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hypophosphatemic rickets, autosomal recessive type 1
Pathology:
- rickets
- osteomalacia
Genetics:
- autosomal recessive
- associated with defects in DMP1
Laboratory:
- elevated serum FGF23
- serum phosphate: hypophosphatemia
General
hypophosphatemic rickets, autosomal recessive
Database Correlations
OMIM 241520
References
OMIM :accession 241520