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Human Disease

hyperphosphatemia

Term ID
DOID:0050459
Synonyms
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
References
  • MESH:D054559
  • NCI:C113750
  • SNOMEDCT_US_2023_03_01:20165001
  • UMLS_CUI:C0085681
Ontology
Human Disease   ( DOID:0050459 )
Relationships
is a type of
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Genes Involved
Zebrafish Models