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inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1
Summary
- Synonym
-
- IBMPFD1
- MSP1
- multisystem proteinopathy 1
- Definition
- An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3.
- Super Class
- autosomal dominant disease inclusion body myopathy with Paget disease of bone and frontotemporal dementia
External Links
- Disease Ontology
- DOID:0111385
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0010628 | Facial palsy |
| HP:0003547 | Shoulder girdle muscle weakness |
| HP:0002273 | Tetraparesis |
| HP:0003724 | Shoulder girdle muscle atrophy |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0003690 | Limb muscle weakness |
| HP:0006913 | Frontal cortical atrophy |
| HP:0002644 | Abnormal pelvic girdle bone morphology |
| HP:0009073 | Progressive proximal muscle weakness |
| HP:0003418 | Back pain |
