Metadata | |
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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 inclusion body myopathy with Paget disease of bone and frontotemporal dementia |