Term Name: inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3
Synonyms: IBMPFD3, MSP3, multisystem proteinopathy 3
Definition: An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.13.
Ontology: Human Disease [DOID:0111386]   ( DOID:0111386 )

Relationships
is a type of: autosomal dominant disease inclusion body myopathy with Paget disease of bone and frontotemporal dementia