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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:sarcoidosis
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Accession:DOID:11335 term browser browse the term
Definition:An idiopathic systemic inflammatory granulomatous disorder comprised of epithelioid and multinucleated giant cells with little necrosis. It usually invades the lungs with fibrosis and may also involve lymph nodes, skin, liver, spleen, eyes, phalangeal bones, and parotid glands.
Synonyms:exact_synonym: Besnier Boeck Disease;   Besnier Boeck Schaumann Syndrome;   Boeck Disease;   Boeck Sarcoid;   Boeck's Disease;   Boeck's Sarcoid;   Boecks Disease;   Boecks Sarcoid;   SARCOIDOSIS, SUSCEPTIBILITY TO, 1;   SARCOIDOSIS, SUSCEPTIBILITY TO, 2;   SARCOIDOSIS, SUSCEPTIBILITY TO, 3;   SS1;   SS2;   SS3;   Sarcoidoses;   Schaumann Disease;   Schaumann Syndrome;   Schaumann's Syndrome;   Schaumann's Syndromes;   lymphogranulomatosis
 primary_id: MESH:D012507;   RDO:0001128
 alt_id: OMIM:181000;   OMIM:612387;   OMIM:612388
 xref: GARD:7607;   ICD10CM:D86;   ICD9CM:135;   NCI:C34995;   ORDO:797
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
sarcoidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme severity
disease_progression
ISO DNA:SNP:enhancer:
DNA:SNP, insertion/deletion, repeat:enhancer, intron 16, 3' utr:
DNA:insertion/deletion:intron 16:
protein:increased activity:serum (human)
GAD
RGD
PMID:15118671 PMID:29229112 PMID:11168787 PMID:18496980 PMID:183595 More... RGD:1331525, RGD:40400908, RGD:40400746, RGD:40400722, RGD:40400721, RGD:11039025 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Agtr1a angiotensin II receptor, type 1a no_association ISO DNA:polymorphism: :1166A>C (human) RGD PMID:21319597 PMID:20560294 RGD:5129164, RGD:5129165 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Anxa11 annexin A11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19165924 NCBI chr16:1,412,373...1,457,814
Ensembl chr16:1,410,756...1,457,797
JBrowse link
G Btnl2 butyrophilin-like 2 susceptibility ISO ClinVar Annotator: match by term: Sarcoidosis, susceptibility to, 2
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs2076530(human)
ClinVar
CTD
OMIM
RGD
PMID:15735647 PMID:22991420 RGD:7365045 NCBI chr20:4,490,904...4,502,557
Ensembl chr20:4,489,517...4,503,341
JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO protein:increased expression:serum RGD PMID:17949965 RGD:4145494 NCBI chr19:10,202,317...10,203,768
Ensembl chr19:10,202,128...10,203,819
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:18513341 RGD:4144898 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO Lofgren Syndrome; DNA:polymorphisms:5' utr:multiple (human) RGD PMID:18311470 RGD:4892086 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cd14 CD14 molecule susceptibility ISO DNA:polymorphism:promoter:c. -159C>T (human)|protein:increased expression:serum RGD PMID:20430603 PMID:20430603 RGD:4144780, RGD:4144780 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO mRNA:increased expression:skin: RGD PMID:12885947 RGD:8662819 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Cfh complement factor H susceptibility ISO DNA:SNP:cds:p.Y402H(human) RGD PMID:23497844 RGD:7365014 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
JBrowse link
G Cma1 chymase 1 ISO DNA:snp:5' utr:g.-526C>T (human) RGD PMID:16446531 RGD:5128561 NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO DNA:polymorphism:exon (human) RGD PMID:14620161 RGD:4891520 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Hp haptoglobin ISO RGD PMID:17446058 RGD:5147442 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Il18 interleukin 18 disease_progression ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16100009 PMID:17015003 RGD:4889815 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO DNA:SNPs:introns,exon:rs7517847,rs11465804,rs11209026(human) RGD PMID:21846945 RGD:8549545 NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
JBrowse link
G Prdx5 peroxiredoxin 5 ISO protein:increased expression:alveolus of lung (human) RGD PMID:22837380 RGD:41404683 NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 susceptibility ISO DNA:SNP: :8473 T > C (human)
protein:decreased expression:lung:
RGD PMID:19042116 PMID:14511257 RGD:5135505, RGD:5135507 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G RT1-A1 RT1 class Ia, locus A1 susceptibility ISO DNA:polymorphisms:cds:HLA-B-7, HLA-B-8 (human) RGD PMID:23808178 RGD:7364872 NCBI chr20:4,905,309...4,914,593 JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms: :HLA-DQBl*O603, DQB1*0604(human) RGD PMID:9659531 RGD:36174017 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 susceptibility ISO DNA:polymorphisms:cds:HLA-B-7, HLA-B-8 (human) RGD PMID:23808178 RGD:7364872 NCBI chr20:3,314,984...3,318,037 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: : HLA-DRB1*08:03(human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :multiple alleles
OMIM
CTD
RGD
PMID:14508706 PMID:22991420 PMID:14508706 RGD:7365045, RGD:7365081 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Sftpd surfactant protein D ISO associated with Uveitis;protein:increased expression:serum RGD PMID:20151281 RGD:4143491 NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:repeat, SNP:promoter, intron (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16597321 PMID:22160516 RGD:5684925 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10673208 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785866 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
Blau syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility ISO ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Jabs syndrome
CTD Direct Evidence: marker/mechanism
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)
DNA:snp:cds:p.E383K (human)
DNA:snp:cds:p.E383G (human)
DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)
OMIM
ClinVar
CTD
RGD
PMID:7825454 PMID:9124059 PMID:9536098 PMID:11087742 PMID:11385576 More... RGD:8547518, RGD:8547515, RGD:8158051, RGD:8158040 NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
JBrowse link
pulmonary sarcoidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase severity ISO RGD PMID:9036208 RGD:5128833 NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
JBrowse link
G Ada adenosine deaminase ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:10410539 RGD:5128856 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO RGD PMID:16315781 RGD:4891110 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G C3 complement C3 ISO protein:altered expression:lung RGD PMID:18069416 RGD:5129502 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO mRNA, protein:increased expression:lung RGD PMID:12626344 RGD:5130912 NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:lung:bronchoalveolar lavage cell (human) RGD PMID:10384061 RGD:4891436 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 disease_progression ISO protein:altered expression:lung, lymphocyte, macrophage (human)
DNA:polymorphisms:5' utr:multiple (human)
RGD PMID:11790661 PMID:19679608 RGD:4892099, RGD:4892066 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISO mRNA:increased expression:lung RGD PMID:12626344 RGD:5130912 NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309
JBrowse link
G Cftr CF transmembrane conductance regulator ISO DNA:mutations:whole blood : RGD PMID:20722470 RGD:4139905 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:15763444 RGD:4892634 NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
JBrowse link
G Crp C-reactive protein severity ISO RGD PMID:21086905 RGD:5131289 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:17550373 PMID:9834133 RGD:5135438, RGD:5135492 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Cxcl11 C-X-C motif chemokine ligand 11 ISO protein:increased expression:serum RGD PMID:17550373 RGD:5135438 NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 disease_progression ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:17052298 RGD:5135244 NCBI chr14:17,310,089...17,312,303
Ensembl chr14:17,310,426...17,313,093
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:serum, respiratory system fluid/secretion RGD PMID:17550373 RGD:5135438 NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO protein:increased expression:respiratory system fluid/secretion, T cell RGD PMID:9834133 RGD:5135492 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969
JBrowse link
G Cyba cytochrome b-245 alpha chain no_association ISO DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human) RGD PMID:16608528 RGD:4780358 NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
JBrowse link
G Defb1 defensin beta 1 ISO protein:increased expression:serum RGD PMID:17000097 RGD:4892262 NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
JBrowse link
G Defb4 defensin beta 4 ISO protein:increased expression:serum RGD PMID:17000097 RGD:4892262 NCBI chr16:70,650,472...70,653,665
Ensembl chr16:70,650,472...70,653,665
JBrowse link
G Defb5 defensin beta 5 ISO protein:increased expression:serum RGD PMID:17000097 RGD:4892262 NCBI chr16:70,613,200...70,615,360
Ensembl chr16:70,613,146...70,615,467
JBrowse link
G Egr1 early growth response 1 ISO protein:increased expression:lung (human) RGD PMID:16933469 RGD:5131899 NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased activity:sputum RGD PMID:19453654 RGD:4145349 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Il15 interleukin 15 ISO mRNA, protein:increased expression:lung RGD PMID:11742275 RGD:4990461 NCBI chr19:25,640,013...25,706,818
Ensembl chr19:25,640,251...25,706,820
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum
protein:increased expression:bronchoalveolar lavage fluid
RGD PMID:11174201 PMID:16734560 RGD:4889863, RGD:4889823 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il18r1 interleukin 18 receptor 1 severity ISO RGD PMID:14641797 RGD:5024944 NCBI chr 9:42,727,416...42,760,971
Ensembl chr 9:42,727,869...42,760,715
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:8239179 RGD:4143198 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Lta lymphotoxin alpha susceptibility ISO DNA:SNP:intron: RGD PMID:15713215 RGD:4143248 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G Muc1 mucin 1, cell surface associated ISO protein:increased expression:serum RGD PMID:14665489 RGD:5131177 NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Ngf nerve growth factor ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:16315781 PMID:21059230 RGD:4891110, RGD:5144061 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 disease_progression ISO DNA:polymorphism:exon:2104C>T (human) RGD PMID:19679608 RGD:4892066 NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:lung RGD PMID:11789718 RGD:4891449 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO protein:increased expression:lung RGD PMID:2255800 RGD:4892566 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
JBrowse link
G Ntf3 neurotrophin 3 disease_progression ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:16315781 PMID:21059230 RGD:4891110, RGD:5144061 NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO protein:increased expression: : RGD PMID:16315781 RGD:4891110 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 severity
susceptibility
ISO DNA:polymorphism:cds:DRB1*03 (human)
DNA:polymorphism:cds:DRB1*15 (human)
RGD PMID:15881283 RGD:40818305 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Sftpa1 surfactant protein A1 ISO protein:decreased expression:lung RGD PMID:10543276 RGD:4143437 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
JBrowse link
G Tgfb1 transforming growth factor, beta 1 severity ISO DNA:polymorphisms: :-509C>T (human) RGD PMID:17785866 RGD:4145294 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:decreased expression:alveolar macrophage RGD PMID:20813038 PMID:23668840 RGD:4145301, RGD:8553184 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tnc tenascin C ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:9780295 RGD:4889595 NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism:promoter RGD PMID:20070603 PMID:15653992 RGD:4143236, RGD:4143466 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO protein:increased expression:serum (human) RGD PMID:21508170 RGD:5131275 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:20442436 RGD:5685623 NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
JBrowse link
uveoparotid fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism (human) RGD PMID:21565911 RGD:5147562 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      primary immunodeficiency disease 3717
        lymphoproliferative syndrome 890
          sarcoidosis 63
            Early-Onset Sarcoidosis + 1
            cardiac sarcoidosis 0
            hypercalcemic sarcoidosis 0
            neurosarcoidosis + 0
            pulmonary sarcoidosis 42
            skin sarcoidosis 0
            uveoparotid fever 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      Immune & Inflammatory Diseases 5045
        immune system disease 4371
          lymphatic system disease 1473
            lymphoproliferative syndrome 890
              sarcoidosis 63
                Early-Onset Sarcoidosis + 1
                cardiac sarcoidosis 0
                hypercalcemic sarcoidosis 0
                neurosarcoidosis + 0
                pulmonary sarcoidosis 42
                skin sarcoidosis 0
                uveoparotid fever 1
paths to the root