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2-hydroxyglutaric aciduria

Go to external page http://purl.obolibrary.org/obo/DOID_0050573


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. [ http://purl.obolibrary.org/obo/ECO_0007638 http://purl.obolibrary.org/obo/ECO_0007637 ]

Term info

Label

2-hydroxyglutaric aciduria

database cross reference
has obo namespace

disease_ontology

id

DOID:0050573

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