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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
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pulmonary sarcoidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:10410539 RGD:5128856 NCBI chrNW_004624790:9,809,550...9,829,199
Ensembl chrNW_004624790:9,809,492...9,829,883 		JBrowse link
G Bdnf brain derived neurotrophic factor ISO RGD PMID:16315781 RGD:4891110 NCBI chrNW_004624766:17,281,882...17,330,601
Ensembl chrNW_004624766:17,279,630...17,330,490 		JBrowse link
G C3 complement C3 ISO protein:altered expression:lung RGD PMID:18069416 RGD:5129502 NCBI chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO mRNA, protein:increased expression:lung RGD PMID:12626344 RGD:5130912 NCBI chrNW_004624736:39,088,741...39,090,745
Ensembl chrNW_004624736:39,088,921...39,090,394 		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 chrNW_004624875:3,334,136...3,342,085
Ensembl chrNW_004624875:3,334,078...3,341,614 		JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISO mRNA:increased expression:lung RGD PMID:12626344 RGD:5130912 NCBI chrNW_004624795:2,777,766...2,787,664
Ensembl chrNW_004624795:2,779,627...2,788,897 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO DNA:mutations:whole blood : RGD PMID:20722470 RGD:4139905 NCBI chrNW_004624827:1,704,733...1,893,579 JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:15763444 RGD:4892634 NCBI chrNW_004624807:7,655,777...7,664,484
Ensembl chrNW_004624807:7,655,620...7,662,362 		JBrowse link
G Crp C-reactive protein severity ISO RGD PMID:21086905 RGD:5131289 NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:9834133 PMID:17550373 RGD:5135438 RGD:5135492 NCBI chrNW_004624757:14,989,241...14,991,650
Ensembl chrNW_004624757:14,989,084...14,991,910 		JBrowse link
G Cxcl11 C-X-C motif chemokine ligand 11 ISO protein:increased expression:serum RGD PMID:17550373 RGD:5135438 NCBI chrNW_004624757:14,952,966...14,954,343
Ensembl chrNW_004624757:14,952,851...14,954,905 		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 chrNW_004624757:14,995,649...15,009,771
Ensembl chrNW_004624757:14,995,716...15,011,893 		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 chrNW_004624903:1,958,323...1,961,789
Ensembl chrNW_004624903:1,958,698...1,961,763 		JBrowse link
G Defb1 defensin beta 1 ISO protein:increased expression:serum RGD PMID:17000097 RGD:4892262 NCBI chrNW_004624861:4,710,687...4,718,867 JBrowse link
G Egr1 early growth response 1 ISO protein:increased expression:lung (human) RGD PMID:16933469 RGD:5131899 NCBI chrNW_004624743:31,247,855...31,251,675
Ensembl chrNW_004624743:31,247,516...31,252,205 		JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased activity:sputum RGD PMID:19453654 RGD:4145349 NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887 		JBrowse link
G Il15 interleukin 15 ISO mRNA, protein:increased expression:lung RGD PMID:11742275 RGD:4990461 NCBI chrNW_004624853:1,059,625...1,144,799
Ensembl chrNW_004624853:1,128,519...1,144,941 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum
protein:increased expression:bronchoalveolar lavage fluid 		RGD PMID:11174201 PMID:16734560 RGD:4889823 RGD:4889863 NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687 		JBrowse link
G Il18r1 interleukin 18 receptor 1 severity ISO RGD PMID:14641797 RGD:5024944 NCBI chrNW_004624749:6,875,934...6,909,702
Ensembl chrNW_004624749:6,875,750...6,909,734 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:8239179 RGD:4143198 NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890 		JBrowse link
G LOC101717043 cytochrome b-245 light chain no_association ISO DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human) RGD PMID:16608528 RGD:4780358 NCBI chrNW_004624746:911,852...919,361
Ensembl chrNW_004624746:911,842...919,362 		JBrowse link
G Lta lymphotoxin alpha susceptibility ISO DNA:SNP:intron: RGD PMID:15713215 RGD:4143248 NCBI chrNW_004624754:24,626,930...24,628,412
Ensembl chrNW_004624754:24,627,318...24,628,182 		JBrowse link
G Muc1 mucin 1, cell surface associated ISO protein:increased expression:serum RGD PMID:14665489 RGD:5131177 NCBI chrNW_004624885:2,339,281...2,343,351 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 chrNW_004624772:11,009,765...11,070,050
Ensembl chrNW_004624772:11,010,845...11,070,017 		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 chrNW_004624757:5,956,873...6,000,052
Ensembl chrNW_004624757:5,958,486...6,000,103 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:lung RGD PMID:11789718 RGD:4891449 NCBI chrNW_004624786:491,944...530,427
Ensembl chrNW_004624786:489,311...528,271 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3 group C member 1 ISO protein:increased expression:lung RGD PMID:2255800 RGD:4892566 NCBI chrNW_004624774:2,496,276...2,603,894
Ensembl chrNW_004624774:2,495,304...2,602,632 		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 chrNW_004624860:2,416,448...2,479,216
Ensembl chrNW_004624860:2,416,503...2,479,225 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO protein:increased expression: : RGD PMID:16315781 RGD:4891110 NCBI chrNW_004624885:1,989,027...2,005,474
Ensembl chrNW_004624885:1,989,138...2,005,577 		JBrowse link
G Tgfb1 transforming growth factor beta 1 severity ISO DNA:polymorphisms: :-509C>T (human) RGD PMID:17785866 RGD:4145294 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605 		JBrowse link
G Tlr2 toll like receptor 2 ISO mRNA:decreased expression:alveolar macrophage RGD PMID:20813038 PMID:23668840 RGD:4145301 RGD:8553184 NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833 		JBrowse link
G Tnc tenascin C ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:9780295 RGD:4889595 NCBI chrNW_004624760:20,044,900...20,137,260
Ensembl chrNW_004624760:20,044,826...20,137,616 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism:promoter RGD PMID:15653992 PMID:20070603 RGD:4143236 RGD:4143466 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO protein:increased expression:serum (human) RGD PMID:21508170 RGD:5131275 NCBI chrNW_004624818:894,470...922,806
Ensembl chrNW_004624818:896,150...922,710 		JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:20442436 RGD:5685623 NCBI chrNW_004624785:5,466,429...5,487,763
Ensembl chrNW_004624785:5,468,563...5,488,143 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14229
    syndrome 9724
      primary immunodeficiency disease 3706
        lymphoproliferative syndrome 990
          sarcoidosis 54
            pulmonary sarcoidosis 35
              Lofgren’s syndrome 0
Path 2
Term Annotations click to browse term
  disease 14229
    disease of anatomical entity 13931
      Immune & Inflammatory Diseases 4791
        immune system disease 4255
          lymphatic system disease 1567
            lymphoproliferative syndrome 990
              sarcoidosis 54
                pulmonary sarcoidosis 35
                  Lofgren’s syndrome 0
paths to the root