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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 myositis
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Accession:DOID:3429 term browser browse the term
Definition:A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle. (DO)
Synonyms:exact_synonym: HIBM;   Hereditary Inclusion Body Myopathy;   IBM;   IBM-3;   Inclusion Body Myopathy, Sporadic;   inclusion body myopathy 3;   inclusion body myositides;   sporadic inclusion body myositis
 primary_id: MESH:D018979
 alt_id: OMIM:147421
 xref: GARD:3896;   ICD10CM:G72.41;   ICD9CM:359.71;   NCI:C84786;   ORDO:611
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
inclusion body myositis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:limb muscle: RGD PMID:15772970 RGD:8661727
G Cd36 CD36 molecule ISO mRNA:increased expression:skeletal muscle RGD PMID:17572512 RGD:6893508 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Clu clusterin ISO RGD PMID:15912881 RGD:1626306 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Csnk1a1 casein kinase 1, alpha 1 ISO protein:increased expression:muscle: RGD PMID:18191026 RGD:10395231 NCBI chr18:56,887,722...56,910,610
Ensembl chr18:56,887,354...56,918,345
JBrowse link
G Dag1 dystroglycan 1 ISO RGD PMID:14972325 RGD:11537409 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
G Fas Fas cell surface death receptor ISO mRNA,protein:increased expression:muscle RGD PMID:9450780 RGD:12903959 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inclusion body myositis
CTD
ClinVar
PMID:17261181 PMID:25741868 NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416
JBrowse link
G Myh2 myosin heavy chain 2 ISO IBM3, OMIM:605637, DNA:point mutation:exon:E706K
ClinVar Annotator: match by term: Inclusion body myopathy 3
ClinVar PMID:20418530 PMID:23388406 PMID:24033266 PMID:24193343 PMID:28492532, PMID:11114175 RGD:1600532 NCBI chr10:53,711,895...53,738,164
Ensembl chr10:53,713,938...53,848,347
JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:11837748 RGD:1581257 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tubg1 tubulin, gamma 1 ISO RGD PMID:15912881 RGD:1626306 NCBI chr10:89,030,865...89,037,455
Ensembl chr10:89,030,865...89,037,455
JBrowse link
G Vcp valosin-containing protein ISO IBMPFD, OMIM:167320 RGD PMID:15034582 RGD:1599735 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
GNE myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: GNE myopathy
ClinVar Annotator: match by term: Nonaka myopathy
ClinVar Annotator: match by term: Inclusion body myopathy 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:600737
ClinVar Annotator: match by OMIM:605820
OMIM
ClinVar
CTD
PMID:2473753 PMID:2808337 PMID:10330343 PMID:10356312 PMID:11326336 PMID:11528398 PMID:11916006 PMID:12177386 PMID:12325084 PMID:12409274 PMID:12473753 PMID:12473769 PMID:12473780 PMID:12497639 PMID:12743242 PMID:12811782 PMID:12913203 PMID:14678807 PMID:14707127 PMID:14733963 PMID:14972325 PMID:15136692 PMID:15146476 PMID:15147877 PMID:15330759 PMID:15670773 PMID:15793292 PMID:15834044 PMID:15987957 PMID:16112887 PMID:16372135 PMID:16503389 PMID:16503651 PMID:16810679 PMID:17098358 PMID:17164266 PMID:17261181 PMID:17698786 PMID:17704511 PMID:18383535 PMID:18555875 PMID:19078806 PMID:19596068 PMID:19841673 PMID:19917666 PMID:20030229 PMID:20059379 PMID:20175955 PMID:20300792 PMID:20301439 PMID:20346669 PMID:21131200 PMID:21294420 PMID:21307865 PMID:21436238 PMID:21517694 PMID:21708040 PMID:21873062 PMID:21910480 PMID:22196754 PMID:22231866 PMID:22343627 PMID:22507750 PMID:22883483 PMID:23127962 PMID:23278550 PMID:23437777 PMID:23496965 PMID:23549799 PMID:23558691 PMID:23806237 PMID:24005727 PMID:24027297 PMID:24033266 PMID:24136589 PMID:24474513 PMID:24695763 PMID:24707269 PMID:24737350 PMID:24796702 PMID:25002140 PMID:25046369 PMID:25061177 PMID:25123033 PMID:25182749 PMID:25257349 PMID:25303967 PMID:25422667 PMID:25617006 PMID:25741868 PMID:25966635 PMID:25978849 PMID:25986339 PMID:26161358 PMID:26231298 PMID:26467025 PMID:26627873 PMID:26968811 PMID:26980148 PMID:27363342 PMID:27457812 PMID:27479822 PMID:27535533 PMID:27829678 PMID:27858732 PMID:27919547 PMID:28099567 PMID:28320138 PMID:28403181 PMID:28492532 PMID:28641925 PMID:28717665 PMID:28895049 PMID:29307446 PMID:29406958 PMID:29480215 PMID:30390020 PMID:30990900 PMID:31064749 PMID:31286697 NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416
JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Nonaka myopathy ClinVar
OMIM
PMID:12374763 PMID:17129171 PMID:23417734 PMID:26208961 PMID:26627873 PMID:28492532 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
JBrowse link
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 OMIM
ClinVar
PMID:7182974 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 PMID:16984901 PMID:17329348 PMID:17763460 PMID:17889967 PMID:18341608 PMID:19225410 PMID:19237541 PMID:19364651 PMID:19704082 PMID:20008565 PMID:20104022 PMID:20512113 PMID:20604808 PMID:21145000 PMID:21249466 PMID:21320982 PMID:21387114 PMID:21816654 PMID:21822278 PMID:21920633 PMID:21984748 PMID:22078486 PMID:22137929 PMID:22270372 PMID:22572540 PMID:22686199 PMID:22898872 PMID:22900631 PMID:22909335 PMID:23029473 PMID:23056506 PMID:23152587 PMID:23169451 PMID:23333620 PMID:23498975 PMID:24123792 PMID:24196964 PMID:24829604 PMID:25125609 PMID:25326637 PMID:25388089 PMID:25492614 PMID:25617006 PMID:25741868 PMID:25775548 PMID:26105173 PMID:26467025 PMID:26555887 PMID:26627873 PMID:27165006 PMID:27226613 PMID:27768726 PMID:28130640 PMID:28360103 PMID:28492532 PMID:28692196 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 ClinVar
OMIM
PMID:11891683 PMID:23455423 PMID:25741868 PMID:28492532 NCBI chr 4:81,237,496...81,241,281
Ensembl chr 4:81,237,496...81,241,282
JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3
ClinVar Annotator: match by OMIM:615424
OMIM
ClinVar
PMID:20116073 PMID:23455423 PMID:25616961 PMID:25741868 NCBI chr 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585
JBrowse link
inclusion body myopathy with Paget disease of bone and frontotemporal dementia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egf epidermal growth factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585
JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO DNA:missense mutation:cds:p.D290V (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:23455423 RGD:10395280 NCBI chr 4:81,237,496...81,241,281
Ensembl chr 4:81,237,496...81,241,282
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vcp valosin-containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25884947 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
proximal myopathy and ophthalmoplegia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819
JBrowse link
G Gas7 growth arrest specific 7 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:54,010,723...54,240,805
Ensembl chr10:54,126,486...54,236,476
JBrowse link
G Glp2r glucagon-like peptide 2 receptor ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:54,260,290...54,323,839
Ensembl chr10:54,260,290...54,323,439
JBrowse link
G Myh1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:53,740,841...53,764,610
Ensembl chr10:53,713,938...53,848,347
JBrowse link
G Myh13 myosin heavy chain 13 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:53,921,077...53,927,553 JBrowse link
G Myh2 myosin heavy chain 2 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar Annotator: match by term: Inclusion body myopathy 3
ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant
OMIM
ClinVar
PMID:11114175 PMID:11889243 PMID:15548556 PMID:15741996 PMID:16130113 PMID:20418530 PMID:22349865 PMID:23388406 PMID:23489661 PMID:24033266 PMID:24193343 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30662633 NCBI chr10:53,711,895...53,738,164
Ensembl chr10:53,713,938...53,848,347
JBrowse link
G Myh4 myosin heavy chain 4 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:53,778,456...53,801,605
Ensembl chr10:53,713,938...53,848,347
JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
JBrowse link
G Rcvrn recoverin ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:54,246,250...54,253,996
Ensembl chr10:54,246,250...54,253,996
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        muscular disease 1218
          myositis 78
            inclusion body myositis 24
              Desmin Storage Myopathy 0
              GNE myopathy 2
              inclusion body myopathy with Paget disease of bone and frontotemporal dementia + 5
              proximal myopathy and ophthalmoplegia 10
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              muscular disease 1218
                muscle tissue disease 829
                  myopathy 683
                    myositis 78
                      inclusion body myositis 24
                        Desmin Storage Myopathy 0
                        GNE myopathy 2
                        inclusion body myopathy with Paget disease of bone and frontotemporal dementia + 5
                        proximal myopathy and ophthalmoplegia 10
paths to the root