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skos:definition |
MSH: A genetic disorder characterized by excretion of large amounts of OXALATES in urine; NEPHROLITHIASIS; NEPHROCALCINOSIS; early onset of RENAL FAILURE; and often a generalized deposit of CALCIUM OXALATE. There are subtypes classified by the enzyme defects in glyoxylate metabolism.,CSP: either of two genetic disorders characterized by urinary excretion of large amounts of oxalate, with nephrolithiasis, nephrocalcinosis, early onset of renal failure, and often a generalized deposit of calcium oxalate, resulting from a defect in glyoxalate metabolism.
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