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Ontology Browser

Term:
cytochrome-c oxidase deficiency disease (DOID:3762)
Annotations: Rat: (31) Mouse: (37) Human: (40) Chinchilla: (30) Bonobo: (30) Dog: (32) Squirrel: (28) Pig: (32)
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 
aceruloplasminemia  
Acetylcarnitine Deficiency 
Acholinesterasemia 
Acid Phosphatase Deficiency  
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate  
adult-onset ataxia and polyneuropathy  
Alpha-Fetoprotein Deficiency  
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 +   
Bjornstad syndrome  
Butyrylcholinesterase Deficiency  
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type  
carbamoyl phosphate synthetase I deficiency disease  
carbohydrate metabolic disorder +   
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO  
Carnitine Acetyltransferase Deficiency  
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  
cerebral amyloid angiopathy +   
Childhood Myocerebrohepatopathy Spectrum  
CHITOTRIOSIDASE DEFICIENCY  
Chromate Resistance 
coenzyme Q10 deficiency disease +   
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  
combined oxidative phosphorylation deficiency +   
congenital leptin deficiency  
congenital secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
Copper Deficiency, Familial Benign 
Coumarin Sensitivity  
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 Hyperuricemia Neurologic Ataxia 
deafness-dystonia-optic neuronopathy syndrome  
Defect in Hyaluronan Metabolism 
Defect in Hydroxylation of Diphenylhydantoin 
Deficient N-Hydroxylation of Amobarbital 
Deoxyguanosine Kinase Deficiency  
Deoxyribose-5-Phosphate Aldolase Deficiency 
developmental and epileptic encephalopathy 39  
dopamine beta-hydroxylase deficiency  
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE  
Efavirenz, Poor Metabolism of  
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +   
enterokinase deficiency  
Ethanolaminosis 
ethylmalonic encephalopathy  
Familial Amyloidosis +   
familial erythrocytosis 8  
familial hypocalciuric hypercalcemia +   
Familial Hypokalemia +   
Friedreich ataxia +   
FUCOSYLTRANSFERASE 6 DEFICIENCY  
Glucocorticoid Receptor Deficiency  
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
Glycoprotein Storage Disease  
Glyoxalase II Deficiency  
Gordon Holmes syndrome  
GRACILE syndrome  
Greenberg dysplasia  
Hereditary Hyperbilirubinemia +   
Hypercalcemia, Infantile, 1  
Hypermetabolism due to Defect in Mitochondria 
hyperphosphatemic familial tumoral calcinosis +   
Hypoadiponectinemia  
hypoinsulinemic hypoglycemia with hemihypertrophy  
hypomyelinating leukodystrophy 4  
hypotonia-cystinuria syndrome  
immunodeficiency 43  
immunoglobulin light chain amyloidosis  
Inosine Triphosphatase Deficiency  
isolated elevated serum creatine phosphokinase levels  
isolated hyperchlorhidrosis  
Kallikrein, Decreased Urinary Activity of  
Lactate Dehydrogenase B Deficiency  
Lactic Aciduria due to D-Lactic Acid  
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
Leber hereditary optic neuropathy +   
Leigh disease +   
Leptin Receptor Deficiency  
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Leukotriene C4 Synthase Deficiency  
lipid metabolism disorder +   
lysosomal storage disease +   
Malonic Aciduria  
Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type 
Mannose-Binding Protein Deficiency  
maturity-onset diabetes of the young +   
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
Metabolic Brain Diseases, Inborn +   
metal metabolism disorder +   
Methemoglobin Reductase Deficiency 
Methylmalonyl-Coenzyme A Mutase 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 metabolism disease +   
Mitochondrial Phosphate Carrier Deficiency  
mitochondrial pyruvate carrier deficiency  
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY  
Monocarboxylate Transporter 1 Deficiency  
Monocyte Esterase Deficiency  
multiple acyl-CoA dehydrogenase deficiency +   
multiple mitochondrial dysfunctions syndrome +   
Myeloperoxidase Deficiency  
Myopathy with Giant Abnormal Mitochondria 
Myopathy, Cataract, Hypogonadism Syndrome 
N Acetyltransferase Deficiency +   
neonatal diabetes mellitus with congenital hypothyroidism  
Nonfunctional L-Gulonolactone Oxidase 
Noninsulin-Dependent Diabetes Mellitus with Deafness  
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency  
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency  
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
optic atrophy 1  
overhydrated hereditary stomatocytosis  
Parkinson's Disease, Mitochondrial  
Pearson syndrome  
permanent neonatal diabetes mellitus +   
peroxisomal disease +   
Phenacetin O-Deethylase, Deficiency of  
Phenol Sulfotransferase Deficiency 
phosphoglycerate kinase 1 deficiency  
Phosphohydroxylysinuria  
plasma protein metabolism disease +   
Poor Drug Metabolism, CYP2C19-Related  
Poor Drug Metabolism, CYP2D6-Related  
Poor Metabolism of Proguanil  
porphyria +   
progeria +   
Progressive External Ophthalmoplegia with Hypogonadism 
Proximal Myopathy with Focal Depletion of Mitochondria 
purine-pyrimidine metabolic disorder +   
pyrimidine metabolic disorder +   
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
renal tubular transport disease +   
Retinol-Binding Protein Deficiency 
sarcosinemia  
SEDOHEPTULOKINASE DEFICIENCY  
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
sepiapterin reductase deficiency  
Spinocerebellar Ataxia with Epilepsy  
Squalene Synthase Deficiency  
steroid inherited metabolic disorder +   
Stomatocytosis II  
Succinate-Coa Ligase Deficiency +   
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)  
thiopurine S-methyltransferase deficiency +   
Thyrotropin-Releasing Hormone Deficiency  
Transcobalamin I Deficiency  
trimethylaminuria  
Trypsinogen Deficiency  
type 1 diabetes mellitus 2  
Uridine-Cytidineuria  
variant ABeta2M amyloidosis 
VDAC Deficiency 
very long chain acyl-CoA dehydrogenase deficiency  
vitamin metabolic disorder +   
warfarin resistance  
warfarin sensitivity +   
Weinstein Kliman Scully Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
Wolfram syndrome 2  

Synonyms
Exact Synonyms: Complex IV Deficiency ;   Cox Deficiencies ;   Cox Deficiency ;   Cytochrome Oxidase Deficiencies ;   Cytochrome Oxidase Deficiency ;   Cytochrome c Oxidase I Deficiency ;   complex IV deficiencies ;   cytochrome-c oxidase deficiencies ;   cytochrome-c oxidase deficiency ;   early-onset hepatic failure and neurologic disorder due to cytochrome c oxidase deficiency ;   lethal neonatal hypertrophic cardiomyopathy due to cytochrome c oxidase deficiency ;   mitochondrial complex IV deficiency ;   mitochondrial cytochrome c oxidase deficiency
Narrow Synonyms: sensorineural deafness with neurologic features
Primary IDs: MESH:D030401
Xrefs: NCI:C98910 ;   OMIM:PS220110
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", https://www.ncbi.nlm.nih.gov/pubmed/26846578 "DO" "DO"

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