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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
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 +   
A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation. (DO)
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: Cox Deficiencies ;   Cox Deficiency ;   Cytochrome Oxidase Deficiencies ;   Cytochrome c Oxidase I Deficiency ;   complex IV deficiencies ;   complex IV deficiency ;   cytochrome oxidase deficiency ;   cytochrome-c oxidase deficiencies ;   cytochrome-c oxidase deficiency ;   early-onset hepatic failure and neurologic disorder due to cytochrome c oxidase deficiency
Narrow Synonyms: sensorineural deafness with neurologic features
Xrefs: EFO:0009298 ;   GARD:48 ;   MESH:D030401 ;   MIM:PS220110 ;   NCI:C98910
Definition Sources: https://en.wikipedia.org/wiki/Cytochrome_c_oxidase#Genetic_defects_and_disorders "DO" "DO", https://ghr.nlm.nih.gov/condition/cytochrome-c-oxidase-deficiency "DO" "DO", PMID:26846578 "DO" "DO"

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