| Metadata | |
|---|---|
| ID | DOID:0050445 |
| Name | X-linked dominant hypophosphatemic rickets |
| 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. http://en.wikipedia.org/wiki/X-linked_hypophosphatemia, https://rarediseases.info.nih.gov/diseases/12943/x-linked-hypophosphatemia |
| Xrefs | |
| Subsets |
NCIthesaurus |
| Synonyms |
Hypophosphatemia, Vitamin D-Resistant Rickets [EXACT] hypophosphatemic rickets X-linked dominant [EXACT] Vitamin D-Resistant Rickets, X-Linked [EXACT] X-linked hypophosphatemia [EXACT] |
| Parent Relationships |
is_a rickets |