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Ontology Browser

Term:
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency (DOID:0050713)
Annotations: Rat: (4) Mouse: (5) Human: (5) Chinchilla: (5) Bonobo: (5) Dog: (5) Squirrel: (5) Pig: (5)
Parent Terms Term With Siblings Child Terms
combined oxidative phosphorylation deficiency 6  
combined oxidative phosphorylation deficiency 7  
familial hypertrophic cardiomyopathy +   
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency +   
A mitochondrial metabolism disease that has_material_basis_in a deficiency of cytochrome c oxidase. (DO)
French Canadian Leigh disease  
Hyperglycinemia, Lactic Acidosis, and Seizures  
Lipoatrophy with Diabetes, Hepatic Steatosis, Cardiomyopathy, and Leukomelanodermic Papules 
MELAS syndrome +   
MERRF Syndrome +   
Mitochondrial Complex I Deficiency, Nuclear Type 20  
mitochondrial complex V (ATP synthase) deficiency nuclear type 2  
mitochondrial DNA depletion syndrome 13  
mitochondrial DNA depletion syndrome 14  
mitochondrial DNA depletion syndrome 4A +   
mitochondrial DNA depletion syndrome 5  
mitochondrial DNA depletion syndrome 8A  
Mitochondrial Encephalopathy  
Sensorineural Deafness with Hypertrophic Cardiomyopathy  

Synonyms
Exact Synonyms: fatal infantile COX deficiency ;   fatal infantile cytochrome C oxidase deficiency ;   fatal infantile encephalocardiomyopathy
Primary IDs: RDO:9004918
Xrefs: ORDO:1561
Definition Sources: http://omim.org/entry/604377

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