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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 GRHPR on chromosome 9p13.2. (DO)
Synonyms:exact_synonym: D-glycerate dehydrogenase deficiency;   Glyoxylate reductase-hydroxypyruvate reductase deficiency;   HP2;   Hyperoxaluria, Primary, Type II;   L-glyceric aciduria;   Oxalosis 2;   glyceric aciduria;   oxalosis II;   oxalosis IIglyoxylate reductase/hydroxypyruvate reductase deficiency
 primary_id: MESH:C536415
 alt_id: OMIM:260000
 xref: GARD:2836;   NCI:C123213;   ORDO:93599
For additional species annotation, visit the Alliance of Genome Resources.



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primary hyperoxaluria type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by OMIM:260000
ClinVar Annotator: match by term: Primary hyperoxaluria, type II
OMIM
ClinVar
PMID:10484776 PMID:11030416 PMID:11477177 PMID:12185464 PMID:14635115 More... NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    Nutritional and Metabolic Diseases 5591
      disease of metabolism 5591
        inherited metabolic disorder 2661
          carbohydrate metabolic disorder 532
            primary hyperoxaluria 19
              primary hyperoxaluria type 2 1
Path 2
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        genetic disease 9072
          inherited metabolic disorder 2661
            carbohydrate metabolic disorder 532
              primary hyperoxaluria 19
                primary hyperoxaluria type 2 1
paths to the root