D-2-hydroxyglutaric aciduria 1

Definition

Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene.

Also known as D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria caused by mutation in D2HGDH, D2HGDH D-2-hydroxyglutaric aciduria — per MONDO

Also identified as

• DOID 0111351 per MONDO
• OMIM 600721 per MONDO
• UMLS C3152055 per MONDO