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<!--
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UID=867398
|
||
ConceptID=C4021768
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of metabolism/homeostasis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867398</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C4021768</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Laboratory abnormality; Metabolism abnormality</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001939">HP:0001939</a></td></tr>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4021768[DISCUI]&test_type=Clinical" ref="ncbi_uid=867398">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=867398" ref="ncbi_uid=867398">V</a></span></span><span class="TLline">Abnormality of metabolism/homeostasis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="matched_ds">Abnormality of metabolism/homeostasis</span><ul><li><span class="TLline"><a href="/medgen/1701080" ref="tree=MeSH" title="MedGen record for Abnormal circulating metabolite concentration">Abnormal circulating metabolite concentration</a></span><ul><li><span class="TLline"><a href="/medgen/312393" ref="tree=MeSH" title="MedGen record for Abnormal blood ion concentration">Abnormal blood ion concentration</a></span><ul><li><span class="TLline"><a href="/medgen/869223" ref="tree=MeSH" title="MedGen record for Abnormal blood cation concentration">Abnormal blood cation concentration</a></span></li><li><span class="TLline"><a href="/medgen/868953" ref="tree=MeSH" title="MedGen record for Abnormal blood chloride concentration">Abnormal blood chloride concentration</a></span></li><li><span class="TLline"><a href="/medgen/867643" ref="tree=MeSH" title="MedGen record for Abnormal blood phosphate concentration">Abnormal blood phosphate concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863660" ref="tree=MeSH" title="MedGen record for Decreased circulating sulfate concentration">Decreased circulating sulfate concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863545" ref="tree=MeSH" title="MedGen record for Elevated circulating thiosulfate concentration">Elevated circulating thiosulfate concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1864085" ref="tree=MeSH" title="MedGen record for Abnormal circulating organic compound concentration">Abnormal circulating organic compound concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1692740" ref="tree=MeSH" title="MedGen record for Abnormal circulating amino sulfonic acid concentration">Abnormal circulating amino sulfonic acid concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863650" ref="tree=MeSH" title="MedGen record for Abnormal circulating beta-carotene concentration">Abnormal circulating beta-carotene concentration</a></span></li><li><span class="TLline"><a href="/medgen/1684680" ref="tree=MeSH" title="MedGen record for Abnormal circulating carbohydrate concentration">Abnormal circulating carbohydrate concentration</a></span></li><li><span class="TLline"><a href="/medgen/1684666" ref="tree=MeSH" title="MedGen record for Abnormal circulating carboxylic acid concentration">Abnormal circulating carboxylic acid concentration</a></span></li><li><span class="TLline"><a href="/medgen/1841701" ref="tree=MeSH" title="MedGen record for Abnormal circulating coenzyme concentration">Abnormal circulating coenzyme concentration</a></span></li><li><span class="TLline"><a href="/medgen/1786420" ref="tree=MeSH" title="MedGen record for Abnormal circulating collagen degradation product concentration">Abnormal circulating collagen degradation product concentration</a></span></li><li><span class="TLline"><a href="/medgen/866482" ref="tree=MeSH" title="MedGen record for Abnormal circulating creatine concentration">Abnormal circulating creatine concentration</a></span></li><li><span class="TLline"><a href="/medgen/892402" ref="tree=MeSH" title="MedGen record for Abnormal circulating lipid concentration">Abnormal circulating lipid concentration</a></span></li><li><span class="TLline"><a href="/medgen/870875" ref="tree=MeSH" title="MedGen record for Abnormal circulating nitrogen compound concentration">Abnormal circulating nitrogen compound concentration</a></span></li><li><span class="TLline"><a href="/medgen/1779829" ref="tree=MeSH" title="MedGen record for Abnormal circulating organic amino compound concentration">Abnormal circulating organic amino compound concentration</a></span></li><li><span class="TLline"><a href="/medgen/869387" ref="tree=MeSH" title="MedGen record for Abnormal circulating porphyrin concentration">Abnormal circulating porphyrin concentration</a></span></li><li><span class="TLline"><a href="/medgen/1644381" ref="tree=MeSH" title="MedGen record for Abnormal circulating selenium concentration">Abnormal circulating selenium concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863906" ref="tree=MeSH" title="MedGen record for Elevated circulating bile alcohol concentration">Elevated circulating bile alcohol concentration</a></span></li><li><span class="TLline"><a href="/medgen/1864225" ref="tree=MeSH" title="MedGen record for Reduced circulating squalene concentration">Reduced circulating squalene concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892289" ref="tree=MeSH" title="MedGen record for Abnormal circulating protein concentration">Abnormal circulating protein concentration</a></span><ul><li><span class="TLline"><a href="/medgen/868636" ref="tree=MeSH" title="MedGen record for Abnormal circulating albumin concentration">Abnormal circulating albumin concentration</a></span></li><li><span class="TLline"><a href="/medgen/1841543" ref="tree=MeSH" title="MedGen record for Abnormal circulating alpha-fetoprotein concentration">Abnormal circulating alpha-fetoprotein concentration</a></span></li><li><span class="TLline"><a href="/medgen/1687192" ref="tree=MeSH" title="MedGen record for Abnormal circulating amylase concentration">Abnormal circulating amylase concentration</a></span></li><li><span class="TLline"><a href="/medgen/1369272" ref="tree=MeSH" title="MedGen record for Abnormal circulating apolipoprotein concentration">Abnormal circulating apolipoprotein concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863990" ref="tree=MeSH" title="MedGen record for Abnormal circulating atrial natriuretic peptide pro-hormone concentration">Abnormal circulating atrial natriuretic peptide pro-hormone concentration</a></span></li><li><span class="TLline"><a href="/medgen/1623048" ref="tree=MeSH" title="MedGen record for Abnormal circulating beta-C-terminal telopeptide concentration">Abnormal circulating beta-C-terminal telopeptide concentration</a></span></li><li><span class="TLline"><a href="/medgen/898382" ref="tree=MeSH" title="MedGen record for Abnormal circulating C-peptide concentration">Abnormal circulating C-peptide concentration</a></span></li><li><span class="TLline"><a href="/medgen/1686782" ref="tree=MeSH" title="MedGen record for Abnormal circulating C-reactive protein concentration">Abnormal circulating C-reactive protein concentration</a></span></li><li><span class="TLline"><a href="/medgen/1726009" ref="tree=MeSH" title="MedGen record for Abnormal circulating ceruloplasmin concentration">Abnormal circulating ceruloplasmin concentration</a></span></li><li><span class="TLline"><a href="/medgen/1785637" ref="tree=MeSH" title="MedGen record for Abnormal circulating complement factor H related protein 1 concentration">Abnormal circulating complement factor H related protein 1 concentration</a></span></li><li><span class="TLline"><a href="/medgen/869169" ref="tree=MeSH" title="MedGen record for Abnormal circulating enzyme concentration">Abnormal circulating enzyme concentration</a></span></li><li><span class="TLline"><a href="/medgen/808243" ref="tree=MeSH" title="MedGen record for Abnormal circulating ferritin concentration">Abnormal circulating ferritin concentration</a></span></li><li><span class="TLline"><a href="/medgen/1780919" ref="tree=MeSH" title="MedGen record for Abnormal circulating fetuin A concentration">Abnormal circulating fetuin A concentration</a></span></li><li><span class="TLline"><a href="/medgen/1692253" ref="tree=MeSH" title="MedGen record for Abnormal circulating globulin concentration">Abnormal circulating globulin concentration</a></span></li><li><span class="TLline"><a href="/medgen/1644803" ref="tree=MeSH" title="MedGen record for Abnormal circulating glucose-6-phosphate dehydrogenase concentration">Abnormal circulating glucose-6-phosphate dehydrogenase concentration</a></span></li><li><span class="TLline"><a href="/medgen/1707291" ref="tree=MeSH" title="MedGen record for Abnormal circulating haptoglobin concentration">Abnormal circulating haptoglobin concentration</a></span></li><li><span class="TLline"><a href="/medgen/1634914" ref="tree=MeSH" title="MedGen record for Abnormal circulating hepcidin concentration">Abnormal circulating hepcidin concentration</a></span></li><li><span class="TLline"><a href="/medgen/1841555" ref="tree=MeSH" title="MedGen record for Abnormal circulating mannose-binding protein concentration">Abnormal circulating mannose-binding protein concentration</a></span></li><li><span class="TLline"><a href="/medgen/1841810" ref="tree=MeSH" title="MedGen record for Abnormal circulating membrane cofactor protein concentration">Abnormal circulating membrane cofactor protein concentration</a></span></li><li><span class="TLline"><a href="/medgen/1788192" ref="tree=MeSH" title="MedGen record for Abnormal circulating prealbumin concentration">Abnormal circulating prealbumin concentration</a></span></li><li><span class="TLline"><a href="/medgen/1384239" ref="tree=MeSH" title="MedGen record for Abnormal circulating thyroglobulin concentration">Abnormal circulating thyroglobulin concentration</a></span></li><li><span class="TLline"><a href="/medgen/1841918" ref="tree=MeSH" title="MedGen record for Abnormal circulating thyroxine-binding globulin concentration">Abnormal circulating thyroxine-binding globulin concentration</a></span></li><li><span class="TLline"><a href="/medgen/1712733" ref="tree=MeSH" title="MedGen record for Abnormal cystatin C level">Abnormal cystatin C level</a></span></li><li><span class="TLline"><a href="/medgen/1390394" ref="tree=MeSH" title="MedGen record for Abnormal insulin like growth factor binding protein acid labile subunit level">Abnormal insulin like growth factor binding protein acid labile subunit level</a></span></li><li><span class="TLline"><a href="/medgen/1387105" ref="tree=MeSH" title="MedGen record for Abnormal retinol-binding protein level">Abnormal retinol-binding protein level</a></span></li><li><span class="TLline"><a href="/medgen/870724" ref="tree=MeSH" title="MedGen record for Abnormality of the kinin-kallikrein system">Abnormality of the kinin-kallikrein system</a></span></li><li><span class="TLline"><a href="/medgen/1864269" ref="tree=MeSH" title="MedGen record for Decreased circulating ficolin 3 concentration">Decreased circulating ficolin 3 concentration</a></span></li><li><span class="TLline"><a href="/medgen/1053359" ref="tree=MeSH" title="MedGen record for Decreased circulating transcobalamin I concentration">Decreased circulating transcobalamin I concentration</a></span></li><li><span class="TLline"><a href="/medgen/1841932" ref="tree=MeSH" title="MedGen record for Decreased circulating transcobalamin II concentration">Decreased circulating transcobalamin II concentration</a></span></li><li><span class="TLline"><a href="/medgen/168057" ref="tree=MeSH" title="MedGen record for Deficiency of ferroxidase">Deficiency of ferroxidase</a></span></li><li><span class="TLline"><a href="/medgen/1054053" ref="tree=MeSH" title="MedGen record for Diminished circulating cationic trypsinogen concentration">Diminished circulating cationic trypsinogen concentration</a></span></li><li><span class="TLline"><a href="/medgen/1373345" ref="tree=MeSH" title="MedGen record for Elevated carcinoma antigen 125 level">Elevated carcinoma antigen 125 level</a></span></li><li><span class="TLline"><a href="/medgen/1864097" ref="tree=MeSH" title="MedGen record for Elevated circulating beta chorionic gonadotropin concentration">Elevated circulating beta chorionic gonadotropin concentration</a></span></li><li><span class="TLline"><a href="/medgen/1841653" ref="tree=MeSH" title="MedGen record for Elevated circulating CA19-9 concentration">Elevated circulating CA19-9 concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863535" ref="tree=MeSH" title="MedGen record for Elevated circulating calprotectin concentration">Elevated circulating calprotectin concentration</a></span></li><li><span class="TLline"><a href="/medgen/1378758" ref="tree=MeSH" title="MedGen record for Elevated circulating carcinoembryonic antigen concentration">Elevated circulating carcinoembryonic antigen concentration</a></span></li><li><span class="TLline"><a href="/medgen/1787173" ref="tree=MeSH" title="MedGen record for Elevated circulating cartilage oligomeric matrix protein concentration">Elevated circulating cartilage oligomeric matrix protein concentration</a></span></li><li><span class="TLline"><a href="/medgen/1716604" ref="tree=MeSH" title="MedGen record for Elevated circulating CCL18 level">Elevated circulating CCL18 level</a></span></li><li><span class="TLline"><a href="/medgen/1747650" ref="tree=MeSH" title="MedGen record for Elevated circulating CHI3L1 level">Elevated circulating CHI3L1 level</a></span></li><li><span class="TLline"><a href="/medgen/1863642" ref="tree=MeSH" title="MedGen record for Elevated circulating DNAJB9 protein concentration">Elevated circulating DNAJB9 protein concentration</a></span></li><li><span class="TLline"><a href="/medgen/1696341" ref="tree=MeSH" title="MedGen record for Elevated circulating E selectin level">Elevated circulating E selectin level</a></span></li><li><span class="TLline"><a href="/medgen/1863579" ref="tree=MeSH" title="MedGen record for Elevated circulating granulocyte-macrophage colony-stimulating factor concentration">Elevated circulating granulocyte-macrophage colony-stimulating factor concentration</a></span></li><li><span class="TLline"><a href="/medgen/1787040" ref="tree=MeSH" title="MedGen record for Elevated circulating myoglobin concentration">Elevated circulating myoglobin concentration</a></span></li><li><span class="TLline"><a href="/medgen/1775487" ref="tree=MeSH" title="MedGen record for Elevated circulating osteopontin level">Elevated circulating osteopontin level</a></span></li><li><span class="TLline"><a href="/medgen/1864358" ref="tree=MeSH" title="MedGen record for Elevated circulating soluble CD163 concentration">Elevated circulating soluble CD163 concentration</a></span></li><li><span class="TLline"><a href="/medgen/1784407" ref="tree=MeSH" title="MedGen record for Elevated circulating soluble CD25 concentration">Elevated circulating soluble CD25 concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863971" ref="tree=MeSH" title="MedGen record for Elevated circulating soluble FASL concentration">Elevated circulating soluble FASL concentration</a></span></li><li><span class="TLline"><a href="/medgen/1773022" ref="tree=MeSH" title="MedGen record for Elevated circulating tenascin-C level">Elevated circulating tenascin-C level</a></span></li><li><span class="TLline"><a href="/medgen/1863999" ref="tree=MeSH" title="MedGen record for Elevated circulating type I procollagen aminoterminal propeptide concentration">Elevated circulating type I procollagen aminoterminal propeptide concentration</a></span></li><li><span class="TLline"><a href="/medgen/927605" ref="tree=MeSH" title="MedGen record for Elevated prostate-specific antigen level">Elevated prostate-specific antigen level</a></span></li><li><span class="TLline"><a href="/medgen/871164" ref="tree=MeSH" title="MedGen record for Hyperpepsinogenemia I">Hyperpepsinogenemia I</a></span></li><li><span class="TLline"><a href="/medgen/75648" ref="tree=MeSH" title="MedGen record for Hyperproteinemia">Hyperproteinemia</a></span></li><li><span class="TLline"><a href="/medgen/581229" ref="tree=MeSH" title="MedGen record for Hypoproteinemia">Hypoproteinemia</a></span></li><li><span class="TLline"><a href="/medgen/1687328" ref="tree=MeSH" title="MedGen record for Increased circulating galectin-3 level">Increased circulating galectin-3 level</a></span></li><li><span class="TLline"><a href="/medgen/1700584" ref="tree=MeSH" title="MedGen record for Increased circulating surfactant protein level">Increased circulating surfactant protein level</a></span></li><li><span class="TLline"><a href="/medgen/1677064" ref="tree=MeSH" title="MedGen record for Increased circulating trypsinogen">Increased circulating trypsinogen</a></span></li><li><span class="TLline"><a href="/medgen/1670949" ref="tree=MeSH" title="MedGen record for Reduced circulating alpha-1-antitrypsin concentration">Reduced circulating alpha-1-antitrypsin concentration</a></span></li><li><span class="TLline"><a href="/medgen/1864050" ref="tree=MeSH" title="MedGen record for Reduced circulating cortisol-binding globulin concentration">Reduced circulating cortisol-binding globulin concentration</a></span></li><li><span class="TLline"><a href="/medgen/1702486" ref="tree=MeSH" title="MedGen record for Reduced circulating fibronectin level">Reduced circulating fibronectin level</a></span></li><li><span class="TLline"><a href="/medgen/1841716" ref="tree=MeSH" title="MedGen record for Reduced circulating matrix metalloproteinase 2 concentration">Reduced circulating matrix metalloproteinase 2 concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863552" ref="tree=MeSH" title="MedGen record for Reduced circulating NT-proANP concentration">Reduced circulating NT-proANP concentration</a></span></li><li><span class="TLline"><a href="/medgen/1815101" ref="tree=MeSH" title="MedGen record for Reduced circulating prekallikrein concentration">Reduced circulating prekallikrein concentration</a></span></li><li><span class="TLline"><a href="/medgen/1055170" ref="tree=MeSH" title="MedGen record for Reduced circulating progranulin concentration">Reduced circulating progranulin concentration</a></span></li><li><span class="TLline"><a href="/medgen/1864196" ref="tree=MeSH" title="MedGen record for Reduced circulating protein Z concentration">Reduced circulating protein Z concentration</a></span></li><li><span class="TLline"><a href="/medgen/1392848" ref="tree=MeSH" title="MedGen record for Reduced growth-hormone binding protein level">Reduced growth-hormone binding protein level</a></span></li><li><span class="TLline"><a href="/medgen/1382475" ref="tree=MeSH" title="MedGen record for Reduced insulin-like factor 3 level">Reduced insulin-like factor 3 level</a></span></li><li><span class="TLline"><a href="/medgen/1619390" ref="tree=MeSH" title="MedGen record for Reduced sex -hormone binding protein level">Reduced sex -hormone binding protein level</a></span></li><li><span class="TLline"><a href="/medgen/868478" ref="tree=MeSH" title="MedGen record for Reduced thyroxin-binding globulin">Reduced thyroxin-binding globulin</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1639186" ref="tree=MeSH" title="MedGen record for Increased level of propylene glycol in blood">Increased level of propylene glycol in blood</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1690735" ref="tree=MeSH" title="MedGen record for Abnormal drug response">Abnormal drug response</a></span><ul><li><span class="TLline"><a href="/medgen/22562" ref="tree=MeSH" title="MedGen record for Adverse drug response">Adverse drug response</a></span><ul><li><span class="TLline"><a href="/medgen/1731467" ref="tree=MeSH" title="MedGen record for Adverse Drug Reaction to Systemic Antibiotic">Adverse Drug Reaction to Systemic Antibiotic</a></span></li><li><span class="TLline"><a href="/medgen/896461" ref="tree=MeSH" title="MedGen record for Chemical and Drug Induced Liver Injury">Chemical and Drug Induced Liver Injury</a></span></li><li><span class="TLline"><a href="/medgen/1709769" ref="tree=MeSH" title="MedGen record for Chemotherapy-related Cognitive Impairment">Chemotherapy-related Cognitive Impairment</a></span></li><li><span class="TLline"><a href="/medgen/41663" ref="tree=MeSH" title="MedGen record for Drug allergy">Drug allergy</a></span></li><li><span class="TLline"><a href="/medgen/57937" ref="tree=MeSH" title="MedGen record for Drug-induced akathisia">Drug-induced akathisia</a></span></li><li><span class="TLline"><a href="/medgen/3935" ref="tree=MeSH" title="MedGen record for Drug-induced dyskinesia">Drug-induced dyskinesia</a></span></li><li><span class="TLline"><a href="/medgen/101800" ref="tree=MeSH" title="MedGen record for Injection site disorder">Injection site disorder</a></span></li><li><span class="TLline"><a href="/medgen/827251" ref="tree=MeSH" title="MedGen record for Metabolic Side Effects of Drugs and Substances">Metabolic Side Effects of Drugs and Substances</a></span></li><li><span class="TLline"><a href="/medgen/66719" ref="tree=MeSH" title="MedGen record for Ototoxicity">Ototoxicity</a></span></li><li><span class="TLline"><a href="/medgen/896523" ref="tree=MeSH" title="MedGen record for Propofol Infusion Syndrome">Propofol Infusion Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/152119" ref="tree=MeSH" title="MedGen record for Serotonin syndrome">Serotonin syndrome</a></span></li><li><span class="TLline"><a href="/medgen/509650" ref="tree=MeSH" title="MedGen record for Toxic myopathy">Toxic myopathy</a></span></li><li><span class="TLline"><a href="/medgen/509903" ref="tree=MeSH" title="MedGen record for Toxic optic neuropathy">Toxic optic neuropathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1707089" ref="tree=MeSH" title="MedGen record for Decreased blood drug concentration">Decreased blood drug concentration</a></span></li><li><span class="TLline"><a href="/medgen/1691772" ref="tree=MeSH" title="MedGen record for Increased blood drug concentration">Increased blood drug concentration</a></span></li><li><span class="TLline"><a href="/medgen/1699884" ref="tree=MeSH" title="MedGen record for Reduced drug efficacy">Reduced drug efficacy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1841674" ref="tree=MeSH" title="MedGen record for Abnormal enzyme concentration or activity">Abnormal enzyme concentration or activity</a></span><ul><li><span class="TLline"><a href="/medgen/1842067" ref="tree=MeSH" title="MedGen record for Abnormal aromatase activity">Abnormal aromatase activity</a></span><ul><li><span class="TLline"><a href="/medgen/1841678" ref="tree=MeSH" title="MedGen record for Elevated aromatase activity">Elevated aromatase activity</a></span></li><li><span class="TLline"><a href="/medgen/1842124" ref="tree=MeSH" title="MedGen record for Reduced aromatase activity">Reduced aromatase activity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1841554" ref="tree=MeSH" title="MedGen record for Abnormal circulating enzyme concentration or activity">Abnormal circulating enzyme concentration or activity</a></span><ul><li><span class="TLline"><a href="/medgen/83349" ref="tree=MeSH" title="MedGen record for 3-hydroxyisobutyryl-CoA hydrolase deficiency">3-hydroxyisobutyryl-CoA hydrolase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/82814" ref="tree=MeSH" title="MedGen record for 5-Oxoprolinase deficiency">5-Oxoprolinase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/868517" ref="tree=MeSH" title="MedGen record for Abnormal circulating aldolase concentration">Abnormal circulating aldolase concentration</a></span></li><li><span class="TLline"><a href="/medgen/1853241" ref="tree=MeSH" title="MedGen record for Abnormal circulating alpha mannosidase activity">Abnormal circulating alpha mannosidase activity</a></span></li><li><span class="TLline"><a href="/medgen/1853111" ref="tree=MeSH" title="MedGen record for Abnormal circulating alpha-L-fucosidase activity">Abnormal circulating alpha-L-fucosidase activity</a></span></li><li><span class="TLline"><a href="/medgen/1853118" ref="tree=MeSH" title="MedGen record for Abnormal circulating beta-mannosidase activity">Abnormal circulating beta-mannosidase activity</a></span></li><li><span class="TLline"><a href="/medgen/1645832" ref="tree=MeSH" title="MedGen record for Abnormal circulating biotinidase concentration">Abnormal circulating biotinidase concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863669" ref="tree=MeSH" title="MedGen record for Abnormal circulating hepatic transaminase concentration">Abnormal circulating hepatic transaminase concentration</a></span></li><li><span class="TLline"><a href="/medgen/892640" ref="tree=MeSH" title="MedGen record for Abnormal circulating lactate dehydrogenase concentration">Abnormal circulating lactate dehydrogenase concentration</a></span></li><li><span class="TLline"><a href="/medgen/1788301" ref="tree=MeSH" title="MedGen record for Abnormal circulating lipoprotein lipase concentration">Abnormal circulating lipoprotein lipase concentration</a></span></li><li><span class="TLline"><a href="/medgen/1646434" ref="tree=MeSH" title="MedGen record for Abnormal circulating superoxide dismutase activity">Abnormal circulating superoxide dismutase activity</a></span></li><li><span class="TLline"><a href="/medgen/1647568" ref="tree=MeSH" title="MedGen record for Abnormal circulating UDP glucose-4-epimerase concentration">Abnormal circulating UDP glucose-4-epimerase concentration</a></span></li><li><span class="TLline"><a href="/medgen/1842000" ref="tree=MeSH" title="MedGen record for Abnormal gamma-glutamyltransferase level">Abnormal gamma-glutamyltransferase level</a></span></li><li><span class="TLline"><a href="/medgen/871115" ref="tree=MeSH" title="MedGen record for Abnormal glycosidase enzyme activity">Abnormal glycosidase enzyme activity</a></span></li><li><span class="TLline"><a href="/medgen/1642749" ref="tree=MeSH" title="MedGen record for Abnormal hypoxanthine-guanine phosphoribosyltransferase level">Abnormal hypoxanthine-guanine phosphoribosyltransferase level</a></span></li><li><span class="TLline"><a href="/medgen/1814355" ref="tree=MeSH" title="MedGen record for Abnormal iduronate sulfatase concentration">Abnormal iduronate sulfatase concentration</a></span></li><li><span class="TLline"><a href="/medgen/1705289" ref="tree=MeSH" title="MedGen record for Abnormal phosphoribosylpyrophosphate synthetase level">Abnormal phosphoribosylpyrophosphate synthetase level</a></span></li><li><span class="TLline"><a href="/medgen/892397" ref="tree=MeSH" title="MedGen record for Abnormality of alkaline phosphatase level">Abnormality of alkaline phosphatase level</a></span></li><li><span class="TLline"><a href="/medgen/867422" ref="tree=MeSH" title="MedGen record for Abnormality of Krebs cycle metabolism">Abnormality of Krebs cycle metabolism</a></span></li><li><span class="TLline"><a href="/medgen/870879" ref="tree=MeSH" title="MedGen record for Abnormality of superoxide metabolism">Abnormality of superoxide metabolism</a></span></li><li><span class="TLline"><a href="/medgen/488960" ref="tree=MeSH" title="MedGen record for Aldehyde oxidase deficiency">Aldehyde oxidase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/75652" ref="tree=MeSH" title="MedGen record for Combined molybdoflavoprotein enzyme deficiency">Combined molybdoflavoprotein enzyme deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1381484" ref="tree=MeSH" title="MedGen record for Decreased 3-hydroxyacyl-CoA dehydrogenase level">Decreased 3-hydroxyacyl-CoA dehydrogenase level</a></span></li><li><span class="TLline"><a href="/medgen/1864284" ref="tree=MeSH" title="MedGen record for Decreased 3-hydroxyisobutyrate dehydrogenase activity">Decreased 3-hydroxyisobutyrate dehydrogenase activity</a></span></li><li><span class="TLline"><a href="/medgen/1814226" ref="tree=MeSH" title="MedGen record for Decreased acid ceramidase activity">Decreased acid ceramidase activity</a></span></li><li><span class="TLline"><a href="/medgen/375191" ref="tree=MeSH" title="MedGen record for Decreased acid sphingomyelinase activity">Decreased acid sphingomyelinase activity</a></span></li><li><span class="TLline"><a href="/medgen/1841963" ref="tree=MeSH" title="MedGen record for Decreased alpha-galactosidase A activity">Decreased alpha-galactosidase A activity</a></span></li><li><span class="TLline"><a href="/medgen/1684763" ref="tree=MeSH" title="MedGen record for Decreased beta-glucocerebrosidase level">Decreased beta-glucocerebrosidase level</a></span></li><li><span class="TLline"><a href="/medgen/1842006" ref="tree=MeSH" title="MedGen record for Decreased circulating acid maltase activity">Decreased circulating acid maltase activity</a></span></li><li><span class="TLline"><a href="/medgen/1841740" ref="tree=MeSH" title="MedGen record for Decreased circulating biotin concentration">Decreased circulating biotin concentration</a></span></li><li><span class="TLline"><a href="/medgen/1864184" ref="tree=MeSH" title="MedGen record for Decreased circulating carboxypeptidase N activity">Decreased circulating carboxypeptidase N activity</a></span></li><li><span class="TLline"><a href="/medgen/1863622" ref="tree=MeSH" title="MedGen record for Decreased circulating pancreatic isoamylase activity">Decreased circulating pancreatic isoamylase activity</a></span></li><li><span class="TLline"><a href="/medgen/1841742" ref="tree=MeSH" title="MedGen record for Decreased delta-aminolevulinate dehydratase activity">Decreased delta-aminolevulinate dehydratase activity</a></span></li><li><span class="TLline"><a href="/medgen/1713065" ref="tree=MeSH" title="MedGen record for Decreased glucosephosphate isomerase level">Decreased glucosephosphate isomerase level</a></span></li><li><span class="TLline"><a href="/medgen/1691449" ref="tree=MeSH" title="MedGen record for Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level">Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level</a></span></li><li><span class="TLline"><a href="/medgen/1378463" ref="tree=MeSH" title="MedGen record for Decreased lecithin cholesterol acyl transferase level">Decreased lecithin cholesterol acyl transferase level</a></span></li><li><span class="TLline"><a href="/medgen/376395" ref="tree=MeSH" title="MedGen record for Decreased methionine synthase activity">Decreased methionine synthase activity</a></span></li><li><span class="TLline"><a href="/medgen/1781136" ref="tree=MeSH" title="MedGen record for Decreased mucosal sucrase-isomaltase activity">Decreased mucosal sucrase-isomaltase activity</a></span></li><li><span class="TLline"><a href="/medgen/1841916" ref="tree=MeSH" title="MedGen record for Decreased Succinyl-CoA 3-ketoacid CoA transferase activity">Decreased Succinyl-CoA 3-ketoacid CoA transferase activity</a></span></li><li><span class="TLline"><a href="/medgen/1052853" ref="tree=MeSH" title="MedGen record for Diminished circulating hyaluronidase activity">Diminished circulating hyaluronidase activity</a></span></li><li><span class="TLline"><a href="/medgen/1864151" ref="tree=MeSH" title="MedGen record for Elevated circulating beta-glucuronidase activity">Elevated circulating beta-glucuronidase activity</a></span></li><li><span class="TLline"><a href="/medgen/1863902" ref="tree=MeSH" title="MedGen record for Elevated circulating chitotriosidase activity">Elevated circulating chitotriosidase activity</a></span></li><li><span class="TLline"><a href="/medgen/1853202" ref="tree=MeSH" title="MedGen record for Elevated circulating neuron-specific enolase concentration">Elevated circulating neuron-specific enolase concentration</a></span></li><li><span class="TLline"><a href="/medgen/1841940" ref="tree=MeSH" title="MedGen record for Elevated circulating pancreatic secretory trypsin inhibitor activity">Elevated circulating pancreatic secretory trypsin inhibitor activity</a></span></li><li><span class="TLline"><a href="/medgen/1725520" ref="tree=MeSH" title="MedGen record for Elevated total serum tryptase">Elevated total serum tryptase</a></span></li><li><span class="TLline"><a href="/medgen/481288" ref="tree=MeSH" title="MedGen record for Glyoxalase deficiency">Glyoxalase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1737278" ref="tree=MeSH" title="MedGen record for Increased circulating cathepsin D level">Increased circulating cathepsin D level</a></span></li><li><span class="TLline"><a href="/medgen/1719031" ref="tree=MeSH" title="MedGen record for Increased circulating pancreatic triacylglycerol lipase level">Increased circulating pancreatic triacylglycerol lipase level</a></span></li><li><span class="TLline"><a href="/medgen/335943" ref="tree=MeSH" title="MedGen record for Low cholesterol esterification rate">Low cholesterol esterification rate</a></span></li><li><span class="TLline"><a href="/medgen/481945" ref="tree=MeSH" title="MedGen record for Platelet-activating factor acetylhydrolase deficiency">Platelet-activating factor acetylhydrolase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1638582" ref="tree=MeSH" title="MedGen record for Propionyl-CoA carboxylase deficiency">Propionyl-CoA carboxylase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1841981" ref="tree=MeSH" title="MedGen record for Reduced 3-phosphoglycerate dehydrogenase activity">Reduced 3-phosphoglycerate dehydrogenase activity</a></span></li><li><span class="TLline"><a href="/medgen/871130" ref="tree=MeSH" title="MedGen record for Reduced acetaldehyde dehydrogenase level">Reduced acetaldehyde dehydrogenase level</a></span></li><li><span class="TLline"><a href="/medgen/1054221" ref="tree=MeSH" title="MedGen record for Reduced beta-hexosaminidase A activity">Reduced beta-hexosaminidase A activity</a></span></li><li><span class="TLline"><a href="/medgen/1800805" ref="tree=MeSH" title="MedGen record for Reduced beta-hexosaminidase B activity">Reduced beta-hexosaminidase B activity</a></span></li><li><span class="TLline"><a href="/medgen/1841860" ref="tree=MeSH" title="MedGen record for Reduced bifunctional protein activity">Reduced bifunctional protein activity</a></span></li><li><span class="TLline"><a href="/medgen/1842035" ref="tree=MeSH" title="MedGen record for Reduced circulating 3-ketoacyl-CoA thiolase concentration">Reduced circulating 3-ketoacyl-CoA thiolase concentration</a></span></li><li><span class="TLline"><a href="/medgen/871118" ref="tree=MeSH" title="MedGen record for Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity">Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity</a></span></li><li><span class="TLline"><a href="/medgen/1863982" ref="tree=MeSH" title="MedGen record for Reduced circulating 6-pyruvoyltetrahydropterin synthase activity">Reduced circulating 6-pyruvoyltetrahydropterin synthase activity</a></span></li><li><span class="TLline"><a href="/medgen/1864200" ref="tree=MeSH" title="MedGen record for Reduced circulating acyl-CoA oxidase activity">Reduced circulating acyl-CoA oxidase activity</a></span></li><li><span class="TLline"><a href="/medgen/1864356" ref="tree=MeSH" title="MedGen record for Reduced circulating adenosine deaminase-2 activity">Reduced circulating adenosine deaminase-2 activity</a></span></li><li><span class="TLline"><a href="/medgen/1864124" ref="tree=MeSH" title="MedGen record for Reduced circulating alpha-1,3-fucosyltransferase activity">Reduced circulating alpha-1,3-fucosyltransferase activity</a></span></li><li><span class="TLline"><a href="/medgen/1863916" ref="tree=MeSH" title="MedGen record for Reduced circulating aromatic L-amino acid decarboxylase activity">Reduced circulating aromatic L-amino acid decarboxylase activity</a></span></li><li><span class="TLline"><a href="/medgen/868475" ref="tree=MeSH" title="MedGen record for Reduced circulating catalase activity">Reduced circulating catalase activity</a></span></li><li><span class="TLline"><a href="/medgen/1703839" ref="tree=MeSH" title="MedGen record for Reduced circulating cholinesterase activity">Reduced circulating cholinesterase activity</a></span></li><li><span class="TLline"><a href="/medgen/1863822" ref="tree=MeSH" title="MedGen record for Reduced circulating dopamine beta-hydroxylase activity">Reduced circulating dopamine beta-hydroxylase activity</a></span></li><li><span class="TLline"><a href="/medgen/1863520" ref="tree=MeSH" title="MedGen record for Reduced circulating pyrimidine 5-prime-nucleotidase activity">Reduced circulating pyrimidine 5-prime-nucleotidase activity</a></span></li><li><span class="TLline"><a href="/medgen/1863521" ref="tree=MeSH" title="MedGen record for Reduced circulating xanthine oxidase activity">Reduced circulating xanthine oxidase activity</a></span></li><li><span class="TLline"><a href="/medgen/892350" ref="tree=MeSH" title="MedGen record for Reduced dihydropyrimidine dehydrogenase level">Reduced dihydropyrimidine dehydrogenase level</a></span></li><li><span class="TLline"><a href="/medgen/97988" ref="tree=MeSH" title="MedGen record for Reduced glutathione synthetase level">Reduced glutathione synthetase level</a></span></li><li><span class="TLline"><a href="/medgen/1841641" ref="tree=MeSH" title="MedGen record for Reduced heme oxygenase activity">Reduced heme oxygenase activity</a></span></li><li><span class="TLline"><a href="/medgen/867361" ref="tree=MeSH" title="MedGen record for Reduced level of N-acetylglucosaminyltransferase II">Reduced level of N-acetylglucosaminyltransferase II</a></span></li><li><span class="TLline"><a href="/medgen/1620002" ref="tree=MeSH" title="MedGen record for Reduced lysosomal acid lipase activity">Reduced lysosomal acid lipase activity</a></span></li><li><span class="TLline"><a href="/medgen/1772736" ref="tree=MeSH" title="MedGen record for Reduced mevalonate kinase activity">Reduced mevalonate kinase activity</a></span></li><li><span class="TLline"><a href="/medgen/892392" ref="tree=MeSH" title="MedGen record for Reduced orotidine 5-prime phosphate decarboxylase level">Reduced orotidine 5-prime phosphate decarboxylase level</a></span></li><li><span class="TLline"><a href="/medgen/1842072" ref="tree=MeSH" title="MedGen record for Reduced peroxisomal glutaryl-CoA oxidase activity">Reduced peroxisomal glutaryl-CoA oxidase activity</a></span></li><li><span class="TLline"><a href="/medgen/892453" ref="tree=MeSH" title="MedGen record for Reduced phenylalanine hydroxylase level">Reduced phenylalanine hydroxylase level</a></span></li><li><span class="TLline"><a href="/medgen/1841964" ref="tree=MeSH" title="MedGen record for Reduced short-chain acyl-CoA dehydrogenase activity">Reduced short-chain acyl-CoA dehydrogenase activity</a></span></li><li><span class="TLline"><a href="/medgen/1841871" ref="tree=MeSH" title="MedGen record for Reduced sterol 27-hydroxylase activity">Reduced sterol 27-hydroxylase activity</a></span></li><li><span class="TLline"><a href="/medgen/1841699" ref="tree=MeSH" title="MedGen record for Reduced sulfide:quinone oxidoreductase activity">Reduced sulfide:quinone oxidoreductase activity</a></span></li><li><span class="TLline"><a href="/medgen/1842076" ref="tree=MeSH" title="MedGen record for Reduced uroporphyrinogen decarboxylase activity">Reduced uroporphyrinogen decarboxylase activity</a></span></li><li><span class="TLline"><a href="/medgen/892399" ref="tree=MeSH" title="MedGen record for Reduced xanthine dehydrogenase level">Reduced xanthine dehydrogenase level</a></span></li><li><span class="TLline"><a href="/medgen/78695" ref="tree=MeSH" title="MedGen record for Sulfite oxidase deficiency">Sulfite oxidase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868154" ref="tree=MeSH" title="MedGen record for Abnormal erythrocyte enzyme concentration or activity">Abnormal erythrocyte enzyme concentration or activity</a></span><ul><li><span class="TLline"><a href="/medgen/1853197" ref="tree=MeSH" title="MedGen record for Abnormal erythrocyte adenosine deaminase activity">Abnormal erythrocyte adenosine deaminase activity</a></span></li><li><span class="TLline"><a href="/medgen/1634478" ref="tree=MeSH" title="MedGen record for Abnormal erythrocyte UDP glucose-4-epimerase concentration">Abnormal erythrocyte UDP glucose-4-epimerase concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863885" ref="tree=MeSH" title="MedGen record for Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity">Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity</a></span></li><li><span class="TLline"><a href="/medgen/1863497" ref="tree=MeSH" title="MedGen record for Decreased erythrocyte nicotinamide adenine dinucleotide-cytochrome b5 reductase activity">Decreased erythrocyte nicotinamide adenine dinucleotide-cytochrome b5 reductase activity</a></span></li><li><span class="TLline"><a href="/medgen/1863503" ref="tree=MeSH" title="MedGen record for Elevated red cell pyruvate kinase activity">Elevated red cell pyruvate kinase activity</a></span></li><li><span class="TLline"><a href="/medgen/1863686" ref="tree=MeSH" title="MedGen record for Reduced erythrocyte adenylate kinase activity">Reduced erythrocyte adenylate kinase activity</a></span></li><li><span class="TLline"><a href="/medgen/1853245" ref="tree=MeSH" title="MedGen record for Reduced erythrocyte arginase activity">Reduced erythrocyte arginase activity</a></span></li><li><span class="TLline"><a href="/medgen/1864367" ref="tree=MeSH" title="MedGen record for Reduced erythrocyte bisphosphoglycerate mutase activity">Reduced erythrocyte bisphosphoglycerate mutase activity</a></span></li><li><span class="TLline"><a href="/medgen/1863436" ref="tree=MeSH" title="MedGen record for Reduced erythrocyte galactokinase activity">Reduced erythrocyte galactokinase activity</a></span></li><li><span class="TLline"><a href="/medgen/1853189" ref="tree=MeSH" title="MedGen record for Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity">Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity</a></span></li><li><span class="TLline"><a href="/medgen/1864223" ref="tree=MeSH" title="MedGen record for Reduced erythrocyte gamma-glutamyl cysteine synthetase activity">Reduced erythrocyte gamma-glutamyl cysteine synthetase activity</a></span></li><li><span class="TLline"><a href="/medgen/1864348" ref="tree=MeSH" title="MedGen record for Reduced erythrocyte glutathione reductase activity">Reduced erythrocyte glutathione reductase activity</a></span></li><li><span class="TLline"><a href="/medgen/1864098" ref="tree=MeSH" title="MedGen record for Reduced erythrocyte hexokinase activity">Reduced erythrocyte hexokinase activity</a></span></li><li><span class="TLline"><a href="/medgen/1864208" ref="tree=MeSH" title="MedGen record for Reduced erythrocyte inosine triphosphatase activity">Reduced erythrocyte inosine triphosphatase activity</a></span></li><li><span class="TLline"><a href="/medgen/1853225" ref="tree=MeSH" title="MedGen record for Reduced erythrocyte porphobilinogen deaminase activity">Reduced erythrocyte porphobilinogen deaminase activity</a></span></li><li><span class="TLline"><a href="/medgen/1863516" ref="tree=MeSH" title="MedGen record for Reduced erythrocyte uroporphyrinogen III cosynthase activity">Reduced erythrocyte uroporphyrinogen III cosynthase activity</a></span></li><li><span class="TLline"><a href="/medgen/1369680" ref="tree=MeSH" title="MedGen record for Reduced red cell pyruvate kinase level">Reduced red cell pyruvate kinase level</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1841733" ref="tree=MeSH" title="MedGen record for Abnormal leukocyte enzyme concentration or activity">Abnormal leukocyte enzyme concentration or activity</a></span><ul><li><span class="TLline"><a href="/medgen/1841703" ref="tree=MeSH" title="MedGen record for Reduced leukocyte alpha-L-fucosidase activity">Reduced leukocyte alpha-L-fucosidase activity</a></span></li><li><span class="TLline"><a href="/medgen/1853192" ref="tree=MeSH" title="MedGen record for Reduced leukocyte alpha-mannosidase activity">Reduced leukocyte alpha-mannosidase activity</a></span></li><li><span class="TLline"><a href="/medgen/1841730" ref="tree=MeSH" title="MedGen record for Reduced leukocyte arylsulfatase A activity">Reduced leukocyte arylsulfatase A activity</a></span></li><li><span class="TLline"><a href="/medgen/1842073" ref="tree=MeSH" title="MedGen record for Reduced leukocyte arylsulfatase B activity">Reduced leukocyte arylsulfatase B activity</a></span></li><li><span class="TLline"><a href="/medgen/1853174" ref="tree=MeSH" title="MedGen record for Reduced leukocyte cathepsin D activity">Reduced leukocyte cathepsin D activity</a></span></li><li><span class="TLline"><a href="/medgen/1853254" ref="tree=MeSH" title="MedGen record for Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity">Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity</a></span></li><li><span class="TLline"><a href="/medgen/1841646" ref="tree=MeSH" title="MedGen record for Reduced leukocyte steroid sulfatase activity">Reduced leukocyte steroid sulfatase activity</a></span></li><li><span class="TLline"><a href="/medgen/1864230" ref="tree=MeSH" title="MedGen record for Reduced neutrophil myeloperoxidase activity">Reduced neutrophil myeloperoxidase activity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1863737" ref="tree=MeSH" title="MedGen record for Abnormal tissue enzyme concentration or activity">Abnormal tissue enzyme concentration or activity</a></span><ul><li><span class="TLline"><a href="/medgen/1853178" ref="tree=MeSH" title="MedGen record for Abnormal enzyme activity in cultured fibroblasts">Abnormal enzyme activity in cultured fibroblasts</a></span></li><li><span class="TLline"><a href="/medgen/1841895" ref="tree=MeSH" title="MedGen record for Abnormal enzyme activity in muscle tissue">Abnormal enzyme activity in muscle tissue</a></span></li><li><span class="TLline"><a href="/medgen/1842083" ref="tree=MeSH" title="MedGen record for Abnormal liver enzyme activity or concentration">Abnormal liver enzyme activity or concentration</a></span></li><li><span class="TLline"><a href="/medgen/1053057" ref="tree=MeSH" title="MedGen record for Abnormal tissue alpha-N-acetylglucosaminidase activity">Abnormal tissue alpha-N-acetylglucosaminidase activity</a></span></li><li><span class="TLline"><a href="/medgen/1863957" ref="tree=MeSH" title="MedGen record for Decreased tissue S-adenosylhomocysteine hydrolase activity">Decreased tissue S-adenosylhomocysteine hydrolase activity</a></span></li><li><span class="TLline"><a href="/medgen/1687152" ref="tree=MeSH" title="MedGen record for Decreased tissue succinic semialdehyde dehydrogenase activity">Decreased tissue succinic semialdehyde dehydrogenase activity</a></span></li><li><span class="TLline"><a href="/medgen/1052663" ref="tree=MeSH" title="MedGen record for Diminished tissue alpha-L-iduronidase activity">Diminished tissue alpha-L-iduronidase activity</a></span></li><li><span class="TLline"><a href="/medgen/1054414" ref="tree=MeSH" title="MedGen record for Diminished tissue dihydropteridine reductase activity">Diminished tissue dihydropteridine reductase activity</a></span></li><li><span class="TLline"><a href="/medgen/1863679" ref="tree=MeSH" title="MedGen record for Diminished tissue fumarylacetoacetate hydrolase activity">Diminished tissue fumarylacetoacetate hydrolase activity</a></span></li><li><span class="TLline"><a href="/medgen/1864140" ref="tree=MeSH" title="MedGen record for Diminished tissue glycogen branching enzyme activity">Diminished tissue glycogen branching enzyme activity</a></span></li><li><span class="TLline"><a href="/medgen/1864229" ref="tree=MeSH" title="MedGen record for Diminished tissue very long-chain acyl-CoA dehydrogenase activity">Diminished tissue very long-chain acyl-CoA dehydrogenase activity</a></span></li><li><span class="TLline"><a href="/medgen/1054482" ref="tree=MeSH" title="MedGen record for Elevated tissue alpha-N-acetylglucosaminidase activity">Elevated tissue alpha-N-acetylglucosaminidase activity</a></span></li><li><span class="TLline"><a href="/medgen/1053432" ref="tree=MeSH" title="MedGen record for Elevated tissue arylsulfatase A activity">Elevated tissue arylsulfatase A activity</a></span></li><li><span class="TLline"><a href="/medgen/1863506" ref="tree=MeSH" title="MedGen record for Low tissue ferrochelatase activity">Low tissue ferrochelatase activity</a></span></li><li><span class="TLline"><a href="/medgen/1863585" ref="tree=MeSH" title="MedGen record for Reduced tissue 3-methylglutaconyl-CoA hydratase activity">Reduced tissue 3-methylglutaconyl-CoA hydratase activity</a></span></li><li><span class="TLline"><a href="/medgen/1863809" ref="tree=MeSH" title="MedGen record for Reduced tissue acetyl-CoA carboxylase activity">Reduced tissue acetyl-CoA carboxylase activity</a></span></li><li><span class="TLline"><a href="/medgen/1863769" ref="tree=MeSH" title="MedGen record for Reduced tissue alpha-N-acetylglucosaminidase activity">Reduced tissue alpha-N-acetylglucosaminidase activity</a></span></li><li><span class="TLline"><a href="/medgen/1864029" ref="tree=MeSH" title="MedGen record for Reduced tissue arginine:glycine amidinotransferase activity">Reduced tissue arginine:glycine amidinotransferase activity</a></span></li><li><span class="TLline"><a href="/medgen/1864277" ref="tree=MeSH" title="MedGen record for Reduced tissue argininosuccinate synthetase activity">Reduced tissue argininosuccinate synthetase activity</a></span></li><li><span class="TLline"><a href="/medgen/1864178" ref="tree=MeSH" title="MedGen record for Reduced tissue aspartylglucosaminidase activity">Reduced tissue aspartylglucosaminidase activity</a></span></li><li><span class="TLline"><a href="/medgen/1841746" ref="tree=MeSH" title="MedGen record for Reduced tissue beta-glucuronidase activity">Reduced tissue beta-glucuronidase activity</a></span></li><li><span class="TLline"><a href="/medgen/1853286" ref="tree=MeSH" title="MedGen record for Reduced tissue beta-mannosidase activity">Reduced tissue beta-mannosidase activity</a></span></li><li><span class="TLline"><a href="/medgen/868522" ref="tree=MeSH" title="MedGen record for Reduced tissue carnitine O-palmitoyltransferase 2 activity">Reduced tissue carnitine O-palmitoyltransferase 2 activity</a></span></li><li><span class="TLline"><a href="/medgen/1864095" ref="tree=MeSH" title="MedGen record for Reduced tissue carnitine-acylcarnitine translocase activity">Reduced tissue carnitine-acylcarnitine translocase activity</a></span></li><li><span class="TLline"><a href="/medgen/1863678" ref="tree=MeSH" title="MedGen record for Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity">Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity</a></span></li><li><span class="TLline"><a href="/medgen/1864295" ref="tree=MeSH" title="MedGen record for Reduced tissue fatty aldehyde dehydrogenase activity">Reduced tissue fatty aldehyde dehydrogenase activity</a></span></li><li><span class="TLline"><a href="/medgen/1842090" ref="tree=MeSH" title="MedGen record for Reduced tissue fructose-1,6-bisphosphatase activity">Reduced tissue fructose-1,6-bisphosphatase activity</a></span></li><li><span class="TLline"><a href="/medgen/1815074" ref="tree=MeSH" title="MedGen record for Reduced tissue galactocerebrosidase activity">Reduced tissue galactocerebrosidase activity</a></span></li><li><span class="TLline"><a href="/medgen/1864034" ref="tree=MeSH" title="MedGen record for Reduced tissue gamma-glutamyltransferase activity">Reduced tissue gamma-glutamyltransferase activity</a></span></li><li><span class="TLline"><a href="/medgen/1863962" ref="tree=MeSH" title="MedGen record for Reduced tissue glycine cleavage enzyme activity">Reduced tissue glycine cleavage enzyme activity</a></span></li><li><span class="TLline"><a href="/medgen/1864224" ref="tree=MeSH" title="MedGen record for Reduced tissue guanidinoacetate methyltransferase activity">Reduced tissue guanidinoacetate methyltransferase activity</a></span></li><li><span class="TLline"><a href="/medgen/1864414" ref="tree=MeSH" title="MedGen record for Reduced tissue mannosyl-oligosaccharide glucosidase activity">Reduced tissue mannosyl-oligosaccharide glucosidase activity</a></span></li><li><span class="TLline"><a href="/medgen/1863666" ref="tree=MeSH" title="MedGen record for Reduced tissue medium-chain acyl-CoA dehydrogenase activity">Reduced tissue medium-chain acyl-CoA dehydrogenase activity</a></span></li><li><span class="TLline"><a href="/medgen/1054044" ref="tree=MeSH" title="MedGen record for Reduced tissue neuraminidase activity">Reduced tissue neuraminidase activity</a></span></li><li><span class="TLline"><a href="/medgen/1863596" ref="tree=MeSH" title="MedGen record for Reduced tissue palmitoyl-protein thioesterase activity">Reduced tissue palmitoyl-protein thioesterase activity</a></span></li><li><span class="TLline"><a href="/medgen/1864092" ref="tree=MeSH" title="MedGen record for Reduced tissue peptidase D activity">Reduced tissue peptidase D activity</a></span></li><li><span class="TLline"><a href="/medgen/1864283" ref="tree=MeSH" title="MedGen record for Reduced tissue phosphomannomutase activity">Reduced tissue phosphomannomutase activity</a></span></li><li><span class="TLline"><a href="/medgen/1864411" ref="tree=MeSH" title="MedGen record for Reduced tissue phosphomannose isomerase activity">Reduced tissue phosphomannose isomerase activity</a></span></li><li><span class="TLline"><a href="/medgen/1863620" ref="tree=MeSH" title="MedGen record for Reduced tissue phosphorylase kinase activity">Reduced tissue phosphorylase kinase activity</a></span></li><li><span class="TLline"><a href="/medgen/1863677" ref="tree=MeSH" title="MedGen record for Reduced tissue thymidine phosphorylase activity">Reduced tissue thymidine phosphorylase activity</a></span></li><li><span class="TLline"><a href="/medgen/1864014" ref="tree=MeSH" title="MedGen record for Reduced tissue tissue AICAR transformylase activity">Reduced tissue tissue AICAR transformylase activity</a></span></li><li><span class="TLline"><a href="/medgen/1864105" ref="tree=MeSH" title="MedGen record for Reduced tissue tripeptidyl peptidase 1 activity">Reduced tissue tripeptidyl peptidase 1 activity</a></span></li><li><span class="TLline"><a href="/medgen/1863970" ref="tree=MeSH" title="MedGen record for Reduced tissue type II iodothyronine deiodinase activity">Reduced tissue type II iodothyronine deiodinase activity</a></span></li><li><span class="TLline"><a href="/medgen/1863451" ref="tree=MeSH" title="MedGen record for Reduced tissue UDP-glucuronyl-transferase activity">Reduced tissue UDP-glucuronyl-transferase activity</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/614128" ref="tree=MeSH" title="MedGen record for Abnormal erythrocyte sedimentation rate">Abnormal erythrocyte sedimentation rate</a></span><ul><li><span class="TLline"><a href="/medgen/508793" ref="tree=MeSH" title="MedGen record for Decreased erythrocyte sedimentation rate">Decreased erythrocyte sedimentation rate</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868551" ref="tree=MeSH" title="MedGen record for Abnormal homeostasis">Abnormal homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/868550" ref="tree=MeSH" title="MedGen record for Abnormal energy expenditure">Abnormal energy expenditure</a></span><ul><li><span class="TLline"><a href="/medgen/868548" ref="tree=MeSH" title="MedGen record for Decreased resting energy expenditure">Decreased resting energy expenditure</a></span></li><li><span class="TLline"><a href="/medgen/868549" ref="tree=MeSH" title="MedGen record for Increased resting energy expenditure">Increased resting energy expenditure</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869176" ref="tree=MeSH" title="MedGen record for Abnormal glucose homeostasis">Abnormal glucose homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/869175" ref="tree=MeSH" title="MedGen record for Abnormal blood glucose concentration">Abnormal blood glucose concentration</a></span></li><li><span class="TLline"><a href="/medgen/1864109" ref="tree=MeSH" title="MedGen record for Failure to elevate lactate upon ischemic exercise test">Failure to elevate lactate upon ischemic exercise test</a></span></li><li><span class="TLline"><a href="/medgen/75760" ref="tree=MeSH" title="MedGen record for Glucose intolerance">Glucose intolerance</a></span></li><li><span class="TLline"><a href="/medgen/480966" ref="tree=MeSH" title="MedGen record for Impaired gluconeogenesis">Impaired gluconeogenesis</a></span></li><li><span class="TLline"><a href="/medgen/1635847" ref="tree=MeSH" title="MedGen record for Increased proinsulin:insulin ratio">Increased proinsulin:insulin ratio</a></span></li><li><span class="TLline"><a href="/medgen/350460" ref="tree=MeSH" title="MedGen record for Insulin insensitivity">Insulin insensitivity</a></span></li><li><span class="TLline"><a href="/medgen/43904" ref="tree=MeSH" title="MedGen record for Insulin resistance">Insulin resistance</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868032" ref="tree=MeSH" title="MedGen record for Abnormal sweat homeostasis">Abnormal sweat homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/868031" ref="tree=MeSH" title="MedGen record for Abnormal sweat electrolytes">Abnormal sweat electrolytes</a></span></li><li><span class="TLline"><a href="/medgen/347278" ref="tree=MeSH" title="MedGen record for Elevated sweat chloride">Elevated sweat chloride</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/7851" ref="tree=MeSH" title="MedGen record for Abnormality of acid-base homeostasis">Abnormality of acid-base homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/1675003" ref="tree=MeSH" title="MedGen record for Abnormal base excess">Abnormal base excess</a></span></li><li><span class="TLline"><a href="/medgen/1671081" ref="tree=MeSH" title="MedGen record for Abnormal serum anion gap">Abnormal serum anion gap</a></span></li><li><span class="TLline"><a href="/medgen/1671084" ref="tree=MeSH" title="MedGen record for Abnormal serum bicarbonate concentration">Abnormal serum bicarbonate concentration</a></span></li><li><span class="TLline"><a href="/medgen/1714" ref="tree=MeSH" title="MedGen record for Achlorhydria">Achlorhydria</a></span></li><li><span class="TLline"><a href="/medgen/541142" ref="tree=MeSH" title="MedGen record for Acidemia">Acidemia</a></span></li><li><span class="TLline"><a href="/medgen/1296" ref="tree=MeSH" title="MedGen record for Acidosis">Acidosis</a></span></li><li><span class="TLline"><a href="/medgen/526149" ref="tree=MeSH" title="MedGen record for Alkalemia">Alkalemia</a></span></li><li><span class="TLline"><a href="/medgen/1410" ref="tree=MeSH" title="MedGen record for Alkalosis">Alkalosis</a></span></li><li><span class="TLline"><a href="/medgen/1717835" ref="tree=MeSH" title="MedGen record for Elevated lactate:pyruvate ratio">Elevated lactate:pyruvate ratio</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/748573" ref="tree=MeSH" title="MedGen record for Abnormality of fluid regulation">Abnormality of fluid regulation</a></span><ul><li><span class="TLline"><a href="/medgen/1863588" ref="tree=MeSH" title="MedGen record for Abnormal serum osmolality">Abnormal serum osmolality</a></span></li><li><span class="TLline"><a href="/medgen/8273" ref="tree=MeSH" title="MedGen record for Dehydration">Dehydration</a></span></li><li><span class="TLline"><a href="/medgen/4451" ref="tree=MeSH" title="MedGen record for Edema">Edema</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/330395" ref="tree=MeSH" title="MedGen record for Abnormality of temperature regulation">Abnormality of temperature regulation</a></span><ul><li><span class="TLline"><a href="/medgen/507579" ref="tree=MeSH" title="MedGen record for Cold intolerance">Cold intolerance</a></span></li><li><span class="TLline"><a href="/medgen/5169" ref="tree=MeSH" title="MedGen record for Fever">Fever</a></span></li><li><span class="TLline"><a href="/medgen/66659" ref="tree=MeSH" title="MedGen record for Heat intolerance">Heat intolerance</a></span></li><li><span class="TLline"><a href="/medgen/5720" ref="tree=MeSH" title="MedGen record for Hypothermia">Hypothermia</a></span></li><li><span class="TLline"><a href="/medgen/1745742" ref="tree=MeSH" title="MedGen record for Inappropriate absence of fever">Inappropriate absence of fever</a></span></li><li><span class="TLline"><a href="/medgen/1830388" ref="tree=MeSH" title="MedGen record for Malignant hyperthermia">Malignant hyperthermia</a></span></li><li><span class="TLline"><a href="/medgen/329973" ref="tree=MeSH" title="MedGen record for Temperature instability">Temperature instability</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871171" ref="tree=MeSH" title="MedGen record for Excessive purine production">Excessive purine production</a></span></li><li><span class="TLline"><a href="/medgen/57440" ref="tree=MeSH" title="MedGen record for Food intolerance">Food intolerance</a></span><ul><li><span class="TLline"><a href="/medgen/234665" ref="tree=MeSH" title="MedGen record for Intolerance to protein">Intolerance to protein</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1863672" ref="tree=MeSH" title="MedGen record for Inappropriately low concentration of acetoacetate">Inappropriately low concentration of acetoacetate</a></span></li><li><span class="TLline"><a href="/medgen/1863840" ref="tree=MeSH" title="MedGen record for Inappropriately low concentration of beta-hydroxybutyrate">Inappropriately low concentration of beta-hydroxybutyrate</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1703500" ref="tree=MeSH" title="MedGen record for Abnormal metabolism">Abnormal metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/868547" ref="tree=MeSH" title="MedGen record for Abnormal glycosylation">Abnormal glycosylation</a></span><ul><li><span class="TLline"><a href="/medgen/868546" ref="tree=MeSH" title="MedGen record for Abnormal protein glycosylation">Abnormal protein glycosylation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/853215" ref="tree=MeSH" title="MedGen record for Abnormality of amino acid metabolism">Abnormality of amino acid metabolism</a></span></li><li><span class="TLline"><a href="/medgen/867647" ref="tree=MeSH" title="MedGen record for Abnormality of vitamin metabolism">Abnormality of vitamin metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/1853114" ref="tree=MeSH" title="MedGen record for Abnormal circulating vitamin A concentration">Abnormal circulating vitamin A concentration</a></span></li><li><span class="TLline"><a href="/medgen/1841518" ref="tree=MeSH" title="MedGen record for Abnormal circulating vitamin E concentration">Abnormal circulating vitamin E concentration</a></span></li><li><span class="TLline"><a href="/medgen/867296" ref="tree=MeSH" title="MedGen record for Abnormality of vitamin B metabolism">Abnormality of vitamin B metabolism</a></span></li><li><span class="TLline"><a href="/medgen/867484" ref="tree=MeSH" title="MedGen record for Abnormality of vitamin C metabolism">Abnormality of vitamin C metabolism</a></span></li><li><span class="TLline"><a href="/medgen/867646" ref="tree=MeSH" title="MedGen record for Abnormality of vitamin D metabolism">Abnormality of vitamin D metabolism</a></span></li><li><span class="TLline"><a href="/medgen/867573" ref="tree=MeSH" title="MedGen record for Abnormality of vitamin K metabolism">Abnormality of vitamin K metabolism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869161" ref="tree=MeSH" title="MedGen record for Impairment of fructose metabolism">Impairment of fructose metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/42105" ref="tree=MeSH" title="MedGen record for Hereditary fructosuria">Hereditary fructosuria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867282" ref="tree=MeSH" title="MedGen record for Impairment of galactose metabolism">Impairment of galactose metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/8943" ref="tree=MeSH" title="MedGen record for Galactose intolerance">Galactose intolerance</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1717154" ref="tree=MeSH" title="MedGen record for Abnormal salivary metabolite concentration">Abnormal salivary metabolite concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1712787" ref="tree=MeSH" title="MedGen record for Abnormal salivary cortisol level">Abnormal salivary cortisol level</a></span><ul><li><span class="TLline"><a href="/medgen/1710476" ref="tree=MeSH" title="MedGen record for Decreased salivary cortisol level">Decreased salivary cortisol level</a></span></li><li><span class="TLline"><a href="/medgen/1710102" ref="tree=MeSH" title="MedGen record for Increased salivary cortisol level">Increased salivary cortisol level</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1704511" ref="tree=MeSH" title="MedGen record for Abnormal tissue metabolite concentration">Abnormal tissue metabolite concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1815100" ref="tree=MeSH" title="MedGen record for Abnormal muscle tissue metabolite concentration">Abnormal muscle tissue metabolite concentration</a></span><ul><li><span class="TLline"><a href="/medgen/868581" ref="tree=MeSH" title="MedGen record for Abnormal muscle glycogen content">Abnormal muscle glycogen content</a></span></li><li><span class="TLline"><a href="/medgen/764872" ref="tree=MeSH" title="MedGen record for Decreased level of coenzyme Q10 in skeletal muscle">Decreased level of coenzyme Q10 in skeletal muscle</a></span></li><li><span class="TLline"><a href="/medgen/1863459" ref="tree=MeSH" title="MedGen record for Decreased muscle caveolin-3 level">Decreased muscle caveolin-3 level</a></span></li><li><span class="TLline"><a href="/medgen/1842138" ref="tree=MeSH" title="MedGen record for Decreased muscle lipoic acid content">Decreased muscle lipoic acid content</a></span></li><li><span class="TLline"><a href="/medgen/1864077" ref="tree=MeSH" title="MedGen record for Elevated tissue sphingomyelin concentration">Elevated tissue sphingomyelin concentration</a></span></li><li><span class="TLline"><a href="/medgen/373292" ref="tree=MeSH" title="MedGen record for Increased muscle lipid content">Increased muscle lipid content</a></span></li><li><span class="TLline"><a href="/medgen/892651" ref="tree=MeSH" title="MedGen record for Reduced muscle carnitine level">Reduced muscle carnitine level</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869199" ref="tree=MeSH" title="MedGen record for Abnormality of glycolipid metabolism">Abnormality of glycolipid metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/870889" ref="tree=MeSH" title="MedGen record for Abnormal glycosphingolipid metabolism">Abnormal glycosphingolipid metabolism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869200" ref="tree=MeSH" title="MedGen record for Abnormality of liposaccharide metabolism">Abnormality of liposaccharide metabolism</a></span></li><li><span class="TLline"><a href="/medgen/868393" ref="tree=MeSH" title="MedGen record for Copper accumulation in brain">Copper accumulation in brain</a></span></li><li><span class="TLline"><a href="/medgen/1713546" ref="tree=MeSH" title="MedGen record for Decreased adipose tissue tocopherol level">Decreased adipose tissue tocopherol level</a></span></li><li><span class="TLline"><a href="/medgen/1863846" ref="tree=MeSH" title="MedGen record for Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells">Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells</a></span></li><li><span class="TLline"><a href="/medgen/1635268" ref="tree=MeSH" title="MedGen record for Increased level of N-acetylneuraminic acid in fibroblasts">Increased level of N-acetylneuraminic acid in fibroblasts</a></span></li><li><span class="TLline"><a href="/medgen/1864249" ref="tree=MeSH" title="MedGen record for Reduced breast milk zinc concentration">Reduced breast milk zinc concentration</a></span></li><li><span class="TLline"><a href="/medgen/481027" ref="tree=MeSH" title="MedGen record for Very long chain fatty acid accumulation">Very long chain fatty acid accumulation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/7874" ref="tree=MeSH" title="MedGen record for Acute phase response">Acute phase response</a></span><ul><li><span class="TLline"><a href="/medgen/1684756" ref="tree=MeSH" title="MedGen record for Abnormal circulating calcium-phosphate regulating hormone concentration">Abnormal circulating calcium-phosphate regulating hormone concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1841979" ref="tree=MeSH" title="MedGen record for Abnormal circulating calcitonin concentration">Abnormal circulating calcitonin concentration</a></span></li><li><span class="TLline"><a href="/medgen/1630961" ref="tree=MeSH" title="MedGen record for Decreased circulating parathyroid hormone level">Decreased circulating parathyroid hormone level</a></span></li><li><span class="TLline"><a href="/medgen/167805" ref="tree=MeSH" title="MedGen record for Elevated circulating parathyroid hormone level">Elevated circulating parathyroid hormone level</a></span></li><li><span class="TLline"><a href="/medgen/1697976" ref="tree=MeSH" title="MedGen record for Increased circulating procalcitonin concentration">Increased circulating procalcitonin concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1788190" ref="tree=MeSH" title="MedGen record for Elevated circulating amyloid A concentration">Elevated circulating amyloid A concentration</a></span></li><li><span class="TLline"><a href="/medgen/892906" ref="tree=MeSH" title="MedGen record for Elevated circulating C-reactive protein concentration">Elevated circulating C-reactive protein concentration</a></span></li><li><span class="TLline"><a href="/medgen/1637596" ref="tree=MeSH" title="MedGen record for Elevated circulating hepcidin concentration">Elevated circulating hepcidin concentration</a></span></li><li><span class="TLline"><a href="/medgen/57727" ref="tree=MeSH" title="MedGen record for Elevated erythrocyte sedimentation rate">Elevated erythrocyte sedimentation rate</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/272" ref="tree=MeSH" title="MedGen record for Amyloidosis">Amyloidosis</a></span><ul><li><span class="TLline"><a href="/medgen/782429" ref="tree=MeSH" title="MedGen record for AA amyloidosis">AA amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/1800228" ref="tree=MeSH" title="MedGen record for AApoAIV amyloidosis">AApoAIV amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/1684787" ref="tree=MeSH" title="MedGen record for AH amyloidosis">AH amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/75674" ref="tree=MeSH" title="MedGen record for AL amyloidosis">AL amyloidosis</a></span><ul><li><span class="TLline"><a href="/medgen/107462" ref="tree=MeSH" title="MedGen record for Primary localized amyloidosis">Primary localized amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/129028" ref="tree=MeSH" title="MedGen record for Primary systemic amyloidosis">Primary systemic amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/1770032" ref="tree=MeSH" title="MedGen record for Recurrent AL Amyloidosis">Recurrent AL Amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/1616091" ref="tree=MeSH" title="MedGen record for Recurrent Primary Amyloidosis">Recurrent Primary Amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/1750857" ref="tree=MeSH" title="MedGen record for Refractory AL Amyloidosis">Refractory AL Amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/1611881" ref="tree=MeSH" title="MedGen record for Refractory Primary Amyloidosis">Refractory Primary Amyloidosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1801621" ref="tree=MeSH" title="MedGen record for ALECT2 amyloidosis">ALECT2 amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/1863833" ref="tree=MeSH" title="MedGen record for Amyloid goiter">Amyloid goiter</a></span></li><li><span class="TLline"><a href="/medgen/867772" ref="tree=MeSH" title="MedGen record for Amyloidosis of peripheral nerves">Amyloidosis of peripheral nerves</a></span></li><li><span class="TLline"><a href="/medgen/488730" ref="tree=MeSH" title="MedGen record for Cardiac amyloidosis">Cardiac amyloidosis</a></span><ul><li><span class="TLline"><a href="/medgen/1613161" ref="tree=MeSH" title="MedGen record for Monoclonal light chain cardiac amyloidosis">Monoclonal light chain cardiac amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/1709363" ref="tree=MeSH" title="MedGen record for Transthyretin Amyloid Cardiomyopathy">Transthyretin Amyloid Cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/1615958" ref="tree=MeSH" title="MedGen record for Transthyretin cardiac amyloidosis">Transthyretin cardiac amyloidosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/38998" ref="tree=MeSH" title="MedGen record for Cerebral amyloid angiopathy">Cerebral amyloid angiopathy</a></span><ul><li><span class="TLline"><a href="/medgen/414044" ref="tree=MeSH" title="MedGen record for Cerebral amyloid angiopathy, APP-related">Cerebral amyloid angiopathy, APP-related</a></span></li><li><span class="TLline"><a href="/medgen/82800" ref="tree=MeSH" title="MedGen record for ITM2B amyloidosis">ITM2B amyloidosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75676" ref="tree=MeSH" title="MedGen record for Conjunctival amyloidosis">Conjunctival amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/754383" ref="tree=MeSH" title="MedGen record for Corneal amyloidosis">Corneal amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/1830283" ref="tree=MeSH" title="MedGen record for Cutaneous amyloidosis">Cutaneous amyloidosis</a></span><ul><li><span class="TLline"><a href="/medgen/812175" ref="tree=MeSH" title="MedGen record for Cutaneous lichen amyloidosis">Cutaneous lichen amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/639717" ref="tree=MeSH" title="MedGen record for Cutaneous macular amyloidosis">Cutaneous macular amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/900275" ref="tree=MeSH" title="MedGen record for Cutaneous nodular amyloidosis">Cutaneous nodular amyloidosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82799" ref="tree=MeSH" title="MedGen record for Familial visceral amyloidosis, Ostertag type">Familial visceral amyloidosis, Ostertag type</a></span><ul><li><span class="TLline"><a href="/medgen/1842920" ref="tree=MeSH" title="MedGen record for AApoAI amyloidosis">AApoAI amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/1826152" ref="tree=MeSH" title="MedGen record for AFib amyloidosis">AFib amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/1842307" ref="tree=MeSH" title="MedGen record for ALys amyloidosis">ALys amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/1842484" ref="tree=MeSH" title="MedGen record for Apolipoprotein A-II amyloidosis">Apolipoprotein A-II amyloidosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/301243" ref="tree=MeSH" title="MedGen record for Finnish type amyloidosis">Finnish type amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/354872" ref="tree=MeSH" title="MedGen record for Generalized amyloid deposition">Generalized amyloid deposition</a></span></li><li><span class="TLline"><a href="/medgen/148146" ref="tree=MeSH" title="MedGen record for Hereditary amyloidosis">Hereditary amyloidosis</a></span><ul><li><span class="TLline"><a href="/medgen/104815" ref="tree=MeSH" title="MedGen record for Familial amyloid neuropathy">Familial amyloid neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/267610" ref="tree=MeSH" title="MedGen record for Hereditary cerebral hemorrhage with amyloidosis">Hereditary cerebral hemorrhage with amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/928338" ref="tree=MeSH" title="MedGen record for Variant ABeta2M amyloidosis">Variant ABeta2M amyloidosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/60107" ref="tree=MeSH" title="MedGen record for Polyneuropathy due to amyloidosis">Polyneuropathy due to amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/1054837" ref="tree=MeSH" title="MedGen record for Positive serum amyloid P scintigraphy">Positive serum amyloid P scintigraphy</a></span></li><li><span class="TLline"><a href="/medgen/675153" ref="tree=MeSH" title="MedGen record for Pulmonary amyloidosis">Pulmonary amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/113139" ref="tree=MeSH" title="MedGen record for Secondary Amyloidosis">Secondary Amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/87446" ref="tree=MeSH" title="MedGen record for Wild type ATTR amyloidosis">Wild type ATTR amyloidosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/7206" ref="tree=MeSH" title="MedGen record for Ketosis">Ketosis</a></span><ul><li><span class="TLline"><a href="/medgen/8351" ref="tree=MeSH" title="MedGen record for Diabetic ketoacidosis">Diabetic ketoacidosis</a></span></li><li><span class="TLline"><a href="/medgen/66722" ref="tree=MeSH" title="MedGen record for Hyperketonemia">Hyperketonemia</a></span><ul><li><span class="TLline"><a href="/medgen/1781355" ref="tree=MeSH" title="MedGen record for Elevated circulating acetoacetic acid concentration">Elevated circulating acetoacetic acid concentration</a></span></li><li><span class="TLline"><a href="/medgen/1780247" ref="tree=MeSH" title="MedGen record for Elevated circulating acetone concentration">Elevated circulating acetone concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/67434" ref="tree=MeSH" title="MedGen record for Ketoacidosis">Ketoacidosis</a></span><ul><li><span class="TLline"><a href="/medgen/349256" ref="tree=MeSH" title="MedGen record for Episodic ketoacidosis">Episodic ketoacidosis</a></span></li><li><span class="TLline"><a href="/medgen/381478" ref="tree=MeSH" title="MedGen record for Metabolic ketoacidosis">Metabolic ketoacidosis</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1863674" ref="tree=MeSH" title="MedGen record for Positive infectious agent test">Positive infectious agent test</a></span><ul><li><span class="TLline"><a href="/medgen/1864254" ref="tree=MeSH" title="MedGen record for Aqueous humor viral DNA positivity">Aqueous humor viral DNA positivity</a></span></li><li><span class="TLline"><a href="/medgen/1053757" ref="tree=MeSH" title="MedGen record for Demonstration of acid-fast bacilli in wound tissue">Demonstration of acid-fast bacilli in wound tissue</a></span></li><li><span class="TLline"><a href="/medgen/1863805" ref="tree=MeSH" title="MedGen record for Demonstration of Leishmania in tissue">Demonstration of Leishmania in tissue</a></span></li><li><span class="TLline"><a href="/medgen/1054396" ref="tree=MeSH" title="MedGen record for Fungal hair infection">Fungal hair infection</a></span></li><li><span class="TLline"><a href="/medgen/1052855" ref="tree=MeSH" title="MedGen record for Intestinal worm">Intestinal worm</a></span></li><li><span class="TLline"><a href="/medgen/1863631" ref="tree=MeSH" title="MedGen record for Nematode in retina">Nematode in retina</a></span></li><li><span class="TLline"><a href="/medgen/1864252" ref="tree=MeSH" title="MedGen record for Positive blood infectious agent test">Positive blood infectious agent test</a></span><ul><li><span class="TLline"><a href="/medgen/748422" ref="tree=MeSH" title="MedGen record for Bloodstream infectious agent">Bloodstream infectious agent</a></span></li><li><span class="TLline"><a href="/medgen/1864072" ref="tree=MeSH" title="MedGen record for Bloodstream pathogen-specific antibody positivity">Bloodstream pathogen-specific antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1863763" ref="tree=MeSH" title="MedGen record for Positive bloodstream infectious agent antigen test">Positive bloodstream infectious agent antigen test</a></span></li><li><span class="TLline"><a href="/medgen/1864067" ref="tree=MeSH" title="MedGen record for Positive bloodstream nucleic acid pathogen test">Positive bloodstream nucleic acid pathogen test</a></span></li><li><span class="TLline"><a href="/medgen/1053093" ref="tree=MeSH" title="MedGen record for Positive bloodstream tuberculosis-induced T-cell-based interferon-gamma release assay">Positive bloodstream tuberculosis-induced T-cell-based interferon-gamma release assay</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1053204" ref="tree=MeSH" title="MedGen record for Positive brain-tissue rabies nucleic acid test">Positive brain-tissue rabies nucleic acid test</a></span></li><li><span class="TLline"><a href="/medgen/1863796" ref="tree=MeSH" title="MedGen record for Positive CSF infectious agent test">Positive CSF infectious agent test</a></span><ul><li><span class="TLline"><a href="/medgen/1863776" ref="tree=MeSH" title="MedGen record for CSF pathogen-specific antibody positivity">CSF pathogen-specific antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1055528" ref="tree=MeSH" title="MedGen record for Positive CSF anti-measles antibody test">Positive CSF anti-measles antibody test</a></span></li><li><span class="TLline"><a href="/medgen/1863807" ref="tree=MeSH" title="MedGen record for Positive CSF cryptococcal antigen test">Positive CSF cryptococcal antigen test</a></span></li><li><span class="TLline"><a href="/medgen/1863775" ref="tree=MeSH" title="MedGen record for Positive CSF fungus test">Positive CSF fungus test</a></span></li><li><span class="TLline"><a href="/medgen/1864180" ref="tree=MeSH" title="MedGen record for Positive CSF mycobacterial culture">Positive CSF mycobacterial culture</a></span></li><li><span class="TLline"><a href="/medgen/1863746" ref="tree=MeSH" title="MedGen record for Positive CSF nucleic acid pathogen test">Positive CSF nucleic acid pathogen test</a></span></li><li><span class="TLline"><a href="/medgen/1863512" ref="tree=MeSH" title="MedGen record for Positive CSF Tropheryma whipplei bacteria microscopy">Positive CSF Tropheryma whipplei bacteria microscopy</a></span></li><li><span class="TLline"><a href="/medgen/1863575" ref="tree=MeSH" title="MedGen record for Positive CSF VDRL test">Positive CSF VDRL test</a></span></li><li><span class="TLline"><a href="/medgen/1863480" ref="tree=MeSH" title="MedGen record for Positive mycobacterium CSF culture">Positive mycobacterium CSF culture</a></span></li><li><span class="TLline"><a href="/medgen/1864233" ref="tree=MeSH" title="MedGen record for Positive mycobacterium CSF microscopy">Positive mycobacterium CSF microscopy</a></span></li><li><span class="TLline"><a href="/medgen/1863640" ref="tree=MeSH" title="MedGen record for Positive rubella CSF culture">Positive rubella CSF culture</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1054106" ref="tree=MeSH" title="MedGen record for Positive gastric CMV intranuclear inclusions">Positive gastric CMV intranuclear inclusions</a></span></li><li><span class="TLline"><a href="/medgen/1863989" ref="tree=MeSH" title="MedGen record for Positive oropharangeal infectious agent test">Positive oropharangeal infectious agent test</a></span><ul><li><span class="TLline"><a href="/medgen/1864390" ref="tree=MeSH" title="MedGen record for Positive nasopharyngeal corynebacterium diphtheriae nucleic acid test">Positive nasopharyngeal corynebacterium diphtheriae nucleic acid test</a></span></li><li><span class="TLline"><a href="/medgen/1864075" ref="tree=MeSH" title="MedGen record for Positive oropharynx poliovirus nucleic acid test">Positive oropharynx poliovirus nucleic acid test</a></span></li><li><span class="TLline"><a href="/medgen/1053894" ref="tree=MeSH" title="MedGen record for Positive saliva rabies nucleic acid test">Positive saliva rabies nucleic acid test</a></span></li><li><span class="TLline"><a href="/medgen/1864300" ref="tree=MeSH" title="MedGen record for Positive streptococcus A rapid antigen detection test">Positive streptococcus A rapid antigen detection test</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1053786" ref="tree=MeSH" title="MedGen record for Positive peritoneal fluid bacterial culture">Positive peritoneal fluid bacterial culture</a></span></li><li><span class="TLline"><a href="/medgen/1864022" ref="tree=MeSH" title="MedGen record for Positive respiratory tract infectious agent test">Positive respiratory tract infectious agent test</a></span><ul><li><span class="TLline"><a href="/medgen/1864400" ref="tree=MeSH" title="MedGen record for Positive lacrimal tract actinomyces culture">Positive lacrimal tract actinomyces culture</a></span></li><li><span class="TLline"><a href="/medgen/1863463" ref="tree=MeSH" title="MedGen record for Positive respiratory tract nucleic acid pathogen test">Positive respiratory tract nucleic acid pathogen test</a></span></li><li><span class="TLline"><a href="/medgen/1863773" ref="tree=MeSH" title="MedGen record for Sputum infectious agent">Sputum infectious agent</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1864362" ref="tree=MeSH" title="MedGen record for Positive skin infectious agent test">Positive skin infectious agent test</a></span><ul><li><span class="TLline"><a href="/medgen/508022" ref="tree=MeSH" title="MedGen record for Pediculus humanus capitis infestation">Pediculus humanus capitis infestation</a></span></li><li><span class="TLline"><a href="/medgen/1864189" ref="tree=MeSH" title="MedGen record for Positive cutaneous herpes simplex virus nucleic acid test">Positive cutaneous herpes simplex virus nucleic acid test</a></span></li><li><span class="TLline"><a href="/medgen/1053233" ref="tree=MeSH" title="MedGen record for Positive cutaneous varicella zoster virus nucleic acid test">Positive cutaneous varicella zoster virus nucleic acid test</a></span></li><li><span class="TLline"><a href="/medgen/1863496" ref="tree=MeSH" title="MedGen record for Positive Mazzotti test">Positive Mazzotti test</a></span></li><li><span class="TLline"><a href="/medgen/1864119" ref="tree=MeSH" title="MedGen record for Positive skin fungus test">Positive skin fungus test</a></span></li><li><span class="TLline"><a href="/medgen/1052913" ref="tree=MeSH" title="MedGen record for Positive skin scabies test">Positive skin scabies test</a></span></li><li><span class="TLline"><a href="/medgen/1864274" ref="tree=MeSH" title="MedGen record for Tzanck smear with multinucleated giant cells">Tzanck smear with multinucleated giant cells</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1841663" ref="tree=MeSH" title="MedGen record for Positive stool infectious agent test">Positive stool infectious agent test</a></span><ul><li><span class="TLline"><a href="/medgen/1841828" ref="tree=MeSH" title="MedGen record for Entamoeba histolytica antibody positive in stool">Entamoeba histolytica antibody positive in stool</a></span></li><li><span class="TLline"><a href="/medgen/1841904" ref="tree=MeSH" title="MedGen record for Positive fecal Clostridium botulinum test">Positive fecal Clostridium botulinum test</a></span></li><li><span class="TLline"><a href="/medgen/1864355" ref="tree=MeSH" title="MedGen record for Positive fecal cryptosporidium antigen test">Positive fecal cryptosporidium antigen test</a></span></li><li><span class="TLline"><a href="/medgen/1841594" ref="tree=MeSH" title="MedGen record for Positive fecal parasite test">Positive fecal parasite test</a></span></li><li><span class="TLline"><a href="/medgen/1053591" ref="tree=MeSH" title="MedGen record for Positive stool Cryptosporidium antigen test">Positive stool Cryptosporidium antigen test</a></span></li><li><span class="TLline"><a href="/medgen/1842074" ref="tree=MeSH" title="MedGen record for Positive stool giardia antigen">Positive stool giardia antigen</a></span></li><li><span class="TLline"><a href="/medgen/1863725" ref="tree=MeSH" title="MedGen record for Positive stool Giardia antigen test">Positive stool Giardia antigen test</a></span></li><li><span class="TLline"><a href="/medgen/1052653" ref="tree=MeSH" title="MedGen record for Positive Vibrio cholerae stool culture">Positive Vibrio cholerae stool culture</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1864339" ref="tree=MeSH" title="MedGen record for Positive synonvial fluid infectious agent test">Positive synonvial fluid infectious agent test</a></span><ul><li><span class="TLline"><a href="/medgen/1864216" ref="tree=MeSH" title="MedGen record for Positive mycobacterial synovial nucleic acid test">Positive mycobacterial synovial nucleic acid test</a></span></li><li><span class="TLline"><a href="/medgen/1863668" ref="tree=MeSH" title="MedGen record for Positive synonvial fluid culture">Positive synonvial fluid culture</a></span></li><li><span class="TLline"><a href="/medgen/1864383" ref="tree=MeSH" title="MedGen record for Positive synovial fluid gram stain">Positive synovial fluid gram stain</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1052798" ref="tree=MeSH" title="MedGen record for Positive tissue coccidioidomycosis culture">Positive tissue coccidioidomycosis culture</a></span></li><li><span class="TLline"><a href="/medgen/1054279" ref="tree=MeSH" title="MedGen record for Positive tissue encapsulated budding yeast test">Positive tissue encapsulated budding yeast test</a></span></li><li><span class="TLline"><a href="/medgen/1054757" ref="tree=MeSH" title="MedGen record for Positive tuberculin skin test">Positive tuberculin skin test</a></span></li><li><span class="TLline"><a href="/medgen/1057126" ref="tree=MeSH" title="MedGen record for Positive urine infectious agent test">Positive urine infectious agent test</a></span><ul><li><span class="TLline"><a href="/medgen/1841739" ref="tree=MeSH" title="MedGen record for Positive urine infectious agent nucleic acid test">Positive urine infectious agent nucleic acid test</a></span></li><li><span class="TLline"><a href="/medgen/1055281" ref="tree=MeSH" title="MedGen record for Positive urine Legionella pneumophila antigen test">Positive urine Legionella pneumophila antigen test</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1054568" ref="tree=MeSH" title="MedGen record for Scrotal worm">Scrotal worm</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1643655" ref="tree=MeSH" title="MedGen record for Presence of xenobiotic">Presence of xenobiotic</a></span><ul><li><span class="TLline"><a href="/medgen/1641496" ref="tree=MeSH" title="MedGen record for Blood xenobiotic">Blood xenobiotic</a></span><ul><li><span class="TLline"><a href="/medgen/1863536" ref="tree=MeSH" title="MedGen record for Elevated blood bismuth concentration">Elevated blood bismuth concentration</a></span></li><li><span class="TLline"><a href="/medgen/1864418" ref="tree=MeSH" title="MedGen record for Elevated blood cadmiun concentration">Elevated blood cadmiun concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863606" ref="tree=MeSH" title="MedGen record for Elevated blood ethylene glycol concentration">Elevated blood ethylene glycol concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863571" ref="tree=MeSH" title="MedGen record for Elevated blood mercury concentration">Elevated blood mercury concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863744" ref="tree=MeSH" title="MedGen record for Elevated thallium concentration">Elevated thallium concentration</a></span></li><li><span class="TLline"><a href="/medgen/1642103" ref="tree=MeSH" title="MedGen record for Plasma/serum xenobiotic">Plasma/serum xenobiotic</a></span></li><li><span class="TLline"><a href="/medgen/1685365" ref="tree=MeSH" title="MedGen record for Positive blood 1,3 beta glucan test">Positive blood 1,3 beta glucan test</a></span></li><li><span class="TLline"><a href="/medgen/1685019" ref="tree=MeSH" title="MedGen record for Positive blood acetaminophen test">Positive blood acetaminophen test</a></span></li><li><span class="TLline"><a href="/medgen/1707264" ref="tree=MeSH" title="MedGen record for Positive blood arsenic test">Positive blood arsenic test</a></span></li><li><span class="TLline"><a href="/medgen/1670999" ref="tree=MeSH" title="MedGen record for Positive blood barbiturate test">Positive blood barbiturate test</a></span></li><li><span class="TLline"><a href="/medgen/537427" ref="tree=MeSH" title="MedGen record for Positive blood lead test">Positive blood lead test</a></span></li><li><span class="TLline"><a href="/medgen/1703395" ref="tree=MeSH" title="MedGen record for Positive blood molindone test">Positive blood molindone test</a></span></li><li><span class="TLline"><a href="/medgen/1702559" ref="tree=MeSH" title="MedGen record for Positive norpropoxyphene blood test">Positive norpropoxyphene blood test</a></span></li><li><span class="TLline"><a href="/medgen/1052878" ref="tree=MeSH" title="MedGen record for Substantially elevated circulating ethanol concentration">Substantially elevated circulating ethanol concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1640936" ref="tree=MeSH" title="MedGen record for Gastric fluid xenobiotic">Gastric fluid xenobiotic</a></span><ul><li><span class="TLline"><a href="/medgen/1670990" ref="tree=MeSH" title="MedGen record for Positive gastric fluid barbiturate test">Positive gastric fluid barbiturate test</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1631167" ref="tree=MeSH" title="MedGen record for Hair xenobiotic">Hair xenobiotic</a></span><ul><li><span class="TLline"><a href="/medgen/1671065" ref="tree=MeSH" title="MedGen record for Positive hair barbiturate test">Positive hair barbiturate test</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1643200" ref="tree=MeSH" title="MedGen record for Stool xenobiotic">Stool xenobiotic</a></span><ul><li><span class="TLline"><a href="/medgen/1634799" ref="tree=MeSH" title="MedGen record for Meconium xenobiotic">Meconium xenobiotic</a></span></li><li><span class="TLline"><a href="/medgen/1670971" ref="tree=MeSH" title="MedGen record for Positive stool barbiturate test">Positive stool barbiturate test</a></span></li><li><span class="TLline"><a href="/medgen/1698364" ref="tree=MeSH" title="MedGen record for Positive stool methadone test">Positive stool methadone test</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1631449" ref="tree=MeSH" title="MedGen record for Urine xenobiotic">Urine xenobiotic</a></span><ul><li><span class="TLline"><a href="/medgen/1815058" ref="tree=MeSH" title="MedGen record for Elevated urine 3,5,6-trichloro-2-pyridinol level">Elevated urine 3,5,6-trichloro-2-pyridinol level</a></span></li><li><span class="TLline"><a href="/medgen/1864237" ref="tree=MeSH" title="MedGen record for Elevated urine bismuth level">Elevated urine bismuth level</a></span></li><li><span class="TLline"><a href="/medgen/1635753" ref="tree=MeSH" title="MedGen record for Increased cotinine level">Increased cotinine level</a></span></li><li><span class="TLline"><a href="/medgen/1670940" ref="tree=MeSH" title="MedGen record for Positive urine amphetamine test">Positive urine amphetamine test</a></span></li><li><span class="TLline"><a href="/medgen/1671110" ref="tree=MeSH" title="MedGen record for Positive urine barbiturate test">Positive urine barbiturate test</a></span></li><li><span class="TLline"><a href="/medgen/1671044" ref="tree=MeSH" title="MedGen record for Positive urine benzodiazepines test">Positive urine benzodiazepines test</a></span></li><li><span class="TLline"><a href="/medgen/1671067" ref="tree=MeSH" title="MedGen record for Positive urine cannabinoid test">Positive urine cannabinoid test</a></span></li><li><span class="TLline"><a href="/medgen/1671099" ref="tree=MeSH" title="MedGen record for Positive urine cocaine test">Positive urine cocaine test</a></span></li><li><span class="TLline"><a href="/medgen/1633390" ref="tree=MeSH" title="MedGen record for Positive urine methadone test">Positive urine methadone test</a></span></li><li><span class="TLline"><a href="/medgen/1697696" ref="tree=MeSH" title="MedGen record for Positive urine norcotinine test">Positive urine norcotinine test</a></span></li><li><span class="TLline"><a href="/medgen/1697649" ref="tree=MeSH" title="MedGen record for Positive urine norpropoxyphene test">Positive urine norpropoxyphene test</a></span></li><li><span class="TLline"><a href="/medgen/1671027" ref="tree=MeSH" title="MedGen record for Positive urine opioid test">Positive urine opioid test</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_1918"><div><strong>Autoimmune hemolytic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1918</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0002880</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">An autoimmune form of hemolytic anemia.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1918">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_10836"><div><strong>Polycystic ovaries</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10836</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0032460</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Polycystic ovary syndrome is a condition that affects women in their child-bearing years and alters the levels of multiple hormones, resulting in problems affecting many body systems.\n\nMost women with polycystic ovary syndrome produce excess male sex hormones (androgens), a condition called hyperandrogenism. Having too much of these hormones typically leads to excessive body hair growth (hirsutism), acne, and male pattern baldness.\n\nHyperandrogenism and abnormal levels of other sex hormones prevent normal release of egg cells from the ovaries (ovulation) and regular menstrual periods, leading to difficulty conceiving a child (subfertility) or a complete inability to conceive (infertility). For those who achieve pregnancy, there is an increased risk of complications and pregnancy loss. Due to irregular and infrequent menstruation and hormone abnormalities, affected women have an increased risk of cancer of the uterine lining (endometrial cancer).\n\nIn polycystic ovary syndrome, one or both ovaries can contain multiple small, immature ovarian follicles that can appear as cysts on medical imaging. Normally, ovarian follicles contain egg cells, which are released during ovulation. In polycystic ovary syndrome, abnormal hormone levels prevent follicles from growing and maturing to release egg cells. Instead, these immature follicles accumulate in the ovaries. Affected women can have 12 or more of these follicles. The number of these follicles usually decreases with age.\n\nAbout half of all women with polycystic ovary syndrome are overweight or have obesity and are at increased risk of a fatty liver. Additionally, many women with polycystic ovary syndrome have elevated levels of insulin, which is a hormone that helps control levels of blood glucose, also called blood sugar. By age 40, about 10 percent of overweight women with polycystic ovary syndrome develop abnormally high blood glucose levels (type 2 diabetes), and up to 35 percent develop prediabetes (higher-than-normal blood glucose levels that do not reach the cutoff for diabetes). Obesity and increased insulin levels (hyperinsulinemia) further increase the production of androgens in polycystic ovary syndrome.\n\nWomen with polycystic ovary syndrome are also at increased risk for developing metabolic syndrome, which is a group of conditions that include high blood pressure (hypertension), increased belly fat, high levels of unhealthy fats and low levels of healthy fats in the blood, and high blood glucose levels. About 20 percent of affected adults experience pauses in breathing during sleep (sleep apnea). Women with polycystic ovary syndrome are more likely than women in the general popluation to have mood disorders such as depression.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/10836">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_20684"><div><strong>Scurvy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20684</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036474</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Abnormally low concentrations of vitamin C in the blood.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/20684">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_104912"><div><strong>Gonadoblastoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>104912</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0206661</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/104912">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_65962"><div><strong>Desquamative interstitial pneumonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65962</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0238378</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Interstitial lung disease (ILD), or pneumonitis, is a heterogeneous group of disorders characterized pathologically by expansion of the interstitial compartment of the lung by inflammatory cells. Fibrosis occurs in many cases (Visscher and Myers, 2006). See also interstitial lung disease-1 (ILD1; 619611). Desquamative interstitial pneumonitis (DIP) was originally described as a pathologic entity by Liebow et al. (1965). Lung biopsy shows diffuse and uniform filling of alveoli by clusters of cells which Liebow et al. (1965) speculated to be 'desquamated pneumocytes.' Since then, these cells have been shown primarily to be pigmented alveolar macrophages. Other features include thickened alveolar septa with an infiltrate of inflammatory cells and plump, cuboidal type II pneumocytes. Mild collagen deposition without architectural distortion or honeycombing may be present. Different forms of ILD represent pathologic classifications based on histologic patterns rather than clinical diagnoses and may occur in a variety of clinical contexts (Visscher and Myers, 2006). Although DIP occurs most often as a sporadic disorder in adults during the third to fifth decade of life and is highly associated with smoking (Carrington et al., 1978), reports of a familial form with onset in infancy and early death suggest a genetic basis (Sharief et al., 1994). Cases of DIP reported in infants are often more severe and refractory to treatment than those reported in adults (Nogee et al., 2001).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/65962">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_78083"><div><strong>Cardiac valvular dysplasia, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78083</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0262436</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">FLNA deficiency is associated with a phenotypic spectrum that includes FLNA-related periventricular nodular heterotopia (Huttenlocher syndrome), congenital heart disease (patent ductus arteriosus, atrial and ventricular septal defects), valvular dystrophy, dilatation and rupture of the thoracic aorta, pulmonary disease (pulmonary hypertension, alveolar hypoplasia, emphysema, asthma, chronic bronchitis), gastrointestinal dysmotility and obstruction, joint hypermobility, and macrothrombocytopenia.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/78083">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_78538"><div><strong>Miller Dieker syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78538</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0265219</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">PAFAH1B1-related lissencephaly / subcortical band heterotopia (SBH) comprises a spectrum of severity. Affected newborns typically have mild-to-moderate hypotonia, feeding difficulties, and poor head control. During the first years, neurologic examination typically demonstrates poor visual tracking and response to sounds, axial hypotonia, and mild distal spasticity that can transition over time to more severe spasticity. Seizures occur in more than 90% of individuals with lissencephaly and often include infantile spasms. Seizures are often drug resistant, but even with good seizure control, the best developmental level achieved (excluding the few individuals with partial lissencephaly) is the equivalent of about age three to five months. In individuals with PAFAH1B1-related lissencephaly/SBH, developmental delay ranges from mild to severe. Other findings in PAFAH1B1-related lissencephaly/SBH include feeding issues and aspiration (which may result in need for gastrostomy tube placement), progressive microcephaly, and occasional developmental regression.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/78538">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_78649"><div><strong>Aspartylglucosaminuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78649</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268225</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Aspartylglucosaminuria is a lysosomal storage disorder characterized by developmental delay, intellectual disability, behavioral manifestations (hyperactivity in young children, anxiety and restlessness in adolescence, and apathy in adulthood), recurrent infections, musculoskeletal features, and characteristic craniofacial features (prominent supraorbital ridges, hypertelorism, periorbital fullness, short nose with broad nasal bridge, thick vermilion of the upper and lower lips, and macroglossia) that become more prominent with age. Additional neurologic manifestations can include seizures, poor balance and coordination, and progressive cerebral atrophy in adulthood. Macrocephaly is common. Musculoskeletal features include lordosis, scoliosis, and arthritis in adolescents and young adults; vertebral dysplasia and/or rib cage abnormalities; and progressive muscle wasting, joint contractures, bursitis, and osteoporosis in adulthood. Skin manifestations (facial seborrhea, rosacea, and angiofibromas), gastrointestinal manifestations, neutropenia, and thrombocytopenia occur in some individuals. The clinical manifestations of aspartylglucosaminuria worsen with age, and adults have progressive psychomotor decline.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/78649">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_82778"><div><strong>Dysmorphic sialidosis with renal involvement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82778</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268232</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/82778">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_120626"><div><strong>Testosterone 17-beta-dehydrogenase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120626</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268296</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">HSD17B3 deficiency is an autosomal recessive disorder that manifests, in males, as undermasculinization characterized by hypoplastic-to-normal internal genitalia (epididymis, vas deferens, seminal vesicles, and ejaculatory ducts) but female external genitalia and the absence of a prostate. This phenotype is caused by inadequate testicular synthesis of testosterone, which, in turn, results in insufficient formation of dihydrotestosterone in the anlage of the external genitalia and prostate during fetal development. At the expected time of puberty, there is a marked increase in plasma leuteinizing hormone and, consequently, in testicular secretion of androstenedione. Hence, a diagnostic hallmark of this disorder is a decreased plasma testosterone-to-androstenedione ratio. Significant amounts of the circulating androstenedione are, however, converted to testosterone, in peripheral tissues, thereby causing virilization (summary by Lindqvist et al., 2001).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/120626">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_75667"><div><strong>3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75667</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268297</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Pseudovaginal perineoscrotal hypospadias is a form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75667">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120637"><div><strong>Ethanolaminosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120637</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268423</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120637">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75686"><div><strong>Hooft disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75686</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268479</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75686">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82821"><div><strong>Hyperleucine-isoleucinemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82821</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268574</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82821">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_124446"><div><strong>Kerion celsi</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124446</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0276742</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Kerion is an erythematous, boggy, tender, often sterile, weeping nodule or plaque with pustules and draining sinuses. Hair in these areas appears lusterless, brittle, and is easily plucked. Kerion can be solitary or multiple but is usually unilateral. Patients with inflammatory tinea barbae may have constitutional symptoms like fever and malaise. Kerion is a coalesced sterile pustule, but occasionally they can get superinfected with cutaneous bacteria and develop regional lymphadenopathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/124446">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_83299"><div><strong>Rutland ciliary disorientation syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83299</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0340038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83299">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_87430"><div><strong>Thyroglobulin synthesis defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87430</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0342196</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome.\n\nCongenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.\n\nSigns and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.\n\nCongenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87430">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_83336"><div><strong>Fetal iodine deficiency disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83336</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0342200</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severely reduced physical and mental growth associated with pyramidal and extrapyramidal signs and symptoms, due to dietary iodine deficiency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83336">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_90993"><div><strong>Transcobalamin I deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90993</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0342700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare, genetic, benign disorder of cobalamin transport, due to variable degrees of transcobalamin I deficiency, characterized by mildly low to almost undetectable plasma transcobalamin I levels and slighly low to absent serum cobalamin levels. Normal methylmalonic acid and homocysteine serum values and absence of megaloblastic anemia are reported. No specific clinical manifestations are associated and patients are typically asymptomatic.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90993">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_83352"><div><strong>Thiopurine S-methyltransferase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83352</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0342801</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The thiopurines include azathioprine (a pro-drug for mercaptopurine), mercaptopurine and thioguanine. They are used to treat a variety of immunological disorders such as rheumatoid arthritis, non- Hodgkin lymphoma and ulcerative colitis. Both mercaptopurine and thioguanine can exert cytotoxic effects through the formation of thioguanine nucleotides (TGNs), active metabolites that incorporate into DNA. Mercaptopurine and thioguanine are directly inactivated by thiopurine S-methyltransferase (TPMT). Individuals with two nonfunctional TPMT alleles are at 100% risk of potentially fatal myelosuppression, due to an increased buildup of toxic TGNs. Alternative agents or a drastically reduced dose are recommended for patients with this genotype. Patients heterozygous for a nonfunctional TPMT allele are at increased risk of myelosuppression, and reduced dosing is recommended for these individuals. These dosing guidelines have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83352">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_91162"><div><strong>Carbohydrate-deficient glycoprotein syndrome type III</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91162</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0349655</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital disorders of glycosylation (CDGs) are divided into 2 main groups: type I CDGs (see, e.g., 212065) comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein, whereas type II CDGs (see, e.g., 212066) refer to defects in the trimming and processing of the protein-bound glycans either late in the endoplasmic reticulum or the Golgi compartments. Conventionally, untyped and unclassified cases are labeled 'CDG-x' (Orlean, 2000; Marquardt and Denecke, 2003). The phenotypes described in this entry most likely do not represent a single disorder, but have been referred by the authors as CDG-x and are included here pending further molecular characterization. In a review of CDGs, Marquardt and Denecke (2003) stated that more than 20% of CDG patients identified still cannot be ascribed to a known enzyme defect and are thus named CDG-x.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/91162">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_96015"><div><strong>Myeloperoxidase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96015</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0398595</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare primary immunodeficiency due to a defect in innate immunity characterized by a marked decrease or absence of myeloperoxidase activity in neutrophils and monocytes. Clinically, most patients are asymptomatic. Occasionally, severe infectious complications may occur, particularly recurrent candida infections, being especially severe in the setting of comorbid diabetes mellitus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96015">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_164207"><div><strong>Slow acetylator due to N-acetyltransferase enzyme variant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>164207</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0878587</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/164207">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_203368"><div><strong>Salla disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>203368</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1096903</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Free sialic acid storage disorders (FSASDs) are a spectrum of neurodegenerative disorders resulting from increased lysosomal storage of free sialic acid. Historically, FSASD was divided into separate allelic disorders: Salla disease, intermediate severe Salla disease, and infantile free sialic acid storage disease (ISSD). The mildest type was Salla disease, characterized by normal appearance and absence of neurologic findings at birth, followed by slowly progressive neurologic deterioration resulting in mild-to-moderate psychomotor delays, spasticity, athetosis, and epileptic seizures. Salla disease was named for a municipality in Finnish Lapland where a specific founder variant is relatively prevalent. However, the term Salla has been used in the literature to refer to less severe FSASD. More severe FSASD is historically referred to as ISSD, and is characterized by severe developmental delay, coarse facial features, hepatosplenomegaly, and cardiomegaly; death usually occurs in early childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/203368">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_282890"><div><strong>Sjogren syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>282890</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1527336</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sjogren syndrome is an autoimmune disease that mainly affects the exocrine glands. It is clinically characterized by keratoconjunctivitis sicca and xerostomia (Goransson et al., 2006). See 200400 for association of Sjogren syndrome with achalasia in sisters.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/282890">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_351514"><div><strong>Macular corneal dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351514</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1636149</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Macular corneal dystrophy (MCD) is an autosomal recessive disorder in which progressive punctate opacities in the cornea result in bilateral loss of vision, eventually necessitating corneal transplantation. MCD is classified into 2 subtypes, type I and type II, defined by the respective absence and presence of sulfated keratan sulfate in the patient serum, although both types have clinically indistinguishable phenotypes (summary by Akama et al., 2000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/351514">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_318191"><div><strong>Spinal arachnoiditis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318191</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1710146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318191">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_318658"><div><strong>Neuronal intestinal dysplasia, type B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318658</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1832589</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318658">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_323088"><div><strong>Disorder due cytochrome p450 CYP2D6 variant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323088</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1837154</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323088">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333150"><div><strong>Macrocytosis, familial</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333150</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1838656</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333150">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333322"><div><strong>Properdin deficiency, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333322</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1839454</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Properdin (factor P) is a plasma protein that is active in the alternative complement pathway of the innate immune system. It is a positive regulatory factor that binds to many microbial surfaces to stabilize the C3b,Bb convertase. Deficiency of properdin is associated in particular with a heightened susceptibility to Neisseria species (Janeway et al., 2001).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333322">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_374834"><div><strong>Glomuvenous malformation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374834</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1841984</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Glomuvenous malformations, also known as 'venous malformations with glomus cells' or glomangiomas, are similar to mucocutaneous venous malformations (VMCM; 600195), but clinically are distinguishable: they have a cobble-stone appearance, have a consistency harder than that of venous malformations, and are painful on palpation. Histologically, GVMs are distinguishable by the presence of pathognomonic rounded cells (glomus cells) around the distended vein-like channels. The term glomus (Latin for ball) stems from the morphologically similar contractile cells of the Sucquet-Hoyer arteriovenous anastomoses in glomus bodies that are involved in cutaneous thermoregulation. Glomus cells in GVMs appear to be incompletely or improperly differentiated vascular smooth muscle cells, since they stain positively with smooth muscle cell alpha-actin (102620) and vimentin (193060) (summary by Brouillard et al., 2002). The genetic distinctness of glomuvenous malformations from mucocutaneous venous malformations is indicated by the fact that mutations have been found in the TIE2/TEK gene (600221) in mucocutaneous venous malformations and not in glomuvenous malformations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374834">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336683"><div><strong>Granulomas, congenital cerebral</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336683</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1844406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336683">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336706"><div><strong>Membranoproliferative glomerulonephritis, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336706</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1844501</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Habib et al. (1973) recognized 2 morphologic classes for the glomerular changes seen in patients with mesangiocapillary (membranoproliferative) glomerulonephritis (MPGN). Type I is characterized by double contour appearance of the capillary walls due to mesangial cell interposition, with nonargyrophilic subendothelial deposits which are finely granular on electron microscopy. Type II is characterized by linear dense deposits within the basement membrane and only rare double contours. These 2 types appear to be distinct with no conversion of one type to another on serial biopsy. Strife et al. (1977) described a third variety in which there are not only subendothelial deposits but also numerous subepithelial and intramembranous deposits, associated with replication of the lamina densa and frequently disruption of the whole basement membrane.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336706">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337026"><div><strong>Fingerprint body myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337026</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1844560</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337026">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337123"><div><strong>Infantile-onset X-linked spinal muscular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337123</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1844934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked infantile spinal muscular atrophy (XL-SMA) is characterized by congenital hypotonia, areflexia, and evidence of degeneration and loss of anterior horn cells (i.e., lower motor neurons) in the spinal cord and brain stem. Often congenital contractures and/or fractures are present. Intellect is normal. Life span is significantly shortened because of progressive ventilatory insufficiency resulting from chest muscle involvement.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337123">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336376"><div><strong>Oculogastrointestinal muscular dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336376</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1848586</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An extremely rare autosomal recessively inherited neuromuscular disease characterised by ocular manifestations such as ptosis and diplopia followed by chronic diarrhoea, malnutrition and intestinal pseudo-obstruction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336376">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338528"><div><strong>T-substance anomaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338528</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1848724</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338528">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336425"><div><strong>Thymic-renal-anal-lung dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336425</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1848812</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This syndrome has characteristics of intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. It has been described in three girls born to a nonconsanguineous couple.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336425">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376457"><div><strong>Thanatophoric dysplasia, Glasgow variant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376457</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1848865</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376457">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338583"><div><strong>Sucrosuria, hiatus hernia and intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338583</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1848963</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338583">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376532"><div><strong>Sodium-potassium-ATPase activity of red cell</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376532</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849169</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Cell Function</dd></dl></div></div></div></div>
|
||
<div class="divPopper rprt" id="rdis_376605"><div><strong>Pygmy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376605</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849524</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376605">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376629"><div><strong>Pseudouridinuria and mental defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376629</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849648</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376629">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337889"><div><strong>Progesterone resistance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337889</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849699</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progesterone prepares the endometrium for blastocyst implantation and allows maintenance of pregnancy. The major sources of progesterone are the corpus luteum during the second half of the menstrual cycle and at the beginning of pregnancy, and the placenta. The main hormones responsible for stimulation of progesterone secretion are luteinizing hormone (LH) for the corpus luteum of the menstrual cycle and chorionic gonadotropin for the corpus luteum of pregnancy. Complete end-organ resistance to progesterone would be incompatible with reproductive competence in females. Males would not be expected to be affected since progesterone has no known function in men. Failure of the uterus to respond to progesterone would lead to the development of a 'constantly proliferative' endometrium incompatible with blastocyst implantation. Partial resistance to progesterone, on the other hand, would be expected to be associated with various degrees of incomplete maturation of the endometrium, perhaps expressed clinically as infertility or early abortions. The syndrome would present with the clinical and histologic picture of a luteal phase defect in which the life span of the corpus luteum and the plasma progesterone concentrations would be normal or elevated.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337889">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337912"><div><strong>Platelet prostacyclin receptor defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337912</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849774</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337912">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340412"><div><strong>Short stature due to growth hormone qualitative anomaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340412</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849779</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Kowarski syndrome, or short stature associated with bioinactive growth hormone, is characterized clinically by normal or slightly increased GH secretion, pathologically low IGF1 (147440) levels, and normal catch-up growth on GH replacement therapy (Besson et al., 2005).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340412">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340516"><div><strong>Oculorenocerebellar syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340516</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850331</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340516">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338036"><div><strong>Neutrophil actin dysfunction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338036</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850380</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neutrophil actin dysfunction (NAD) is an immunologic disorder characterized by early onset of recurrent infections, including oral, skin, and respiratory. Organisms are mainly bacterial and fungal. Patients tend to develop fever and hepatosplenomegaly with continued infection; bone marrow transplant is an effective treatment. The disorder results from impaired neutrophil mobility and chemotaxis associated with abnormal actin dynamics. Although a causative mutation has not been identified, studies have shown an association between the disorder and increased levels of a 47-kD F-actin-binding protein known as LSP1 (153432) and decreased levels of an unknown 89-kD protein (summary by Coates et al., 1991 and Howard et al., 1998).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338036">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340540"><div><strong>Neuronal ceroid lipofuscinosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340540</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850451</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). The patterns most often observed in CLN2 and CLN3 are 'curvilinear' and 'fingerprint' profiles, respectively. CLN4, CLN5, CLN6, CLN7, and CLN8 show mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). Zeman and Dyken (1969) referred to these conditions as the 'neuronal ceroid lipofuscinoses.' Goebel (1995) provided a comprehensive review of the NCLs and noted that they are possibly the most common group of neurodegenerative diseases in children. Mole et al. (2005) provided a detailed clinical and genetic review of the neuronal ceroid lipofuscinoses. Genetic Heterogeneity of Neuronal Ceroid Lipofuscinosis See also CLN2 (204500), caused by mutation in the TPP1 gene (607998) on chromosome 11p15; CLN3 (204200), caused by mutation in the CLN3 gene (607042) on 16p12; CLN4 (162350), caused by mutation in the DNAJC5 gene (611203) on 20q13; CLN5 (256731), caused by mutation in the CLN5 gene (608102) on 13q22; CLN6A (601780) and CLN6B (204300), both caused by mutation in the CLN6 gene (606725) on 15q21; CLN7 (610951), caused by mutation in the MFSD8 gene (611124) on 4q28; CLN8 (600143) and the Northern epilepsy variant of CLN8 (610003), both caused by mutation in the CLN8 gene (607837) on 8p23; CLN10 (610127), caused by mutation in the CTSD gene (116840) on 11p15; CLN11 (614706), caused by mutation in the GRN gene (138945) on 17q21; CLN13 (615362), caused by mutation in the CTSF gene (603539) on 11q13; and CLN14 (611726), caused by mutation in the KCTD7 gene (611725) on 7q11. CLN9 (609055) has not been molecularly characterized. A disorder that was formerly designated neuronal ceroid lipofuscinosis-12 (CLN12) is now considered to be a variable form of Kufor-Rakeb syndrome (KRS; 606693).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340540">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338114"><div><strong>Myopathy, granulovacuolar lobular, with electrical myotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338114</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338114">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338127"><div><strong>Myasthenia, congenital, refractory to acetylcholinesterase inhibitors</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338127</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338127">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343238"><div><strong>Chronic mucocutaneous candidiasis due to monocyte chemotactic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343238</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1854982</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343238">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_381541"><div><strong>Mitochondrial myopathy with a defect in mitochondrial-protein transport</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381541</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381541">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343289"><div><strong>Metaphyseal chondrodysplasia, Pena type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343289</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855195</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343289">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343360"><div><strong>Magnesium, elevated red cell</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343360</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855464</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343360">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340878"><div><strong>Chronic mucocutaneous candidiasis due to lymphokine deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340878</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855471</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340878">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340881"><div><strong>Chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340881</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855474</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340881">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344504"><div><strong>Chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344504</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855476</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344504">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343375"><div><strong>Lethal Larsen-like syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343375</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855535</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343375">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340942"><div><strong>Intrinsic factor and r binder, combined congenital deficiency of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340942</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855721</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340942">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344562"><div><strong>Inosine phosphorylase deficiency, immune defect due to</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344562</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855737</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344562">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_384017"><div><strong>Epilepsy-telangiectasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>384017</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1856929</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/384017">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_387794"><div><strong>Dermatoleukodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>387794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1857314</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This syndrome is characterized by the association of a progressive leukodystrophy marked by generalized mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/387794">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341803"><div><strong>Conotruncal heart malformations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341803</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1857586</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341803">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347504"><div><strong>Familial reactive perforating collagenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347504</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1857624</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reactive perforating collagenosis, characterized by extrusion of collagen fibers through the epidermis, usually begins in infancy or childhood and appears clinically as recurrent umbilicated papules that resolve spontaneously in 6 to 8 weeks (summary by Trattner et al., 1991).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347504">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349092"><div><strong>Citrulline transport defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349092</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349092">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_395174"><div><strong>Infantile choroidocerebral calcification syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395174</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859092</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This syndrome has characteristics of intellectual deficit, calcification of the choroid plexus and elevated levels of cerebrospinal fluid protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395174">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_395210"><div><strong>Cerebral sclerosis similar to Pelizaeus-Merzbacher disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395210</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859258</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395210">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_395225"><div><strong>Cephalin lipidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395225</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859307</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395225">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349138"><div><strong>Premature centromere division</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349138</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859308</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349138">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_395234"><div><strong>Cardiac lipidosis, familial</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395234</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859332</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395234">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349245"><div><strong>Anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349245</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349245">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347241"><div><strong>Amobarbital, deficient N-hydroxylation of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347241</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859816</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347241">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_395359"><div><strong>Alpha-2 deficient collagen disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395359</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859850</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395359">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349756"><div><strong>Zinc, elevated plasma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349756</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1860228</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349756">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348108"><div><strong>Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348108</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1860464</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348108">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348635"><div><strong>Vasculitis, lymphocytic, nodular</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348635</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1860519</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348635">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_396002"><div><strong>Tremor of intention, ataxia, and lipofuscinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396002</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1860872</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/396002">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350353"><div><strong>Dermatitis, atopic</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350353</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1864155</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350353">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355878"><div><strong>Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355878</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1864966</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355878">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355746"><div><strong>Neural tube defects, folate-sensitive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355746</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1866558</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neural tube defects have a birth incidence of approximately 1 in 1,000 in American Caucasians and are the second most common type of birth defect after congenital heart defects. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly (206500) (Detrait et al., 2005). Women with elevated plasma homocysteine, low folate, or low vitamin B12 (cobalamin) are at increased risk of having a child with a neural tube defect (O'Leary et al., 2005). Motulsky (1996) cited evidence from the Centers for Disease Control ( Anonymous, 1992) that folic acid given before and during the first 4 weeks of pregnancy can prevent 50% or more of neural tube defects. Botto et al. (1999) and Detrait et al. (2005) provided reviews of neural tube defects. De Marco et al. (2006) provided a detailed review of neurulation and the possible etiologies of neural tube defects.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355746">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355791"><div><strong>Spondyloarthropathy, susceptibility to, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355791</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1866738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355791">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_416701"><div><strong>Neuropathy, hereditary sensory and autonomic, type 2A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416701</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2752089</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. Osteomyelitis is common. Painless fractures can complicate the disease. Autonomic disturbances are variable and can include hyperhidrosis, tonic pupils, and urinary incontinence in those with more advanced disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/416701">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_444003"><div><strong>Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>444003</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931214</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/444003">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1645412"><div><strong>Encephalopathy due to GLUT1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645412</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551966</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Glucose transporter type 1 deficiency syndrome (Glut1DS) is a disorder of brain energy metabolism. Glucose, the essential metabolic fuel for the brain, is transported into the brain exclusively by the protein glucose transporter type 1 (Glut1) across the endothelial cells forming the blood-brain barrier (BBB). Glut1DS results from the inability of Glut1 to transfer sufficient glucose across the BBB to meet the glucose demands of the brain. The needs of the brain for glucose increase rapidly after birth, peaking in early childhood, remaining high until about age 10 years, then gradually decreasing throughout adolescence and plateauing in early adulthood. When first diagnosed in infancy to early childhood, the predominant clinical findings of Glut1DS are paroxysmal eye-head movements, pharmacoresistant seizures of varying types, deceleration of head growth, and developmental delay. Subsequently children develop complex movement disorders and intellectual disability ranging from mild to severe. Institution of ketogenic diet therapies (KDTs) helps with early neurologic growth and development and seizure control. Typically, the earlier the treatment the better the long-term clinical outcome. When first diagnosed in later childhood to adulthood (occasionally in a parent following the diagnosis of an affected child), the predominant clinical findings of Glut1DS are usually complex paroxysmal movement disorders, spasticity, ataxia, dystonia, speech difficulty, and intellectual disability.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1645412">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648341"><div><strong>Epidermodysplasia verruciformis, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648341</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4722564</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">'Typical' or 'classic' epidermodysplasia verruciformis (EV) is a rare genodermatosis characterized by increased susceptibility to infection with specific human papillomavirus (HPV) genotypes, usually beta-HPV strains, and to the oncogenic potential of some of them, mainly HPV5 and HPV8. Affected individuals develop disseminated flat wart-like and pityriasis versicolor-like cutaneous lesions in childhood or adolescence. The lesions are highly resistant to treatment. About half of patients with EV develop skin cancer, including cutaneous Bowen carcinomas in situ and invasive squamous cell carcinomas, mainly on sun-exposed areas. Individuals with typical or classic EV have no additional immunologic abnormalities (Ramoz et al., 2000; review by Beziat, 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648341">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75667" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395359" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alpha-2 deficient collagen disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347241" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amobarbital, deficient N-hydroxylation of</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349245" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78649" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aspartylglucosaminuria</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (87)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1918" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune hemolytic anemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_91162" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carbohydrate-deficient glycoprotein syndrome type III</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac lipidosis, familial</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac valvular dysplasia, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cephalin lipidosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395210" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral sclerosis similar to Pelizaeus-Merzbacher disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344504" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340878" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic mucocutaneous candidiasis due to lymphokine deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343238" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic mucocutaneous candidiasis due to monocyte chemotactic disorder</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349092" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Citrulline transport defect</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341803" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Conotruncal heart malformations</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350353" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dermatitis, atopic</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_387794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dermatoleukodystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_65962" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Desquamative interstitial pneumonia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_323088" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Disorder due cytochrome p450 CYP2D6 variant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82778" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysmorphic sialidosis with renal involvement</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355878" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645412" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Encephalopathy due to GLUT1 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648341" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epidermodysplasia verruciformis, susceptibility to, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_384017" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epilepsy-telangiectasia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120637" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ethanolaminosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347504" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial reactive perforating collagenosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83336" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal iodine deficiency disorder</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337026" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fingerprint body myopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374834" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glomuvenous malformation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_104912" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gonadoblastoma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336683" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Granulomas, congenital cerebral</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75686" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hooft disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82821" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperleucine-isoleucinemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395174" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile choroidocerebral calcification syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337123" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile-onset X-linked spinal muscular atrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344562" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inosine phosphorylase deficiency, immune defect due to</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340942" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intrinsic factor and r binder, combined congenital deficiency of</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_124446" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kerion celsi</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343375" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal Larsen-like syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333150" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrocytosis, familial</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_351514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macular corneal dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Magnesium, elevated red cell</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336706" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Membranoproliferative glomerulonephritis, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343289" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal chondrodysplasia, Pena type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78538" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Miller Dieker syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial myopathy with a defect in mitochondrial-protein transport</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338127" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myasthenia, congenital, refractory to acetylcholinesterase inhibitors</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96015" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myeloperoxidase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338114" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, granulovacuolar lobular, with electrical myotonia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355746" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neural tube defects, folate-sensitive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340540" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal ceroid lipofuscinosis 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318658" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal intestinal dysplasia, type B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_416701" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuropathy, hereditary sensory and autonomic, type 2A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338036" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neutrophil actin dysfunction</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336376" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculogastrointestinal muscular dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340516" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculorenocerebellar syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337912" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Platelet prostacyclin receptor defect</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_10836" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polycystic ovaries</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348108" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349138" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature centromere division</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337889" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progesterone resistance</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333322" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Properdin deficiency, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376629" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pseudouridinuria and mental defect</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376605" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pygmy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83299" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rutland ciliary disorientation syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_203368" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Salla disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_20684" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scurvy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340412" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature due to growth hormone qualitative anomaly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_282890" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sjogren syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_164207" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Slow acetylator due to N-acetyltransferase enzyme variant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sodium-potassium-ATPase activity of red cell</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318191" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinal arachnoiditis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355791" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloarthropathy, susceptibility to, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338583" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sucrosuria, hiatus hernia and intellectual disability</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338528" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">T-substance anomaly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120626" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Testosterone 17-beta-dehydrogenase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_444003" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376457" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thanatophoric dysplasia, Glasgow variant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83352" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thiopurine S-methyltransferase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336425" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thymic-renal-anal-lung dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_87430" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thyroglobulin synthesis defect</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90993" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Transcobalamin I deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_396002" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tremor of intention, ataxia, and lipofuscinosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vasculitis, lymphocytic, nodular</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349756" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Zinc, elevated plasma</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30968598">Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hong S,
|
||
Wang L,
|
||
Zhao D,
|
||
Zhang Y,
|
||
Chen Y,
|
||
Tan J,
|
||
Liang L,
|
||
Zhu T</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2019 Jun;7(6):e684.
|
||
Epub 2019 Apr 9
|
||
doi: 10.1002/mgg3.684.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30968598" target="_blank">30968598</a><a href="/pmc/articles/PMC6565546" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22abnormality%20of%20metabolism%2Fhomeostasis%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39777714">The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">den Hollander B,
|
||
Hoytema van Konijnenburg EMM,
|
||
Hewitson B,
|
||
van der Meijden JC,
|
||
Balfoort BM,
|
||
Winter B,
|
||
Müller AR,
|
||
Wasserman WW,
|
||
Ferreira CR,
|
||
van Karnebeek CD</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2025 Jan;48(1):e12835.
|
||
doi: 10.1002/jimd.12835.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39777714" target="_blank">39777714</a><a href="/pmc/articles/PMC11707409" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38367813">The role and mechanism of RNA-binding proteins in bone metabolism and osteoporosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu J,
|
||
Niu L,
|
||
Yang K,
|
||
Xu J,
|
||
Zhang D,
|
||
Ling J,
|
||
Xia P,
|
||
Wu Y,
|
||
Liu X,
|
||
Liu J,
|
||
Zhang J,
|
||
Yu P</span><br />
|
||
<span class="medgenPMjournal">Ageing Res Rev</span>
|
||
2024 Apr;96:102234.
|
||
Epub 2024 Feb 16
|
||
doi: 10.1016/j.arr.2024.102234.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38367813" target="_blank">38367813</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36863088">PPM1K-regulated impaired catabolism of branched-chain amino acids orchestrates polycystic ovary syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mu L,
|
||
Ye Z,
|
||
Hu J,
|
||
Zhang Y,
|
||
Chen K,
|
||
Sun H,
|
||
Li R,
|
||
Mao W,
|
||
Long X,
|
||
Zhang C,
|
||
Lai Y,
|
||
Liu J,
|
||
Zhao Y,
|
||
Qiao J</span><br />
|
||
<span class="medgenPMjournal">EBioMedicine</span>
|
||
2023 Mar;89:104492.
|
||
Epub 2023 Feb 28
|
||
doi: 10.1016/j.ebiom.2023.104492.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36863088" target="_blank">36863088</a><a href="/pmc/articles/PMC9986518" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34118361">A synthetic peptide AWRK6 ameliorates metabolic associated fatty liver disease: involvement of lipid and glucose homeostasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jin L,
|
||
Sun Y,
|
||
Li Y,
|
||
Zhang H,
|
||
Yu W,
|
||
Li Y,
|
||
Xin Y,
|
||
Alsareii SA,
|
||
Wang Q,
|
||
Zhang D</span><br />
|
||
<span class="medgenPMjournal">Peptides</span>
|
||
2021 Sep;143:170597.
|
||
Epub 2021 Jun 10
|
||
doi: 10.1016/j.peptides.2021.170597.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34118361" target="_blank">34118361</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30597304">Obesity: Pathophysiology, monosodium glutamate-induced model and anti-obesity medicinal plants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hernández Bautista RJ,
|
||
Mahmoud AM,
|
||
Königsberg M,
|
||
López Díaz Guerrero NE</span><br />
|
||
<span class="medgenPMjournal">Biomed Pharmacother</span>
|
||
2019 Mar;111:503-516.
|
||
Epub 2018 Dec 28
|
||
doi: 10.1016/j.biopha.2018.12.108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30597304" target="_blank">30597304</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20metabolism%2Fhomeostasis%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (9)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39777714">The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">den Hollander B,
|
||
Hoytema van Konijnenburg EMM,
|
||
Hewitson B,
|
||
van der Meijden JC,
|
||
Balfoort BM,
|
||
Winter B,
|
||
Müller AR,
|
||
Wasserman WW,
|
||
Ferreira CR,
|
||
van Karnebeek CD</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2025 Jan;48(1):e12835.
|
||
doi: 10.1002/jimd.12835.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39777714" target="_blank">39777714</a><a href="/pmc/articles/PMC11707409" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34118361">A synthetic peptide AWRK6 ameliorates metabolic associated fatty liver disease: involvement of lipid and glucose homeostasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jin L,
|
||
Sun Y,
|
||
Li Y,
|
||
Zhang H,
|
||
Yu W,
|
||
Li Y,
|
||
Xin Y,
|
||
Alsareii SA,
|
||
Wang Q,
|
||
Zhang D</span><br />
|
||
<span class="medgenPMjournal">Peptides</span>
|
||
2021 Sep;143:170597.
|
||
Epub 2021 Jun 10
|
||
doi: 10.1016/j.peptides.2021.170597.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34118361" target="_blank">34118361</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31134465">Dysmetabolic markers predict outcomes in autosomal dominant polycystic kidney disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kocyigit I,
|
||
Ozturk F,
|
||
Eroglu E,
|
||
Karaca Z,
|
||
Kaynar AS,
|
||
Cetin M,
|
||
Tokgoz B,
|
||
Sipahioglu MH,
|
||
Bayramov R,
|
||
Sen A,
|
||
Oymak O,
|
||
Ecder T,
|
||
Axelsson J</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Nephrol</span>
|
||
2019 Sep;23(9):1130-1140.
|
||
Epub 2019 May 27
|
||
doi: 10.1007/s10157-019-01748-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31134465" target="_blank">31134465</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30597304">Obesity: Pathophysiology, monosodium glutamate-induced model and anti-obesity medicinal plants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hernández Bautista RJ,
|
||
Mahmoud AM,
|
||
Königsberg M,
|
||
López Díaz Guerrero NE</span><br />
|
||
<span class="medgenPMjournal">Biomed Pharmacother</span>
|
||
2019 Mar;111:503-516.
|
||
Epub 2018 Dec 28
|
||
doi: 10.1016/j.biopha.2018.12.108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30597304" target="_blank">30597304</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29884798">Integrated analysis of long noncoding RNA and mRNA expression profile in children with obesity by microarray analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu Y,
|
||
Ji Y,
|
||
Li M,
|
||
Wang M,
|
||
Yi X,
|
||
Yin C,
|
||
Wang S,
|
||
Zhang M,
|
||
Zhao Z,
|
||
Xiao Y</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2018 Jun 8;8(1):8750.
|
||
doi: 10.1038/s41598-018-27113-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29884798" target="_blank">29884798</a><a href="/pmc/articles/PMC5993825" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20metabolism%2Fhomeostasis%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (8)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36863088">PPM1K-regulated impaired catabolism of branched-chain amino acids orchestrates polycystic ovary syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mu L,
|
||
Ye Z,
|
||
Hu J,
|
||
Zhang Y,
|
||
Chen K,
|
||
Sun H,
|
||
Li R,
|
||
Mao W,
|
||
Long X,
|
||
Zhang C,
|
||
Lai Y,
|
||
Liu J,
|
||
Zhao Y,
|
||
Qiao J</span><br />
|
||
<span class="medgenPMjournal">EBioMedicine</span>
|
||
2023 Mar;89:104492.
|
||
Epub 2023 Feb 28
|
||
doi: 10.1016/j.ebiom.2023.104492.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36863088" target="_blank">36863088</a><a href="/pmc/articles/PMC9986518" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34118361">A synthetic peptide AWRK6 ameliorates metabolic associated fatty liver disease: involvement of lipid and glucose homeostasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jin L,
|
||
Sun Y,
|
||
Li Y,
|
||
Zhang H,
|
||
Yu W,
|
||
Li Y,
|
||
Xin Y,
|
||
Alsareii SA,
|
||
Wang Q,
|
||
Zhang D</span><br />
|
||
<span class="medgenPMjournal">Peptides</span>
|
||
2021 Sep;143:170597.
|
||
Epub 2021 Jun 10
|
||
doi: 10.1016/j.peptides.2021.170597.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34118361" target="_blank">34118361</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30597304">Obesity: Pathophysiology, monosodium glutamate-induced model and anti-obesity medicinal plants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hernández Bautista RJ,
|
||
Mahmoud AM,
|
||
Königsberg M,
|
||
López Díaz Guerrero NE</span><br />
|
||
<span class="medgenPMjournal">Biomed Pharmacother</span>
|
||
2019 Mar;111:503-516.
|
||
Epub 2018 Dec 28
|
||
doi: 10.1016/j.biopha.2018.12.108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30597304" target="_blank">30597304</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30150788">Fluoxetine induces lipid metabolism abnormalities by acting on the liver in patients and mice with depression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pan SJ,
|
||
Tan YL,
|
||
Yao SW,
|
||
Xin Y,
|
||
Yang X,
|
||
Liu J,
|
||
Xiong J</span><br />
|
||
<span class="medgenPMjournal">Acta Pharmacol Sin</span>
|
||
2018 Sep;39(9):1463-1472.
|
||
Epub 2018 May 10
|
||
doi: 10.1038/aps.2017.207.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30150788" target="_blank">30150788</a><a href="/pmc/articles/PMC6289401" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17066209">Effects of nutrients (in food) on the structure and function of the nervous system: update on dietary requirements for brain. Part 1: micronutrients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bourre JM</span><br />
|
||
<span class="medgenPMjournal">J Nutr Health Aging</span>
|
||
2006 Sep-Oct;10(5):377-85.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17066209" target="_blank">17066209</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20metabolism%2Fhomeostasis%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39587636">Novel biallelic variants in IREB2 cause an early-onset neurodegenerative disorder in a Chinese pedigree.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guo Z,
|
||
Huo D,
|
||
Shao Y,
|
||
Yang W,
|
||
Wang J,
|
||
Zhang Y,
|
||
Xiao H,
|
||
Hao B,
|
||
Liao S</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Nov 25;19(1):435.
|
||
doi: 10.1186/s13023-024-03465-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39587636" target="_blank">39587636</a><a href="/pmc/articles/PMC11587613" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31134465">Dysmetabolic markers predict outcomes in autosomal dominant polycystic kidney disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kocyigit I,
|
||
Ozturk F,
|
||
Eroglu E,
|
||
Karaca Z,
|
||
Kaynar AS,
|
||
Cetin M,
|
||
Tokgoz B,
|
||
Sipahioglu MH,
|
||
Bayramov R,
|
||
Sen A,
|
||
Oymak O,
|
||
Ecder T,
|
||
Axelsson J</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Nephrol</span>
|
||
2019 Sep;23(9):1130-1140.
|
||
Epub 2019 May 27
|
||
doi: 10.1007/s10157-019-01748-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31134465" target="_blank">31134465</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20044741">Early left ventricular mechanics abnormalities in prehypertension: a two-dimensional strain echocardiography study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Bello V,
|
||
Talini E,
|
||
Dell'Omo G,
|
||
Giannini C,
|
||
Delle Donne MG,
|
||
Canale ML,
|
||
Nardi C,
|
||
Palagi C,
|
||
Dini FL,
|
||
Penno G,
|
||
Del Prato S,
|
||
Marzilli M,
|
||
Pedrinelli R</span><br />
|
||
<span class="medgenPMjournal">Am J Hypertens</span>
|
||
2010 Apr;23(4):405-12.
|
||
Epub 2009 Dec 31
|
||
doi: 10.1038/ajh.2009.258.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20044741" target="_blank">20044741</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20metabolism%2Fhomeostasis%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39777714">The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">den Hollander B,
|
||
Hoytema van Konijnenburg EMM,
|
||
Hewitson B,
|
||
van der Meijden JC,
|
||
Balfoort BM,
|
||
Winter B,
|
||
Müller AR,
|
||
Wasserman WW,
|
||
Ferreira CR,
|
||
van Karnebeek CD</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2025 Jan;48(1):e12835.
|
||
doi: 10.1002/jimd.12835.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39777714" target="_blank">39777714</a><a href="/pmc/articles/PMC11707409" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31134465">Dysmetabolic markers predict outcomes in autosomal dominant polycystic kidney disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kocyigit I,
|
||
Ozturk F,
|
||
Eroglu E,
|
||
Karaca Z,
|
||
Kaynar AS,
|
||
Cetin M,
|
||
Tokgoz B,
|
||
Sipahioglu MH,
|
||
Bayramov R,
|
||
Sen A,
|
||
Oymak O,
|
||
Ecder T,
|
||
Axelsson J</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Nephrol</span>
|
||
2019 Sep;23(9):1130-1140.
|
||
Epub 2019 May 27
|
||
doi: 10.1007/s10157-019-01748-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31134465" target="_blank">31134465</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30968598">Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hong S,
|
||
Wang L,
|
||
Zhao D,
|
||
Zhang Y,
|
||
Chen Y,
|
||
Tan J,
|
||
Liang L,
|
||
Zhu T</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2019 Jun;7(6):e684.
|
||
Epub 2019 Apr 9
|
||
doi: 10.1002/mgg3.684.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30968598" target="_blank">30968598</a><a href="/pmc/articles/PMC6565546" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30931985">Effects of hyperthyroidism in the development of the appendicular skeleton and muscles of zebrafish, with notes on evolutionary developmental pathology (Evo-Devo-Path).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shkil F,
|
||
Siomava N,
|
||
Voronezhskaya E,
|
||
Diogo R</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2019 Apr 1;9(1):5413.
|
||
doi: 10.1038/s41598-019-41912-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30931985" target="_blank">30931985</a><a href="/pmc/articles/PMC6443675" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30597304">Obesity: Pathophysiology, monosodium glutamate-induced model and anti-obesity medicinal plants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hernández Bautista RJ,
|
||
Mahmoud AM,
|
||
Königsberg M,
|
||
López Díaz Guerrero NE</span><br />
|
||
<span class="medgenPMjournal">Biomed Pharmacother</span>
|
||
2019 Mar;111:503-516.
|
||
Epub 2018 Dec 28
|
||
doi: 10.1016/j.biopha.2018.12.108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30597304" target="_blank">30597304</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20metabolism%2Fhomeostasis%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (8)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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|
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|
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<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4021768%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (36)</a></li>
|
||
<li><a href="/gtr/tests?term=C4021768%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C4021768%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (36)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4021768%5bDISCUI%5d" target="_blank">See all (40)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Abnormality%20of%20metabolism/homeostasis" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22abnormality%20of%20metabolism%2Fhomeostasis%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Abnormality%20of%20metabolism/homeostasis" target="_blank">MedlinePlus</a></li></ul></div>
|
||
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|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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</div>
|
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<div class="portlet_content">
|
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<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Abnormality%20of%20metabolism/homeostasis" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Abnormality%20of%20metabolism/homeostasis%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
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|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
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|
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<h3>Related information</h3>
|
||
</div>
|
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||
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||
<div class="portlet_content DiscoveryDbLinks">
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<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=867398" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4021768[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4021768[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=867398" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=867398" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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||
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|
||
|
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|
||
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<h3>Recent activity</h3>
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<div id="HTDisplay" class="">
|
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<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
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<div class="action">
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
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Clear
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|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn Off
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|
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Turn On
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||
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|
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</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ce8a9d84f3725e59f057be">Abnormality of metabolism/homeostasis</a>
|
||
<div class="ralinkpop offscreen_noflow">Abnormality of metabolism/homeostasis<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67ce8a9cb15b832ebcc731bc">C4021768[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67ce8a9a84f3725e59f04441">C4024756[trait identifier] AND "Centre for Mendelian Genomics, Un... <span class="number">(1)</span></a>
|
||
<div class="ralinkpop offscreen_noflow">C4024756[trait identifier] AND "Centre for Mendelian Genomics, University Medical Centre Ljubljana"[submitter]<div class="brieflinkpopdesc">Search</div></div>
|
||
<div class="tertiary">ClinVar</div>
|
||
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