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DO Term : primary hyperoxaluria type 2 [DOID:0111671] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • D-glycerate dehydrogenase deficiency,
  • MESH:C536415,
  • HP2,
  • UMLS_CUI:C0268165,
  • SNOMEDCT_US_2023_03_01:40951006,
  • L-glyceric aciduria,
  • 260000,
  • glyoxylate reductase/hydroxypyruvate reductase deficiency,
  • NCI:C123213,
  • GARD:2836,
  • OMIM:260000,
  • ORDO:93599,
  • oxalosis II
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