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Ontology Browser

Term:
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency (DOID:0050713)
Annotations: Rat: (5) Mouse: (6) Human: (7) Chinchilla: (6) Bonobo: (6) Dog: (5) Squirrel: (6) Pig: (5)
Parent Terms Term With Siblings Child Terms
Alpers-Huttenlocher syndrome +   
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  
Immunodeficiency 93  
infantile hypertrophic cardiomyopathy  
Lipoatrophy with Diabetes, Hepatic Steatosis, Cardiomyopathy, and Leukomelanodermic Papules 
MELAS syndrome +   
MERRF Syndrome +   
Mitochondrial Complex IV Deficiency, Nuclear Type 1  
Mitochondrial Complex IV Deficiency, Nuclear Type 10  
Mitochondrial Complex IV Deficiency, Nuclear Type 11  
Mitochondrial Complex IV Deficiency, Nuclear Type 12  
Mitochondrial Complex IV Deficiency, Nuclear Type 14  
Mitochondrial Complex IV Deficiency, Nuclear Type 15  
Mitochondrial Complex IV Deficiency, Nuclear Type 16  
Mitochondrial Complex IV Deficiency, Nuclear Type 17  
Mitochondrial Complex IV Deficiency, Nuclear Type 18  
Mitochondrial Complex IV Deficiency, Nuclear Type 19  
Mitochondrial Complex IV Deficiency, Nuclear Type 20  
Mitochondrial Complex IV Deficiency, Nuclear Type 21  
Mitochondrial Complex IV Deficiency, Nuclear Type 22  
Mitochondrial Complex IV Deficiency, Nuclear Type 3  
Mitochondrial Complex IV Deficiency, Nuclear Type 4  
Mitochondrial Complex IV Deficiency, Nuclear Type 7  
Mitochondrial Complex IV Deficiency, Nuclear Type 8  
mitochondrial complex V (ATP synthase) deficiency nuclear type 2  
mitochondrial DNA depletion syndrome 13  
mitochondrial DNA depletion syndrome 14  
mitochondrial DNA depletion syndrome 5  
mitochondrial DNA depletion syndrome 8A  
Mitochondrial Encephalopathy  
nuclear type mitochondrial complex I deficiency 20  
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 "DO" "DO"

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