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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;   RDO:0012560
 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, PMID:30088433, PMID:31056085 NCBI chr 4:98,568,028...98,593,664
Ensembl chr 4:98,568,028...98,593,664
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        peripheral nervous system disease 2471
          polyneuropathy 92
            Ribose 5-Phosphate Isomerase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          inherited metabolic disorder 2222
            carbohydrate metabolic disorder 386
              Ribose 5-Phosphate Isomerase Deficiency 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.