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ONTOLOGY REPORT - ANNOTATIONS


Term:inclusion body myopathy with Paget disease of bone and frontotemporal dementia
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Accession:DOID:0050881 term browser browse the term
Definition: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. (DO)
Synonyms:exact_synonym: IBMPFD;   Inclusion Body Myopathy with Early-Onset Paget Disease of Bone and-or Frontotemporal Dementia;   Inclusion Body Myopathy with Paget Disease of Bone and-or Frontotemporal Dementia;   Lower Motor Neuron Degeneration With Paget-Like Bone Disease;   Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone;   Pagetoid Amyotrophic Lateral Sclerosis;   Pagetoid Neuroskeletal Syndrome;   inclusion body myopathy with Paget's disease of bone and frontotemporal dementia
 primary_id: MESH:C563476
 alt_id: RDO:0012721
 xref: OMIM:PS167320;   ORDO:52430
For additional species annotation, visit the Alliance of Genome Resources.


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inclusion body myopathy with Paget disease of bone and frontotemporal dementia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Egf epidermal growth factor JBrowse link 2 68,820,616 68,895,537 RGD:10059681
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 JBrowse link 7 144,865,302 144,871,592 RGD:11554173
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 JBrowse link 4 81,237,496 81,241,281 RGD:10395280
RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10059681
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:11554173
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
RGD:8554872
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 JBrowse link 4 81,237,496 81,241,281 RGD:8554872
RGD:7240710
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 JBrowse link 7 144,865,302 144,871,592 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      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
        inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 1
        inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        peripheral nervous system disease 2134
          neuropathy 1956
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    muscular dystrophy 278
                      limb-girdle muscular dystrophy 122
                        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
                          inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 1
                          inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.