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nephrolithiasis, X-linked recessive, with renal failure

Disease Summary
Associated Targets (1)


Uniprot Description An X-linked recessive renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Nephrolithiasis type 1 presents with hypercalciuria, nephrocalcinosis, renal stones and renal insufficiency. Patients lack urinary acidification defects, rickets, and osteomalacia.
Mondo Term and Equivalent IDs
MONDO:0010687:  nephrolithiasis, X-linked recessive, with renal failure