Human genes for X-linked dominant hypophosphatemic rickets
X-linked dominant hypophosphatemic rickets [DOID:0050445]
A rickets 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: X-linked dominant hypophosphatemic rickets, DOID:0050445, Xlinked dominant hypophosphatemic rickets, X-linked dominant hypophosphatemic ricketses, Hypophosphatemia, Vitamin D-Resistant Rickets ...