Term Name: | primary hyperoxaluria type 2 |
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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. |
Ontology: | Human Disease [DOID:0111671] ( DOID:0111671 ) |