primary hyperoxaluria type 2 (DOID:0111671)
Alliance: disease page
Synonyms: D-glycerate dehydrogenase deficiency; glyoxylate reductase/hydroxypyruvate reductase deficiency; HP2; L-glyceric aciduria; oxalosis II
Alt IDs: OMIM:260000, MESH:C536415, NCI:C123213, ORDO:93599, UMLS_CUI:C0268165
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.