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DO Term : inclusion body myopathy with Paget disease of bone and frontotemporal dementia [DOID:0050881] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein.
  • synonyms:
  • OMIM:PS167320,
  • MESH:C563476,
  • IBMPFD,
  • PS167320,
  • ORDO:52430,
  • inclusion body myopathy with Paget's disease of bone and frontotemporal dementia
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