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ONTOLOGY REPORT - ANNOTATIONS


Term:inclusion body myositis
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Accession:DOID:3429 term browser browse the term
Definition:Progressive myopathies characterized by the presence of inclusion bodies on muscle biopsy. Sporadic and hereditary forms have been described. The sporadic form is an acquired, adult-onset inflammatory vacuolar myopathy affecting proximal and distal muscles. Familial forms usually begin in childhood and lack inflammatory changes. Both forms feature intracytoplasmic and intranuclear inclusions in muscle tissue. (Adams et al., Principles of Neurology, 6th ed, pp1409-10)
Synonyms:exact_synonym: HIBM;   Hereditary Inclusion Body Myopathy;   IBM;   IBM-3;   Inclusion Body Myopathy, Sporadic;   Inclusion Body Myositides;   Sporadic Inclusion Body Myositis;   inclusion body myopathy 3
 primary_id: MESH:D018979
 alt_id: OMIM:147421;   RDO:0001540
 xref: ICD10CM:G72.41;   ICD9CM:359.71;   NCI:C84786;   ORDO:611
For additional species annotation, visit the Alliance of Genome Resources.


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inclusion body myositis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccr2 C-C motif chemokine receptor 2 RGD:8661727
G Cd36 CD36 molecule JBrowse link 4 14,150,309 14,191,498 RGD:6893508
G Clu clusterin JBrowse link 15 42,626,612 42,665,858 RGD:1626306
G Csnk1a1 casein kinase 1, alpha 1 JBrowse link 18 56,887,722 56,910,610 RGD:10395231
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:11537409
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:12903959
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase JBrowse link 5 59,511,738 59,553,421 RGD:11554173
RGD:8554872
G Myh1 myosin heavy chain 1 JBrowse link 10 53,740,841 53,764,610 RGD:8554872
G Myh2 myosin heavy chain 2 JBrowse link 10 53,711,895 53,738,164 RGD:1600532
RGD:8554872
RGD:13592920
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:1581257
G Tubg1 tubulin, gamma 1 JBrowse link 10 89,030,865 89,037,455 RGD:1626306
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:1599735
Inclusion Body Myopathy 3, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancg FA complementation group G JBrowse link 5 58,448,060 58,456,416 RGD:8554872
G Myh2 myosin heavy chain 2 JBrowse link 10 53,711,895 53,738,164 RGD:7240710
RGD:8554872
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:8554872
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
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
Nonaka Myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase JBrowse link 5 59,511,738 59,553,421 RGD:7240710
RGD:8554872
RGD:11554173
G Sqstm1 sequestosome 1 JBrowse link 10 35,704,728 35,716,316 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      musculoskeletal system disease 4302
        muscular disease 968
          myositis 66
            inclusion body myositis 18
              Desmin Storage Myopathy 0
              Inclusion Body Myopathy 3, Autosomal Dominant 3
              Nonaka Myopathy 2
              inclusion body myopathy with Paget disease of bone and frontotemporal dementia + 5
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        peripheral nervous system disease 2138
          neuropathy 1960
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    myositis 66
                      inclusion body myositis 18
                        Desmin Storage Myopathy 0
                        Inclusion Body Myopathy 3, Autosomal Dominant 3
                        Nonaka Myopathy 2
                        inclusion body myopathy with Paget disease of bone and frontotemporal dementia + 5
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.