ONTOLOGY REPORT - ANNOTATIONS


Term:Glutathione Synthetase Deficiency
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Accession:DOID:9006177 term browser browse the term
Synonyms:exact_synonym: 5-oxoprolinemia;   5-oxoprolinuria;   Deficiency of Glutathione Synthase;   Deficiency of Glutathione Synthetase;   GSSD;   Pyroglutamic Acidemia;   Pyroglutamic aciduria
 primary_id: MESH:C536835;   RDO:0002534
 alt_id: OMIM:266130
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Glutathione Synthetase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gss glutathione synthetase JBrowse link 3 151,076,254 151,106,557 RGD:1302516
RGD:1599324
RGD:7240710
RGD:8554872

Term paths to the root
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Term Annotations click to browse term
  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        inherited metabolic disorder 1808
          amino acid metabolic disorder 337
            Glutathione Synthetase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          inherited metabolic disorder 1808
            amino acid metabolic disorder 337
              Glutathione Synthetase Deficiency 1
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