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glycine encephalopathy

Disease Summary
Associated Targets (4)
Tbio

3

Tchem

1


GARD Rare
Mondo Description Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.
Uniprot Description Autosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms.
Disease Ontology Description An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues.
Mondo Term and Equivalent IDs
MONDO:0011612:  glycine encephalopathy
GARD:0007219: 
NCIT:C84937: 
Orphanet:407: 
SCTID:237939006: 
UMLS:C0751748: