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D-2-hydroxyglutaric aciduria (DOID:0050575)
Annotations: Rat: (3) Mouse: (3) Human: (4) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3)
Parent Terms Term With Siblings Child Terms
combined D-2- and L-2-hydroxyglutaric aciduria  
D-2-hydroxyglutaric aciduria +   
An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. (DO)
L-2-hydroxyglutaric aciduria  

Exact Synonyms: D-2-alpha hydroxyglutaric aciduria ;   D2HGA
Xrefs: GARD:5661 ;   OMIM:PS600721
Definition Sources: "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.