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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;   GSSD;   INHERITED GLUTATHIONE SYNTHETASE DEFICIENCY;   deficiency of glutathione synthase;   deficiency of glutathione synthetase;   pyroglutamic acidemia;   pyroglutamic aciduria
 primary_id: MESH:C536835
 xref: GARD:10047;   NCI:C128193


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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: Inherited glutathione synthetase deficiency
CTD Direct Evidence: marker/mechanism
DNA:mutations: :multiple (human)		 ClinVar
CTD
RGD		 PMID:5476481 PMID:8896573 PMID:9215686 PMID:9536098 PMID:10369661 More... RGD:1302516, RGD:1599324 NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198 		JBrowse link
glutathione synthetase deficiency of erythrocytes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gss glutathione synthetase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glutathione synthetase deficiency without 5-oxoprolinuria		 OMIM
CTD
ClinVar		 PMID:5476481 PMID:8896573 PMID:9215686 PMID:11167850 PMID:15056072 More... NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198 		JBrowse link
glutatione synthetase deficiency with 5-oxoprolinuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gss glutathione synthetase ISO OMIM NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        inherited metabolic disorder 6256
          amino acid metabolic disorder 1523
            glutathione synthetase deficiency 1
              glutathione synthetase deficiency of erythrocytes 1
              glutatione synthetase deficiency with 5-oxoprolinuria 1
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          inherited metabolic disorder 6256
            amino acid metabolic disorder 1523
              glutathione synthetase deficiency 1
                glutathione synthetase deficiency of erythrocytes 1
                glutatione synthetase deficiency with 5-oxoprolinuria 1
paths to the root