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inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Summary
- Synonym
-
- IBMPFD
- inclusion body myopathy with Paget's disease of bone and frontotemporal dementia
- Definition
- A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein.
- Super Class
- syndrome
External Links
- Disease Ontology
- DOID:0050881
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P48740 | Mannan-binding lectin serine protease 1 |
