X-linked hypophosphatemia

created [InstanceEdit:5651956] Jassal, Bijay, 2014-11-26
databaseName DOID
dbId 5651943
definition A metal metabolism disorder that results from the inactivation of hormone-like substances (phosphatonins) that promote phosphate excretion which has_material_basis_in a X-linked mutation in the PHEX gene.
displayName X-linked hypophosphatemia
identifier 0050445
name
  • X-linked hypophosphatemia
referenceDatabase [ReferenceDatabase:1247631] DOID
schemaClass Disease
synonym
  • Rickets, Hypophosphatemic
  • hypophosphatemic rickets X-linked dominant
  • X-Linked Hypophosphatemia
  • Vitamin D-Resistant Rickets, X-Linked
  • Rickets, Vitamin D-Resistant
  • Hypophosphatemia, Vitamin D-Resistant Rickets
url https://www.ebi.ac.uk/ols4/ontologies/doid/terms?obo_id=DOID:0050445
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