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Disease Ontology Browser
X-linked hypophosphatemic rickets (DOID:0050445)
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Synonyms: Hypophosphatemia, Vitamin D-Resistant Rickets; hypophosphatemic rickets X-linked dominant; Vitamin D-Resistant Rickets, X-Linked; X-linked dominant hypophosphatemic rickets; X-linked hypophosphatemia
Alt IDs: OMIM:307800, MESH:D053098, NCI:C85234, UMLS_CUI:C0733682, UMLS_CUI:C1845168, UMLS_CUI:C3540852
Definition: A rickets that 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.

Disease References using Mouse Models (21)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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09/30/2025
MGI 6.24 		The Jackson Laboratory