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
Accession: DOID:10223
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Definition: A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction. (DO)
Synonyms: exact_synonym: Dermatopolymyositis; dermatomyositides; dermatopolymyositides; polymyositis dermatomyositis; polymyositis with skin involvement; polymyositis-dermatomyositides
narrow_synonym: sclerodermatomyositis
primary_id: MESH:D003882
xref: EFO:0000398 ; EFO:1001995 ; GARD:6263 ; ICD10CM:M33 ; ICD9CM:710.3 ; NCI:C26744 ; ORDO:221
For additional species annotation, visit the
Alliance of Genome Resources .
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Angptl2
angiopoietin-like 2
ISS
MouseDO
NCBI chr 3:16,517,185...16,547,024
Ensembl chr 3:16,517,420...16,548,178
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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
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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
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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
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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
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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
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Cd40lg
CD40 ligand
ISO
RGD
PMID:18050371
RGD:8547765
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Robo1
roundabout guidance receptor 1
ISO
mRNA,protein:increased expression:muscle
RGD
PMID:32213157
RGD:243048425
NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
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Slit2
slit guidance ligand 2
ISO
mRNA,protein:increased expression:muscle
RGD
PMID:32213157
RGD:243048425
NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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RT1-CE13
RT1 class I, locus CE13
ISO
associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human)
RGD
PMID:12198697
RGD:7364926
NCBI chr20:3,314,830...3,318,106
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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
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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
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Psmb8
proteasome 20S subunit beta 8
ISO
ClinVar Annotator: match by term: Nodular erythema digital changes
ClinVar
PMID:20159315 PMID:20534754 PMID:21129723 PMID:21953331 PMID:25741868 PMID:26524591 PMID:28492532 More...
NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283
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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
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Otulin
OTU deubiquitinase with linear linkage specificity
ISO
ClinVar Annotator: match by term: Autoinflammation, panniculitis, and dermatosis syndrome | ClinVar Annotator: match by term: OTULIPENIA
ClinVar OMIM
PMID:25741868 PMID:27523608 PMID:27559085 PMID:28492532 PMID:30796585 PMID:30804083 PMID:35170849 PMID:35587511 More...
NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422
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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:30429576 PMID:30792187
NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137
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