Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0050445 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models