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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:primary hyperoxaluria type 2
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Accession:DOID:0111671 term browser browse the term
Definition:A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2. (DO)
Synonyms:exact_synonym: D-glycerate dehydrogenase deficiency;   HP2;   L-glyceric aciduria;   glyceric aciduria;   glyoxylate reductase-hydroxypyruvate reductase deficiency;   oxalosis 2;   oxalosis II;   primary hyperoxaluria type II
 primary_id: MESH:C536415
 alt_id: MIM:260000
 xref: GARD:2836;   NCI:C123213;   ORDO:93599


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Path 1
Term Annotations click to browse term
  disease 19154
    Nutritional and Metabolic Diseases 8558
      disease of metabolism 8558
        inherited metabolic disorder 6644
          carbohydrate metabolic disorder 3437
            primary hyperoxaluria 18
              primary hyperoxaluria type 2 1
Path 2
Term Annotations click to browse term
  disease 19154
    Developmental Disease 14697
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13758
        genetic disease 13375
          inherited metabolic disorder 6644
            carbohydrate metabolic disorder 3437
              primary hyperoxaluria 18
                primary hyperoxaluria type 2 1
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