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D-2-Hydroxyglutaric Aciduria

Disease ID: disease_node_16045

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DbxrefGARD:5661, MIM:PS600721
SubclassofDOID_0050573
Data SourceDOID
Disease Has LocationUBERON_0001893
Doid LabelD-2-hydroxyglutaric aciduria
Doid DescriptionAn 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.
Disease Node Iddisease_node_16045
Doid IdDOID_0050575
LabelD-2-Hydroxyglutaric Aciduria