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ONTOLOGY REPORT - ANNOTATIONS


Term:inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1
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Accession:DOID:0111385 term browser browse the term
Definition: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. (DO)
Synonyms:exact_synonym: IBMPFD1;   Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1;   MSP1;   multisystem proteinopathy 1
 primary_id: OMIM:167320
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inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      inclusion body myopathy with Paget disease of bone and frontotemporal dementia 5
        inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        peripheral nervous system disease 2164
          neuropathy 1988
            neuromuscular disease 1559
              muscular disease 1002
                muscle tissue disease 695
                  myopathy 559
                    muscular dystrophy 279
                      limb-girdle muscular dystrophy 121
                        inclusion body myopathy with Paget disease of bone and frontotemporal dementia 5
                          inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 1
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