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Ontology Browser

Term:
ethylmalonic encephalopathy pathway (PW:0002206)
Annotations: Rat: (14) Mouse: (14) Human: (14) Chinchilla: (14) Bonobo: (14) Dog: (14) Squirrel: (14) Pig: (14)
Parent Terms Term With Siblings Child Terms
2-hydroxyglutaric aciduria pathway  
adrenoleukodystrophy pathway  
Canavan disease pathway  
carnosinemia pathway  
ethylmalonic encephalopathy pathway  
An autosomal recessive metabolic disorder affecting the brain and peripheral vessels and manifested in infancy. Genetic studies identify defects in the ETHE1 gene, a mitochondrial resident gene product, thus pointing to implications in many aspects of mitochondrial metabolism and homeostasis.
galactosemias pathway +   
Hartnup disease pathway  
hereditary central nervous system demyelinating disease pathway +   
homocarnosinosis pathway  
hyperlysinemia pathway +   
inborn error of urea cycle pathway +   
Leigh disease pathway  
Lesch-Nyhan syndrome pathway  
maple syrup urine disease pathway  
mevalonic aciduria pathway  
nervous system lysosomal storage disease pathway +   
nonketotic hyperglycinemia pathway  
phenylketonuria pathway  
Refsum disease pathway  
tyrosinemia pathway +   

Synonyms
Exact Synonyms: ethylmalonic encephalopathy disease pathway
Related Synonyms: SMP:00181
Definition Sources: OMIM:602473

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