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D-2-Hydroxyglutaric Aciduria 1

Disease ID: disease_node_16047

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DbxrefMIM:600721
SubclassofDOID_0050737, DOID_0050575
Data SourceDOID
SynonymsD2HGA1
Doid LabelD-2-hydroxyglutaric aciduria 1
Doid DescriptionA D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_16047
Doid IdDOID_0111351
LabelD-2-Hydroxyglutaric Aciduria 1