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Term:
mitochondrial metabolism disease (DOID:700)
Annotations: Rat: (310) Mouse: (335) Human: (350) Chinchilla: (294) Bonobo: (292) Dog: (307) Squirrel: (293) Pig: (308)
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 Exocrine Pancreatic Insufficiency 
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA  
congenital leptin deficiency  
congenital secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
Copper Deficiency, Familial Benign 
Coumarin Resistance  
Coumarin Sensitivity  
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 +   
FUCOSYLTRANSFERASE 6 DEFICIENCY  
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 
Gordon Holmes syndrome  
Greenberg dysplasia  
Growth Factors, Combined Defect of 
Hereditary Hyperbilirubinemia +   
Hyaluronan Metabolism, Defect in 
Hypercalcemia, Infantile, 1  
Hypercatabolic Hypoproteinemia  
Hyperlactatemia 
Hypoadiponectinemia  
Hypokalemia, Familial 
inherited metabolic disorder +   
Inosine Triphosphatase Deficiency  
Intrinsic Factor and R Binder, Combined Congenital Deficiency of 
isolated elevated serum creatine phosphokinase levels  
isolated hyperchlorhidrosis  
Kallikrein, Decreased Urinary Activity of  
Lactate Dehydrogenase B Deficiency  
Lactic Aciduria due to D-Lactic Acid  
Leptin Receptor Deficiency  
LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE  
Leukotriene C4 Synthase Deficiency  
lipid metabolism disorder +   
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 +   
Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY  
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY  
Myeloperoxidase Deficiency  
N Acetyltransferase Deficiency +   
Nonfunctional L-Gulonolactone Oxidase 
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency  
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency  
overhydrated hereditary stomatocytosis  
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  
Squalene Synthase Deficiency  
steroid inherited metabolic disorder +   
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  
Uridine-Cytidineuria  
vitamin metabolic disorder +   
Warfarin Sensitivity  
Wasting Syndrome +   
Water-Electrolyte Imbalance +   
Weinstein Kliman Scully Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
 Leigh disease +   

Synonyms
Exact Synonyms: Deficiencies, Respiratory Chain ;   Mitochondrial Disease ;   Mitochondrial Disorder ;   Mitochondrial Disorders ;   Mitochondrial Electron Transport Chain Deficiencies ;   Mitochondrial Respiratory Chain Deficiencies ;   Oxidative Phosphorylation Deficiencies ;   Oxidative Phosphorylation Deficiency ;   Respiratory Chain Deficiency
Narrow Synonyms: EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC
Related Synonyms: Mitochondrial Diseases
Primary IDs: MESH:D028361 ;   RDO:0001846
Xrefs: GARD:7048 ;   ICD10CM:E88.4
Definition Sources: MESH:D028361, http://en.wikipedia.org/wiki/Mitochondrial_disease

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