Metadata | |
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ID | DOID:0111385 |
Name | inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 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. https://www.ncbi.nlm.nih.gov/pubmed/15034582 |
Xrefs | |
Synonyms |
IBMPFD1 [EXACT] MSP1 [EXACT] multisystem proteinopathy 1 [EXACT] |
Parent Relationships |
is_a inclusion body myopathy with Paget disease of bone and frontotemporal dementia |