Term Name: | inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 |
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Synonyms: | IBMPFD3, MSP3, multisystem proteinopathy 3 |
Definition: | An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.13. |
Ontology: | Human Disease [DOID:0111386] ( DOID:0111386 ) |