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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
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      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 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              muscular disease 1283
                muscle tissue disease 832
                  myopathy 666
                    myositis 78
                      inclusion body myositis 24
                        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
paths to the root