OBO ID: DOID:0050573 |
Term Name: | 2-hydroxyglutaric aciduria | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:0050573 ) |
OTHER 2-hydroxyglutaric aciduria PAGES
GENES INVOLVED
No data available
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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