MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
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Genetic Diseases, Inborn (D030342)
Parent Node:
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Metabolic Diseases (D008659)
..Starting node
..expand
Metabolism, Inborn Errors (D008661)

       Child Nodes:
........expand3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)  LSDB  L: 00105;
........expand3-Hydroxyacyl-CoA Dehydrogenase Deficiency (C535310)  LSDB  L: 00467;
........expand3-Methylglutaconic Aciduria (C579867)
........expand3-Methylglutaconic Aciduria Type IV (C565393)
........expand3-Methylglutaconic Aciduria, Type I (C562801)  LSDB  L: 00495;
........expand3-Methylglutaconic Aciduria, Type V (C565706)  LSDB  L: 00079;
........expand5-Nucleotidase syndrome (C535321)
........expand6-Phosphogluconolactonase Deficiency (C566803)
........expandAcetylcarnitine deficiency (C536006)
........expandAcholinesterasemia (C566750)
........expandAcid Phosphatase Deficiency (C562645)
........expandAdenine phosphoribosyltransferase deficiency (C538228)
........expandAICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY (OMIM:608688)
........expandalpha-Fetoprotein Deficiency (C566300)
........expandAmino Acid Metabolism, Inborn Errors (D000592) Child169  LSDB C:10
........expandAmino Acid Transport Disorders, Inborn (D020157) Child3
........expandAmobarbital, Deficient N-Hydroxylation of (C565959)
........expandAmyloidosis, Familial (D028226) Child13
........expandArene Oxide Detoxification Defect (C565043)
........expandAromatase deficiency (C537436)
........expandAryl Hydrocarbon Hydroxylase Inducibility (C566250)
........expandBISPHOSPHOGLYCERATE MUTASE DEFICIENCY (OMIM:222800)
........expandBrain Diseases, Metabolic, Inborn (D020739) Child218  LSDB C:20
........expandButyrylcholinesterase deficiency (C537417)
........expandButyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type (C566751)
........expandCarbohydrate Metabolism, Inborn Errors (D002239) Child169  LSDB C:9
........expandCarnitine Acetyltransferase Deficiency (C563249)
........expandCarnitine palmitoyl transferase 2 deficiency (C535589)
........expandChromate Resistance (C566125)
........expandCOENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)  LSDB  L: 00090;
........expandCombined Malonic and Methylmalonic Aciduria (C580002)
........expandCombined Oxidative Phosphorylation Deficiency 1 (C563797)  LSDB  L: 00092;
........expandCombined Oxidative Phosphorylation Deficiency 4 (C565690)  LSDB  L: 00098;
........expandCombined Oxidative Phosphorylation Deficiency 5 (C567126)  LSDB  L: 00099;
........expandCongenital chloride diarrhea (C536210)
........expandCopper deficiency, familial benign (C535468)
........expandCosteff optic atrophy syndrome (C535311)  LSDB  L: 00496;
........expandCoumarin Resistance (C563039)
........expandCoumarin Sensitivity (C567276)
........expandCREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
........expandCytochrome-c Oxidase Deficiency (D030401) Child2  LSDB C:2 L: 00012;
........expandDeafness hyperuricemia neurologic ataxia (C535995)
........expandDeoxyribose-5-Phosphate Aldolase Deficiency (C565112)
........expandDiarrhea 3, Secretory Sodium, Congenital (C562576)
........expandDiarrhea 3, Secretory Sodium, Congenital, Syndromic (C567490)
........expandDiarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099)
........expandDihydropyrimidinase Deficiency (C562815)
........expandDiphenylhydantoin, Defect in Hydroxylation of (C565044)
........expandDrug Metabolism, Poor, CYP2C19-Related (C563703)
........expandDrug Metabolism, Poor, CYP2D6-Related (C563835)  LSDB  L: 00651;
........expandDystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
........expandEnterokinase Deficiency (C562649)
........expandEthanolaminosis (C562651)
........expandFamilial gynecomastia, due to increased aromatase activity (C000591739)
........expandFinnish lethal neonatal metabolic syndrome (C537934)  LSDB  L: 00104;
........expandFumaric aciduria (C538191)
........expandGlucocorticoid Receptor Deficiency (C564221)
........expandGlutamate formiminotransferase deficiency (C537425)
........expandGlycoprotein Storage Disease (C565538)
........expandGlyoxalase II Deficiency (C564215)
........expandGrowth Factors, Combined Defect of (C565529)
........expandHEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
........expandHEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
........expandHyaluronan Metabolism, Defect in (C565742)
........expandHyperbilirubinemia, Hereditary (D006933) Child7
........expandHypercalcemia, Idiopathic, of Infancy (C562581)
........expandHYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)
........expandHypoadiponectinemia (C567258)
........expandHypokalemia, Familial (C562654)
........expandHypoproteinemia, Hypercatabolic (C565476)
........expandInosine Triphosphatase Deficiency (C564127)
........expandIntrinsic Factor and R Binder, Combined Congenital Deficiency of (C565461)
........expandKallikrein, Decreased Urinary Activity of (C563653)
........expandL-Gulonolactone Oxidase, Nonfunctional (C565486)
........expandLactate Dehydrogenase B Deficiency (C563641)
........expandLactic Aciduria due to D-Lactic Acid (C565446)
........expandLeukotriene C4 Synthase Deficiency (C565439)
........expandLipid Metabolism, Inborn Errors (D008052) Child135  LSDB C:9
........expandLONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016)  LSDB  L: 00474;
........expandLysosomal Storage Diseases (D016464) Child106
........expandMalonic aciduria (C535702)
........expandMannose 6-Phosphate Receptor Recognition Defect, Lebanese Type (C563601)
........expandMannose-Binding Protein Deficiency (C563602)
........expandMedium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
........expandMetal Metabolism, Inborn Errors (D008664) Child55
........expandMethemoglobin Reductase Deficiency (C563171)
........expandMethylcobalamin Deficiency, CblG Type (C565394)
........expandMethylmalonyl-Coenzyme A mutase deficiency (C537573)
........expandMitochondrial Complex II Deficiency (C565375)  LSDB  L: 00016;
........expandMitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
........expandMyeloperoxidase Deficiency (C562864)
........expandN acetyltransferase deficiency (C536107)
........expandPancreatic Insufficiency, Combined Exocrine (C564907)
........expandPeroxisomal Disorders (D018901) Child39
........expandPhenacetin O-Deethylase, Deficiency of (C565127)
........expandPhenol sulfotransferase deficiency (C537895)
........expandPhosphoglycerate Kinase 1 Deficiency (C567067)
........expandPorphyrias (D011164) Child18
........expandProgeria (D011371) Child11
........expandProguanil, Poor Metabolism of (C563704)
........expandPurine-Pyrimidine Metabolism, Inborn Errors (D011686) Child24
........expandRenal Tubular Transport, Inborn Errors (D015499) Child76  LSDB C:2
........expandRetinol-Binding Protein Deficiency (C566711)
........expandSteroid Metabolism, Inborn Errors (D043202) Child34
........expandStomatocytosis I (C566111)
........expandStomatocytosis II (C566110)
........expandSuccinic Acidemia (C563952)
........expandTHYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
........expandTranscobalamin I Deficiency (C562798)
........expandTrimethylaminuria (C536561)
........expandWarfarin Sensitivity (C567080)
........expandWeinstein Kliman Scully syndrome (C536688)
........expandWiedemann Oldigs Oppermann syndrome (C536705)
........expandXanthinuria, Type I (C562584)



 Sister Nodes: 
..expandAcid-Base Imbalance (D000137) Child42  LSDB C:10
..expandADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 (OMIM:606770)
..expandADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 (OMIM:606771)
..expandBrain Diseases, Metabolic (D001928) Child244  LSDB C:29
..expandCalcium Metabolism Disorders (D002128) Child94
..expandDNA Repair-Deficiency Disorders (D049914) Child95  LSDB C:1
..expandGlucose Metabolism Disorders (D044882) Child137  LSDB C:6
..expandHyperlactatemia (D065906)
..expandHypermanganesemia with Dystonia Polycythemia and Cirrhosis (C548016)
..expandIron Metabolism Disorders (D019189) Child23  LSDB C:1
..expandLipid Metabolism Disorders (D052439) Child189  LSDB C:9
..expandMalabsorption Syndromes (D008286) Child29
..expandMetabolic Syndrome X (D024821) Child1
..expandMetabolism, Inborn Errors (D008661) Child886  LSDB C:47
..expandMitochondrial Diseases (D028361) Child114  LSDB C:68
..expandPhosphorus Metabolism Disorders (D010760) Child25
..expandPorphyrias (D011164) Child18
..expandProteostasis Deficiencies (D057165) Child55
..expandSHORT syndrome (C537327)
..expandSkin Diseases, Metabolic (D012875) Child33
..expandWasting Syndrome (D019282) Child1
..expandWater-Electrolyte Imbalance (D014883) Child31
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7111
Name:Metabolism, Inborn Errors
Definition:Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
Alternative IDs:
ParentIDs:MESH:D008659|MESH:D030342
TreeNumbers:C16.320.565 |C18.452.648
Synonyms:Error, Inborn Metabolism |Errors, Inborn Metabolism |Errors Metabolism, Inborn |Errors Metabolisms, Inborn |Inborn Errors Metabolism |Inborn Errors Metabolisms |Inborn Errors of Metabolism |Inborn Metabolism Error |Inborn Metabolism Errors |Metabolism Error, Inbo
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: D008661
MeSH: D008661
OMIM:
MSeqDR LSDB:
MSeqDR has 47 matches in descendants: 00012; 00015; 00016; 00034; 00039; 00046; 00079; 00085; 00088; 00089; 00090; 00092; 00098; 00099; 00101; 00104; 00105; 00106; 00107; 00163; 00389; 00390; 00398; 00399; 00402; 00405; 00416; 00417; 00419; 00421; 00433; 00434; 00435; 00436; 00437; 00439; 00440; 00442; 00444; 00466; 00467; 00472; 00474; 00475; 00478; 00482; 00486;  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal