Search Ontology:
Human Disease
X-linked dominant hypophosphatemic rickets
- Term ID
- DOID:0050445
- Synonyms
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- 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
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- MESH:D053098
- MIM:307800
- NCI:C85234
- UMLS_CUI:C0733682
- UMLS_CUI:C1845168
- UMLS_CUI:C3540852
- Ontology
- Human Disease ( DOID:0050445 )
- is a type of
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