| Disease Browser
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Parent Node:
 Genetic Diseases, Inborn (D030342) |
Parent Node:
Metabolic Diseases (D008659) |
..Starting node
.. Metabolism, Inborn Errors (D008661)
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Child Nodes:
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| ........3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784) |
| ........3-Hydroxyacyl-CoA Dehydrogenase Deficiency (C535310) |
| ........3-Methylglutaconic Aciduria (C579867) |
| ........3-Methylglutaconic Aciduria Type IV (C565393) |
| ........3-Methylglutaconic Aciduria, Type I (C562801) |
| ........3-Methylglutaconic Aciduria, Type V (C565706) |
| ........5-Nucleotidase syndrome (C535321) |
| ........6-Phosphogluconolactonase Deficiency (C566803) |
| ........Acetylcarnitine deficiency (C536006) |
| ........Acholinesterasemia (C566750) |
| ........Acid Phosphatase Deficiency (C562645) |
| ........Adenine phosphoribosyltransferase deficiency (C538228) |
| ........AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY (OMIM:608688) |
| ........alpha-Fetoprotein Deficiency (C566300) |
........Amino Acid Metabolism, Inborn Errors (D000592)  169 |
| ........Amino Acid Transport Disorders, Inborn (D020157) 3 |
| ........Amobarbital, Deficient N-Hydroxylation of (C565959) |
| ........Amyloidosis, Familial (D028226) 13 |
| ........Arene Oxide Detoxification Defect (C565043) |
| ........Aromatase deficiency (C537436) |
| ........Aryl Hydrocarbon Hydroxylase Inducibility (C566250) |
| ........BISPHOSPHOGLYCERATE MUTASE DEFICIENCY (OMIM:222800) |
| ........Brain Diseases, Metabolic, Inborn (D020739) 218 |
| ........Butyrylcholinesterase deficiency (C537417) |
| ........Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type (C566751) |
| ........Carbohydrate Metabolism, Inborn Errors (D002239) 169 |
| ........Carnitine Acetyltransferase Deficiency (C563249) |
| ........Carnitine palmitoyl transferase 2 deficiency (C535589) |
| ........Chromate Resistance (C566125) |
| ........COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426) |
| ........Combined Malonic and Methylmalonic Aciduria (C580002) |
| ........Combined Oxidative Phosphorylation Deficiency 1 (C563797) |
| ........Combined Oxidative Phosphorylation Deficiency 4 (C565690) |
| ........Combined Oxidative Phosphorylation Deficiency 5 (C567126) |
| ........Congenital chloride diarrhea (C536210) |
| ........Copper deficiency, familial benign (C535468) |
| ........Costeff optic atrophy syndrome (C535311) |
| ........Coumarin Resistance (C563039) |
| ........Coumarin Sensitivity (C567276) |
| ........CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320) |
| ........Cytochrome-c Oxidase Deficiency (D030401) 2 |
| ........Deafness hyperuricemia neurologic ataxia (C535995) |
| ........Deoxyribose-5-Phosphate Aldolase Deficiency (C565112) |
| ........Diarrhea 3, Secretory Sodium, Congenital (C562576) |
| ........Diarrhea 3, Secretory Sodium, Congenital, Syndromic (C567490) |
| ........Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099) |
| ........Dihydropyrimidinase Deficiency (C562815) |
| ........Diphenylhydantoin, Defect in Hydroxylation of (C565044) |
| ........Drug Metabolism, Poor, CYP2C19-Related (C563703) |
| ........Drug Metabolism, Poor, CYP2D6-Related (C563835) |
| ........Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657) |
| ........Enterokinase Deficiency (C562649) |
| ........Ethanolaminosis (C562651) |
| ........Familial gynecomastia, due to increased aromatase activity (C000591739) |
| ........Finnish lethal neonatal metabolic syndrome (C537934) |
| ........Fumaric aciduria (C538191) |
| ........Glucocorticoid Receptor Deficiency (C564221) |
| ........Glutamate formiminotransferase deficiency (C537425) |
| ........Glycoprotein Storage Disease (C565538) |
| ........Glyoxalase II Deficiency (C564215) |
| ........Growth Factors, Combined Defect of (C565529) |
| ........HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470) |
| ........HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700) |
| ........Hyaluronan Metabolism, Defect in (C565742) |
| ........Hyperbilirubinemia, Hereditary (D006933) 7 |
| ........Hypercalcemia, Idiopathic, of Infancy (C562581) |
| ........HYPERCHLORHIDROSIS, ISOLATED (OMIM:143860) |
| ........Hypoadiponectinemia (C567258) |
| ........Hypokalemia, Familial (C562654) |
| ........Hypoproteinemia, Hypercatabolic (C565476) |
| ........Inosine Triphosphatase Deficiency (C564127) |
| ........Intrinsic Factor and R Binder, Combined Congenital Deficiency of (C565461) |
| ........Kallikrein, Decreased Urinary Activity of (C563653) |
| ........L-Gulonolactone Oxidase, Nonfunctional (C565486) |
| ........Lactate Dehydrogenase B Deficiency (C563641) |
| ........Lactic Aciduria due to D-Lactic Acid (C565446) |
| ........Leukotriene C4 Synthase Deficiency (C565439) |
| ........Lipid Metabolism, Inborn Errors (D008052) 135 |
| ........LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016) |
| ........Lysosomal Storage Diseases (D016464) 106 |
| ........Malonic aciduria (C535702) |
| ........Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type (C563601) |
| ........Mannose-Binding Protein Deficiency (C563602) |
| ........Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566) |
| ........Metal Metabolism, Inborn Errors (D008664) 55 |
| ........Methemoglobin Reductase Deficiency (C563171) |
| ........Methylcobalamin Deficiency, CblG Type (C565394) |
| ........Methylmalonyl-Coenzyme A mutase deficiency (C537573) |
| ........Mitochondrial Complex II Deficiency (C565375) |
| ........Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624) |
| ........Myeloperoxidase Deficiency (C562864) |
| ........N acetyltransferase deficiency (C536107) |
| ........Pancreatic Insufficiency, Combined Exocrine (C564907) |
| ........Peroxisomal Disorders (D018901) 39 |
| ........Phenacetin O-Deethylase, Deficiency of (C565127) |
| ........Phenol sulfotransferase deficiency (C537895) |
| ........Phosphoglycerate Kinase 1 Deficiency (C567067) |
| ........Porphyrias (D011164) 18 |
| ........Progeria (D011371) 11 |
| ........Proguanil, Poor Metabolism of (C563704) |
| ........Purine-Pyrimidine Metabolism, Inborn Errors (D011686) 24 |
| ........Renal Tubular Transport, Inborn Errors (D015499) 76 |
| ........Retinol-Binding Protein Deficiency (C566711) |
| ........Steroid Metabolism, Inborn Errors (D043202) 34 |
| ........Stomatocytosis I (C566111) |
| ........Stomatocytosis II (C566110) |
| ........Succinic Acidemia (C563952) |
| ........THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120) |
| ........Transcobalamin I Deficiency (C562798) |
| ........Trimethylaminuria (C536561) |
| ........Warfarin Sensitivity (C567080) |
| ........Weinstein Kliman Scully syndrome (C536688) |
| ........Wiedemann Oldigs Oppermann syndrome (C536705) |
| ........Xanthinuria, Type I (C562584) |
Sister Nodes: |
..Acid-Base Imbalance (D000137) 42
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..ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 (OMIM:606770)
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..ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 (OMIM:606771)
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..Brain Diseases, Metabolic (D001928) 244
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..Calcium Metabolism Disorders (D002128) 94
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..DNA Repair-Deficiency Disorders (D049914) 95
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..Glucose Metabolism Disorders (D044882) 137
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..Hyperlactatemia (D065906)
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..Hypermanganesemia with Dystonia Polycythemia and Cirrhosis (C548016)
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..Iron Metabolism Disorders (D019189) 23
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..Lipid Metabolism Disorders (D052439) 189
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..Malabsorption Syndromes (D008286) 29
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..Metabolic Syndrome X (D024821) 1
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..Metabolism, Inborn Errors (D008661) 886
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..Mitochondrial Diseases (D028361) 114
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..Phosphorus Metabolism Disorders (D010760) 25
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..Porphyrias (D011164) 18
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..Proteostasis Deficiencies (D057165) 55
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..SHORT syndrome (C537327)
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..Skin Diseases, Metabolic (D012875) 33
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..Wasting Syndrome (D019282) 1
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..Water-Electrolyte Imbalance (D014883) 31
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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