]},{"values":["<a href=\"/entry/H02710\">H02710</a> Yuksel-Vogel-Bauer syndrome"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02733\">H02733</a> Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02747\">H02747</a> Oculogastrointestinal neurodevelopmental 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href=\"/entry/H00779\">H00779</a> Usher syndrome"]},{"values":["<a href=\"/entry/H00446\">H00446</a> Craniofacial-deafness-hand syndrome"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H00581\">H00581</a> Alport syndrome"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00706\">H00706</a> Bart-Pumphrey syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00727\">H00727</a> Athabascan brainstem dysgenesis syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H00803\">H00803</a> Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME)"]},{"values":["<a href=\"/entry/H00823\">H00823</a> ABCD syndrome"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["<a href=\"/entry/H00946\">H00946</a> Arts syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H01286\">H01286</a> Microtia hearing impairment and cleft 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href=\"/entry/H02355\">H02355</a> Deafness and myopia"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02430\">H02430</a> Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02435\">H02435</a> Deafness-infertility syndrome"]},{"values":["<a href=\"/entry/H02634\">H02634</a> Deafness, cataract, impaired intellectual development, and polyneuropathy"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02687\">H02687</a> Congenital deafness and adult-onset progressive leukoencephalopathy"]},{"values":["<a href=\"/entry/H02797\">H02797</a> Siddiqi syndrome"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02813\">H02813</a> Auroneurodental syndrome"]}]},{"values":["LD2Y Other specified multiple developmental anomalies or syndromes"],"children":[{"values":["<a href=\"/entry/H00417\">H00417</a> Alstrom syndrome"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H00418\">H00418</a> Bardet-Biedl syndrome"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01623\">H01623</a> MDPL syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02488\">H02488</a> Cardiac-urogenital syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02523\">H02523</a> Genitourinary and/or brain malformation syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02630\">H02630</a> Chitayat syndrome"]},{"values":["<a href=\"/entry/H02821\">H02821</a> Sandestig-Stefanova syndrome"],"children":[],"expanded":false}],"expanded":false},{"values":["LD2Z Multiple developmental anomalies or syndromes, unspecified"],"children":[],"expanded":false}],"values":["Multiple developmental anomalies or syndromes"]},{"values":["Chromosomal anomalies, excluding gene mutations"],"children":[{"values":["LD40 Complete 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href=\"/entry/H01769\">H01769</a> ZTTK syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H01913\">H01913</a> Renpenning syndrome"]},{"values":["<a href=\"/entry/H01914\">H01914</a> Christianson syndrome"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H01916\">H01916</a> Stocco dos Santos X-linked mental retardation syndrome"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H01920\">H01920</a> Partington syndrome"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H01922\">H01922</a> Infantile hypotonia with psychomotor retardation and characteristic facies"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H01928\">H01928</a> Smith-Kingsmore syndrome"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H02137\">H02137</a> Laurence-Moon syndrome"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02252\">H02252</a> PEHO syndrome"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02305\">H02305</a> RERE-related neurodevelopmental syndrome"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02325\">H02325</a> Schaaf-Yang syndrome"]},{"values":["<a href=\"/entry/H02337\">H02337</a> Skraban-Deardorff syndrome"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02338\">H02338</a> PEHO-like syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02346\">H02346</a> Intellectual developmental disorder with short stature"]},{"values":["<a href=\"/entry/H02353\">H02353</a> Hyperekplexia and epilepsy"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02363\">H02363</a> Ververi-Brady syndrome"]},{"values":["<a href=\"/entry/H02365\">H02365</a> Helsmoortel-van der Aa syndrome"],"expanded":false,"children":[]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02378\">H02378</a> Hypotonia, ataxia, and delayed development syndrome"]},{"values":["<a href=\"/entry/H02397\">H02397</a> Neurodevelopmental disorder with movement abnormalities or hypotonia"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02437\">H02437</a> Growth retardation, impaired intellectual development, hypotonia, and hepatopathy"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02459\">H02459</a> Syndromic neurodevelopmental disorder"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02460\">H02460</a> Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02461\">H02461</a> Neurodevelopmental disorder with microcephaly"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02463\">H02463</a> Syndromic intellectual developmental disorder"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02470\">H02470</a> Neurodevelopmental disorder with 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href=\"/entry/H02712\">H02712</a> Li-Campeau syndrome"]},{"values":["<a href=\"/entry/H02714\">H02714</a> Tessadori-Bicknell-van Haaften neurodevelopmental syndrome"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02715\">H02715</a> Neurodevelopmental disorder with defects of ubiquitin-proteasome system"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H02728\">H02728</a> Marbach-Schaaf neurodevelopmental syndrome"],"expanded":false,"children":[]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02734\">H02734</a> Hengel-Maroofian-Schols syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02746\">H02746</a> Alfadhel syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02752\">H02752</a> Tan-Almurshedi syndrome"]},{"values":["<a href=\"/entry/H02765\">H02765</a> Prieto syndrome"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02769\">H02769</a> Tolchin-Le Caignec syndrome"],"children":[],"expanded":false},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02782\">H02782</a> Fliedner-Zweier syndrome"]},{"expanded":false,"children":[],"values":["<a href=\"/entry/H02793\">H02793</a> Temtamy syndrome"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02803\">H02803</a> Neurodevelopmental disorder with histone modification defect"]},{"children":[],"expanded":false,"values":["<a href=\"/entry/H02804\">H02804</a> ReNU syndrome"]},{"values":["<a href=\"/entry/H02812\">H02812</a> Otofacial neurodevelopmental syndrome"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H02818\">H02818</a> Jeffries-Lakhani neurodevelopmental syndrome"],"children":[],"expanded":false},{"values":["<a href=\"/entry/H02824\">H02824</a> Abnormal hair, joint laxity, and developmental delay"],"expanded":false,"children":[]},{"values":["<a href=\"/entry/H02834\">H02834</a> Kariminejad-Reversade neurodevelopmental 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hand"],"children":[{"children":[],"expanded":false,"values":["NC50 Injury to fingernail"]},{"values":["NC51 Superficial injury of wrist or hand"],"expanded":false,"children":[]},{"values":["NC52 Open wound of wrist or hand"],"children":[],"expanded":false},{"values":["NC53 Fracture at wrist or hand level"],"children":[],"expanded":false},{"children":[],"expanded":false,"values":["NC54 Dislocation or strain or sprain of joints or ligaments at wrist or hand level"]},{"children":[],"expanded":false,"values":["NC55 Injury of nerves at wrist or hand level"]},{"children":[],"expanded":false,"values":["NC56 Injury of blood vessels at wrist or hand level"]},{"children":[],"expanded":false,"values":["NC57 Injury of muscle, fascia or tendon at wrist or hand level"]},{"expanded":false,"children":[],"values":["NC58 Crushing injury of wrist or hand"]},{"children":[],"expanded":false,"values":["NC59 Traumatic amputation of wrist or hand"]},{"expanded":false,"children":[],"values":["NC5A Multiple 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