| Term Name: | Paget disease of bone 7 |
|---|---|
| Synonyms: | Paget's disease of bone 7 |
| Definition: | A Paget disease of bone that is characterized by persistent and long-lasting active bone resorption, resulting in severe skeletal deformities and high levels of serum alkaline phosphatase and bone turnover markers and that has_material_basis_in heterozygous mutation in the PFN1 gene on chromosome 17p13. |
| Ontology: | Human Disease [DOID:0051099] ( DOID:0051099 ) |