FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term primary hyperoxaluria type 2 ID (Ontology) DOID:0111671 (Human Disease)
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.
Also Known As "D-glycerate dehydrogenase deficiency" ; "glyoxylate reductase/hydroxypyruvate reductase deficiency" ; "HP2" (for all, see Synonyms field below)
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 primary hyperoxaluria type 2       4
 for disease ribbon | primary hyperoxaluria type 2       4
 model of | primary hyperoxaluria type 2       4
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  carbohydrate metabolic disorder
   |__primary hyperoxaluria
       |__primary hyperoxaluria type 2  4 rec.
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Synonyms
  • "D-glycerate dehydrogenase deficiency" EXACT
    "glyoxylate reductase/hydroxypyruvate reductase deficiency" EXACT
    "HP2" EXACT OMO:0003012
    "L-glyceric aciduria" EXACT
    "oxalosis II" EXACT
Secondary IDs
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GARD:2836
MESH:C536415
MIM:260000
NCI:C123213
ORDO:93599
SNOMEDCT_US_2023_03_01:40951006
UMLS_CUI:C0268165