| Dataset | DISEASES Curated Gene-Disease Association Evidence Scores |
| Category | disease or phenotype associations |
| Type | disease |
| Description | 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. (Human Disease Ontology, DOID_0050573) |
| Similar Terms | |
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4 genes involed in the disease 2-hydroxyglutaric aciduria from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
