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| Term | 2-hydroxyglutaric aciduria | ID (Ontology) | DOID:0050573 (Human Disease) |
| Definition | An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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inherited metabolic disorder |__amino acid metabolic disorder |__2-hydroxyglutaric aciduria 15 rec. |__combined D-2- and L-2-hydroxyglutaric aciduria 8 rec. |__D-2-hydroxyglutaric aciduria 6 rec. | |__D-2-hydroxyglutaric aciduria 1 1 rec. | |__D-2-hydroxyglutaric aciduria 2 2 rec. |__L-2-hydroxyglutaric aciduria 1 rec. |
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| Is a | amino acid metabolic disorder | ||
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GARD:10761 MESH:C535306 |
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