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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: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)
ClinVar Annotator: match by term: Glutathione synthetase deficiency
ClinVar Annotator: match by term: 5-Oxoprolinuria
ClinVar Annotator: match by OMIM:266130
DNA:mutations: :multiple (human)
ClinVar
OMIM
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
JBrowse link
hemolytic anemia due to glutathione synthetase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gss glutathione synthetase ISO ClinVar Annotator: match by term: Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to OMIM
ClinVar
PMID:5476481 PMID:8896573 PMID:11167850 PMID:15717202 NCBI chr 3:151,076,254...151,106,557
Ensembl chr 3:151,076,254...151,106,557
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        inherited metabolic disorder 2355
          amino acid metabolic disorder 448
            glutathione synthetase deficiency 1
              hemolytic anemia due to glutathione synthetase deficiency 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          inherited metabolic disorder 2355
            amino acid metabolic disorder 448
              glutathione synthetase deficiency 1
                hemolytic anemia due to glutathione synthetase deficiency 1
paths to the root