| Metadata | |
|---|---|
| ID | DOID:0111384 |
| Name | inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 |
| Definition | An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2. https://www.ncbi.nlm.nih.gov/pubmed/23455423 |
| Xrefs | |
| Synonyms |
IBMPFD2 [EXACT] MSP2 [EXACT] multisystem proteinopathy 2 [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 |