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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:5-Oxoprolinase Deficiency
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Accession:DOID:9006099 term browser browse the term
Definition:5-Oxoprolinuria can be caused by genetic defects in either of 2 enzymes involved in the gamma-glutamyl cycle of glutathione metabolism: glutathione synthetase (GSS) or 5-oxoprolinase (OPLAH). GSS deficiency (266130) is best characterized as an inborn error of glutathione metabolism, but there is debate as to whether OPLAH deficiency represents a disorder or simply a biochemical condition with no adverse clinical effects because patients lack a consistent clinical picture apart from 5-oxoprolinuria. (OMIM)
Synonyms:exact_synonym: 5-alpha-oxoprolinase deficiency;   OPLAHD;   oxoprolinuria due to 5-oxoprolinase deficiency;   oxoprolinuria due to oxoprolinase deficiency
 primary_id: MESH:C535322
 alt_id: OMIM:260005
For additional species annotation, visit the Alliance of Genome Resources.


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5-Oxoprolinase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO ClinVar Annotator: match by OMIM:260005
ClinVar Annotator: match by term: 5-Oxoprolinase deficiency
OMIM
ClinVar
PMID:16199547 PMID:21651516 PMID:23430506 PMID:25741868 PMID:27477828 PMID:28492532 NCBI chr 7:117,353,951...117,394,205
Ensembl chr 7:117,353,786...117,369,159
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Nutritional and Metabolic Diseases 5514
      disease of metabolism 5514
        inherited metabolic disorder 2607
          amino acid metabolic disorder 448
            5-Oxoprolinase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          inherited metabolic disorder 2607
            amino acid metabolic disorder 448
              5-Oxoprolinase Deficiency 1
paths to the root