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DOID:0050445 - X-linked dominant hypophosphatemic rickets
Disease Ontology 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.
Synonyms: Hypophosphatemia, Vitamin D-Resistant Rickets, hypophosphatemic rickets X-linked dominant, Rickets, Vitamin D-Resistant, Vitamin D-Resistant Rickets, X-Linked, X-linked hypophosphatemia
Xenbase Genes
:
phex,
clcn5
| MONDO:0010619 - X-linked dominant hypophosphatemic rickets |
| MIM:300554 - HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE; XLHRR |
| MIM:307800 - HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHRD |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
rickets (is_a),
X-linked dominant disease (is_a)