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Ontology Browser

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.
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Exact Synonyms: 2-hydroxyglutaricaciduria disease pathway ;   2-hydroxyglutaricaciduria pathway
Related Synonyms: SMP:00136
Definition Sources: OMIM:236792, OMIM:600721, OMIM:613657, OMIM:615182

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