Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
2-hydroxyglutaric aciduria pathway (PW:0002205)
Annotations: Rat: (23) Mouse: (23) Human: (23) Chinchilla: (23) Bonobo: (22) Dog: (23) Squirrel: (22) Pig: (23)
Parent Terms Term With Siblings Child Terms
2-hydroxyglutaric aciduria pathway  
An autosomal recessive neurometabolic disorder with several phenotypes and due to mutations in the L2HGDH gene (the L-type), D2HGDH and IDH2 genes (the D-type). A combined L- and D-type has also been observed and has been attributed to mutations in the SLC25A1 gene.
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  
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: 2-hydroxyglutaricaciduria disease pathway ;   2-hydroxyglutaricaciduria pathway
Related Synonyms: SMP:00136
Definition Sources: OMIM:236792, OMIM:600721, OMIM:613657, OMIM:615182

paths to the root