Search Ontology:
Human Disease

2-hydroxyglutaric aciduria

Term ID
DOID:0050573
Synonyms
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)
References
Ontology
Human Disease   ( DOID:0050573 )
Relationships
is a type of
has subtype
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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