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Summary Literature (1)
DOID:0050445 - X-linked hypophosphatemic rickets


Disease Ontology 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.

Synonyms: Hypophosphatemia, Vitamin D-Resistant Rickets, Rickets, Vitamin D-Resistant, Vitamin D-Resistant Rickets, X-Linked, X-linked hypophosphatemia, hypophosphatemic rickets X-linked dominant

Xenbase Genes : phex, clcn5

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010619 - X-linked dominant hypophosphatemic rickets

OMIM:
OMIM:300554 - HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
OMIM:307800 - HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHR

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): rickets (is_a)