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D-2-hydroxyglutaric aciduria

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


GARD Rare
Mondo Description D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.
Disease Ontology Description An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory.
Mondo Term and Equivalent IDs
MONDO:0010924:  D-2-hydroxyglutaric aciduria
GARD:0005661: 
OMIMPS:600721: 
Orphanet:79315: 
SCTID:237960000: 
UMLS:C1833429: 
UMLS:CN233040: