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Human Disease
Paget disease of bone 7
- Term ID
- DOID:0051099
- 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. https://pubmed.ncbi.nlm.nih.gov/33599011/
- References
- Ontology
- Human Disease ( DOID:0051099 )
Other Pages
Genes Involved
Zebrafish Models