Visualize Submit Comment
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

MIM:615422

Synonyms

IBMPFD2 [EXACT]

MSP2 [EXACT]

multisystem proteinopathy 2 [EXACT]

Parent Relationships

is_a inclusion body myopathy with Paget disease of bone and frontotemporal dementia

is_a autosomal dominant disease

Add an item to the term tracker