FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term X-linked hypophosphatemic rickets ID (Ontology) DOID:0050445 (Human Disease)
Definition A rickets that 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.
Also Known As "Hypophosphatemia, Vitamin D-Resistant Rickets" ; "hypophosphatemic rickets X-linked dominant" ; "Vitamin D-Resistant Rickets, X-Linked" (for all, see Synonyms field below)
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 Genes
 X-linked hypophosphatemic rickets       9
 for disease ribbon | X-linked hypophosphatemic rickets       9
 model of | X-linked hypophosphatemic rickets       9
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked dominant disease__
bone remodeling disease        |
 |__rickets____________________|
                               X-linked hypophosphatemic rickets  9 rec.
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Is a X-linked dominant disease
rickets
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Synonyms
  • "Hypophosphatemia, Vitamin D-Resistant Rickets" EXACT
    "hypophosphatemic rickets X-linked dominant" EXACT
    "Vitamin D-Resistant Rickets, X-Linked" EXACT
    "X-linked dominant hypophosphatemic rickets" EXACT
    "X-linked hypophosphatemia" EXACT
Secondary IDs
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GARD:12943
MESH:D053098
MIM:307800
NCI:C85234
UMLS_CUI:C0733682
UMLS_CUI:C1845168
UMLS_CUI:C3540852