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nephrolithiasis type 1
Pathology:
- renal disease belonging to the 'dent disease complex'
- hypercalciuria, nephrocalcinosis, renal stones & renal insufficiency
- urinary acidification apparently intact
- rickets, & osteomalacia
Genetics:
- X-linked recessive
- associated with defects in CLCN5
General
hereditary nephrolithiasis
Dent disease complex
Database Correlations
OMIM 310468
References
OMIM :accession 310468