Disease-gene associations mined from literature

Human genes for X-linked hypophosphatemic rickets

X-linked hypophosphatemic rickets [DOID:0050445]

A rickets that results 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 hypophosphatemic rickets,  DOID:0050445,  Xlinked hypophosphatemic rickets,  Hypophosphatemia, Vitamin D-Resistant Rickets,  Rickets, Vitamin D-Resistant ...

Linkouts:  OMIM #1 #2 #3 #4 #5