| Metadata | |
|---|---|
| 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 autosomal dominant disease is_a inclusion body myopathy with Paget disease of bone and frontotemporal dementia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |