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X-linked dominant hypophosphatemic rickets
Summary
- Synonym
-
- Hypophosphatemia, Vitamin D-Resistant Rickets
- Vitamin D-Resistant Rickets, X-Linked
- X-linked hypophosphatemia
- hypophosphatemic rickets X-linked dominant
- 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.
- Super Class
- X-linked dominant disease rickets
External Links
- Disease Ontology
- DOID:0050445
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
Related Genes
