X-linked dominant hypophosphatemic rickets

Term ID

DOID:0050445

Synonyms

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

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. (2)

References

• MESH:D053098
• NCI:C85234
• OMIM:307800
• UMLS_CUI:C0733682
• UMLS_CUI:C1845168
• UMLS_CUI:C3540852

Ontology

Human Disease   ( DOID:0050445 )