X-linked dominant hypophosphatemic rickets (DOID:0050445)
Alliance: disease page
Synonyms: Hypophosphatemia, Vitamin D-Resistant Rickets; hypophosphatemic rickets X-linked dominant; Vitamin D-Resistant Rickets, X-Linked; X-linked hypophosphatemia
Alt IDs: OMIM:307800, MESH:D053098, NCI:C85234, UMLS_CUI:C0733682, UMLS_CUI:C1845168, UMLS_CUI:C3540852
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.