Version: 8.1.0
Date: Fri Apr 18 2025
X-linked hypophosphatemic rickets
DOID:0050445
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

X-linked hypophosphatemic rickets

Definition
A rickets that has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.
Synonyms
  • Hypophosphatemia, Vitamin D-Resistant Rickets
  • hypophosphatemic rickets X-linked dominant
Cross References
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