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Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 1

Disease ID: disease_node_20027

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DbxrefMIM:167320
SubclassofDOID_0050736, DOID_0050881
Data SourceDOID
SynonymsIBMPFD1, MSP1, multisystem proteinopathy 1
Doid Labelinclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1
Doid DescriptionAn inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_20027
Doid IdDOID_0111385
LabelInclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 1