OBO ID: DOID:0111257
Term Name: gamma-glutamyl transpeptidase deficiency Search Ontology:
Synonyms:
  • gamma-glutamyl transferase deficiency
  • GGT deficiency
  • GGT1 deficiency
  • glutathionuria
  • GTG deficiency
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. https://www.ncbi.nlm.nih.gov/pubmed/29483667
References:
Ontology: Human Disease   ( DOID:0111257 )
Relationships
is a type of:
OTHER gamma-glutamyl transpeptidase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GGT1 ?Glutathioninuria 231950
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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