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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:polymyositis
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Accession:DOID:0080745 term browser browse the term
Definition:A myositis that is characterized by muscle weakness affecting both sides of your body. (DO)
Synonyms:exact_synonym: Multiple Myositis;   Myositides, Multiple;   idiopathic polymyositides;   idiopathic polymyositis;   polymyositides;   polymyositis ossificans
 narrow_synonym: Juvenile Polymyositis;   Scleroderma Polymyositis Overlap Syndrome
 primary_id: MESH:D017285
 alt_id: DOID:9007919
 xref: EFO:0003063;   EFO:1001988;   EFO:1001994;   GARD:7425


show annotations for term's descendants           Sort by:
polymyositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR2 C-C motif chemokine receptor 2 IEP protein:increased expression:limb muscle: RGD PMID:15772970 RGD:8661727 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940 		JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 IEP protein:expression:serum RGD PMID:22394569 RGD:9491763 NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20427501 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986 		JBrowse link
G ELN elastin IDA RGD PMID:12643515 RGD:9585739 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G HGF hepatocyte growth factor disease_progression IEP protein:increased expression:serum: RGD PMID:8952317 RGD:8548628 NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438 		JBrowse link
G IFNG interferon gamma IEP mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IL18 interleukin 18 IEP protein:increased expression:serum RGD PMID:20601655 RGD:4889547 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096 		JBrowse link
G IL1A interleukin 1 alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL4 interleukin 4 IEP mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678 		JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO mRNA:increased expression:skeletal muscle RGD PMID:11157561 RGD:8547876 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP9 matrix metallopeptidase 9 IEP mRNA:increased expression:skeletal muscle RGD PMID:11157561 RGD:8547876 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component IDA RGD PMID:15856462 RGD:2324870 NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629 		JBrowse link
G ROBO1 roundabout guidance receptor 1 IEP mRNA,protein:increased expression:muscle RGD PMID:32213157 RGD:243048425 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
G SLIT2 slit guidance ligand 2 IEP mRNA,protein:increased expression:muscle RGD PMID:32213157 RGD:243048425 NCBI chr 4:20,251,905...20,620,561
Ensembl chr 4:20,251,905...20,620,561 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility IAGP DNA:SNP:intron: (rs7582694) (human) RGD PMID:24632671 RGD:8661720 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596 		JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A severity IEP protein:increased expression:serum RGD PMID:11055823 RGD:8661747 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B severity IEP protein:increased expression:serum RGD PMID:11055823 RGD:8661747 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228 		JBrowse link
Amyopathic Dermatomyositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IEP
IAGP		 DNA:polymorphism (human)
DNA:polymorphism: :HLA-DQA1*0501;		 RGD PMID:18671865 PMID:15067086 PMID:8666549 RGD:5147790, RGD:5147796, RGD:8547569 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
dermatomyositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2 complement C2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:3501473 NCBI chr 6:31,897,783...31,945,672
Ensembl chr 6:31,897,785...31,945,673 		JBrowse link
G C9 complement C9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11359403 NCBI chr 5:39,284,140...39,364,495
Ensembl chr 5:39,284,140...39,371,324 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 IEP protein:increased expression:limb muscle: RGD PMID:15772970 RGD:8661727 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) IEP mRNA:increased expression:skeletal muscle RGD PMID:17572512 RGD:6893508 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277 		JBrowse link
G CD40 CD40 molecule IEP RGD PMID:18050371 RGD:8547765 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G CD40LG CD40 ligand IEP RGD PMID:18050371 RGD:8547765 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 IEP protein:expression:serum RGD PMID:22394569 RGD:9491763 NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044 		JBrowse link
G FAS Fas cell surface death receptor IEP protein:increased expression:serum (human) RGD PMID:9182923 RGD:8662437 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G HGF hepatocyte growth factor disease_progression IEP protein:increased expression:serum: RGD PMID:8952317 RGD:8548628 NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438 		JBrowse link
G HLA-B major histocompatibility complex, class I, B EXP CTD Direct Evidence: marker/mechanism CTD PMID:3501473 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G IFNG interferon gamma IEP mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IL18 interleukin 18 IEP protein:increased expression:serum RGD PMID:20601655 RGD:4889547 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096 		JBrowse link
G IL1A interleukin 1 alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:19035492 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:19035492 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL4 interleukin 4 IEP mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678 		JBrowse link
G MBL2 mannose binding lectin 2 susceptibility IAGP DNA:polymorphisms:cds:p.G54D,G57E(human) RGD PMID:12485445 RGD:8693750 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO mRNA:increased expression:skeletal muscle RGD PMID:11157561 RGD:8547876 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP9 matrix metallopeptidase 9 IEP mRNA:increased expression:skeletal muscle RGD PMID:11157561 RGD:8547876 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component IDA RGD PMID:15856462 RGD:2324870 NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629 		JBrowse link
G ROBO1 roundabout guidance receptor 1 IEP mRNA,protein:increased expression:muscle RGD PMID:32213157 RGD:243048425 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
G SLIT2 slit guidance ligand 2 IEP mRNA,protein:increased expression:muscle RGD PMID:32213157 RGD:243048425 NCBI chr 4:20,251,905...20,620,561
Ensembl chr 4:20,251,905...20,620,561 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP DNA:SNP: :rs7574865 (human) RGD PMID:22402141 RGD:8661693 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596 		JBrowse link
G THBD thrombomodulin IEP RGD PMID:17899683 RGD:5685006 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672 		JBrowse link
G TLR2 toll like receptor 2 IEP mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,070...153,706,260 		JBrowse link
G TLR4 toll like receptor 4 IEP mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TLR9 toll like receptor 9 IEP mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645 		JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19035492 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
erythema nodosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 IEP associated with Leprosy RGD PMID:2783924 RGD:7421527 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G CFB complement factor B IEP associated with Leprosy RGD PMID:2783924 RGD:7421527 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP associated with Behcet Syndrome;DNA:deletion:: (human) RGD PMID:22766250 RGD:7794848 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human) RGD PMID:12198697 RGD:7364926 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G LTA lymphotoxin alpha IAGP associated with Sarcoidosis;DNA:polymorphism:intron RGD PMID:19225544 RGD:8548773 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324 		JBrowse link
G TNF tumor necrosis factor susceptibility IAGP associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human) RGD PMID:12198697 RGD:7364926 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G VDR vitamin D receptor susceptibility IAGP associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human) RGD PMID:24880677 RGD:13217417 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
Nakajo Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSMB8 proteasome 20S subunit beta 8 IAGP ClinVar Annotator: match by term: Nodular erythema digital changes ClinVar PMID:20159315 PMID:20534754 PMID:21129723 PMID:21953331 PMID:25741868 More... NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
nodular nonsuppurative panniculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINA1 serpin family A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:3259592 PMID:6982619 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693 		JBrowse link
otulipenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTULIN OTU deubiquitinase with linear linkage specificity susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Autoinflammation, panniculitis, and dermatosis syndrome
ClinVar Annotator: match by term: Autoinflammation, panniculitis, and dermatosis syndrome | ClinVar Annotator: match by term: OTULIPENIA
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:25741868 PMID:27523608 PMID:27559085 PMID:28492532 PMID:30796585 More... NCBI chr 5:14,664,718...14,716,525
Ensembl chr 5:14,664,664...14,699,850 		JBrowse link
Subcutaneous Panniculitis-like T-Cell Lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HAVCR2 hepatitis A virus cellular receptor 2 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Subcutaneous panniculitis-like T-cell lymphoma		 CTD
OMIM
ClinVar		 PMID:25741868 PMID:30374066 PMID:30792187 NCBI chr 5:157,085,832...157,109,044
Ensembl chr 5:157,085,422...157,142,869 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      musculoskeletal system disease 11642
        autoimmune disease of musculoskeletal system 1027
          polymyositis 42
            dermatomyositis + 37
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        peripheral nervous system disease 5382
          neuropathy 5129
            neuromuscular disease 4041
              muscular disease 2807
                muscle tissue disease 1715
                  myopathy 1391
                    myositis 92
                      polymyositis 42
                        dermatomyositis + 37
paths to the root