Term Name: | D-2-hydroxyglutaric aciduria 1 |
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Synonyms: | D2HGA1 |
Definition: | A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3. |
Ontology: | Human Disease [DOID:0111351] ( DOID:0111351 ) |