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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:A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs. (DO)
Synonyms:exact_synonym: Besnier Boeck Schaumann Syndrome;   Besnier Boeck disease;   Boeck Disease;   Boeck Sarcoid;   Boeck's Disease;   Boeck's Sarcoid;   Boecks Disease;   Boecks Sarcoid;   Schaumann Disease;   Schaumann syndrome;   Schaumann's Syndrome;   Schaumann's syndromes;   lymphogranulomatosis;   sarcoidoses
 related_synonym: SS1;   SS2;   SS3;   sarcoidosis, susceptibility to, 1;   sarcoidosis, susceptibility to, 2;   sarcoidosis, susceptibility to, 3
 primary_id: MESH:D012507
 alt_id: MIM:181000;   MIM:612387;   MIM:612388
 xref: EFO:0000690;   GARD:7607;   ICD10CM:D86;   ICD9CM:135;   MONDO:0019338;   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 chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		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 chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850 		JBrowse link
G Anxa11 annexin A11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19165924 NCBI chr14:25,842,575...25,887,228
Ensembl chr14:25,842,580...25,887,228 		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 chr17:34,573,763...34,588,466
Ensembl chr17:34,573,796...34,588,469 		JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO protein:increased expression:serum RGD PMID:17949965 RGD:4145494 NCBI chr 8:95,535,996...95,538,666
Ensembl chr 8:95,537,081...95,538,664 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:18513341 RGD:4144898 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		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 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736 		JBrowse link
G Cd14 CD14 antigen susceptibility ISO DNA:polymorphism:promoter:c. -159C>T (human)|protein:increased expression:serum RGD PMID:20430603 PMID:20430603 RGD:4144780, RGD:4144780 NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO mRNA:increased expression:skin: RGD PMID:12885947 RGD:8662819 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
G Cfh complement component factor h susceptibility ISO DNA:SNP:cds:p.Y402H(human) RGD PMID:23497844 RGD:7365014 NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502 		JBrowse link
G Cma1 chymase 1, mast cell ISO DNA:snp:5' utr:g.-526C>T (human) RGD PMID:16446531 RGD:5128561 NCBI chr14:56,178,908...56,182,132
Ensembl chr14:56,178,908...56,182,132 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO DNA:polymorphism:exon (human) RGD PMID:14620161 RGD:4891520 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphisms: :HLA-DQBl*O603, DQB1*0604(human) RGD PMID:9659531 RGD:36174017 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta 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 chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 susceptibility ISO DNA:polymorphisms:cds:HLA-B-7, HLA-B-8 (human) RGD PMID:23808178 RGD:7364872 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443 		JBrowse link
G H2-Q4 histocompatibility 2, Q region locus 4 susceptibility ISO DNA:polymorphisms:cds:HLA-B-7, HLA-B-8 (human) RGD PMID:23808178 RGD:7364872 NCBI chr17:35,598,593...35,603,650
Ensembl chr17:35,598,593...35,604,266 		JBrowse link
G Hp haptoglobin ISO RGD PMID:17446058 RGD:5147442 NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804 		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 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO DNA:SNPs:introns,exon:rs7517847,rs11465804,rs11209026(human) RGD PMID:21846945 RGD:8549545 NCBI chr 6:67,399,906...67,468,838
Ensembl chr 6:67,399,916...67,468,839 		JBrowse link
G Prdx5 peroxiredoxin 5 ISO protein:increased expression:alveolus of lung (human) RGD PMID:22837380 RGD:41404683 NCBI chr19:6,884,065...6,887,474
Ensembl chr19:6,884,065...6,887,474 		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 chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Sftpd surfactant associated protein D ISO associated with Uveitis;protein:increased expression:serum RGD PMID:20151281 RGD:4143491 NCBI chr14:40,894,169...40,907,155
Ensembl chr14:40,894,171...40,907,106 		JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 ISO DNA:repeat, SNP:promoter, intron (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16597321 PMID:22160516 RGD:5684925 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:10673208 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785866 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
Blau syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chr 8:89,423,506...89,478,574
Ensembl chr 8:89,423,675...89,478,573 		JBrowse link
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:11385576 PMID:11385577 More... RGD:8547518, RGD:8547515, RGD:8158051, RGD:8158040 NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102 		JBrowse link
G Sall1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chr 8:89,753,867...89,770,790
Ensembl chr 8:89,753,863...89,770,790 		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 2:26,732,508...26,754,973
Ensembl chr 2:26,732,515...26,754,991 		JBrowse link
G Ada adenosine deaminase ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:10410539 RGD:5128856 NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159 		JBrowse link
G Bdnf brain derived neurotrophic factor ISO RGD PMID:16315781 RGD:4891110 NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352 		JBrowse link
G C3 complement component 3 ISO protein:altered expression:lung RGD PMID:18069416 RGD:5129502 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO mRNA, protein:increased expression:lung RGD PMID:12626344 RGD:5130912 NCBI chr 4:42,754,525...42,756,558
Ensembl chr 4:42,754,525...42,756,577 		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 chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344 		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 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736 		JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISO mRNA:increased expression:lung RGD PMID:12626344 RGD:5130912 NCBI chr11:99,035,025...99,045,903
Ensembl chr11:99,035,022...99,045,903 		JBrowse link
G Cftr cystic fibrosis transmembrane conductance regulator ISO DNA:mutations:whole blood : RGD PMID:20722470 RGD:4139905 NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767 		JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:15763444 RGD:4892634 NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919 		JBrowse link
G Crp C-reactive protein, pentraxin-related severity ISO RGD PMID:21086905 RGD:5131289 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598 		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 chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748 		JBrowse link
G Cxcl11 chemokine (C-X-C motif) ligand 11 ISO protein:increased expression:serum RGD PMID:17550373 RGD:5135438 NCBI chr 5:92,507,403...92,511,155
Ensembl chr 5:92,507,403...92,513,344 		JBrowse link
G Cxcl5 C-X-C motif chemokine ligand 5 disease_progression ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:17052298 RGD:5135244 NCBI chr 5:90,907,157...90,909,484
Ensembl chr 5:90,907,219...90,909,483 		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 chr 5:92,469,190...92,475,938
Ensembl chr 5:92,469,206...92,475,938 		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:100,775,141...100,777,753
Ensembl chr  X:100,775,141...100,777,875 		JBrowse link
G Cyba cytochrome b-245, alpha polypeptide no_association ISO DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human) RGD PMID:16608528 RGD:4780358 NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669 		JBrowse link
G Defb1 defensin beta 1 ISO protein:increased expression:serum RGD PMID:17000097 RGD:4892262 NCBI chr 8:22,266,571...22,285,201
Ensembl chr 8:22,266,615...22,285,201 		JBrowse link
G Defb3 defensin beta 3 ISO protein:increased expression:serum RGD PMID:17000097 RGD:4892262 NCBI chr 8:19,343,377...19,345,355
Ensembl chr 8:19,343,376...19,345,307 		JBrowse link
G Defb4 defensin beta 4 ISO protein:increased expression:serum RGD PMID:17000097 RGD:4892262 NCBI chr 8:19,248,720...19,251,563
Ensembl chr 8:19,248,722...19,251,561 		JBrowse link
G Egr1 early growth response 1 ISO protein:increased expression:lung (human) RGD PMID:16933469 RGD:5131899 NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility
severity		 ISO DNA:polymorphism:cds:DRB1*15 (human)
DNA:polymorphism:cds:DRB1*03 (human)		 RGD PMID:15881283 RGD:40818305 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased activity:sputum RGD PMID:19453654 RGD:4145349 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
G Il15 interleukin 15 ISO mRNA, protein:increased expression:lung RGD PMID:11742275 RGD:4990461 NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851 		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 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Il18r1 interleukin 18 receptor 1 severity ISO RGD PMID:14641797 RGD:5024944 NCBI chr 1:40,504,712...40,540,014
Ensembl chr 1:40,504,712...40,540,014 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:8239179 RGD:4143198 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G Lta lymphotoxin A susceptibility ISO DNA:SNP:intron: RGD PMID:15713215 RGD:4143248 NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327 		JBrowse link
G Muc1 mucin 1, transmembrane ISO protein:increased expression:serum RGD PMID:14665489 RGD:5131177 NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688 		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 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329 		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 chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102 		JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO protein:increased expression:lung RGD PMID:11789718 RGD:4891449 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO protein:increased expression:lung RGD PMID:2255800 RGD:4892566 NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474 		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 6:126,078,375...126,143,703
Ensembl chr 6:126,078,375...126,143,873 		JBrowse link
G Ntrk1 neurotrophic tyrosine kinase, receptor, type 1 ISO protein:increased expression: : RGD PMID:16315781 RGD:4891110 NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469 		JBrowse link
G Sftpa1 surfactant associated protein A1 ISO protein:decreased expression:lung RGD PMID:10543276 RGD:4143437 NCBI chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 severity ISO DNA:polymorphisms: :-509C>T (human) RGD PMID:17785866 RGD:4145294 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Tlr2 toll-like receptor 2 ISO
IMP		 mRNA:decreased expression:alveolar macrophage RGD PMID:20813038 PMID:23668840 RGD:4145301, RGD:8553184 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074 		JBrowse link
G Tnc tenascin C ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:9780295 RGD:4889595 NCBI chr 4:63,878,022...63,965,554
Ensembl chr 4:63,878,022...63,965,252 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism:promoter RGD PMID:20070603 PMID:15653992 RGD:4143236, RGD:4143466 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b ISO protein:increased expression:serum (human) RGD PMID:21508170 RGD:5131275 NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440 		JBrowse link
G Vip vasoactive intestinal polypeptide ISO RGD PMID:20442436 RGD:5685623 NCBI chr10:5,589,131...5,597,617
Ensembl chr10:5,589,218...5,597,617 		JBrowse link
uveoparotid fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphism (human) RGD PMID:21565911 RGD:5147562 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16263
    syndrome 10872
      primary immunodeficiency disease 4141
        lymphoproliferative syndrome 1112
          sarcoidosis 65
            Early-Onset Sarcoidosis + 3
            cardiac sarcoidosis 0
            hypercalcemic sarcoidosis 0
            neurosarcoidosis + 0
            ocular sarcoidosis 0
            pulmonary sarcoidosis + 42
            skin sarcoidosis 0
            uveoparotid fever 1
Path 2
Term Annotations click to browse term
  disease 16263
    disease of anatomical entity 15855
      Immune & Inflammatory Diseases 5375
        immune system disease 4740
          lymphatic system disease 1723
            lymphoproliferative syndrome 1112
              sarcoidosis 65
                Early-Onset Sarcoidosis + 3
                cardiac sarcoidosis 0
                hypercalcemic sarcoidosis 0
                neurosarcoidosis + 0
                ocular sarcoidosis 0
                pulmonary sarcoidosis + 42
                skin sarcoidosis 0
                uveoparotid fever 1
paths to the root