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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:glutatione synthetase deficiency with 5-oxoprolinuria
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Accession:DOID:0081034 term browser browse the term
Definition:A glutathione synthetase deficiency that is characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding glutathione synthetase (GSS) on chromosome 20q11. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline. (DO)
Synonyms:primary_id: OMIM:266130
 xref: ORDO:32
For additional species annotation, visit the Alliance of Genome Resources.

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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    Nutritional and Metabolic Diseases 6780
      disease of metabolism 6780
        inherited metabolic disorder 4684
          amino acid metabolic disorder 803
            glutathione synthetase deficiency 1
              glutatione synthetase deficiency with 5-oxoprolinuria 1
Path 2
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13068
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11804
        genetic disease 11315
          monogenic disease 8884
            autosomal genetic disease 7927
              autosomal recessive disease 4932
                glutatione synthetase deficiency with 5-oxoprolinuria 1
paths to the root