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Disease Ontology Browser
gamma-glutamyl transpeptidase deficiency (DOID:0111257)
Alliance: disease page
Synonyms: gamma-glutamyl transferase deficiency; GGT1 deficiency; GGT deficiency; glutathionuria; GTG deficiency
Alt IDs: OMIM:231950, MESH:C536836, ORDO:33573, UMLS_CUI:C0268524
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory