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Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 2

Disease ID: disease_node_20028

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DbxrefMIM:615422
SubclassofDOID_0050736, DOID_0050881
Data SourceDOID
SynonymsIBMPFD2, MSP2, multisystem proteinopathy 2
Doid Labelinclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2
Doid DescriptionAn inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_20028
Doid IdDOID_0111384
LabelInclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 2