Term Name: | X-linked dominant hypophosphatemic rickets |
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Synonyms: | Hypophosphatemia, Vitamin D-Resistant Rickets, hypophosphatemic rickets X-linked dominant, Vitamin D-Resistant Rickets, X-Linked, X-linked hypophosphatemia |
Definition: | 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. |
Ontology: | Human Disease [DOID:0050445] ( DOID:0050445 ) |