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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:0010639 | Elevated alkaline phosphatase of bone origin |
| HP:0003551 | Difficulty climbing stairs |
| HP:0003749 | Pelvic girdle muscle weakness |
| HP:0001288 | Gait disturbance |
| HP:0003693 | Distal amyotrophy |
| HP:0008946 | Pelvic girdle amyotrophy |
| HP:0003198 | Myopathy |
