Term Name: | inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0111385] ( DOID:0111385 ) |