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X-linked hypophosphatemic rickets (DOID:0050445)
Synonyms: Hypophosphatemia, Vitamin D-Resistant Rickets; hypophosphatemic rickets X-linked dominant; Rickets, Vitamin D-Resistant; Vitamin D-Resistant Rickets, X-Linked; X-linked hypophosphatemia
Alt IDs: OMIM:300554, OMIM:307800, MESH:D053098, NCI:C85234, UMLS_CUI:C0733682, UMLS_CUI:C1845168, UMLS_CUI:C3540852
Definition: 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.

Disease References using Mouse Models (14)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/18/2017
MGI 6.08
The Jackson Laboratory