| Metadata | |
|---|---|
| ID | DOID:0050881 |
| Name | inclusion body myopathy with Paget disease of bone and frontotemporal dementia |
| Definition | A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein. http://omim.org/entry/167320, https://www.ncbi.nlm.nih.gov/pubmed/19380227, https://www.ncbi.nlm.nih.gov/pubmed/21304887, https://www.ncbi.nlm.nih.gov/pubmed/21892620 |
| Xrefs | |
| Subsets |
DO_FlyBase_slim DO_rare_slim |
| Synonyms |
IBMPFD [EXACT] inclusion body myopathy with Paget's disease of bone and frontotemporal dementia [EXACT] |
| Parent Relationships |
is_a syndrome |