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Ontology Browser

Parent Terms Term With Siblings Child Terms
2-hydroxyglutaric aciduria pathway  
adrenoleukodystrophy pathway  
Canavan disease pathway  
carnosinemia pathway  
ethylmalonic encephalopathy pathway  
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  
A neurometabolic disorder affecting the central nervous system, caused by defects in mitochondrial and/or nuclear genes involved in energy metabolic pathways.
Lesch-Nyhan syndrome pathway  
maple syrup urine disease pathway  
mevalonic aciduria pathway  
nervous system lysosomal storage disease pathway +   
nonketotic hyperglycinemia pathway  
phenylketonuria pathway  
pyruvate carboxylase deficiency pathway  
pyruvate decarboxylase deficiency pathway +   
pyruvate kinase deficiency of red cells pathway  
Refsum disease pathway  
tyrosinemia pathway +   

Exact Synonyms: Infantile necrotizing encephalomyelopathy pathway ;   Leigh syndrome pathway ;   juvenile subacute necrotizing encephalomyelopathy pathway ;   subacute necrotizing encephalomyelopathy pathway
Related Synonyms: SMP:00196
Definition Sources: PMID:22273117, PMID:23772060

paths to the root