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hypophosphatemic rickets, autosomal recessive type 2
Pathology:
- proximal renal tubule function that results in phosphate loss
- rickets
- osteomalacia
Genetics:
- autosomal recessive
- associated with defects in DMP1
Clinical manifestations:
- bone pain
- bone fractures
- growth abnormalities
Laboratory:
- serum phosphate: hypophosphatemia
Management:
- unresponsive to vitamin D
General
hypophosphatemic rickets, autosomal recessive
Database Correlations
OMIM 613312
References
OMIM :accession 613312