| Metadata | |
|---|---|
| ID | DOID:0111386 |
| Name | inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 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. https://www.ncbi.nlm.nih.gov/pubmed/23455423 |
| Xrefs | |
| Synonyms |
IBMPFD3 [EXACT] MSP3 [EXACT] multisystem proteinopathy 3 [EXACT] |
| Parent Relationships |
is_a inclusion body myopathy with Paget disease of bone and frontotemporal dementia |