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Ontology Browser

Term:
mitochondrial DNA depletion syndrome (DOID:0070329)
Annotations: Rat: (26) Mouse: (29) Human: (32) Chinchilla: (27) Bonobo: (27) Dog: (26) Squirrel: (27) Pig: (26)
Parent Terms Term With Siblings Child Terms
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
adult-onset ataxia and polyneuropathy  
Ataxia Neuropathy Spectrum  
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  
early infantile epileptic encephalopathy 39  
encephalopathy due to defective mitochondrial and peroxisomal fission 1  
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2  
ethylmalonic encephalopathy  
Friedreich ataxia +   
GRACILE syndrome  
Hypermetabolism due to Defect in Mitochondria 
hypomyelinating leukodystrophy 4  
hypotonia-cystinuria syndrome  
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
Leber hereditary optic neuropathy +   
Leigh disease +   
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 +   
A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs. (DO)
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 
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  

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