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ID | DOID:0050459 |
Name | hyperphosphatemia |
Definition | A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnormal phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene. https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis |
Xrefs |
SNOMEDCT_US_2023_03_01:20165001 |
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