Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
3-Hydroxyacyl-CoA Dehydrogenase Deficiency  
3-methylglutaconic aciduria +   
5-Nucleotidase Syndrome 
6-Phosphogluconolactonase Deficiency 
Acetylcarnitine Deficiency 
Acholinesterasemia 
Acid Phosphatase Deficiency  
Acid-Base Imbalance +   
acquired metabolic disease +   
Alpha-Fetoprotein Deficiency  
amino acid metabolic disorder +   
Amino Acid Transport Disorders, Inborn +   
Amobarbital, Deficient N-Hydroxylation of 
Angiotensin I-Converting Enzyme, Benign Serum Increase  
Arene Oxide Detoxification Defect 
aromatase excess syndrome  
Aryl Hydrocarbon Hydroxylase Inducibility 
bilirubin metabolic disorder +   
Bisphosphoglycerate Mutase Deficiency  
Butyrylcholinesterase Deficiency  
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type  
carbohydrate metabolic disorder +   
carbohydrate metabolism disease +   
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO  
Carnitine Acetyltransferase Deficiency  
CHITOTRIOSIDASE DEFICIENCY  
Chromate Resistance 
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA  
Combined Malonic and Methylmalonic Aciduria  
Combined Oxidative Phosphorylation Deficiency 11  
Combined Oxidative Phosphorylation Deficiency 12  
Combined Oxidative Phosphorylation Deficiency 13  
Combined Oxidative Phosphorylation Deficiency 14  
Combined Oxidative Phosphorylation Deficiency 15  
Combined Oxidative Phosphorylation Deficiency 16  
Combined Oxidative Phosphorylation Deficiency 17  
Combined Oxidative Phosphorylation Deficiency 18  
Combined Oxidative Phosphorylation Deficiency 19  
Combined Oxidative Phosphorylation Deficiency 20  
Combined Oxidative Phosphorylation Deficiency 21  
Combined Oxidative Phosphorylation Deficiency 22  
Combined Oxidative Phosphorylation Deficiency 23  
Combined Oxidative Phosphorylation Deficiency 24  
Combined Oxidative Phosphorylation Deficiency 33  
Combined Oxidative Phosphorylation Deficiency 8  
Combined Oxidative Phosphorylation Deficiency 9  
congenital secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
Copper Deficiency, Familial Benign 
Coumarin Resistance  
Coumarin Sensitivity  
Creatine Phosphokinase, Elevated Serum  
cytochrome-c oxidase deficiency disease +   
Deafness Hyperuricemia Neurologic Ataxia 
Deoxyribose-5-Phosphate Aldolase Deficiency 
Dihydropyrimidinase Deficiency  
Diphenylhydantoin, Defect in Hydroxylation of 
DNA Repair-Deficiency Disorders +   
dopamine beta-hydroxylase deficiency  
Efavirenz, Poor Metabolism of  
Enterokinase Deficiency  
Ethanolaminosis 
Familial Amyloidosis +   
Finnish Lethal Neonatal Metabolic Syndrome  
FUCOSYLTRANSFERASE 6 DEFICIENCY  
Fumaric Aciduria  
Glucocorticoid Receptor Deficiency  
glucose metabolism disease +   
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
Glutamate Formiminotransferase Deficiency  
glycerol kinase deficiency  
Glycoprotein Storage Disease 
Glyoxalase II Deficiency 
Growth Factors, Combined Defect of 
Hereditary Hyperbilirubinemia +   
Hyaluronan Metabolism, Defect in 
Hypercalcemia, Infantile, 1  
Hypercatabolic Hypoproteinemia  
Hyperchlorhidrosis, Isolated  
Hyperlactatemia 
Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis +   
Hypoadiponectinemia  
Hypokalemia, Familial 
inherited metabolic disorder +   
Inosine Triphosphatase Deficiency  
Intrinsic Factor and R Binder, Combined Congenital Deficiency of 
Kallikrein, Decreased Urinary Activity of  
L-Gulonolactone Oxidase, Nonfunctional 
Lactate Dehydrogenase B Deficiency  
Lactic Aciduria due to D-Lactic Acid  
LEPTIN DEFICIENCY OR DYSFUNCTION  
Leptin Receptor Deficiency  
Leukotriene C4 Synthase Deficiency  
lipid metabolism disorder +   
Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.
lysosomal storage disease +   
Malabsorption Syndromes +   
Malonic Aciduria  
Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type 
Mannose-Binding Protein Deficiency  
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
Metabolic Bone Diseases +   
Metabolic Brain Diseases +   
Metabolic Brain Diseases, Inborn +   
Metabolic Skin Diseases +   
Metabolic Syndrome +   
metal metabolism disorder +   
Methemoglobin Reductase Deficiency 
methylmalonic aciduria and homocystinuria type cblG  
Methylmalonyl-Coenzyme A Mutase Deficiency 
mineral metabolism disease +   
mitochondrial complex II deficiency  
mitochondrial metabolism disease +   
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY  
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY  
Myeloperoxidase Deficiency  
N Acetyltransferase Deficiency +   
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency  
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency  
Pancreatic Insufficiency, Combined Exocrine 
peroxisomal disease +   
Phenacetin O-Deethylase, Deficiency of  
Phenol Sulfotransferase Deficiency 
Phosphoglycerate Kinase 1 Deficiency  
Phosphohydroxylysinuria  
phosphorus metabolism disease +   
plasma protein metabolism disease +   
Poor Drug Metabolism, CYP2C19-Related  
Poor Drug Metabolism, CYP2D6-Related  
porphyria +   
progeria +   
Proguanil, Poor Metabolism of  
Proteostasis Deficiencies +   
purine-pyrimidine metabolic disorder +   
pyrimidine metabolic disorder +   
renal tubular transport disease +   
Retinol-Binding Protein Deficiency 
SEDOHEPTULOKINASE DEFICIENCY  
sepiapterin reductase deficiency  
SHORT Syndrome  
steroid inherited metabolic disorder +   
Stomatocytosis I  
Stomatocytosis II  
Succinic Acidemia 
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)  
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)  
thiopurine S-methyltransferase deficiency +   
Thyrotropin-Releasing Hormone Deficiency  
Transcobalamin I Deficiency  
trimethylaminuria  
Trypsinogen Deficiency  
vitamin metabolic disorder +   
Warfarin Sensitivity  
Wasting Syndrome +   
Water-Electrolyte Imbalance +   
Weinstein Kliman Scully Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
 Barth syndrome +   
 Dyslipidemias +   
 lipodystrophy +   
 lipomatosis +   
 Refsum disease +   
 xanthomatosis +   

Synonyms
Exact Synonyms: fatty acid metabolism disorder ;   lipid metabolism disorders ;   lipid metabolism, inborn error ;   lipid metabolism, inborn errors
Primary IDs: MESH:D008052 ;   MESH:D052439
Alternate IDs: DOID:9005731 ;   RDO:0000804 ;   RDO:0006010
Definition Sources: MESH:D008052, http://en.wikipedia.org/wiki/Lipid_metabolism

paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.