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Summary Literature (0)
DOID:0111257 - gamma-glutamyl transpeptidase deficiency

Disease Ontology Definition:An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23.

Synonyms: GGT deficiency, GGT1 deficiency, GTG deficiency, gamma-glutamyl transferase deficiency, glutathionuria,

Xenbase Genes : ggt1



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): amino acid metabolic disorder (is_a), autosomal recessive disease (is_a)