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 )