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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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gamma-glutamyl transpeptidase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggt1 gamma-glutamyltransferase 1 ISO OMIM NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        inherited metabolic disorder 2223
          amino acid metabolic disorder 432
            gamma-glutamyl transpeptidase deficiency 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                gamma-glutamyl transpeptidase deficiency 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.