Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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-glutamyltranspeptidase deficiency;   Glutathionuria;   gamma-glutamyl transferase deficiency;   gamma-glutamyltransferase deficiency
 primary_id: MESH:C536836
 alt_id: OMIM:231950
 xref: GARD:10099;   ORDO:33573
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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 ClinVar Annotator: match by term: gamma-Glutamyltransferase deficiency OMIM
ClinVar
PMID:25741868 NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Nutritional and Metabolic Diseases 6770
      disease of metabolism 6770
        inherited metabolic disorder 4673
          amino acid metabolic disorder 802
            gamma-glutamyl transpeptidase deficiency 1
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                gamma-glutamyl transpeptidase deficiency 1
paths to the root