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Ontology Browser

Term:
Mitochondrial Myopathy, Infantile, Transient (DOID:9007527)
Annotations: Rat: (7) Mouse: (8) Human: (8) Chinchilla: (0) Bonobo: (0) Dog: (7) Squirrel: (0) Pig: (7)
Parent Terms Term With Siblings Child Terms
chronic progressive external ophthalmoplegia +   
combined oxidative phosphorylation deficiency 3  
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
mitochondrial DNA depletion syndrome 11  
mitochondrial DNA depletion syndrome 12a  
mitochondrial DNA depletion syndrome 12b  
mitochondrial DNA depletion syndrome 14  
mitochondrial DNA depletion syndrome 15  
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive +   
mitochondrial encephalomyopathy +   
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport 
Mitochondrial Myopathy with Diabetes 
Mitochondrial Myopathy with Lactic Acidosis  
Mitochondrial Myopathy, and Ataxia  
Mitochondrial Myopathy, Infantile, Transient  
Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis.
Mitochondrial Myopathy, Lethal Infantile  
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT  
myopathy, lactic acidosis, and sideroblastic anemia +   
NARP syndrome  

Synonyms
Exact Synonyms: COX DEFICIENCY MYOPATHY, INFANTILE, TRANSIENT ;   MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT, DUE TO RESPIRATORY CHAIN DEFICIENCY ;   MMIT ;   Mitochondrial myopathy, infantile, due to reversible cytochrome c oxidase deficiency ;   RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT
Primary IDs: OMIM:500009 ;   RDO:9000705

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