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RGD uses the Human Disease Ontology (DO, 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:glutathione synthetase deficiency
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Accession:DOID:0080699 term browser browse the term
Definition:An amino acid metabolic disorder characterized by the lack of glutathione production. (DO)
Synonyms:exact_synonym: 5-oxoprolinemia;   5-oxoprolinuria;   Deficiency of Glutathione Synthetase;   GSSD;   Pyroglutamic Acidemia;   deficiency of glutathione synthase;   pyroglutamic aciduria
 primary_id: MESH:C536835
 alt_id: OMIM:266130
 xref: GARD:10047;   NCI:C128193;   ORDO:32
For additional species annotation, visit the Alliance of Genome Resources.

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glutathione synthetase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gss glutathione synthetase ISO DNA:missense mutations:cds:multiple (human)
DNA:mutations: :multiple (human)
ClinVar Annotator: match by OMIM:266130
ClinVar Annotator: match by term: Glutathione synthetase deficiency
ClinVar Annotator: match by term: 5-Oxoprolinuria
PMID:5476481, PMID:8896573, PMID:10369661, PMID:11167850, PMID:11445798, PMID:12638941, PMID:14635114, PMID:15056072, PMID:15717202, PMID:17479648, PMID:20981092, PMID:25741868, PMID:25851806, PMID:28492532, PMID:28822442, PMID:9215686, PMID:8896573 RGD:1302516, RGD:1599324 NCBI chr 3:151,076,254...151,106,557
Ensembl chr 3:151,076,254...151,106,557
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          amino acid metabolic disorder 433
            glutathione synthetase deficiency 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            amino acid metabolic disorder 433
              glutathione synthetase deficiency 1
paths to the root


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