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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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;   MSP1;   inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1;   multisystem proteinopathy 1
 primary_id: OMIM:167320
 xref: NCI:C122663


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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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 1 OMIM
ClinVar		 PMID:7182974 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 More... NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15615
    syndrome 10115
      inclusion body myopathy with Paget disease of bone and frontotemporal dementia 6
        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 15615
    disease of anatomical entity 15198
      nervous system disease 13267
        peripheral nervous system disease 4053
          neuropathy 3856
            neuromuscular disease 3025
              muscular disease 2135
                muscle tissue disease 1291
                  myopathy 1003
                    myositis 85
                      inclusion body myositis 30
                        inclusion body myopathy with Paget disease of bone and frontotemporal dementia 6
                          inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 1
paths to the root