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Term:
Parent Terms Term With Siblings Child Terms
3-Hydroxyacyl-CoA Dehydrogenase Deficiency  
3-methylglutaconic aciduria +   
5-Nucleotidase Syndrome 
6-Phosphogluconolactonase Deficiency 
aceruloplasminemia  
Acetylcarnitine Deficiency 
Acholinesterasemia  
Acid Phosphatase Deficiency  
Acid-Base Imbalance +   
acquired metabolic disease +   
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate  
Alpha-Fetoprotein Deficiency  
Alpha-Fetoprotein, Hereditary Persistence of  
amino acid metabolic disorder +   
Amino Acid Transport Disorders, Inborn +   
Angiotensin I-Converting Enzyme, Benign Serum Increase  
Arene Oxide Detoxification Defect 
aromatase excess syndrome  
Aryl Hydrocarbon Hydroxylase Inducibility 
bilirubin metabolic disorder +   
Butyrylcholinesterase Deficiency  
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type  
carbohydrate metabolic disorder +   
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO  
Carnitine Acetyltransferase Deficiency  
cerebral amyloid angiopathy +   
CHITOTRIOSIDASE DEFICIENCY  
Chromate Resistance 
Combined Congenital Deficiency of Intrinsic Factor and R Binder 
Combined Defect of Growth Factors 
Combined Exocrine Pancreatic Insufficiency 
Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia  
congenital leptin deficiency  
Congenital Nonspherocytic Hemolytic Anemia 4  
Congenital Nonspherocytic Hemolytic Anemia 5  
congenital secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
Copper Deficiency, Familial Benign 
Coumarin Sensitivity  
Deafness Hyperuricemia Neurologic Ataxia 
Decreased Urinary Activity of Kallikrein  
Defect in Hyaluronan Metabolism 
Defect in Hydroxylation of Diphenylhydantoin 
Deficient N-Hydroxylation of Amobarbital 
Deoxyribose-5-Phosphate Aldolase Deficiency 
DNA Repair-Deficiency Disorders +   
dopamine beta-hydroxylase deficiency  
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE  
Efavirenz, Poor Metabolism of  
enterokinase deficiency  
Ethanolaminosis 
Familial Amyloidosis +   
familial erythrocytosis 8  
familial hypocalciuric hypercalcemia +   
Familial Hypokalemia +   
FUCOSYLTRANSFERASE 6 DEFICIENCY  
Glucocorticoid Receptor Deficiency  
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
Glycoprotein Storage Disease  
Glyoxalase II Deficiency  
Gordon Holmes syndrome  
Greenberg dysplasia  
Hereditary Hyperbilirubinemia +   
Hypercalcemia, Infantile, 1  
Hyperlactatemia 
hyperphosphatemic familial tumoral calcinosis +   
Hypoadiponectinemia  
immunodeficiency 43  
immunoglobulin light chain amyloidosis  
inherited metabolic disorder +   
Inosine Triphosphatase Deficiency  
isolated elevated serum creatine phosphokinase levels  
isolated hyperchlorhidrosis  
Lactate Dehydrogenase B Deficiency  
Lactic Aciduria due to D-Lactic Acid  
Leptin Receptor Deficiency  
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 
Methylmalonyl-Coenzyme A Mutase Deficiency 
mineral metabolism disease +   
mitochondrial metabolism disease +   
An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. (DO)
Monocarboxylate Transporter 1 Deficiency  
Monocyte Esterase Deficiency  
Myeloperoxidase Deficiency  
N Acetyltransferase Deficiency +   
neonatal diabetes mellitus with congenital hypothyroidism  
Nonfunctional L-Gulonolactone Oxidase 
overhydrated hereditary stomatocytosis  
permanent neonatal diabetes mellitus +   
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  
Poor Metabolism of Proguanil  
poor metabolism of thiopurines +   
porphyria +   
progeria +   
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 
SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY  
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)  
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)  
Thyrotropin-Releasing Hormone Deficiency  
Transcobalamin I Deficiency  
trimethylaminuria  
Trypsinogen Deficiency  
type 1 diabetes mellitus 2  
Uridine-Cytidineuria  
variant ABeta2M amyloidosis 
vitamin metabolic disorder +   
warfarin resistance  
warfarin sensitivity +   
Wasting Syndrome +   
Water-Electrolyte Imbalance +   
Weinstein Kliman Scully Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
 adult-onset ataxia and polyneuropathy  
 Bjornstad syndrome  
 carbamoyl phosphate synthetase I deficiency disease  
 Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  
 Childhood Myocerebrohepatopathy Spectrum  
 coenzyme Q10 deficiency disease +   
 combined oxidative phosphorylation deficiency +   
 Cowden-Like Syndrome 
 cytochrome-c oxidase deficiency disease +   
 deafness-dystonia-optic neuronopathy syndrome  
 Deoxyguanosine Kinase Deficiency  
 developmental and epileptic encephalopathy 39  
 Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +   
 ethylmalonic encephalopathy  
 Friedreich ataxia +   
 GRACILE syndrome  
 HMG-CoA synthase 2 deficiency  
 Hypermetabolism due to Defect in Mitochondria  
 HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2  
 hypomyelinating leukodystrophy 4  
 hypotonia-cystinuria syndrome  
 Late-Onset Carnitine Palmitoyltransferase II Deficiency  
 Leber hereditary optic neuropathy +   
 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
 Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
 Mitochondrial Cardiomyopathy  
 mitochondrial complex I deficiency +   
 mitochondrial complex II deficiency +   
 mitochondrial complex III deficiency +   
 mitochondrial complex V (ATP synthase) deficiency +   
 Mitochondrial Cytopathy +   
 mitochondrial DNA depletion syndrome +   
 Mitochondrial Phosphate Carrier Deficiency  
 mitochondrial pyruvate carrier deficiency  
 multiple acyl-CoA dehydrogenase deficiency +   
 multiple mitochondrial dysfunctions syndrome +   
 Myopathy with Giant Abnormal Mitochondria 
 Myopathy, Cataract, Hypogonadism Syndrome 
 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities  
 Noninsulin-Dependent Diabetes Mellitus with Deafness  
 Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
 optic atrophy 1  
 Parkinson's Disease, Mitochondrial  
 Pearson syndrome  
 Progressive External Ophthalmoplegia with Hypogonadism 
 Proximal Myopathy with Focal Depletion of Mitochondria 
 pyruvate carboxylase deficiency disease +   
 pyruvate decarboxylase deficiency +   
 sarcosinemia  
 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
 Spinocerebellar Ataxia with Epilepsy  
 Succinate-Coa Ligase Deficiency +   
 VDAC Deficiency 
 very long chain acyl-CoA dehydrogenase deficiency  
 Wolfram syndrome 2  

Synonyms
Exact Synonyms: Mitochondrial Disease ;   Mitochondrial Disorder ;   Mitochondrial Disorders ;   Mitochondrial Electron Transport Chain Deficiencies ;   Mitochondrial Respiratory Chain Deficiencies ;   Oxidative Phosphorylation Deficiencies ;   Oxidative Phosphorylation Deficiency ;   mitochondrial diseases ;   respiratory chain deficiencies ;   respiratory chain deficiency
Narrow Synonyms: EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC ;   MITOCHONDRIAL DISORDER DUE TO A DEFECT IN ASSEMBLY OR MATURATION OF THE RESPIRATORY CHAIN COMPLEXES
Broad Synonyms: ABNORMALITY OF THE MITOCHONDRION
Xrefs: EFO:0000591 ;   GARD:7048 ;   MESH:D028361 ;   MONDO:0004069
Definition Sources: http://en.wikipedia.org/wiki/Mitochondrial_disease "DO" "DO"

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