OBO ID: DOID:0050445
Term Name: X-linked dominant hypophosphatemic rickets Search Ontology:
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 X-linked dominant hypophosphatemic rickets PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PHEX Hypophosphatemic rickets, X-linked dominant 307800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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