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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:pulmonary sarcoidosis
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Accession:DOID:13406 term browser browse the term
Definition:A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction. (DO)
Synonyms:exact_synonym: lung sarcoidosis;   pulmonary sarcoidoses
 primary_id: MESH:D017565
 xref: ICD10CM:D86.0;   NCI:C34997
For additional species annotation, visit the Alliance of Genome Resources.


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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...68,327,380
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 chr13:85,135,384...85,175,178
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 chr14:17,310,790...17,312,250
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 chr16:70,612,985...70,615,389
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 chr18:26,462,967...26,466,766
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 chr19:25,640,025...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 2:174,635,989...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 chr19:18,382,369...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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      primary immunodeficiency disease 4151
        lymphoproliferative syndrome 1058
          sarcoidosis 63
            pulmonary sarcoidosis 42
              Lofgren’s syndrome 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Immune & Inflammatory Diseases 5573
        immune system disease 4781
          lymphatic system disease 1673
            lymphoproliferative syndrome 1058
              sarcoidosis 63
                pulmonary sarcoidosis 42
                  Lofgren’s syndrome 0
paths to the root