Search Ontology:
Human Disease

primary hyperoxaluria type 2

Term ID
DOID:0111671
Synonyms
  • D-glycerate dehydrogenase deficiency
  • glyoxylate reductase/hydroxypyruvate reductase deficiency
  • HP2
  • L-glyceric aciduria
  • oxalosis II
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. (2)
References
Ontology
Human Disease   ( DOID:0111671 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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