| Metadata | |
|---|---|
| ID | DOID:0051099 |
| PURL | http://purl.obolibrary.org/obo/DOID_0051099 Copy |
| Name | Paget 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. https://pubmed.ncbi.nlm.nih.gov/33599011/ |
| Xrefs | |
| Synonyms |
Paget's disease of bone 7 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some (Middle age onset or Young adult onset) |