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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:dermatomyositis
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Accession:DOID:10223 term browser browse the term
Definition:A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)
Synonyms:exact_synonym: Dermatopolymyositides;   Dermatopolymyositis;   Polymyositis-Dermatomyositides;   dermatomyositides;   polymyositis dermatomyositis;   polymyositis with skin involvement
 related_synonym: Amyopathic dermatomyositis
 primary_id: MESH:D003882
 xref: GARD:6263;   ICD10CM:M33;   ICD10CM:M33.9;   ICD10CM:M33.90;   ICD9CM:710.3;   NCI:C26744;   ORDO:221
For additional species annotation, visit the Alliance of Genome Resources.


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dermatomyositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angptl2 angiopoietin-like 2 ISS MouseDO NCBI chr 3:16,517,185...16,547,024
Ensembl chr 3:16,517,420...16,548,178 		JBrowse link
G C2 complement C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3501473 NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G C9 complement C9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11359403 NCBI chr 2:55,573,094...55,621,345
Ensembl chr 2:55,572,992...55,621,338 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:limb muscle: RGD PMID:15772970 RGD:8661727 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Cd36 CD36 molecule ISO mRNA:increased expression:skeletal muscle RGD PMID:17572512 RGD:6893508 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:18050371 RGD:8547765 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO protein:expression:serum RGD PMID:22394569 RGD:9491763 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:serum (human) RGD PMID:9182923 RGD:8662437 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Hgf hepatocyte growth factor disease_progression ISO protein:increased expression:serum: RGD PMID:8952317 RGD:8548628 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Ifng interferon gamma ISO mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:20601655 RGD:4889547 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19035492 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19035492 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il4 interleukin 4 ISO mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphisms:cds:p.G54D,G57E(human) RGD PMID:12485445 RGD:8693750 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO mRNA:increased expression:skeletal muscle RGD PMID:11157561 RGD:8547876 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO mRNA:increased expression:skeletal muscle RGD PMID:11157561 RGD:8547876 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Pms1 PMS1 homolog 1, mismatch repair system component ISO RGD PMID:15856462 RGD:2324870 NCBI chr 9:48,229,403...48,340,237
Ensembl chr 9:48,253,410...48,340,237 		JBrowse link
G RT1-A1 RT1 class Ia, locus A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3501473 NCBI chr20:4,905,309...4,914,593 JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs7574865 (human) RGD PMID:22402141 RGD:8661693 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Thbd thrombomodulin ISO RGD PMID:17899683 RGD:5685006 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19035492 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
Amyopathic Dermatomyositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism (human)
DNA:polymorphism: :HLA-DQA1*0501;		 RGD PMID:18671865 PMID:15067086 PMID:8666549 RGD:5147790, RGD:5147796, RGD:8547569 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
erythema nodosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO associated with Leprosy RGD PMID:2783924 RGD:7421527 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Cfb complement factor B ISO associated with Leprosy RGD PMID:2783924 RGD:7421527 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO associated with Behcet Syndrome;DNA:deletion:: (human) RGD PMID:22766250 RGD:7794848 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Lta lymphotoxin alpha ISO associated with Sarcoidosis;DNA:polymorphism:intron RGD PMID:19225544 RGD:8548773 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G RT1-A1 RT1 class Ia, locus A1 ISO associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human) RGD PMID:12198697 RGD:7364926 NCBI chr20:4,905,309...4,914,593 JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human) RGD PMID:12198697 RGD:7364926 NCBI chr20:3,314,984...3,318,037 JBrowse link
G Tnf tumor necrosis factor susceptibility ISO associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human) RGD PMID:12198697 RGD:7364926 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human) RGD PMID:24880677 RGD:13217417 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3259592 PMID:6982619 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339 		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 ISO ClinVar Annotator: match by term: Autoinflammation, panniculitis, and dermatosis syndrome OMIM
ClinVar		 PMID:25741868 PMID:27523608 PMID:27559085 PMID:28492532 NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422 		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 ISO 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 chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    sensory system disease 6469
      skin disease 3754
        dermatomyositis 36
          Amyopathic Dermatomyositis 1
          C9 Deficiency with Dermatomyositis 0
          adult dermatomyositis 0
          childhood type dermatomyositis 0
          panniculitis + 11
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        peripheral nervous system disease 2975
          neuropathy 2767
            neuromuscular disease 2186
              muscular disease 1418
                muscle tissue disease 935
                  myopathy 769
                    myositis 80
                      polymyositis 41
                        dermatomyositis 36
                          Amyopathic Dermatomyositis 1
                          C9 Deficiency with Dermatomyositis 0
                          adult dermatomyositis 0
                          childhood type dermatomyositis 0
                          panniculitis + 11
paths to the root