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inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2
Summary
- Synonym
-
- IBMPFD2
- MSP2
- multisystem proteinopathy 2
- Definition
- An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2.
- Super Class
- autosomal dominant disease inclusion body myopathy with Paget disease of bone and frontotemporal dementia
External Links
- Disease Ontology
- DOID:0111384
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012444 | Brain atrophy |
| HP:0012548 | Fatty replacement of skeletal muscle |
