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Hypophosphatemic Rickets, X-Linked Dominant

"Hypophosphatemic Rickets, X-Linked Dominant" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

An X-linked disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. This disorder is caused by mutations in PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE.


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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.