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Disease Metabolism, Inborn Errors

Name Metabolism, Inborn Errors
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, Inborn | Metabolism Errors, Inborn | Metabolism Inborn Error | Metabolism Inborn Errors | Metabolisms, Inborn Errors
Definition Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
Categories Genetic disease (inborn) | Metabolic disease
MeSH® ID D008661
External Links
DO
DOID:655

Top ↑ Ancestors

1. Diseases ← Congenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references ← Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references ← Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references
2. Diseases ← Nutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references ← Metabolic Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references ← Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references

Top ↑ Descendants

Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references
  3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency Has associated chemicals Has associated genes Has associated phenotype references
  3-Hydroxyacyl-CoA Dehydrogenase Deficiency Has associated chemicals Has associated genes Has associated phenotype references
View node 3-Methylglutaconic Aciduria Has associated chemicals Has associated genes Has associated phenotype references
  3-Methylglutaconic Aciduria, Type I Has associated chemicals Has associated genes Has associated phenotype references
  3-Methylglutaconic Aciduria Type IV
  3-Methylglutaconic Aciduria, Type V Has associated chemicals Has associated genes Has associated phenotype references
  5-Nucleotidase syndrome
  6-Phosphogluconolactonase Deficiency
  Acetylcarnitine deficiency
  Acholinesterasemia
  Acid Phosphatase Deficiency Has associated chemicals Has associated genes Has associated phenotype references
  Adenine phosphoribosyltransferase deficiency Has associated chemicals Has associated genes Has associated phenotype references
  alpha-Fetoprotein Deficiency Has associated chemicals Has associated genes Has associated phenotype references
View node Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references
View node Amino Acid Transport Disorders, Inborn Has associated chemicals Has associated genes Has associated phenotype references
  Amobarbital, Deficient N-Hydroxylation of
View node Amyloidosis, Familial Has associated chemicals Has associated genes Has associated phenotype references
  Arene Oxide Detoxification Defect
  Aromatase deficiency Has associated chemicals Has associated genes Has associated phenotype references
  Aryl Hydrocarbon Hydroxylase Inducibility
View node Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Has associated phenotype references
  Butyrylcholinesterase deficiency Has associated chemicals Has associated genes Has associated phenotype references
  Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type
View node Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated phenotype references
  CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO Has associated chemicals Has associated genes Has associated phenotype references
  Carnitine Acetyltransferase Deficiency
  Carnitine palmitoyl transferase 2 deficiency
  Chromate Resistance
  Combined Malonic and Methylmalonic Aciduria Has associated chemicals Has associated genes Has associated phenotype references
  Combined Oxidative Phosphorylation Deficiency 1 Has associated chemicals Has associated genes Has associated phenotype references
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 Has associated chemicals Has associated genes Has associated phenotype references
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 Has associated chemicals Has associated genes Has associated phenotype references
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 Has associated chemicals Has associated genes Has associated phenotype references
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 Has associated chemicals Has associated genes Has associated phenotype references
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 Has associated chemicals Has associated genes Has associated phenotype references
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 Has associated chemicals Has associated genes Has associated phenotype references
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 Has associated chemicals Has associated genes Has associated phenotype references
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 Has associated chemicals Has associated genes Has associated phenotype references
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 Has associated chemicals Has associated genes Has associated phenotype references
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 Has associated chemicals Has associated genes Has associated phenotype references
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 Has associated chemicals Has associated genes Has associated phenotype references
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 Has associated chemicals Has associated genes Has associated phenotype references
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 Has associated chemicals Has associated genes Has associated phenotype references
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 Has associated chemicals Has associated genes Has associated phenotype references
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 Has associated chemicals Has associated genes Has associated phenotype references
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 Has associated chemicals Has associated genes Has associated phenotype references
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 Has associated chemicals Has associated genes Has associated phenotype references
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 Has associated chemicals Has associated genes Has associated phenotype references
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 Has associated chemicals Has associated genes Has associated phenotype references
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 Has associated chemicals Has associated genes Has associated phenotype references
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 Has associated chemicals Has associated genes Has associated phenotype references
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 Has associated chemicals Has associated genes Has associated phenotype references
  Combined Oxidative Phosphorylation Deficiency 4 Has associated chemicals Has associated genes Has associated phenotype references
  Combined Oxidative Phosphorylation Deficiency 5 Has associated chemicals Has associated genes Has associated phenotype references
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 Has associated chemicals Has associated genes Has associated phenotype references
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 Has associated chemicals Has associated genes Has associated phenotype references
  Congenital chloride diarrhea Has associated chemicals Has associated genes Has associated phenotype references
  Copper deficiency, familial benign
  Costeff optic atrophy syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Coumarin Resistance Has associated chemicals Has associated genes Has associated phenotype references
  Coumarin Sensitivity
  CREATINE PHOSPHOKINASE, ELEVATED SERUM Has associated chemicals Has associated genes Has associated phenotype references
View node Cytochrome-c Oxidase Deficiency Has associated chemicals Has associated genes Has associated phenotype references
  Deafness hyperuricemia neurologic ataxia
  Deoxyribose-5-Phosphate Aldolase Deficiency
  Diarrhea 3, Secretory Sodium, Congenital Has associated chemicals Has associated genes Has associated phenotype references
  Diarrhea 3, Secretory Sodium, Congenital, Syndromic
  Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency
  Dihydropyrimidinase Deficiency Has associated chemicals Has associated genes Has associated phenotype references
  Diphenylhydantoin, Defect in Hydroxylation of
  Drug Metabolism, Poor, CYP2C19-Related Has associated chemicals Has associated genes Has associated phenotype references
  Drug Metabolism, Poor, CYP2D6-Related Has associated chemicals Has associated genes Has associated phenotype references
  Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Has associated chemicals Has associated genes Has associated phenotype references
  EFAVIRENZ, POOR METABOLISM OF Has associated chemicals Has associated genes Has associated phenotype references
  Enterokinase Deficiency Has associated chemicals Has associated genes Has associated phenotype references
  ERYTHROCYTOSIS, FAMILIAL, 8 Has associated chemicals Has associated genes Has associated phenotype references
  Ethanolaminosis
  Familial gynecomastia, due to increased aromatase activity
  Finnish lethal neonatal metabolic syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Fumaric aciduria Has associated chemicals Has associated genes Has associated phenotype references
  Glucocorticoid Receptor Deficiency Has associated chemicals Has associated genes Has associated phenotype references
  Glutamate formiminotransferase deficiency Has associated chemicals Has associated genes Has associated phenotype references
  Glycoprotein Storage Disease
  Glyoxalase II Deficiency
  Growth Factors, Combined Defect of
  HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Has associated chemicals Has associated genes Has associated phenotype references
  HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Has associated chemicals Has associated genes Has associated phenotype references
  Hyaluronan Metabolism, Defect in
View node Hyperbilirubinemia, Hereditary Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references
  Hypercalcemia, Idiopathic, of Infancy Has associated chemicals Has associated genes Has associated phenotype references
  HYPERCHLORHIDROSIS, ISOLATED Has associated chemicals Has associated genes Has associated phenotype references
  Hypoadiponectinemia Has associated chemicals Has associated genes Has associated phenotype references
  Hypokalemia, Familial
  Hypoproteinemia, Hypercatabolic Has associated chemicals Has associated genes Has associated phenotype references
  Inosine Triphosphatase Deficiency Has associated chemicals Has associated genes Has associated phenotype references
  Intrinsic Factor and R Binder, Combined Congenital Deficiency of
  Kallikrein, Decreased Urinary Activity of Has associated chemicals Has associated genes Has associated phenotype references
  Lactate Dehydrogenase B Deficiency Has associated chemicals Has associated genes Has associated phenotype references
  Lactic Aciduria due to D-Lactic Acid
  LEPTIN DEFICIENCY OR DYSFUNCTION Has associated chemicals Has associated genes Has associated phenotype references
  LEPTIN RECEPTOR DEFICIENCY Has associated chemicals Has associated genes Has associated phenotype references
  Leukotriene C4 Synthase Deficiency Has associated chemicals Has associated genes Has associated phenotype references
  L-Gulonolactone Oxidase, Nonfunctional
View node Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated phenotype references
  LIPOYLTRANSFERASE 1 DEFICIENCY Has associated chemicals Has associated genes Has associated phenotype references
  LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY Has associated chemicals Has associated genes Has associated phenotype references
View node Lysosomal Storage Diseases Has associated chemicals Has associated genes Has associated phenotype references
  Malonic aciduria Has associated chemicals Has associated genes Has associated phenotype references
  Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type
  Mannose-Binding Protein Deficiency Has associated chemicals Has associated genes Has associated phenotype references
  Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency
View node Metal Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated phenotype references
  Methemoglobin Reductase Deficiency
  Methylcobalamin Deficiency, CblG Type Has associated chemicals Has associated genes Has associated phenotype references
  Methylmalonyl-Coenzyme A mutase deficiency
  Mitochondrial Complex II Deficiency Has associated chemicals Has associated genes Has associated phenotype references
View node Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive Has associated chemicals Has associated genes Has associated phenotype references
  MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY Has associated chemicals Has associated genes Has associated phenotype references
  Myeloperoxidase Deficiency Has associated chemicals Has associated genes Has associated phenotype references
View node N acetyltransferase deficiency Has associated chemicals Has associated genes Has associated phenotype references
  Pancreatic Insufficiency, Combined Exocrine
View node Peroxisomal Disorders Has associated chemicals Has associated genes Has associated phenotype references
  Phenacetin O-Deethylase, Deficiency of
  Phenol sulfotransferase deficiency
  Phosphoglycerate Kinase 1 Deficiency Has associated chemicals Has associated genes Has associated phenotype references
View node Progeria Has associated chemicals Has associated genes Has associated phenotype references
  Proguanil, Poor Metabolism of
View node Purine-Pyrimidine Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated phenotype references
View node Renal Tubular Transport, Inborn Errors Has associated chemicals Has associated genes Has associated phenotype references
  Retinol-Binding Protein Deficiency
View node Steroid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated phenotype references
  Stomatocytosis I Has associated chemicals Has associated genes Has associated phenotype references
  Stomatocytosis II
  Succinic Acidemia
  THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) Has associated chemicals Has associated genes Has associated phenotype references
  THYROTROPIN-RELEASING HORMONE DEFICIENCY Has associated chemicals Has associated genes Has associated phenotype references
  Transcobalamin I Deficiency
  Trimethylaminuria Has associated chemicals Has associated genes Has associated phenotype references
  TRYPSINOGEN DEFICIENCY Has associated chemicals Has associated genes Has associated phenotype references
  Warfarin Sensitivity Has associated chemicals Has associated genes Has associated phenotype references
  Weinstein Kliman Scully syndrome
  Wiedemann Oldigs Oppermann syndrome
  Xanthinuria, Type I Has associated chemicals Has associated genes Has associated phenotype references