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<!--
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||
UID=44376
|
||
ConceptID=C0025517
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Metabolic disease</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44376</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.">C0025517</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>metabolic disorder</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>MD - Metabolic disorders (75934005); Metabolic disease (75934005); Metabolic disorder (75934005); Generalized metabolic disorder (30390004)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0005066" target="_blank">MONDO:0005066</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0025517[DISCUI]&test_type=Clinical" ref="ncbi_uid=44376">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=44376" ref="ncbi_uid=44376">V</a></span></span><span class="TLline">Metabolic disease</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/311052" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder">Non-Neoplastic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/317955" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder by Special Category">Non-Neoplastic Disorder by Special Category</a></span><ul><li><span class="matched_ds">Metabolic disease</span><ul><li><span class="TLline"><a href="/medgen/82824" ref="tree=MeSH" title="MedGen record for 5,10-Methylenetetrahydrofolate reductase deficiency">5,10-Methylenetetrahydrofolate reductase deficiency</a></span></li><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><ul><li><span class="TLline"><a href="/medgen/869225" ref="tree=MeSH" title="MedGen record for Abnormal blood inorganic cation concentration">Abnormal blood inorganic cation concentration</a></span></li><li><span class="TLline"><a href="/medgen/869222" ref="tree=MeSH" title="MedGen record for Abnormal blood monovalent inorganic cation concentration">Abnormal blood monovalent inorganic cation concentration</a></span></li><li><span class="TLline"><a href="/medgen/869164" ref="tree=MeSH" title="MedGen record for Abnormal blood transition element cation concentration">Abnormal blood transition element cation concentration</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/39325" ref="tree=MeSH" title="MedGen record for Hyperchloremia">Hyperchloremia</a></span></li><li><span class="TLline"><a href="/medgen/39088" ref="tree=MeSH" title="MedGen record for Hypochloremia">Hypochloremia</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/868752" ref="tree=MeSH" title="MedGen record for Elevated plasma pyrophosphate">Elevated plasma pyrophosphate</a></span></li><li><span class="TLline"><a href="/medgen/39326" ref="tree=MeSH" title="MedGen record for Hyperphosphatemia">Hyperphosphatemia</a></span></li><li><span class="TLline"><a href="/medgen/39327" ref="tree=MeSH" title="MedGen record for Hypophosphatemia">Hypophosphatemia</a></span></li></ul></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/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><ul><li><span class="TLline"><a href="/medgen/1670952" ref="tree=MeSH" title="MedGen record for Decreased serum anion gap">Decreased serum anion gap</a></span></li><li><span class="TLline"><a href="/medgen/1671031" ref="tree=MeSH" title="MedGen record for Elevated serum anion gap">Elevated serum anion gap</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/1670967" ref="tree=MeSH" title="MedGen record for Decreased serum bicarbonate concentration">Decreased serum bicarbonate concentration</a></span></li><li><span class="TLline"><a href="/medgen/1671049" ref="tree=MeSH" title="MedGen record for Elevated serum bicarbonate concentration">Elevated serum bicarbonate concentration</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/868025" ref="tree=MeSH" title="MedGen record for Dicarboxylic acidemia">Dicarboxylic acidemia</a></span></li><li><span class="TLline"><a href="/medgen/871132" ref="tree=MeSH" title="MedGen record for Elevated circulating glutaric acid concentration">Elevated circulating glutaric acid concentration</a></span></li><li><span class="TLline"><a href="/medgen/120654" ref="tree=MeSH" title="MedGen record for Methylmalonic acidemia">Methylmalonic acidemia</a></span></li><li><span class="TLline"><a href="/medgen/376669" ref="tree=MeSH" title="MedGen record for Phenylpyruvic acidemia">Phenylpyruvic acidemia</a></span></li><li><span class="TLline"><a href="/medgen/75694" ref="tree=MeSH" title="MedGen record for Propionic acidemia">Propionic acidemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1296" ref="tree=MeSH" title="MedGen record for Acidosis">Acidosis</a></span><ul><li><span class="TLline"><a href="/medgen/760150" ref="tree=MeSH" title="MedGen record for Chronic acidosis">Chronic acidosis</a></span></li><li><span class="TLline"><a href="/medgen/43207" ref="tree=MeSH" title="MedGen record for Hyperchloremic acidosis">Hyperchloremic acidosis</a></span></li><li><span class="TLline"><a href="/medgen/332209" ref="tree=MeSH" title="MedGen record for Increased circulating lactate concentration">Increased circulating lactate concentration</a></span></li><li><span class="TLline"><a href="/medgen/7206" ref="tree=MeSH" title="MedGen record for Ketosis">Ketosis</a></span></li><li><span class="TLline"><a href="/medgen/1717" ref="tree=MeSH" title="MedGen record for Lactic acidosis">Lactic acidosis</a></span></li><li><span class="TLline"><a href="/medgen/65117" ref="tree=MeSH" title="MedGen record for Metabolic acidosis">Metabolic acidosis</a></span></li><li><span class="TLline"><a href="/medgen/90" ref="tree=MeSH" title="MedGen record for Renal tubular acidosis">Renal tubular acidosis</a></span></li><li><span class="TLline"><a href="/medgen/91" ref="tree=MeSH" title="MedGen record for Respiratory acidosis">Respiratory acidosis</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/152850" ref="tree=MeSH" title="MedGen record for Hypochloremic metabolic alkalosis">Hypochloremic metabolic alkalosis</a></span></li><li><span class="TLline"><a href="/medgen/43208" ref="tree=MeSH" title="MedGen record for Hypokalemic alkalosis">Hypokalemic alkalosis</a></span></li><li><span class="TLline"><a href="/medgen/113134" ref="tree=MeSH" title="MedGen record for Metabolic alkalosis">Metabolic alkalosis</a></span></li><li><span class="TLline"><a href="/medgen/1411" ref="tree=MeSH" title="MedGen record for Respiratory alkalosis">Respiratory alkalosis</a></span></li></ul></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/5492" ref="tree=MeSH" title="MedGen record for Bronze diabetes">Bronze diabetes</a></span><ul><li><span class="TLline"><a href="/medgen/140272" ref="tree=MeSH" title="MedGen record for Hereditary hemochromatosis">Hereditary hemochromatosis</a></span><ul><li><span class="TLline"><a href="/medgen/854011" ref="tree=MeSH" title="MedGen record for Hemochromatosis type 1">Hemochromatosis type 1</a></span></li><li><span class="TLline"><a href="/medgen/388114" ref="tree=MeSH" title="MedGen record for Hemochromatosis type 3">Hemochromatosis type 3</a></span></li><li><span class="TLline"><a href="/medgen/340044" ref="tree=MeSH" title="MedGen record for Hemochromatosis type 4">Hemochromatosis type 4</a></span></li><li><span class="TLline"><a href="/medgen/341982" ref="tree=MeSH" title="MedGen record for Hemochromatosis type 5">Hemochromatosis type 5</a></span></li><li><span class="TLline"><a href="/medgen/417706" ref="tree=MeSH" title="MedGen record for HFE-Associated Hereditary Hemochromatosis">HFE-Associated Hereditary Hemochromatosis</a></span></li><li><span class="TLline"><a href="/medgen/82769" ref="tree=MeSH" title="MedGen record for Juvenile hemochromatosis">Juvenile hemochromatosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82768" ref="tree=MeSH" title="MedGen record for Neonatal hemochromatosis">Neonatal hemochromatosis</a></span></li><li><span class="TLline"><a href="/medgen/536772" ref="tree=MeSH" title="MedGen record for Secondary hemochromatosis">Secondary hemochromatosis</a></span><ul><li><span class="TLline"><a href="/medgen/541170" ref="tree=MeSH" title="MedGen record for Transfusion hemosiderosis">Transfusion hemosiderosis</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/472889" ref="tree=MeSH" title="MedGen record for Carbohydrate metabolism disease">Carbohydrate metabolism disease</a></span><ul><li><span class="TLline"><a href="/medgen/541226" ref="tree=MeSH" title="MedGen record for Carbohydrate transport disease">Carbohydrate transport disease</a></span></li><li><span class="TLline"><a href="/medgen/76469" ref="tree=MeSH" title="MedGen record for Congenital disorder of glycosylation">Congenital disorder of glycosylation</a></span><ul><li><span class="TLline"><a href="/medgen/419308" ref="tree=MeSH" title="MedGen record for ALG1-congenital disorder of glycosylation">ALG1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/462263" ref="tree=MeSH" title="MedGen record for ALG11-congenital disorder of glycosylation">ALG11-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/443954" ref="tree=MeSH" title="MedGen record for ALG12-congenital disorder of glycosylation">ALG12-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/334618" ref="tree=MeSH" title="MedGen record for ALG2-congenital disorder of glycosylation">ALG2-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/322026" ref="tree=MeSH" title="MedGen record for ALG3-congenital disorder of glycosylation">ALG3-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/443952" ref="tree=MeSH" title="MedGen record for ALG6-congenital disorder of glycosylation 1C">ALG6-congenital disorder of glycosylation 1C</a></span></li><li><span class="TLline"><a href="/medgen/419692" ref="tree=MeSH" title="MedGen record for ALG8 congenital disorder of glycosylation">ALG8 congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/443955" ref="tree=MeSH" title="MedGen record for ALG9 congenital disorder of glycosylation">ALG9 congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/419310" ref="tree=MeSH" title="MedGen record for B4GALT1-congenital disorder of glycosylation">B4GALT1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/443957" ref="tree=MeSH" title="MedGen record for COG1 congenital disorder of glycosylation">COG1 congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/929221" ref="tree=MeSH" title="MedGen record for COG4-congenital disorder of glycosylation">COG4-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/462226" ref="tree=MeSH" title="MedGen record for COG5-congenital disorder of glycosylation">COG5-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/766144" ref="tree=MeSH" title="MedGen record for COG6-congenital disorder of glycosylation">COG6-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/419311" ref="tree=MeSH" title="MedGen record for COG7 congenital disorder of glycosylation">COG7 congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/409971" ref="tree=MeSH" title="MedGen record for COG8-congenital disorder of glycosylation">COG8-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/815321" ref="tree=MeSH" title="MedGen record for Congenital disorder of deglycosylation">Congenital disorder of deglycosylation</a></span></li><li><span class="TLline"><a href="/medgen/324784" ref="tree=MeSH" title="MedGen record for Congenital disorder of glycosylation type 1E">Congenital disorder of glycosylation type 1E</a></span></li><li><span class="TLline"><a href="/medgen/1682844" ref="tree=MeSH" title="MedGen record for Congenital muscular dystrophy with intellectual disability and severe epilepsy">Congenital muscular dystrophy with intellectual disability and severe epilepsy</a></span></li><li><span class="TLline"><a href="/medgen/1382656" ref="tree=MeSH" title="MedGen record for Developmental and epileptic encephalopathy, 36">Developmental and epileptic encephalopathy, 36</a></span></li><li><span class="TLline"><a href="/medgen/332072" ref="tree=MeSH" title="MedGen record for DK1-congenital disorder of glycosylation">DK1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/419694" ref="tree=MeSH" title="MedGen record for DPAGT1-congenital disorder of glycosylation">DPAGT1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/414534" ref="tree=MeSH" title="MedGen record for DPM3-congenital disorder of glycosylation">DPM3-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/96022" ref="tree=MeSH" title="MedGen record for Leukocyte adhesion deficiency type II">Leukocyte adhesion deficiency type II</a></span></li><li><span class="TLline"><a href="/medgen/443956" ref="tree=MeSH" title="MedGen record for MGAT2-congenital disorder of glycosylation">MGAT2-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/342954" ref="tree=MeSH" title="MedGen record for MOGS-congenital disorder of glycosylation">MOGS-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/322968" ref="tree=MeSH" title="MedGen record for MPDU1-congenital disorder of glycosylation">MPDU1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/400692" ref="tree=MeSH" title="MedGen record for MPI-congenital disorder of glycosylation">MPI-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/414536" ref="tree=MeSH" title="MedGen record for PGM1-congenital disorder of glycosylation">PGM1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/138111" ref="tree=MeSH" title="MedGen record for PMM2-congenital disorder of glycosylation">PMM2-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/383145" ref="tree=MeSH" title="MedGen record for RFT1-congenital disorder of glycosylation">RFT1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/370234" ref="tree=MeSH" title="MedGen record for SLC35A1-congenital disorder of glycosylation">SLC35A1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/1392124" ref="tree=MeSH" title="MedGen record for SRD5A3-congenital disorder of glycosylation">SRD5A3-congenital disorder of glycosylation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8943" ref="tree=MeSH" title="MedGen record for Galactosemia">Galactosemia</a></span><ul><li><span class="TLline"><a href="/medgen/120614" ref="tree=MeSH" title="MedGen record for Deficiency of galactokinase">Deficiency of galactokinase</a></span></li><li><span class="TLline"><a href="/medgen/82777" ref="tree=MeSH" title="MedGen record for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase">Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase</a></span></li><li><span class="TLline"><a href="/medgen/1718159" ref="tree=MeSH" title="MedGen record for Galactosemia 4">Galactosemia 4</a></span></li><li><span class="TLline"><a href="/medgen/443018" ref="tree=MeSH" title="MedGen record for Transferase Deficiency Galactosemia">Transferase Deficiency Galactosemia</a></span></li><li><span class="TLline"><a href="/medgen/199598" ref="tree=MeSH" title="MedGen record for UDPglucose-4-epimerase deficiency">UDPglucose-4-epimerase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/226229" ref="tree=MeSH" title="MedGen record for Glucose metabolism disease">Glucose metabolism disease</a></span><ul><li><span class="TLline"><a href="/medgen/8350" ref="tree=MeSH" title="MedGen record for Diabetes mellitus">Diabetes mellitus</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/42267" ref="tree=MeSH" title="MedGen record for Glycosuria">Glycosuria</a></span></li><li><span class="TLline"><a href="/medgen/5689" ref="tree=MeSH" title="MedGen record for Hyperglycemia">Hyperglycemia</a></span></li><li><span class="TLline"><a href="/medgen/43779" ref="tree=MeSH" title="MedGen record for Hyperinsulinemia">Hyperinsulinemia</a></span></li><li><span class="TLline"><a href="/medgen/6979" ref="tree=MeSH" title="MedGen record for Hypoglycemia">Hypoglycemia</a></span></li><li><span class="TLline"><a href="/medgen/83928" ref="tree=MeSH" title="MedGen record for Prediabetes syndrome">Prediabetes syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/575210" ref="tree=MeSH" title="MedGen record for Glycerol metabolism disease">Glycerol metabolism disease</a></span></li><li><span class="TLline"><a href="/medgen/2825" ref="tree=MeSH" title="MedGen record for Inborn carbohydrate metabolic disorder">Inborn carbohydrate metabolic disorder</a></span><ul><li><span class="TLline"><a href="/medgen/8922" ref="tree=MeSH" title="MedGen record for Fructose Metabolism, Inborn Errors">Fructose Metabolism, Inborn Errors</a></span></li><li><span class="TLline"><a href="/medgen/5288" ref="tree=MeSH" title="MedGen record for Fucosidosis">Fucosidosis</a></span></li><li><span class="TLline"><a href="/medgen/473706" ref="tree=MeSH" title="MedGen record for G6PD deficiency">G6PD deficiency</a></span></li><li><span class="TLline"><a href="/medgen/6639" ref="tree=MeSH" title="MedGen record for Glycogen storage disease">Glycogen storage disease</a></span></li><li><span class="TLline"><a href="/medgen/19612" ref="tree=MeSH" title="MedGen record for Inborn error of pyruvate metabolism">Inborn error of pyruvate metabolism</a></span></li><li><span class="TLline"><a href="/medgen/6001" ref="tree=MeSH" title="MedGen record for Lactose intolerance">Lactose intolerance</a></span></li><li><span class="TLline"><a href="/medgen/226231" ref="tree=MeSH" title="MedGen record for Mannosidosis">Mannosidosis</a></span></li><li><span class="TLline"><a href="/medgen/7731" ref="tree=MeSH" title="MedGen record for Mucolipidosis">Mucolipidosis</a></span></li><li><span class="TLline"><a href="/medgen/7733" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis">Mucopolysaccharidosis</a></span></li><li><span class="TLline"><a href="/medgen/10119" ref="tree=MeSH" title="MedGen record for Multiple carboxylase deficiency">Multiple carboxylase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/5697" ref="tree=MeSH" title="MedGen record for Primary hyperoxaluria">Primary hyperoxaluria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/675093" ref="tree=MeSH" title="MedGen record for Intestinal disaccharidase deficiency">Intestinal disaccharidase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/120618" ref="tree=MeSH" title="MedGen record for Phosphoenolpyruvate carboxykinase (GTP) deficiency">Phosphoenolpyruvate carboxykinase (GTP) deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/501203" ref="tree=MeSH" title="MedGen record for Carnosinemia">Carnosinemia</a></span></li><li><span class="TLline"><a href="/medgen/1377817" ref="tree=MeSH" title="MedGen record for Combined oxidative phosphorylation defect type 8">Combined oxidative phosphorylation defect type 8</a></span></li><li><span class="TLline"><a href="/medgen/1623699" ref="tree=MeSH" title="MedGen record for Combined oxidative phosphorylation deficiency 33">Combined oxidative phosphorylation deficiency 33</a></span></li><li><span class="TLline"><a href="/medgen/409522" ref="tree=MeSH" title="MedGen record for Dihydropyrimidine dehydrogenase deficiency">Dihydropyrimidine dehydrogenase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/776457" ref="tree=MeSH" title="MedGen record for Fluoropyrimidine response">Fluoropyrimidine response</a></span><ul><li><span class="TLline"><a href="/medgen/450435" ref="tree=MeSH" title="MedGen record for Capecitabine response">Capecitabine response</a></span></li><li><span class="TLline"><a href="/medgen/450455" ref="tree=MeSH" title="MedGen record for Fluorouracil response">Fluorouracil response</a></span></li><li><span class="TLline"><a href="/medgen/338948" ref="tree=MeSH" title="MedGen record for Tegafur response">Tegafur response</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/714" ref="tree=MeSH" title="MedGen record for disorder of calcium metabolism">disorder of calcium metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/709" ref="tree=MeSH" title="MedGen record for Calcinosis">Calcinosis</a></span><ul><li><span class="TLline"><a href="/medgen/105455" ref="tree=MeSH" title="MedGen record for Breast microcalcification">Breast microcalcification</a></span></li><li><span class="TLline"><a href="/medgen/2404" ref="tree=MeSH" title="MedGen record for Calciphylaxis">Calciphylaxis</a></span></li><li><span class="TLline"><a href="/medgen/124360" ref="tree=MeSH" title="MedGen record for Cerebral calcification">Cerebral calcification</a></span></li><li><span class="TLline"><a href="/medgen/313987" ref="tree=MeSH" title="MedGen record for Chicken Wire Calcification">Chicken Wire Calcification</a></span></li><li><span class="TLline"><a href="/medgen/60083" ref="tree=MeSH" title="MedGen record for CREST syndrome">CREST syndrome</a></span></li><li><span class="TLline"><a href="/medgen/87170" ref="tree=MeSH" title="MedGen record for Dystrophic calcification">Dystrophic calcification</a></span></li><li><span class="TLline"><a href="/medgen/575156" ref="tree=MeSH" title="MedGen record for Extraosseous Calcification">Extraosseous Calcification</a></span></li><li><span class="TLline"><a href="/medgen/10222" ref="tree=MeSH" title="MedGen record for Nephrocalcinosis">Nephrocalcinosis</a></span></li><li><span class="TLline"><a href="/medgen/75539" ref="tree=MeSH" title="MedGen record for Tracheal calcification">Tracheal calcification</a></span></li><li><span class="TLline"><a href="/medgen/90990" ref="tree=MeSH" title="MedGen record for Vascular calcification">Vascular calcification</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/4161" ref="tree=MeSH" title="MedGen record for Decalcification, Pathologic">Decalcification, Pathologic</a></span></li><li><span class="TLline"><a href="/medgen/5686" ref="tree=MeSH" title="MedGen record for Hypercalcemia">Hypercalcemia</a></span><ul><li><span class="TLline"><a href="/medgen/56210" ref="tree=MeSH" title="MedGen record for Humoral hypercalcemia of malignancy">Humoral hypercalcemia of malignancy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5705" ref="tree=MeSH" title="MedGen record for Hypocalcemia">Hypocalcemia</a></span><ul><li><span class="TLline"><a href="/medgen/11748" ref="tree=MeSH" title="MedGen record for Tetany">Tetany</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/46178" ref="tree=MeSH" title="MedGen record for Pseudohypoparathyroidism">Pseudohypoparathyroidism</a></span><ul><li><span class="TLline"><a href="/medgen/350343" ref="tree=MeSH" title="MedGen record for Pseudohypoparathyroidism type 1B">Pseudohypoparathyroidism type 1B</a></span></li><li><span class="TLline"><a href="/medgen/420958" ref="tree=MeSH" title="MedGen record for Pseudohypoparathyroidism type 1C">Pseudohypoparathyroidism type 1C</a></span></li><li><span class="TLline"><a href="/medgen/488447" ref="tree=MeSH" title="MedGen record for Pseudohypoparathyroidism type I A">Pseudohypoparathyroidism type I A</a></span></li><li><span class="TLline"><a href="/medgen/444371" ref="tree=MeSH" title="MedGen record for Pseudohypoparathyroidism type II">Pseudohypoparathyroidism type II</a></span></li><li><span class="TLline"><a href="/medgen/10995" ref="tree=MeSH" title="MedGen record for Pseudopseudohypoparathyroidism">Pseudopseudohypoparathyroidism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/48470" ref="tree=MeSH" title="MedGen record for Rickets">Rickets</a></span><ul><li><span class="TLline"><a href="/medgen/476088" ref="tree=MeSH" title="MedGen record for Acquired Rickets">Acquired Rickets</a></span></li><li><span class="TLline"><a href="/medgen/854493" ref="tree=MeSH" title="MedGen record for Adult Rickets">Adult Rickets</a></span></li><li><span class="TLline"><a href="/medgen/1384003" ref="tree=MeSH" title="MedGen record for Calcium Deficiency Rickets">Calcium Deficiency Rickets</a></span></li><li><span class="TLline"><a href="/medgen/474722" ref="tree=MeSH" title="MedGen record for Childhood Rickets">Childhood Rickets</a></span></li><li><span class="TLline"><a href="/medgen/885556" ref="tree=MeSH" title="MedGen record for Chronic kidney disease mineral and bone disorder">Chronic kidney disease mineral and bone disorder</a></span></li><li><span class="TLline"><a href="/medgen/168056" ref="tree=MeSH" title="MedGen record for Dent disease">Dent disease</a></span></li><li><span class="TLline"><a href="/medgen/196551" ref="tree=MeSH" title="MedGen record for Familial X-linked hypophosphatemic vitamin D refractory rickets">Familial X-linked hypophosphatemic vitamin D refractory rickets</a></span></li><li><span class="TLline"><a href="/medgen/927864" ref="tree=MeSH" title="MedGen record for Hypocalcemic rickets">Hypocalcemic rickets</a></span></li><li><span class="TLline"><a href="/medgen/309957" ref="tree=MeSH" title="MedGen record for Hypophosphatemic rickets">Hypophosphatemic rickets</a></span></li><li><span class="TLline"><a href="/medgen/1385792" ref="tree=MeSH" title="MedGen record for Nutritional Rickets">Nutritional Rickets</a></span></li><li><span class="TLline"><a href="/medgen/1378008" ref="tree=MeSH" title="MedGen record for Vitamin D Dependent Rickets 2">Vitamin D Dependent Rickets 2</a></span></li><li><span class="TLline"><a href="/medgen/526251" ref="tree=MeSH" title="MedGen record for Vitamin D-dependent rickets">Vitamin D-dependent rickets</a></span></li><li><span class="TLline"><a href="/medgen/90989" ref="tree=MeSH" title="MedGen record for Vitamin D-dependent rickets type II with alopecia">Vitamin D-dependent rickets type II with alopecia</a></span></li><li><span class="TLline"><a href="/medgen/760752" ref="tree=MeSH" title="MedGen record for Vitamin D-dependent rickets, type 2">Vitamin D-dependent rickets, type 2</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/883839" ref="tree=MeSH" title="MedGen record for Disturbance of Temperature Regulation">Disturbance of Temperature Regulation</a></span></li><li><span class="TLline"><a href="/medgen/327583" ref="tree=MeSH" title="MedGen record for DNA Repair-Deficiency Disorders">DNA Repair-Deficiency Disorders</a></span><ul><li><span class="TLline"><a href="/medgen/439" ref="tree=MeSH" title="MedGen record for Ataxia-telangiectasia syndrome">Ataxia-telangiectasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/2685" ref="tree=MeSH" title="MedGen record for Bloom syndrome">Bloom syndrome</a></span></li><li><span class="TLline"><a href="/medgen/40363" ref="tree=MeSH" title="MedGen record for Cockayne syndrome">Cockayne syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/155488" ref="tree=MeSH" title="MedGen record for Cockayne syndrome type 1">Cockayne syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/155487" ref="tree=MeSH" title="MedGen record for Cockayne syndrome type 2">Cockayne syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/196713" ref="tree=MeSH" title="MedGen record for Cockayne syndrome type 3">Cockayne syndrome type 3</a></span></li><li><span class="TLline"><a href="/medgen/1762238" ref="tree=MeSH" title="MedGen record for COFS syndrome">COFS syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/41967" ref="tree=MeSH" title="MedGen record for Fanconi anemia">Fanconi anemia</a></span><ul><li><span class="TLline"><a href="/medgen/483333" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group A">Fanconi anemia complementation group A</a></span></li><li><span class="TLline"><a href="/medgen/336901" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group B">Fanconi anemia complementation group B</a></span></li><li><span class="TLline"><a href="/medgen/483324" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group C">Fanconi anemia complementation group C</a></span></li><li><span class="TLline"><a href="/medgen/325420" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group D1">Fanconi anemia complementation group D1</a></span></li><li><span class="TLline"><a href="/medgen/463627" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group D2">Fanconi anemia complementation group D2</a></span></li><li><span class="TLline"><a href="/medgen/463628" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group E">Fanconi anemia complementation group E</a></span></li><li><span class="TLline"><a href="/medgen/854016" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group F">Fanconi anemia complementation group F</a></span></li><li><span class="TLline"><a href="/medgen/854017" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group G">Fanconi anemia complementation group G</a></span></li><li><span class="TLline"><a href="/medgen/323016" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group I">Fanconi anemia complementation group I</a></span></li><li><span class="TLline"><a href="/medgen/323015" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group J">Fanconi anemia complementation group J</a></span></li><li><span class="TLline"><a href="/medgen/854018" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group L">Fanconi anemia complementation group L</a></span></li><li><span class="TLline"><a href="/medgen/372133" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group N">Fanconi anemia complementation group N</a></span></li><li><span class="TLline"><a href="/medgen/462003" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group O">Fanconi anemia complementation group O</a></span></li><li><span class="TLline"><a href="/medgen/854020" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group P">Fanconi anemia complementation group P</a></span></li><li><span class="TLline"><a href="/medgen/854019" ref="tree=MeSH" title="MedGen record for Fanconi anemia, complementation group M">Fanconi anemia, complementation group M</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/40399" ref="tree=MeSH" title="MedGen record for Hereditary nonpolyposis colorectal neoplasms">Hereditary nonpolyposis colorectal neoplasms</a></span><ul><li><span class="TLline"><a href="/medgen/232603" ref="tree=MeSH" title="MedGen record for Colorectal cancer, hereditary nonpolyposis, type 2">Colorectal cancer, hereditary nonpolyposis, type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/88399" ref="tree=MeSH" title="MedGen record for Li-Fraumeni syndrome">Li-Fraumeni syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/322930" ref="tree=MeSH" title="MedGen record for CHEK2-Associated Li-Fraumeni-Like Syndrome">CHEK2-Associated Li-Fraumeni-Like Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/322656" ref="tree=MeSH" title="MedGen record for Li-Fraumeni syndrome 1">Li-Fraumeni syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1849727" ref="tree=MeSH" title="MedGen record for Li-Fraumeni syndrome 2">Li-Fraumeni syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/140771" ref="tree=MeSH" title="MedGen record for Microcephaly, normal intelligence and immunodeficiency">Microcephaly, normal intelligence and immunodeficiency</a></span></li><li><span class="TLline"><a href="/medgen/10819" ref="tree=MeSH" title="MedGen record for Rothmund-Thomson syndrome">Rothmund-Thomson syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1684764" ref="tree=MeSH" title="MedGen record for Rothmund-Thomson syndrome type 1">Rothmund-Thomson syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/1684753" ref="tree=MeSH" title="MedGen record for Rothmund-Thomson syndrome type 2">Rothmund-Thomson syndrome type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/88328" ref="tree=MeSH" title="MedGen record for Severe combined immunodeficiency disease">Severe combined immunodeficiency disease</a></span><ul><li><span class="TLline"><a href="/medgen/120610" ref="tree=MeSH" title="MedGen record for Adenosine deaminase deficiency">Adenosine deaminase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/400751" ref="tree=MeSH" title="MedGen record for Athabaskan severe combined immunodeficiency">Athabaskan severe combined immunodeficiency</a></span></li><li><span class="TLline"><a href="/medgen/398130" ref="tree=MeSH" title="MedGen record for Histiocytic medullary reticulosis">Histiocytic medullary reticulosis</a></span></li><li><span class="TLline"><a href="/medgen/1791958" ref="tree=MeSH" title="MedGen record for Leaky Severe Combined Immunodeficiency">Leaky Severe Combined Immunodeficiency</a></span></li><li><span class="TLline"><a href="/medgen/1781237" ref="tree=MeSH" title="MedGen record for MHC class II deficiency">MHC class II deficiency</a></span></li><li><span class="TLline"><a href="/medgen/75653" ref="tree=MeSH" title="MedGen record for Purine-nucleoside phosphorylase deficiency">Purine-nucleoside phosphorylase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/69211" ref="tree=MeSH" title="MedGen record for SCID (severe combined immunodeficiency) due to absent class II HLA (human leukocyte antigens)">SCID (severe combined immunodeficiency) due to absent class II HLA (human leukocyte antigens)</a></span></li><li><span class="TLline"><a href="/medgen/863270" ref="tree=MeSH" title="MedGen record for Severe combined immunodeficiency due to DNA-PKcs deficiency">Severe combined immunodeficiency due to DNA-PKcs deficiency</a></span></li><li><span class="TLline"><a href="/medgen/364745" ref="tree=MeSH" title="MedGen record for Severe Combined Immunodeficiency with Absence of T and B Cells">Severe Combined Immunodeficiency with Absence of T and B Cells</a></span></li><li><span class="TLline"><a href="/medgen/364744" ref="tree=MeSH" title="MedGen record for Severe Combined Immunodeficiency with Absence of T, Normal B Cells">Severe Combined Immunodeficiency with Absence of T, Normal B Cells</a></span></li><li><span class="TLline"><a href="/medgen/354935" ref="tree=MeSH" title="MedGen record for Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency">Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/373235" ref="tree=MeSH" title="MedGen record for Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B Cell-Positive, NK Cell-Positive">Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B Cell-Positive, NK Cell-Positive</a></span></li><li><span class="TLline"><a href="/medgen/929461" ref="tree=MeSH" title="MedGen record for Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome">Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/331474" ref="tree=MeSH" title="MedGen record for T-B+ severe combined immunodeficiency due to JAK3 deficiency">T-B+ severe combined immunodeficiency due to JAK3 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/220906" ref="tree=MeSH" title="MedGen record for X-linked severe combined immunodeficiency">X-linked severe combined immunodeficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/12147" ref="tree=MeSH" title="MedGen record for Werner syndrome">Werner syndrome</a></span></li><li><span class="TLline"><a href="/medgen/21943" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum">Xeroderma pigmentosum</a></span><ul><li><span class="TLline"><a href="/medgen/468518" ref="tree=MeSH" title="MedGen record for ERCC1-Related Xeroderma Pigmentosum">ERCC1-Related Xeroderma Pigmentosum</a></span></li><li><span class="TLline"><a href="/medgen/82775" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum group A">Xeroderma pigmentosum group A</a></span></li><li><span class="TLline"><a href="/medgen/78643" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum group B">Xeroderma pigmentosum group B</a></span></li><li><span class="TLline"><a href="/medgen/376352" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum variant type">Xeroderma pigmentosum variant type</a></span></li><li><span class="TLline"><a href="/medgen/416702" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum, group C">Xeroderma pigmentosum, group C</a></span></li><li><span class="TLline"><a href="/medgen/75656" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum, group D">Xeroderma pigmentosum, group D</a></span></li><li><span class="TLline"><a href="/medgen/341219" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum, group E">Xeroderma pigmentosum, group E</a></span></li><li><span class="TLline"><a href="/medgen/120612" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum, group F">Xeroderma pigmentosum, group F</a></span></li><li><span class="TLline"><a href="/medgen/75657" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum, group G">Xeroderma pigmentosum, group G</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/8585" ref="tree=MeSH" title="MedGen record for Emaciated">Emaciated</a></span><ul><li><span class="TLline"><a href="/medgen/2773" ref="tree=MeSH" title="MedGen record for Cachexia">Cachexia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/42280" ref="tree=MeSH" title="MedGen record for Gout">Gout</a></span><ul><li><span class="TLline"><a href="/medgen/406" ref="tree=MeSH" title="MedGen record for Gouty arthropathy">Gouty arthropathy</a></span></li><li><span class="TLline"><a href="/medgen/450998" ref="tree=MeSH" title="MedGen record for Podagra">Podagra</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75700" ref="tree=MeSH" title="MedGen record for Hepatic methionine adenosyltransferase deficiency">Hepatic methionine adenosyltransferase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/322999" ref="tree=MeSH" title="MedGen record for Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1">Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1</a></span></li><li><span class="TLline"><a href="/medgen/343969" ref="tree=MeSH" title="MedGen record for HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6">HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6</a></span></li><li><span class="TLline"><a href="/medgen/162857" ref="tree=MeSH" title="MedGen record for Hyperlactatemia">Hyperlactatemia</a></span></li><li><span class="TLline"><a href="/medgen/9363" ref="tree=MeSH" title="MedGen record for Hyperlipoproteinemia">Hyperlipoproteinemia</a></span><ul><li><span class="TLline"><a href="/medgen/1863424" ref="tree=MeSH" title="MedGen record for Abnormal circulating lipoprotein(a) concentration">Abnormal circulating lipoprotein(a) concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1864378" ref="tree=MeSH" title="MedGen record for Elevated circulating lipoprotein(a) concentration">Elevated circulating lipoprotein(a) concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863626" ref="tree=MeSH" title="MedGen record for Reduced circulating lipoprotein(a) concentration">Reduced circulating lipoprotein(a) concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5688" ref="tree=MeSH" title="MedGen record for Familial hypercholesterolemia">Familial hypercholesterolemia</a></span><ul><li><span class="TLline"><a href="/medgen/575266" ref="tree=MeSH" title="MedGen record for Homozygous familial hypercholesterolemia">Homozygous familial hypercholesterolemia</a></span></li><li><span class="TLline"><a href="/medgen/355007" ref="tree=MeSH" title="MedGen record for Hypercholesterolemia, autosomal dominant, 3">Hypercholesterolemia, autosomal dominant, 3</a></span></li><li><span class="TLline"><a href="/medgen/309962" ref="tree=MeSH" title="MedGen record for Hypercholesterolemia, autosomal dominant, type B">Hypercholesterolemia, autosomal dominant, type B</a></span></li><li><span class="TLline"><a href="/medgen/152875" ref="tree=MeSH" title="MedGen record for Hypercholesterolemia, familial, 1">Hypercholesterolemia, familial, 1</a></span></li><li><span class="TLline"><a href="/medgen/400313" ref="tree=MeSH" title="MedGen record for Hypercholesterolemia, familial, 4">Hypercholesterolemia, familial, 4</a></span></li><li><span class="TLline"><a href="/medgen/6965" ref="tree=MeSH" title="MedGen record for Hyperlipidemia, familial combined, LPL related">Hyperlipidemia, familial combined, LPL related</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/9364" ref="tree=MeSH" title="MedGen record for Familial type 3 hyperlipoproteinemia">Familial type 3 hyperlipoproteinemia</a></span></li><li><span class="TLline"><a href="/medgen/5693" ref="tree=MeSH" title="MedGen record for Familial type 5 hyperlipoproteinemia">Familial type 5 hyperlipoproteinemia</a></span></li><li><span class="TLline"><a href="/medgen/87465" ref="tree=MeSH" title="MedGen record for Hyperalphalipoproteinemia">Hyperalphalipoproteinemia</a></span><ul><li><span class="TLline"><a href="/medgen/840020" ref="tree=MeSH" title="MedGen record for Cholesterol-ester transfer protein deficiency">Cholesterol-ester transfer protein deficiency</a></span></li><li><span class="TLline"><a href="/medgen/462816" ref="tree=MeSH" title="MedGen record for Hyperlipidemia due to hepatic triglyceride lipase deficiency">Hyperlipidemia due to hepatic triglyceride lipase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/9365" ref="tree=MeSH" title="MedGen record for Hyperlipoproteinemia type IV">Hyperlipoproteinemia type IV</a></span></li><li><span class="TLline"><a href="/medgen/7352" ref="tree=MeSH" title="MedGen record for Hyperlipoproteinemia, type I">Hyperlipoproteinemia, type I</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82816" ref="tree=MeSH" title="MedGen record for Hyperlysinemia">Hyperlysinemia</a></span></li><li><span class="TLline"><a href="/medgen/79469" ref="tree=MeSH" title="MedGen record for Hyperpipecolatemia">Hyperpipecolatemia</a></span></li><li><span class="TLline"><a href="/medgen/96877" ref="tree=MeSH" title="MedGen record for Hypoalphalipoproteinemia">Hypoalphalipoproteinemia</a></span><ul><li><span class="TLline"><a href="/medgen/9698" ref="tree=MeSH" title="MedGen record for Norum disease">Norum disease</a></span></li><li><span class="TLline"><a href="/medgen/52644" ref="tree=MeSH" title="MedGen record for Tangier disease">Tangier disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/43799" ref="tree=MeSH" title="MedGen record for Hypophosphatasia">Hypophosphatasia</a></span><ul><li><span class="TLline"><a href="/medgen/120636" ref="tree=MeSH" title="MedGen record for Adult hypophosphatasia">Adult hypophosphatasia</a></span></li><li><span class="TLline"><a href="/medgen/65089" ref="tree=MeSH" title="MedGen record for Childhood hypophosphatasia">Childhood hypophosphatasia</a></span></li><li><span class="TLline"><a href="/medgen/75677" ref="tree=MeSH" title="MedGen record for Infantile hypophosphatasia">Infantile hypophosphatasia</a></span></li><li><span class="TLline"><a href="/medgen/326709" ref="tree=MeSH" title="MedGen record for Odontohypophosphatasia">Odontohypophosphatasia</a></span></li><li><span class="TLline"><a href="/medgen/392928" ref="tree=MeSH" title="MedGen record for Perinatal lethal hypophosphatasia">Perinatal lethal hypophosphatasia</a></span></li><li><span class="TLline"><a href="/medgen/1842672" ref="tree=MeSH" title="MedGen record for Prenatal benign hypophosphatasia">Prenatal benign hypophosphatasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/12140" ref="tree=MeSH" title="MedGen record for Imbalances, Water-Electrolyte">Imbalances, Water-Electrolyte</a></span><ul><li><span class="TLline"><a href="/medgen/8273" ref="tree=MeSH" title="MedGen record for Dehydration">Dehydration</a></span><ul><li><span class="TLline"><a href="/medgen/340564" ref="tree=MeSH" title="MedGen record for Hypernatremic dehydration">Hypernatremic dehydration</a></span></li><li><span class="TLline"><a href="/medgen/205119" ref="tree=MeSH" title="MedGen record for Hypertonic dehydration">Hypertonic dehydration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5691" ref="tree=MeSH" title="MedGen record for Hyperkalemia">Hyperkalemia</a></span></li><li><span class="TLline"><a href="/medgen/6966" ref="tree=MeSH" title="MedGen record for Hypernatremia">Hypernatremia</a></span></li><li><span class="TLline"><a href="/medgen/5712" ref="tree=MeSH" title="MedGen record for Hypokalemia">Hypokalemia</a></span><ul><li><span class="TLline"><a href="/medgen/868360" ref="tree=MeSH" title="MedGen record for Episodic hypokalemia">Episodic hypokalemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6984" ref="tree=MeSH" title="MedGen record for Hyponatremia">Hyponatremia</a></span><ul><li><span class="TLline"><a href="/medgen/1789288" ref="tree=MeSH" title="MedGen record for Hyponatremia with Hypoosmolality">Hyponatremia with Hypoosmolality</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5772" ref="tree=MeSH" title="MedGen record for Inappropriate antidiuretic hormone secretion">Inappropriate antidiuretic hormone secretion</a></span></li><li><span class="TLline"><a href="/medgen/53061" ref="tree=MeSH" title="MedGen record for Water intoxication syndrome">Water intoxication syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6323" ref="tree=MeSH" title="MedGen record for Inborn errors of metabolism">Inborn errors of metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/412535" ref="tree=MeSH" title="MedGen record for 2-hydroxyglutaric aciduria">2-hydroxyglutaric aciduria</a></span><ul><li><span class="TLline"><a href="/medgen/1802316" ref="tree=MeSH" title="MedGen record for D,L-2-hydroxyglutaric aciduria">D,L-2-hydroxyglutaric aciduria</a></span></li><li><span class="TLline"><a href="/medgen/322192" ref="tree=MeSH" title="MedGen record for D-2-hydroxyglutaric aciduria">D-2-hydroxyglutaric aciduria</a></span></li><li><span class="TLline"><a href="/medgen/341029" ref="tree=MeSH" title="MedGen record for L-2-hydroxyglutaric aciduria">L-2-hydroxyglutaric aciduria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/199725" ref="tree=MeSH" title="MedGen record for Amino Acid Transport Disorders, Inborn">Amino Acid Transport Disorders, Inborn</a></span><ul><li><span class="TLline"><a href="/medgen/18145" ref="tree=MeSH" title="MedGen record for Lowe syndrome">Lowe syndrome</a></span></li><li><span class="TLline"><a href="/medgen/6723" ref="tree=MeSH" title="MedGen record for Neutral 1 amino acid transport defect">Neutral 1 amino acid transport defect</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66323" ref="tree=MeSH" title="MedGen record for Biotinidase deficiency">Biotinidase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/156005" ref="tree=MeSH" title="MedGen record for Brain Diseases, Metabolic, Inborn">Brain Diseases, Metabolic, Inborn</a></span><ul><li><span class="TLline"><a href="/medgen/57667" ref="tree=MeSH" title="MedGen record for Adrenoleukodystrophy">Adrenoleukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/87453" ref="tree=MeSH" title="MedGen record for Deficiency of mevalonate kinase">Deficiency of mevalonate kinase</a></span></li><li><span class="TLline"><a href="/medgen/57586" ref="tree=MeSH" title="MedGen record for Disorder of the urea cycle metabolism">Disorder of the urea cycle metabolism</a></span></li><li><span class="TLline"><a href="/medgen/155625" ref="tree=MeSH" title="MedGen record for Glycine encephalopathy">Glycine encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/148407" ref="tree=MeSH" title="MedGen record for Hereditary Central Nervous System Demyelinating Diseases">Hereditary Central Nervous System Demyelinating Diseases</a></span></li><li><span class="TLline"><a href="/medgen/541332" ref="tree=MeSH" title="MedGen record for Hereditary hypertyrosinemia">Hereditary hypertyrosinemia</a></span></li><li><span class="TLline"><a href="/medgen/42485" ref="tree=MeSH" title="MedGen record for Homocystinuria">Homocystinuria</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><li><span class="TLline"><a href="/medgen/44095" ref="tree=MeSH" title="MedGen record for Leigh disease">Leigh disease</a></span></li><li><span class="TLline"><a href="/medgen/9721" ref="tree=MeSH" title="MedGen record for Lesch-Nyhan syndrome">Lesch-Nyhan syndrome</a></span></li><li><span class="TLline"><a href="/medgen/148380" ref="tree=MeSH" title="MedGen record for Lysosomal Storage Diseases, Nervous System">Lysosomal Storage Diseases, Nervous System</a></span></li><li><span class="TLline"><a href="/medgen/6217" ref="tree=MeSH" title="MedGen record for Maple syrup urine disease">Maple syrup urine disease</a></span></li><li><span class="TLline"><a href="/medgen/56485" ref="tree=MeSH" title="MedGen record for MELAS syndrome">MELAS syndrome</a></span></li><li><span class="TLline"><a href="/medgen/44030" ref="tree=MeSH" title="MedGen record for Menkes kinky-hair syndrome">Menkes kinky-hair syndrome</a></span></li><li><span class="TLline"><a href="/medgen/56486" ref="tree=MeSH" title="MedGen record for MERRF syndrome">MERRF syndrome</a></span></li><li><span class="TLline"><a href="/medgen/79470" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 1B">Peroxisome biogenesis disorder 1B</a></span></li><li><span class="TLline"><a href="/medgen/19244" ref="tree=MeSH" title="MedGen record for Phenylketonuria">Phenylketonuria</a></span></li><li><span class="TLline"><a href="/medgen/11161" ref="tree=MeSH" title="MedGen record for Phytanic acid storage disease">Phytanic acid storage disease</a></span></li><li><span class="TLline"><a href="/medgen/18801" ref="tree=MeSH" title="MedGen record for Pyruvate carboxylase deficiency">Pyruvate carboxylase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/19610" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase complex deficiency">Pyruvate dehydrogenase complex deficiency</a></span></li><li><span class="TLline"><a href="/medgen/42426" ref="tree=MeSH" title="MedGen record for Wilson disease">Wilson disease</a></span></li><li><span class="TLline"><a href="/medgen/21958" ref="tree=MeSH" title="MedGen record for Zellweger spectrum disorders">Zellweger spectrum disorders</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/67438" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy">Congenital generalized lipodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/318592" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy type 1">Congenital generalized lipodystrophy type 1</a></span></li><li><span class="TLline"><a href="/medgen/318593" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy type 2">Congenital generalized lipodystrophy type 2</a></span></li><li><span class="TLline"><a href="/medgen/436541" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy type 3">Congenital generalized lipodystrophy type 3</a></span></li><li><span class="TLline"><a href="/medgen/412871" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy type 4">Congenital generalized lipodystrophy type 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75662" ref="tree=MeSH" title="MedGen record for Cytochrome-c oxidase deficiency">Cytochrome-c oxidase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/489898" ref="tree=MeSH" title="MedGen record for Deficiency of bisphosphoglycerate mutase">Deficiency of bisphosphoglycerate mutase</a></span></li><li><span class="TLline"><a href="/medgen/713875" ref="tree=MeSH" title="MedGen record for Deficiency of enolase">Deficiency of enolase</a></span></li><li><span class="TLline"><a href="/medgen/584936" ref="tree=MeSH" title="MedGen record for Deficiency of hexokinase">Deficiency of hexokinase</a></span></li><li><span class="TLline"><a href="/medgen/468982" ref="tree=MeSH" title="MedGen record for Disorder of organic acid metabolism">Disorder of organic acid metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/777186" ref="tree=MeSH" title="MedGen record for 3-Methylglutaconic aciduria">3-Methylglutaconic aciduria</a></span></li><li><span class="TLline"><a href="/medgen/341256" ref="tree=MeSH" title="MedGen record for Cobalamin C disease">Cobalamin C disease</a></span></li><li><span class="TLline"><a href="/medgen/280689" ref="tree=MeSH" title="MedGen record for Deficiency of acetyl-CoA acetyltransferase">Deficiency of acetyl-CoA acetyltransferase</a></span></li><li><span class="TLline"><a href="/medgen/78692" ref="tree=MeSH" title="MedGen record for Deficiency of hydroxymethylglutaryl-CoA lyase">Deficiency of hydroxymethylglutaryl-CoA lyase</a></span></li><li><span class="TLline"><a href="/medgen/124337" ref="tree=MeSH" title="MedGen record for Glutaric aciduria, type 1">Glutaric aciduria, type 1</a></span></li><li><span class="TLline"><a href="/medgen/82822" ref="tree=MeSH" title="MedGen record for Isovaleryl-CoA dehydrogenase deficiency">Isovaleryl-CoA dehydrogenase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1633312" ref="tree=MeSH" title="MedGen record for Methylcrotonyl-CoA carboxylase deficiency">Methylcrotonyl-CoA carboxylase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/479882" ref="tree=MeSH" title="MedGen record for Erythrocyte Adenylate Kinase Deficiency">Erythrocyte Adenylate Kinase Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/360297" ref="tree=MeSH" title="MedGen record for Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome">Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/42106" ref="tree=MeSH" title="MedGen record for Fructose-biphosphatase deficiency">Fructose-biphosphatase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/584934" ref="tree=MeSH" title="MedGen record for Glucose phosphate isomerase deficiency">Glucose phosphate isomerase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1790766" ref="tree=MeSH" title="MedGen record for Glucose-6-Phosphatase 3 Deficiency">Glucose-6-Phosphatase 3 Deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/414066" ref="tree=MeSH" title="MedGen record for Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency">Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/97988" ref="tree=MeSH" title="MedGen record for Glutathione synthetase deficiency with 5-oxoprolinuria">Glutathione synthetase deficiency with 5-oxoprolinuria</a></span></li><li><span class="TLline"><a href="/medgen/410166" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to phosphoglycerate kinase 1 deficiency">Glycogen storage disease due to phosphoglycerate kinase 1 deficiency</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/82799" ref="tree=MeSH" title="MedGen record for Familial visceral amyloidosis, Ostertag type">Familial visceral amyloidosis, Ostertag type</a></span></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/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/42105" ref="tree=MeSH" title="MedGen record for Hereditary fructosuria">Hereditary fructosuria</a></span></li><li><span class="TLline"><a href="/medgen/6963" ref="tree=MeSH" title="MedGen record for Hereditary hyperbilirubinemia">Hereditary hyperbilirubinemia</a></span><ul><li><span class="TLline"><a href="/medgen/1789261" ref="tree=MeSH" title="MedGen record for Crigler-Najjar syndrome">Crigler-Najjar syndrome</a></span></li><li><span class="TLline"><a href="/medgen/41346" ref="tree=MeSH" title="MedGen record for Crigler-Najjar syndrome type 1">Crigler-Najjar syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/7181" ref="tree=MeSH" title="MedGen record for Dubin-Johnson syndrome">Dubin-Johnson syndrome</a></span></li><li><span class="TLline"><a href="/medgen/4891" ref="tree=MeSH" title="MedGen record for Gilbert syndrome">Gilbert syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/472940" ref="tree=MeSH" title="MedGen record for Hereditary orotic aciduria">Hereditary orotic aciduria</a></span></li><li><span class="TLline"><a href="/medgen/1391920" ref="tree=MeSH" title="MedGen record for Hexose-6-phosphate Dehydrogenase Deficiency">Hexose-6-phosphate Dehydrogenase Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/120653" ref="tree=MeSH" title="MedGen record for Holocarboxylase synthetase deficiency">Holocarboxylase synthetase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/46123" ref="tree=MeSH" title="MedGen record for Hutchinson-Gilford syndrome">Hutchinson-Gilford syndrome</a></span></li><li><span class="TLline"><a href="/medgen/48263" ref="tree=MeSH" title="MedGen record for Inborn disorder of purine or pyrimidine metabolism">Inborn disorder of purine or pyrimidine metabolism</a></span></li><li><span class="TLline"><a href="/medgen/1867" ref="tree=MeSH" title="MedGen record for Inborn error of amino acid metabolism">Inborn error of amino acid metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/182" ref="tree=MeSH" title="MedGen record for Albinism">Albinism</a></span></li><li><span class="TLline"><a href="/medgen/1413" ref="tree=MeSH" title="MedGen record for Alkaptonuria">Alkaptonuria</a></span></li><li><span class="TLline"><a href="/medgen/78688" ref="tree=MeSH" title="MedGen record for Arginase deficiency">Arginase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/417702" ref="tree=MeSH" title="MedGen record for Beta-Methylcrotonylglycinuria">Beta-Methylcrotonylglycinuria</a></span></li><li><span class="TLline"><a href="/medgen/90998" ref="tree=MeSH" title="MedGen record for Deficiency of butyryl-CoA dehydrogenase">Deficiency of butyryl-CoA dehydrogenase</a></span></li><li><span class="TLline"><a href="/medgen/108623" ref="tree=MeSH" title="MedGen record for Hyperhomocysteinemia">Hyperhomocysteinemia</a></span></li><li><span class="TLline"><a href="/medgen/75696" ref="tree=MeSH" title="MedGen record for Multiple acyl-CoA dehydrogenase deficiency">Multiple acyl-CoA dehydrogenase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/120647" ref="tree=MeSH" title="MedGen record for Prolidase deficiency">Prolidase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6325" ref="tree=MeSH" title="MedGen record for Inborn metal metabolism disorder">Inborn metal metabolism disorder</a></span><ul><li><span class="TLline"><a href="/medgen/5713" ref="tree=MeSH" title="MedGen record for Familial Hypophosphatemias">Familial Hypophosphatemias</a></span></li><li><span class="TLline"><a href="/medgen/18291" ref="tree=MeSH" title="MedGen record for Familial periodic paralysis">Familial periodic paralysis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57587" ref="tree=MeSH" title="MedGen record for Inherited lipid metabolism disorder">Inherited lipid metabolism disorder</a></span><ul><li><span class="TLline"><a href="/medgen/75667" ref="tree=MeSH" title="MedGen record for 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency">3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1253" ref="tree=MeSH" title="MedGen record for Abetalipoproteinaemia">Abetalipoproteinaemia</a></span></li><li><span class="TLline"><a href="/medgen/468968" ref="tree=MeSH" title="MedGen record for Disorder of fatty acid metabolism">Disorder of fatty acid metabolism</a></span></li><li><span class="TLline"><a href="/medgen/66067" ref="tree=MeSH" title="MedGen record for Dyslipidemia">Dyslipidemia</a></span></li><li><span class="TLline"><a href="/medgen/78654" ref="tree=MeSH" title="MedGen record for Farber lipogranulomatosis">Farber lipogranulomatosis</a></span></li><li><span class="TLline"><a href="/medgen/6106" ref="tree=MeSH" title="MedGen record for Lipid Metabolism, Inborn Errors">Lipid Metabolism, Inborn Errors</a></span></li><li><span class="TLline"><a href="/medgen/6111" ref="tree=MeSH" title="MedGen record for Lipodystrophy">Lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/9781" ref="tree=MeSH" title="MedGen record for Lipomatosis">Lipomatosis</a></span></li><li><span class="TLline"><a href="/medgen/370665" ref="tree=MeSH" title="MedGen record for Mitochondrial trifunctional protein deficiency">Mitochondrial trifunctional protein deficiency</a></span></li><li><span class="TLline"><a href="/medgen/52453" ref="tree=MeSH" title="MedGen record for Sphingolipidosis">Sphingolipidosis</a></span></li><li><span class="TLline"><a href="/medgen/21939" ref="tree=MeSH" title="MedGen record for Xanthomatosis">Xanthomatosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/474863" ref="tree=MeSH" title="MedGen record for Intermediary Metabolism Disorder">Intermediary Metabolism Disorder</a></span></li><li><span class="TLline"><a href="/medgen/43098" ref="tree=MeSH" title="MedGen record for Lysosomal storage disease">Lysosomal storage disease</a></span><ul><li><span class="TLline"><a href="/medgen/78674" ref="tree=MeSH" title="MedGen record for Acid phosphatase deficiency">Acid phosphatase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/78649" ref="tree=MeSH" title="MedGen record for Aspartylglucosaminuria">Aspartylglucosaminuria</a></span></li><li><span class="TLline"><a href="/medgen/40266" ref="tree=MeSH" title="MedGen record for Cholesteryl ester storage disease">Cholesteryl ester storage disease</a></span></li><li><span class="TLline"><a href="/medgen/82779" ref="tree=MeSH" title="MedGen record for Combined deficiency of sialidase AND beta galactosidase">Combined deficiency of sialidase AND beta galactosidase</a></span></li><li><span class="TLline"><a href="/medgen/1384792" ref="tree=MeSH" title="MedGen record for Cystinosis">Cystinosis</a></span></li><li><span class="TLline"><a href="/medgen/8083" ref="tree=MeSH" title="MedGen record for Fabry disease">Fabry disease</a></span></li><li><span class="TLline"><a href="/medgen/42164" ref="tree=MeSH" title="MedGen record for Gaucher disease">Gaucher disease</a></span></li><li><span class="TLline"><a href="/medgen/43107" ref="tree=MeSH" title="MedGen record for GM1 gangliosidosis">GM1 gangliosidosis</a></span></li><li><span class="TLline"><a href="/medgen/462251" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia 48">Hereditary spastic paraplegia 48</a></span></li><li><span class="TLline"><a href="/medgen/6071" ref="tree=MeSH" title="MedGen record for Metachromatic leukodystrophy">Metachromatic leukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/75664" ref="tree=MeSH" title="MedGen record for Multiple sulfatase deficiency">Multiple sulfatase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/116061" ref="tree=MeSH" title="MedGen record for Pyknodysostosis">Pyknodysostosis</a></span></li><li><span class="TLline"><a href="/medgen/11313" ref="tree=MeSH" title="MedGen record for Sandhoff disease">Sandhoff disease</a></span></li><li><span class="TLline"><a href="/medgen/137980" ref="tree=MeSH" title="MedGen record for Sialuria">Sialuria</a></span></li><li><span class="TLline"><a href="/medgen/10348" ref="tree=MeSH" title="MedGen record for Sphingomyelin/cholesterol lipidosis">Sphingomyelin/cholesterol lipidosis</a></span></li><li><span class="TLline"><a href="/medgen/78657" ref="tree=MeSH" title="MedGen record for Tay-Sachs disease, variant AB">Tay-Sachs disease, variant AB</a></span></li><li><span class="TLline"><a href="/medgen/53088" ref="tree=MeSH" title="MedGen record for Wolman disease">Wolman disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10326" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis">Neuronal ceroid lipofuscinosis</a></span><ul><li><span class="TLline"><a href="/medgen/7230" ref="tree=MeSH" title="MedGen record for Adult neuronal ceroid lipofuscinosis">Adult neuronal ceroid lipofuscinosis</a></span></li><li><span class="TLline"><a href="/medgen/320287" ref="tree=MeSH" title="MedGen record for Ceroid lipofuscinosis, neuronal, 4 (Kufs type)">Ceroid lipofuscinosis, neuronal, 4 (Kufs type)</a></span></li><li><span class="TLline"><a href="/medgen/1790423" ref="tree=MeSH" title="MedGen record for Ceroid lipofuscinosis, neuronal, 6A">Ceroid lipofuscinosis, neuronal, 6A</a></span></li><li><span class="TLline"><a href="/medgen/351189" ref="tree=MeSH" title="MedGen record for Congenital neuronal ceroid lipofuscinosis">Congenital neuronal ceroid lipofuscinosis</a></span></li><li><span class="TLline"><a href="/medgen/75666" ref="tree=MeSH" title="MedGen record for Infantile neuronal ceroid lipofuscinosis">Infantile neuronal ceroid lipofuscinosis</a></span></li><li><span class="TLline"><a href="/medgen/978346" ref="tree=MeSH" title="MedGen record for Juvenile neuronal ceroid lipofuscinosis">Juvenile neuronal ceroid lipofuscinosis</a></span></li><li><span class="TLline"><a href="/medgen/9589" ref="tree=MeSH" title="MedGen record for Late-infantile neuronal ceroid lipofuscinosis">Late-infantile neuronal ceroid lipofuscinosis</a></span></li><li><span class="TLline"><a href="/medgen/340540" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 1">Neuronal ceroid lipofuscinosis 1</a></span></li><li><span class="TLline"><a href="/medgen/155549" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 3">Neuronal ceroid lipofuscinosis 3</a></span></li><li><span class="TLline"><a href="/medgen/376792" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 5">Neuronal ceroid lipofuscinosis 5</a></span></li><li><span class="TLline"><a href="/medgen/325457" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 7">Neuronal ceroid lipofuscinosis 7</a></span></li><li><span class="TLline"><a href="/medgen/332304" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 9">Neuronal ceroid lipofuscinosis 9</a></span></li><li><span class="TLline"><a href="/medgen/350481" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 10">Neuronal ceroid lipofuscinosis 10</a></span></li><li><span class="TLline"><a href="/medgen/355328" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 8 northern epilepsy variant">Neuronal ceroid lipofuscinosis 8 northern epilepsy variant</a></span></li><li><span class="TLline"><a href="/medgen/924712" ref="tree=MeSH" title="MedGen record for Neuronal Ceroid Lipofuscinosis Type 4B">Neuronal Ceroid Lipofuscinosis Type 4B</a></span></li><li><span class="TLline"><a href="/medgen/830971" ref="tree=MeSH" title="MedGen record for Parkinsonism due to ATP13A2 deficiency">Parkinsonism due to ATP13A2 deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/129185" ref="tree=MeSH" title="MedGen record for Peroxisomal disorder">Peroxisomal disorder</a></span><ul><li><span class="TLline"><a href="/medgen/75679" ref="tree=MeSH" title="MedGen record for Acatalasia">Acatalasia</a></span></li><li><span class="TLline"><a href="/medgen/507284" ref="tree=MeSH" title="MedGen record for CADDS">CADDS</a></span></li><li><span class="TLline"><a href="/medgen/79471" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata">Rhizomelic chondrodysplasia punctata</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1737580" ref="tree=MeSH" title="MedGen record for PIGA Deficiency">PIGA Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/473069" ref="tree=MeSH" title="MedGen record for Pyruvate kinase deficiency of red cells">Pyruvate kinase deficiency of red cells</a></span></li><li><span class="TLline"><a href="/medgen/19728" ref="tree=MeSH" title="MedGen record for Renal tubular transport disease">Renal tubular transport disease</a></span><ul><li><span class="TLline"><a href="/medgen/2172" ref="tree=MeSH" title="MedGen record for Bartter syndrome">Bartter syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75681" ref="tree=MeSH" title="MedGen record for Familial hypokalemia-hypomagnesemia">Familial hypokalemia-hypomagnesemia</a></span></li><li><span class="TLline"><a href="/medgen/757652" ref="tree=MeSH" title="MedGen record for Familial renal glucosuria">Familial renal glucosuria</a></span></li><li><span class="TLline"><a href="/medgen/4653" ref="tree=MeSH" title="MedGen record for Fanconi syndrome">Fanconi syndrome</a></span></li><li><span class="TLline"><a href="/medgen/67439" ref="tree=MeSH" title="MedGen record for Liddle syndrome">Liddle syndrome</a></span></li><li><span class="TLline"><a href="/medgen/18721" ref="tree=MeSH" title="MedGen record for Pseudohypoaldosteronism">Pseudohypoaldosteronism</a></span></li><li><span class="TLline"><a href="/medgen/254" ref="tree=MeSH" title="MedGen record for Renal aminoaciduria">Renal aminoaciduria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/219772" ref="tree=MeSH" title="MedGen record for Steroid inherited metabolic disorder">Steroid inherited metabolic disorder</a></span><ul><li><span class="TLline"><a href="/medgen/389937" ref="tree=MeSH" title="MedGen record for Antley-Bixler Syndrome Phenotype">Antley-Bixler Syndrome Phenotype</a></span></li><li><span class="TLline"><a href="/medgen/90983" ref="tree=MeSH" title="MedGen record for Apparent mineralocorticoid excess">Apparent mineralocorticoid excess</a></span></li><li><span class="TLline"><a href="/medgen/7900" ref="tree=MeSH" title="MedGen record for Congenital adrenal hyperplasia">Congenital adrenal hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/61231" ref="tree=MeSH" title="MedGen record for Smith-Lemli-Opitz syndrome">Smith-Lemli-Opitz syndrome</a></span></li><li><span class="TLline"><a href="/medgen/86937" ref="tree=MeSH" title="MedGen record for X-linked ichthyosis with steryl-sulfatase deficiency">X-linked ichthyosis with steryl-sulfatase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/220924" ref="tree=MeSH" title="MedGen record for Sucrase-isomaltase deficiency">Sucrase-isomaltase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/349893" ref="tree=MeSH" title="MedGen record for Triosephosphate isomerase deficiency">Triosephosphate isomerase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/574095" ref="tree=MeSH" title="MedGen record for Uridine monophosphate hydrolase deficiency">Uridine monophosphate hydrolase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8438" ref="tree=MeSH" title="MedGen record for Iron metabolism disease">Iron metabolism disease</a></span><ul><li><span class="TLline"><a href="/medgen/66001" ref="tree=MeSH" title="MedGen record for Iron deficiency">Iron deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/57668" ref="tree=MeSH" title="MedGen record for Iron deficiency anemia">Iron deficiency anemia</a></span></li><li><span class="TLline"><a href="/medgen/574088" ref="tree=MeSH" title="MedGen record for Iron deficiency without anemia">Iron deficiency without anemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/79398" ref="tree=MeSH" title="MedGen record for Iron Overload">Iron Overload</a></span><ul><li><span class="TLline"><a href="/medgen/42409" ref="tree=MeSH" title="MedGen record for Hemosiderosis">Hemosiderosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892475" ref="tree=MeSH" title="MedGen record for Isolated hyperferritinemia">Isolated hyperferritinemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/44256" ref="tree=MeSH" title="MedGen record for Malabsorption syndrome">Malabsorption syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/83322" ref="tree=MeSH" title="MedGen record for Autoimmune enteropathy">Autoimmune enteropathy</a></span><ul><li><span class="TLline"><a href="/medgen/1842843" ref="tree=MeSH" title="MedGen record for Primary autoimmune enteropathy">Primary autoimmune enteropathy</a></span></li><li><span class="TLline"><a href="/medgen/862670" ref="tree=MeSH" title="MedGen record for Severe combined immunodeficiency due to LCK deficiency">Severe combined immunodeficiency due to LCK deficiency</a></span></li><li><span class="TLline"><a href="/medgen/815662" ref="tree=MeSH" title="MedGen record for TCR-alpha-beta-positive T-cell deficiency">TCR-alpha-beta-positive T-cell deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/600" ref="tree=MeSH" title="MedGen record for Blind loop syndrome">Blind loop syndrome</a></span></li><li><span class="TLline"><a href="/medgen/3291" ref="tree=MeSH" title="MedGen record for Celiac disease">Celiac disease</a></span><ul><li><span class="TLline"><a href="/medgen/395227" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 1">Celiac disease, susceptibility to, 1</a></span></li><li><span class="TLline"><a href="/medgen/347564" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 2">Celiac disease, susceptibility to, 2</a></span></li><li><span class="TLline"><a href="/medgen/347563" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 3">Celiac disease, susceptibility to, 3</a></span></li><li><span class="TLline"><a href="/medgen/346679" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 4">Celiac disease, susceptibility to, 4</a></span></li><li><span class="TLline"><a href="/medgen/337622" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 5">Celiac disease, susceptibility to, 5</a></span></li><li><span class="TLline"><a href="/medgen/369397" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 6">Celiac disease, susceptibility to, 6</a></span></li><li><span class="TLline"><a href="/medgen/394328" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 7">Celiac disease, susceptibility to, 7</a></span></li><li><span class="TLline"><a href="/medgen/394327" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 8">Celiac disease, susceptibility to, 8</a></span></li><li><span class="TLline"><a href="/medgen/393783" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 9">Celiac disease, susceptibility to, 9</a></span></li><li><span class="TLline"><a href="/medgen/394326" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 10">Celiac disease, susceptibility to, 10</a></span></li><li><span class="TLline"><a href="/medgen/393782" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 11">Celiac disease, susceptibility to, 11</a></span></li><li><span class="TLline"><a href="/medgen/436989" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 12">Celiac disease, susceptibility to, 12</a></span></li><li><span class="TLline"><a href="/medgen/383149" ref="tree=MeSH" title="MedGen record for Celiac disease, susceptibility to, 13">Celiac disease, susceptibility to, 13</a></span></li><li><span class="TLline"><a href="/medgen/137953" ref="tree=MeSH" title="MedGen record for Collagenous sprue">Collagenous sprue</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5861" ref="tree=MeSH" title="MedGen record for Intestinal Disaccharidase Deficiency and Disaccharide Malabsorption">Intestinal Disaccharidase Deficiency and Disaccharide Malabsorption</a></span></li><li><span class="TLline"><a href="/medgen/19966" ref="tree=MeSH" title="MedGen record for Short bowel syndrome">Short bowel syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1842747" ref="tree=MeSH" title="MedGen record for Secondary short bowel syndrome">Secondary short bowel syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/20948" ref="tree=MeSH" title="MedGen record for Steatorrhea">Steatorrhea</a></span></li><li><span class="TLline"><a href="/medgen/21300" ref="tree=MeSH" title="MedGen record for Tropical sprue">Tropical sprue</a></span></li><li><span class="TLline"><a href="/medgen/7347" ref="tree=MeSH" title="MedGen record for Whipple disease">Whipple disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2699" ref="tree=MeSH" title="MedGen record for Metabolic bone disorder">Metabolic bone disorder</a></span><ul><li><span class="TLline"><a href="/medgen/116641" ref="tree=MeSH" title="MedGen record for Bone Demineralization, Pathologic">Bone Demineralization, Pathologic</a></span></li><li><span class="TLline"><a href="/medgen/10493" ref="tree=MeSH" title="MedGen record for Bone Paget disease">Bone Paget disease</a></span><ul><li><span class="TLline"><a href="/medgen/75678" ref="tree=MeSH" title="MedGen record for Hyperphosphatasemia with bone disease">Hyperphosphatasemia with bone disease</a></span></li><li><span class="TLline"><a href="/medgen/234363" ref="tree=MeSH" title="MedGen record for Sternal Paget Disease">Sternal Paget Disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/14533" ref="tree=MeSH" title="MedGen record for Osteomalacia">Osteomalacia</a></span><ul><li><span class="TLline"><a href="/medgen/226893" ref="tree=MeSH" title="MedGen record for Tumor-induced osteomalacia">Tumor-induced osteomalacia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/14535" ref="tree=MeSH" title="MedGen record for Osteoporosis">Osteoporosis</a></span><ul><li><span class="TLline"><a href="/medgen/1639139" ref="tree=MeSH" title="MedGen record for Generalized osteoporosis">Generalized osteoporosis</a></span></li><li><span class="TLline"><a href="/medgen/120494" ref="tree=MeSH" title="MedGen record for Idiopathic juvenile osteoporosis">Idiopathic juvenile osteoporosis</a></span></li><li><span class="TLline"><a href="/medgen/834018" ref="tree=MeSH" title="MedGen record for Localized osteoporosis">Localized osteoporosis</a></span></li><li><span class="TLline"><a href="/medgen/961032" ref="tree=MeSH" title="MedGen record for Nephrolithiasis/osteoporosis, hypophosphatemic">Nephrolithiasis/osteoporosis, hypophosphatemic</a></span></li><li><span class="TLline"><a href="/medgen/10498" ref="tree=MeSH" title="MedGen record for Postmenopausal osteoporosis">Postmenopausal osteoporosis</a></span></li><li><span class="TLline"><a href="/medgen/977013" ref="tree=MeSH" title="MedGen record for Pregnancy associated osteoporosis">Pregnancy associated osteoporosis</a></span></li><li><span class="TLline"><a href="/medgen/1674557" ref="tree=MeSH" title="MedGen record for X-linked osteoporosis with fractures">X-linked osteoporosis with fractures</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/19539" ref="tree=MeSH" title="MedGen record for Pseudogout">Pseudogout</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/647" ref="tree=MeSH" title="MedGen record for Metabolic encephalopathy">Metabolic encephalopathy</a></span><ul><li><span class="TLline"><a href="/medgen/44018" ref="tree=MeSH" title="MedGen record for Bilirubin encephalopathy">Bilirubin encephalopathy</a></span><ul><li><span class="TLline"><a href="/medgen/1808922" ref="tree=MeSH" title="MedGen record for Acute bilirubin encephalopathy">Acute bilirubin encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/1806573" ref="tree=MeSH" title="MedGen record for Chronic bilirubin encephalopathy">Chronic bilirubin encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/542597" ref="tree=MeSH" title="MedGen record for Kernicterus due to isoimmunization">Kernicterus due to isoimmunization</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/64511" ref="tree=MeSH" title="MedGen record for Central pontine myelinolysis">Central pontine myelinolysis</a></span></li><li><span class="TLline"><a href="/medgen/5513" ref="tree=MeSH" title="MedGen record for Hepatic encephalopathy">Hepatic encephalopathy</a></span><ul><li><span class="TLline"><a href="/medgen/870490" ref="tree=MeSH" title="MedGen record for Chronic hepatic encephalopathy">Chronic hepatic encephalopathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/65955" ref="tree=MeSH" title="MedGen record for Marchiafava-Bignami disease">Marchiafava-Bignami disease</a></span></li><li><span class="TLline"><a href="/medgen/57960" ref="tree=MeSH" title="MedGen record for Mitochondrial encephalomyopathy">Mitochondrial encephalomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/19772" ref="tree=MeSH" title="MedGen record for Reye syndrome">Reye syndrome</a></span></li><li><span class="TLline"><a href="/medgen/53073" ref="tree=MeSH" title="MedGen record for Wernicke encephalopathy">Wernicke encephalopathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/155901" ref="tree=MeSH" title="MedGen record for Mitochondrial disease">Mitochondrial disease</a></span><ul><li><span class="TLline"><a href="/medgen/137902" ref="tree=MeSH" title="MedGen record for Autosomal dominant optic atrophy classic form">Autosomal dominant optic atrophy classic form</a></span></li><li><span class="TLline"><a href="/medgen/199727" ref="tree=MeSH" title="MedGen record for Carbamoyl-phosphate synthetase 1 deficiency">Carbamoyl-phosphate synthetase 1 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/452448" ref="tree=MeSH" title="MedGen record for Complex V deficiency">Complex V deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/481329" ref="tree=MeSH" title="MedGen record for Mitochondrial complex V (ATP synthase) deficiency nuclear type 2">Mitochondrial complex V (ATP synthase) deficiency nuclear type 2</a></span></li><li><span class="TLline"><a href="/medgen/481338" ref="tree=MeSH" title="MedGen record for Mitochondrial complex V (ATP synthase) deficiency nuclear type 3">Mitochondrial complex V (ATP synthase) deficiency nuclear type 3</a></span></li><li><span class="TLline"><a href="/medgen/477906" ref="tree=MeSH" title="MedGen record for Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1">Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5276" ref="tree=MeSH" title="MedGen record for Friedreich ataxia">Friedreich ataxia</a></span><ul><li><span class="TLline"><a href="/medgen/383962" ref="tree=MeSH" title="MedGen record for Friedreich ataxia 1">Friedreich ataxia 1</a></span></li><li><span class="TLline"><a href="/medgen/356134" ref="tree=MeSH" title="MedGen record for Friedreich ataxia 2">Friedreich ataxia 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/56484" ref="tree=MeSH" title="MedGen record for Inborn mitochondrial myopathy">Inborn mitochondrial myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/107893" ref="tree=MeSH" title="MedGen record for 3-Methylglutaconic aciduria type 2">3-Methylglutaconic aciduria type 2</a></span></li><li><span class="TLline"><a href="/medgen/444140" ref="tree=MeSH" title="MedGen record for Adenosine monophosphate deaminase deficiency">Adenosine monophosphate deaminase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1393682" ref="tree=MeSH" title="MedGen record for Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy">Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy</a></span></li><li><span class="TLline"><a href="/medgen/863950" ref="tree=MeSH" title="MedGen record for Autosomal dominant mitochondrial myopathy with exercise intolerance">Autosomal dominant mitochondrial myopathy with exercise intolerance</a></span></li><li><span class="TLline"><a href="/medgen/416525" ref="tree=MeSH" title="MedGen record for Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome">Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome</a></span></li><li><span class="TLline"><a href="/medgen/9618" ref="tree=MeSH" title="MedGen record for Kearns-Sayre syndrome">Kearns-Sayre syndrome</a></span></li><li><span class="TLline"><a href="/medgen/374077" ref="tree=MeSH" title="MedGen record for Lethal infantile mitochondrial myopathy">Lethal infantile mitochondrial myopathy</a></span></li><li><span class="TLline"><a href="/medgen/1565381" ref="tree=MeSH" title="MedGen record for Maternally-inherited progressive external ophthalmoplegia">Maternally-inherited progressive external ophthalmoplegia</a></span></li><li><span class="TLline"><a href="/medgen/374101" ref="tree=MeSH" title="MedGen record for Mitochondrial complex I deficiency">Mitochondrial complex I deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1814582" ref="tree=MeSH" title="MedGen record for Mitochondrial complex II deficiency, nuclear type 1">Mitochondrial complex II deficiency, nuclear type 1</a></span></li><li><span class="TLline"><a href="/medgen/767513" ref="tree=MeSH" title="MedGen record for Mitochondrial DNA deletion syndrome with progressive myopathy">Mitochondrial DNA deletion syndrome with progressive myopathy</a></span></li><li><span class="TLline"><a href="/medgen/767376" ref="tree=MeSH" title="MedGen record for Mitochondrial DNA depletion syndrome 11">Mitochondrial DNA depletion syndrome 11</a></span></li><li><span class="TLline"><a href="/medgen/461100" ref="tree=MeSH" title="MedGen record for Mitochondrial DNA depletion syndrome, myopathic form">Mitochondrial DNA depletion syndrome, myopathic form</a></span></li><li><span class="TLline"><a href="/medgen/1620960" ref="tree=MeSH" title="MedGen record for Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome">Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/343245" ref="tree=MeSH" title="MedGen record for Mitochondrial myopathy-lactic acidosis-deafness syndrome">Mitochondrial myopathy-lactic acidosis-deafness syndrome</a></span></li><li><span class="TLline"><a href="/medgen/167876" ref="tree=MeSH" title="MedGen record for Mitochondrial neurogastrointestinal encephalomyopathy">Mitochondrial neurogastrointestinal encephalomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/373888" ref="tree=MeSH" title="MedGen record for Myopathy, lactic acidosis, and sideroblastic anemia">Myopathy, lactic acidosis, and sideroblastic anemia</a></span></li><li><span class="TLline"><a href="/medgen/102439" ref="tree=MeSH" title="MedGen record for Progressive external ophthalmoplegia">Progressive external ophthalmoplegia</a></span></li><li><span class="TLline"><a href="/medgen/934700" ref="tree=MeSH" title="MedGen record for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4">Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4</a></span></li><li><span class="TLline"><a href="/medgen/375302" ref="tree=MeSH" title="MedGen record for Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis">Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/182973" ref="tree=MeSH" title="MedGen record for Leber optic atrophy">Leber optic atrophy</a></span></li><li><span class="TLline"><a href="/medgen/419518" ref="tree=MeSH" title="MedGen record for Leigh syndrome">Leigh syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/387801" ref="tree=MeSH" title="MedGen record for Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type">Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type</a></span></li><li><span class="TLline"><a href="/medgen/481742" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndrome 16">Congenital myasthenic syndrome 16</a></span></li><li><span class="TLline"><a href="/medgen/432733" ref="tree=MeSH" title="MedGen record for Leigh Syndrome (nuclear DNA mutation)">Leigh Syndrome (nuclear DNA mutation)</a></span></li><li><span class="TLline"><a href="/medgen/333220" ref="tree=MeSH" title="MedGen record for Leigh syndrome due to mitochondrial complex I deficiency">Leigh syndrome due to mitochondrial complex I deficiency</a></span></li><li><span class="TLline"><a href="/medgen/342542" ref="tree=MeSH" title="MedGen record for Leigh syndrome due to mitochondrial complex II deficiency">Leigh syndrome due to mitochondrial complex II deficiency</a></span></li><li><span class="TLline"><a href="/medgen/376834" ref="tree=MeSH" title="MedGen record for Leigh syndrome due to mitochondrial complex III deficiency">Leigh syndrome due to mitochondrial complex III deficiency</a></span></li><li><span class="TLline"><a href="/medgen/376835" ref="tree=MeSH" title="MedGen record for Leigh syndrome due to mitochondrial complex V deficiency">Leigh syndrome due to mitochondrial complex V deficiency</a></span></li><li><span class="TLline"><a href="/medgen/797898" ref="tree=MeSH" title="MedGen record for Leigh syndrome with cardiomyopathy">Leigh syndrome with cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/798630" ref="tree=MeSH" title="MedGen record for Leigh syndrome with leukodystrophy">Leigh syndrome with leukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1678587" ref="tree=MeSH" title="MedGen record for Leigh syndrome with nephrotic syndrome">Leigh syndrome with nephrotic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/443976" ref="tree=MeSH" title="MedGen record for Maternally-inherited Leigh syndrome">Maternally-inherited Leigh syndrome</a></span></li><li><span class="TLline"><a href="/medgen/331718" ref="tree=MeSH" title="MedGen record for Necrotizing encephalomyelopathy, subacute, of Leigh, adult">Necrotizing encephalomyelopathy, subacute, of Leigh, adult</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/762097" ref="tree=MeSH" title="MedGen record for Mitochondrial complex III deficiency nuclear type 1">Mitochondrial complex III deficiency nuclear type 1</a></span></li><li><span class="TLline"><a href="/medgen/1750917" ref="tree=MeSH" title="MedGen record for Mitochondrial complex IV deficiency, nuclear type 1">Mitochondrial complex IV deficiency, nuclear type 1</a></span></li><li><span class="TLline"><a href="/medgen/433158" ref="tree=MeSH" title="MedGen record for Mitochondrial DNA Deletion Syndromes">Mitochondrial DNA Deletion Syndromes</a></span><ul><li><span class="TLline"><a href="/medgen/934657" ref="tree=MeSH" title="MedGen record for Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)">Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)</a></span></li><li><span class="TLline"><a href="/medgen/1637084" ref="tree=MeSH" title="MedGen record for Mitochondrial DNA depletion syndrome, encephalomyopathic form">Mitochondrial DNA depletion syndrome, encephalomyopathic form</a></span></li><li><span class="TLline"><a href="/medgen/87459" ref="tree=MeSH" title="MedGen record for Pearson syndrome">Pearson syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/381541" ref="tree=MeSH" title="MedGen record for Mitochondrial myopathy with a defect in mitochondrial-protein transport">Mitochondrial myopathy with a defect in mitochondrial-protein transport</a></span></li><li><span class="TLline"><a href="/medgen/463247" ref="tree=MeSH" title="MedGen record for Mitochondrial non-syndromic sensorineural hearing loss">Mitochondrial non-syndromic sensorineural hearing loss</a></span></li><li><span class="TLline"><a href="/medgen/231285" ref="tree=MeSH" title="MedGen record for NARP syndrome">NARP syndrome</a></span></li><li><span class="TLline"><a href="/medgen/374113" ref="tree=MeSH" title="MedGen record for Striatonigral degeneration, infantile, mitochondrial">Striatonigral degeneration, infantile, mitochondrial</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/853513" ref="tree=MeSH" title="MedGen record for Mitochondrial Enzyme Deficiency">Mitochondrial Enzyme Deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/462405" ref="tree=MeSH" title="MedGen record for Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency">Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/902729" ref="tree=MeSH" title="MedGen record for Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency">Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/474994" ref="tree=MeSH" title="MedGen record for Nickel Metabolic Disorder">Nickel Metabolic Disorder</a></span></li><li><span class="TLline"><a href="/medgen/811347" ref="tree=MeSH" title="MedGen record for Nutritional disorder">Nutritional disorder</a></span><ul><li><span class="TLline"><a href="/medgen/3368" ref="tree=MeSH" title="MedGen record for Child Nutrition Disorders">Child Nutrition Disorders</a></span></li><li><span class="TLline"><a href="/medgen/881480" ref="tree=MeSH" title="MedGen record for Disordered Eating">Disordered Eating</a></span></li><li><span class="TLline"><a href="/medgen/4434" ref="tree=MeSH" title="MedGen record for Eating disorder">Eating disorder</a></span><ul><li><span class="TLline"><a href="/medgen/315" ref="tree=MeSH" title="MedGen record for Anorexia">Anorexia</a></span></li><li><span class="TLline"><a href="/medgen/316" ref="tree=MeSH" title="MedGen record for Anorexia nervosa">Anorexia nervosa</a></span></li><li><span class="TLline"><a href="/medgen/154543" ref="tree=MeSH" title="MedGen record for Binge eating disorder">Binge eating disorder</a></span></li><li><span class="TLline"><a href="/medgen/389218" ref="tree=MeSH" title="MedGen record for Bulimia nervosa">Bulimia nervosa</a></span></li><li><span class="TLline"><a href="/medgen/853511" ref="tree=MeSH" title="MedGen record for Sleep-related eating disorder">Sleep-related eating disorder</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/9378" ref="tree=MeSH" title="MedGen record for Hypervitaminosis A">Hypervitaminosis A</a></span></li><li><span class="TLline"><a href="/medgen/9458" ref="tree=MeSH" title="MedGen record for Infant Nutrition Disorders">Infant Nutrition Disorders</a></span><ul><li><span class="TLline"><a href="/medgen/439355" ref="tree=MeSH" title="MedGen record for Vitamin K Deficiency Bleeding">Vitamin K Deficiency Bleeding</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1675459" ref="tree=MeSH" title="MedGen record for Iodine deficiency">Iodine deficiency</a></span></li><li><span class="TLline"><a href="/medgen/56429" ref="tree=MeSH" title="MedGen record for Malnutrition">Malnutrition</a></span><ul><li><span class="TLline"><a href="/medgen/4169" ref="tree=MeSH" title="MedGen record for Deficiency Disease">Deficiency Disease</a></span></li><li><span class="TLline"><a href="/medgen/266200" ref="tree=MeSH" title="MedGen record for Disorder of fetal nutrition">Disorder of fetal nutrition</a></span></li><li><span class="TLline"><a href="/medgen/19521" ref="tree=MeSH" title="MedGen record for Protein-energy malnutrition">Protein-energy malnutrition</a></span></li><li><span class="TLline"><a href="/medgen/167819" ref="tree=MeSH" title="MedGen record for Refeeding syndrome">Refeeding syndrome</a></span></li><li><span class="TLline"><a href="/medgen/875809" ref="tree=MeSH" title="MedGen record for Severe Acute Malnutrition">Severe Acute Malnutrition</a></span></li><li><span class="TLline"><a href="/medgen/20944" ref="tree=MeSH" title="MedGen record for Starvation">Starvation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1677627" ref="tree=MeSH" title="MedGen record for Nutritional deficiency disease">Nutritional deficiency disease</a></span></li><li><span class="TLline"><a href="/medgen/219760" ref="tree=MeSH" title="MedGen record for Overnutrition">Overnutrition</a></span><ul><li><span class="TLline"><a href="/medgen/105424" ref="tree=MeSH" title="MedGen record for Overweight">Overweight</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/271346" ref="tree=MeSH" title="MedGen record for Potassium deficiency disease">Potassium deficiency disease</a></span></li><li><span class="TLline"><a href="/medgen/267607" ref="tree=MeSH" title="MedGen record for Vitamin deficiency disorder">Vitamin deficiency disorder</a></span><ul><li><span class="TLline"><a href="/medgen/12114" ref="tree=MeSH" title="MedGen record for Decreased circulating vitamin D concentration">Decreased circulating vitamin D concentration</a></span></li><li><span class="TLline"><a href="/medgen/20684" ref="tree=MeSH" title="MedGen record for Scurvy">Scurvy</a></span></li><li><span class="TLline"><a href="/medgen/22668" ref="tree=MeSH" title="MedGen record for Vitamin A deficiency">Vitamin A deficiency</a></span></li><li><span class="TLline"><a href="/medgen/22669" ref="tree=MeSH" title="MedGen record for Vitamin B deficiency">Vitamin B deficiency</a></span></li><li><span class="TLline"><a href="/medgen/22672" ref="tree=MeSH" title="MedGen record for Vitamin K deficiency">Vitamin K deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/22696" ref="tree=MeSH" title="MedGen record for Wasting disease">Wasting disease</a></span><ul><li><span class="TLline"><a href="/medgen/87476" ref="tree=MeSH" title="MedGen record for HIV wasting syndrome">HIV wasting syndrome</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/19276" ref="tree=MeSH" title="MedGen record for Phosphorus metabolism disease">Phosphorus metabolism disease</a></span></li><li><span class="TLline"><a href="/medgen/78565" ref="tree=MeSH" title="MedGen record for polysyndactyly">polysyndactyly</a></span></li><li><span class="TLline"><a href="/medgen/10865" ref="tree=MeSH" title="MedGen record for Porphyrin metabolism disease">Porphyrin metabolism disease</a></span><ul><li><span class="TLline"><a href="/medgen/56452" ref="tree=MeSH" title="MedGen record for Acute intermittent porphyria">Acute intermittent porphyria</a></span></li><li><span class="TLline"><a href="/medgen/102408" ref="tree=MeSH" title="MedGen record for Erythropoietic porphyria">Erythropoietic porphyria</a></span></li><li><span class="TLline"><a href="/medgen/56455" ref="tree=MeSH" title="MedGen record for Erythropoietic protoporphyria">Erythropoietic protoporphyria</a></span></li><li><span class="TLline"><a href="/medgen/58119" ref="tree=MeSH" title="MedGen record for Hepatic porphyria">Hepatic porphyria</a></span><ul><li><span class="TLline"><a href="/medgen/57940" ref="tree=MeSH" title="MedGen record for Hepatoerythropoietic porphyria">Hepatoerythropoietic porphyria</a></span></li><li><span class="TLline"><a href="/medgen/57931" ref="tree=MeSH" title="MedGen record for Hereditary coproporphyria">Hereditary coproporphyria</a></span></li><li><span class="TLline"><a href="/medgen/78659" ref="tree=MeSH" title="MedGen record for Porphobilinogen synthase deficiency">Porphobilinogen synthase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/56453" ref="tree=MeSH" title="MedGen record for Porphyria cutanea tarda">Porphyria cutanea tarda</a></span></li><li><span class="TLline"><a href="/medgen/58118" ref="tree=MeSH" title="MedGen record for Variegate porphyria">Variegate porphyria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/394385" ref="tree=MeSH" title="MedGen record for X-linked erythropoietic protoporphyria">X-linked erythropoietic protoporphyria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/403490" ref="tree=MeSH" title="MedGen record for Proteostasis deficiencies">Proteostasis deficiencies</a></span><ul><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></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></li><li><span class="TLline"><a href="/medgen/38998" ref="tree=MeSH" title="MedGen record for Cerebral amyloid angiopathy">Cerebral amyloid angiopathy</a></span></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></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/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/107462" ref="tree=MeSH" title="MedGen record for Primary localized amyloidosis">Primary localized amyloidosis</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/1682194" ref="tree=MeSH" title="MedGen record for Synucleinopathy">Synucleinopathy</a></span><ul><li><span class="TLline"><a href="/medgen/199874" ref="tree=MeSH" title="MedGen record for Lewy body dementia">Lewy body dementia</a></span></li><li><span class="TLline"><a href="/medgen/98276" ref="tree=MeSH" title="MedGen record for Multiple system atrophy">Multiple system atrophy</a></span></li><li><span class="TLline"><a href="/medgen/10590" ref="tree=MeSH" title="MedGen record for Parkinson disease">Parkinson disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/439336" ref="tree=MeSH" title="MedGen record for TDP-43 proteinopathy">TDP-43 proteinopathy</a></span><ul><li><span class="TLline"><a href="/medgen/274" ref="tree=MeSH" title="MedGen record for Amyotrophic lateral sclerosis">Amyotrophic lateral sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/148228" ref="tree=MeSH" title="MedGen record for Degenerations, Frontotemporal Lobar">Degenerations, Frontotemporal Lobar</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/19992" ref="tree=MeSH" title="MedGen record for Skin Diseases, Metabolic">Skin Diseases, Metabolic</a></span><ul><li><span class="TLline"><a href="/medgen/45021" ref="tree=MeSH" title="MedGen record for Necrobiosis lipoidica">Necrobiosis lipoidica</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/472966" ref="tree=MeSH" title="MedGen record for Zinc deficiency">Zinc deficiency</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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|
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<div class="portlet mgSection" id="ID_105">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34708622">Diabetes mellitus: an overview of the types, symptoms, complications and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cloete L</span><br />
|
||
<span class="medgenPMjournal">Nurs Stand</span>
|
||
2022 Jan 5;37(1):61-66.
|
||
Epub 2021 Oct 28
|
||
doi: 10.7748/ns.2021.e11709.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34708622" target="_blank">34708622</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32286648">Diagnosis and Management of Obstructive Sleep Apnea: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gottlieb DJ,
|
||
Punjabi NM</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2020 Apr 14;323(14):1389-1400.
|
||
doi: 10.1001/jama.2020.3514.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32286648" target="_blank">32286648</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31259490">Amenorrhea: A Systematic Approach to Diagnosis and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klein DA,
|
||
Paradise SL,
|
||
Reeder RM</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2019 Jul 1;100(1):39-48.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31259490" target="_blank">31259490</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22metabolic%20disease%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 (516)</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/36145184">The Burden of Carbohydrates in Health and Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clemente-Suárez VJ,
|
||
Mielgo-Ayuso J,
|
||
Martín-Rodríguez A,
|
||
Ramos-Campo DJ,
|
||
Redondo-Flórez L,
|
||
Tornero-Aguilera JF</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2022 Sep 15;14(18)
|
||
doi: 10.3390/nu14183809.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36145184" target="_blank">36145184</a><a href="/pmc/articles/PMC9505863" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32529412">Exercise and metabolic health: beyond skeletal muscle.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thyfault JP,
|
||
Bergouignan A</span><br />
|
||
<span class="medgenPMjournal">Diabetologia</span>
|
||
2020 Aug;63(8):1464-1474.
|
||
Epub 2020 Jun 11
|
||
doi: 10.1007/s00125-020-05177-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32529412" target="_blank">32529412</a><a href="/pmc/articles/PMC7377236" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32072466">Obesity and Weight Gain in Persons with HIV.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bailin SS,
|
||
Gabriel CL,
|
||
Wanjalla CN,
|
||
Koethe JR</span><br />
|
||
<span class="medgenPMjournal">Curr HIV/AIDS Rep</span>
|
||
2020 Apr;17(2):138-150.
|
||
doi: 10.1007/s11904-020-00483-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32072466" target="_blank">32072466</a><a href="/pmc/articles/PMC7719267" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30315490">Risk Factors and Implications of Childhood Obesity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weihrauch-Blüher S,
|
||
Wiegand S</span><br />
|
||
<span class="medgenPMjournal">Curr Obes Rep</span>
|
||
2018 Dec;7(4):254-259.
|
||
doi: 10.1007/s13679-018-0320-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30315490" target="_blank">30315490</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20598363">Pre-eclampsia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steegers EA,
|
||
von Dadelszen P,
|
||
Duvekot JJ,
|
||
Pijnenborg R</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2010 Aug 21;376(9741):631-44.
|
||
Epub 2010 Jul 2
|
||
doi: 10.1016/S0140-6736(10)60279-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20598363" target="_blank">20598363</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metabolic%20disease%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 (5405)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34708622">Diabetes mellitus: an overview of the types, symptoms, complications and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cloete L</span><br />
|
||
<span class="medgenPMjournal">Nurs Stand</span>
|
||
2022 Jan 5;37(1):61-66.
|
||
Epub 2021 Oct 28
|
||
doi: 10.7748/ns.2021.e11709.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34708622" target="_blank">34708622</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32700775">Female pattern hair loss: A comprehensive review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bertoli MJ,
|
||
Sadoughifar R,
|
||
Schwartz RA,
|
||
Lotti TM,
|
||
Janniger CK</span><br />
|
||
<span class="medgenPMjournal">Dermatol Ther</span>
|
||
2020 Nov;33(6):e14055.
|
||
Epub 2020 Aug 31
|
||
doi: 10.1111/dth.14055.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32700775" target="_blank">32700775</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32529412">Exercise and metabolic health: beyond skeletal muscle.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thyfault JP,
|
||
Bergouignan A</span><br />
|
||
<span class="medgenPMjournal">Diabetologia</span>
|
||
2020 Aug;63(8):1464-1474.
|
||
Epub 2020 Jun 11
|
||
doi: 10.1007/s00125-020-05177-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32529412" target="_blank">32529412</a><a href="/pmc/articles/PMC7377236" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23772060">A guide to diagnosis and treatment of Leigh syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baertling F,
|
||
Rodenburg RJ,
|
||
Schaper J,
|
||
Smeitink JA,
|
||
Koopman WJ,
|
||
Mayatepek E,
|
||
Morava E,
|
||
Distelmaier F</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2014 Mar;85(3):257-65.
|
||
Epub 2013 Jun 14
|
||
doi: 10.1136/jnnp-2012-304426.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23772060" target="_blank">23772060</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20598363">Pre-eclampsia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steegers EA,
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<div class="nl"><a target="_blank" href="/pubmed/37111100">Prebiotic and Probiotic Modulation of the Microbiota-Gut-Brain Axis in Depression.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Radford-Smith DE,
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<div class="nl"><a target="_blank" href="/pubmed/36639249">Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Frias JP,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metabolic%20disease%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 (2137)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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Adeyi O,
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<div class="nl"><a target="_blank" href="/pubmed/23772060">A guide to diagnosis and treatment of Leigh syndrome.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metabolic%20disease%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 (3128)</a></div></div>
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|
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|
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhao X,
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An X,
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Yang C,
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Sun W,
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Ji H,
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Lian F</span><br />
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doi: 10.3389/fendo.2023.1149239.
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<span class="bold">PMID: </span><a href="/pubmed/37056675" target="_blank">37056675</a><a href="/pmc/articles/PMC10086443" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/35945698">Clinical Practice Guideline—Acute and Chronic Pancreatitis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Beyer G,
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Hoffmeister A,
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Lorenz P,
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Lynen P,
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Lerch MM,
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Mayerle J</span><br />
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<span class="medgenPMjournal">Dtsch Arztebl Int</span>
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doi: 10.3238/arztebl.m2022.0223.
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<span class="bold">PMID: </span><a href="/pubmed/35945698" target="_blank">35945698</a><a href="/pmc/articles/PMC9669327" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/33839790">Clinical Practice Guidelines on the Diagnosis and Management of Polycystic Ovary Syndrome: A Systematic Review and Quality Assessment Study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Al Wattar BH,
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Fisher M,
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Bevington L,
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Talaulikar V,
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Davies M,
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Conway G,
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Yasmin E</span><br />
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|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/33313987">Impact of age at type 2 diabetes mellitus diagnosis on mortality and vascular complications: systematic review and meta-analyses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nanayakkara N,
|
||
Curtis AJ,
|
||
Heritier S,
|
||
Gadowski AM,
|
||
Pavkov ME,
|
||
Kenealy T,
|
||
Owens DR,
|
||
Thomas RL,
|
||
Song S,
|
||
Wong J,
|
||
Chan JC,
|
||
Luk AO,
|
||
Penno G,
|
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Ji L,
|
||
Mohan V,
|
||
Amutha A,
|
||
Romero-Aroca P,
|
||
Gasevic D,
|
||
Magliano DJ,
|
||
Teede HJ,
|
||
Chalmers J,
|
||
Zoungas S</span><br />
|
||
<span class="medgenPMjournal">Diabetologia</span>
|
||
2021 Feb;64(2):275-287.
|
||
Epub 2020 Dec 14
|
||
doi: 10.1007/s00125-020-05319-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33313987" target="_blank">33313987</a><a href="/pmc/articles/PMC7801294" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/32244180">Metabolic dysfunction in polycystic ovary syndrome: Pathogenic role of androgen excess and potential therapeutic strategies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sanchez-Garrido MA,
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|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metabolic%20disease%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (239)</a></div></div>
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<li><a href="/gtr/tests?term=C0025517%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0025517%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0025517%5bDISCUI%5d" target="_blank">See all (7)</a></total></li>
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