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hypophosphatemic nephrolithiasis/osteoporosis
Pathology:
- hypophosphatemia results from idiopathic renal phosphate loss leading to hypophosphatemic nephrolithiasis & hypophosphatemic osteoporosis
Genetics:
- associated with defects in SLC9A3R1 (type 2)
Laboratory:
- serum phosphate: hypophosphatemia
General
genetic disease of the kidney
Database Correlations
OMIM 612287
References
OMIM :accession 612287