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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:Ribose 5-Phosphate Isomerase Deficiency
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Accession:DOID:9005223 term browser browse the term
Synonyms:exact_synonym: DEFICIENCY OF RIBOSE-5-PHOSPHATE ISOMERASE
 primary_id: MESH:C563212
 alt_id: OMIM:608611
For additional species annotation, visit the Alliance of Genome Resources.



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Ribose 5-Phosphate Isomerase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpia ribose 5-phosphate isomerase A ISO ClinVar Annotator: match by term: Deficiency of ribose-5-phosphate isomerase OMIM
ClinVar
PMID:10589548 PMID:14988808 PMID:20499043 PMID:25741868 PMID:28492532 More... NCBI chr 4:102,723,712...102,749,374
Ensembl chr 4:102,723,712...102,749,355
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        peripheral nervous system disease 2993
          polyneuropathy 113
            Ribose 5-Phosphate Isomerase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          inherited metabolic disorder 4663
            carbohydrate metabolic disorder 2561
              Ribose 5-Phosphate Isomerase Deficiency 1
paths to the root