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ONTOLOGY REPORT - ANNOTATIONS


Term:gamma-glutamyl transpeptidase deficiency
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Accession:DOID:0111257 term browser browse the term
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. (DO)
Synonyms:exact_synonym: GGT DEFICIENCY;   GGT1 deficiency;   GTG DEFICIENCY;   Gamma-glutamyltransferase deficiency;   Gamma-glutamyltranspeptidase deficiency;   Glutathionuria;   gamma-glutamyl transferase deficiency
 primary_id: MESH:C536836
 alt_id: DOID:9003310;   OMIM:231950;   RDO:0002535
 xref: GARD:10099;   ORDO:33573
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gamma-glutamyl transpeptidase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ggt1 gamma-glutamyltransferase 1 JBrowse link 20 14,019,723 14,045,781 RGD:7240710

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Term Annotations click to browse term
  disease 15620
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        inherited metabolic disorder 1864
          amino acid metabolic disorder 326
            gamma-glutamyl transpeptidase deficiency 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                gamma-glutamyl transpeptidase deficiency 1
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