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hypophosphatemic rickets with hypercalciuria, hereditary
Pathology:
- diminished renal phosphate reabsorption
- rickets
Genetics:
- autosomal recessive
- associated with defects in SLC34A3
Laboratory:
- serum phosphate: hypophosphatemia
- increased serum 1,25-dihydroxyvitamin D3
- increased 24 hour urinary Ca+2 excretion
General
hereditary rickets
Database Correlations
OMIM 241530
References
OMIM :accession 241530