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Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 3

Disease ID: disease_node_20026

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DbxrefMIM:615424
SubclassofDOID_0050736, DOID_0050881
Data SourceDOID
SynonymsIBMPFD3, MSP3, multisystem proteinopathy 3
Doid Labelinclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3
Doid DescriptionAn 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.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_20026
Doid IdDOID_0111386
LabelInclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 3