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DO Term : inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 [DOID:0111385] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3.
  • synonyms:
  • MSP1,
  • 167320,
  • multisystem proteinopathy 1,
  • OMIM:167320,
  • IBMPFD1
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