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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:lymph node disease
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Accession:DOID:9942 term browser browse the term
Synonyms:primary_id: RDO:9002657
 xref: NCI:C35346
For additional species annotation, visit the Alliance of Genome Resources.


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AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk1 receptor interacting serine/threonine kinase 1 ISO ClinVar Annotator: match by term: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY ClinVar
OMIM
PMID:31827280 PMID:31827281 NCBI chr17:31,537,580...31,569,904
Ensembl chr17:31,537,591...31,569,904
JBrowse link
Immunoblastic Lymphadenopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413737 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413737 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413737 PMID:24584070 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413737 NCBI chr 2:238,719,389...238,802,975
Ensembl chr 2:238,720,835...238,803,024
JBrowse link
Kawasaki disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:16982510 RGD:5686751 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Ager advanced glycosylation end product-specific receptor severity ISO RGD PMID:22337222 RGD:8695960 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Blk BLK proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446961 NCBI chr15:46,555,552...46,593,778
Ensembl chr15:46,555,188...46,593,653
JBrowse link
G Btnl2 butyrophilin-like 2 susceptibility ISO DNA:SNP: :rs 1555115(human) RGD PMID:19882345 RGD:9685030 NCBI chr20:4,140,184...4,156,365
Ensembl chr20:4,141,878...4,154,978
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 susceptibility ISO DNA:polymorphism,haplotype:cds:p.V64I(human) RGD PMID:17672867 RGD:8551811
G Ccr5 C-C motif chemokine receptor 5 susceptibility
treatment
ISO DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
DNA:frameshift mutation, haplotypes: :p.S185_T195del (rs333) (human)
DNA:polymorphisms, haplotype:multiple
RGD PMID:17672867, PMID:15962231, PMID:20628649 RGD:8551811, RGD:8551815, RGD:8551812 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd40 CD40 molecule susceptibility ISO DNA:SNP:intron:c.51+1066C>T, (rs1535045) (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:22446961 PMID:22446962, PMID:22645426 RGD:8547776 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:12563087 RGD:11352236 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Clu clusterin treatment ISO RGD PMID:23956692 RGD:8975365 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Crp C-reactive protein susceptibility ISO DNA:SNP: :1444 C-->T(human) RGD PMID:18710885 RGD:9495921 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Eln elastin ISO RGD PMID:21356372 RGD:9585741 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:22081228 PMID:22446962 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO RGD PMID:11839635 RGD:1582494 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Hmgb1 high mobility group box 1 ISO protein:increased expression:serum RGD PMID:18720262 RGD:8695977 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
JBrowse link
G Hmox1 heme oxygenase 1 no_association ISO RGD PMID:14521259 RGD:1598409 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hp haptoglobin ISO RGD PMID:20957478 RGD:5147383 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO DNA:polymorphism:5' utr:190G>C (rs1043618) (human) RGD PMID:23870089 RGD:8662464 NCBI chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
JBrowse link
G Hspa1l heat shock protein family A (Hsp70) member 1 like ISO DNA:missense mutation, haplotype:cds:2437T>C (p.M493T) (rs2227956) (human) RGD PMID:23870089 RGD:8662464 NCBI chr20:4,879,998...4,965,191
Ensembl chr20:4,959,294...4,964,963
JBrowse link
G Il13 interleukin 13 ISO RGD PMID:21958311 RGD:5684363 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il18 interleukin 18 susceptibility
disease_progression
ISO DNA:SNPs, haplotype:promoter:-137G>C, -607C>A, -656G>T (rs187238, rs1946519, rs1946518) (human)
DNA:silent mutation, haplotypes:cds:c.105A>C (rs549908) (human)
RGD PMID:18484687, PMID:15345916, PMID:19288449 RGD:8655874, RGD:8655924, RGD:8655898 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:22361326, PMID:8777922 RGD:6482661, RGD:7401221 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il4 interleukin 4 treatment ISO RGD PMID:22367425 RGD:7829825 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Itpkc inositol-trisphosphate 3-kinase C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18084290 NCBI chr 1:84,018,857...84,040,433
Ensembl chr 1:84,018,859...84,040,433
JBrowse link
G Mbl1 mannose binding lectin 1 ISO RGD PMID:24721319 RGD:8693744 NCBI chr16:18,736,154...18,742,193
Ensembl chr16:18,736,154...18,742,193
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism:cds: RGD PMID:24721319, PMID:15144709 RGD:8693744, RGD:8693748 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:blood RGD PMID:12626459, PMID:18311803 RGD:1580170, RGD:8547899 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nppb natriuretic peptide B ISO protein:increased expression:plasma RGD PMID:21410593 RGD:5685654 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Selp selectin P ISO RGD PMID:20079717 RGD:6478695 NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO protein:increased expression:blood RGD PMID:12626459 RGD:1580170 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:monocyte: RGD PMID:18353240 RGD:7777156 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor susceptibility
treatment
ISO DNA:SNP: :-308G>A (human) RGD PMID:14703611, PMID:18710885, PMID:8777922, PMID:14744383 RGD:1580318, RGD:9495921, RGD:7401221, RGD:7401183 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:15470196 RGD:1580572 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
lymphadenitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sting1 stimulator of interferon response cGAMP interactor 1 disease_progression ISO associated with herpes simplex RGD PMID:27511736 RGD:39128217 NCBI chr18:28,529,537...28,535,828
Ensembl chr18:28,529,576...28,535,828
JBrowse link
Lymphadenopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 treatment ISO RGD PMID:10676886 RGD:14398737 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
paracoccidioidomycosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr5 C-C motif chemokine receptor 5 ISO RGD PMID:18292527 RGD:4892087 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd28 Cd28 molecule ISO RGD PMID:20713624 RGD:5131616 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
G Cfb complement factor B ISO RGD PMID:7921333 RGD:7421526 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:17003484 RGD:8547589 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 ISO mRNA, protein:decreased expression, decreased activity:lung,plasmacytoid dendritic cell (mouse) RGD PMID:27992577 RGD:39939072 NCBI chr16:72,216,326...72,228,098
Ensembl chr16:72,216,326...72,228,098
JBrowse link
G Il18 interleukin 18 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
JBrowse link
G Il33 interleukin 33 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:19765107 RGD:8657058 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:19765107 RGD:8657058 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 severity ISO DNA:polymorphism, haplotype:cds:HLA-DRB1*11 (human) RGD PMID:17325942 RGD:5147631 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:−308G>A(human) RGD PMID:17145373 RGD:7401182 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
sialadenitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:17284325 RGD:8661704
G Cd4 Cd4 molecule treatment IMP RGD PMID:1828009 RGD:10059317 NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
JBrowse link
Sjögren-Mikulicz Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion: : RGD PMID:10616008 RGD:5491001 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      immune system disease 3053
        lymphatic system disease 1186
          lymph node disease 49
            Lymphadenopathy + 6
            bubonic plague 0
            lymph node benign neoplasm + 0
            lymph node cancer + 0
            lymph node tuberculosis + 0
            lymphadenitis + 35
            paracoccidioidomycosis + 13
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      Immune & Inflammatory Diseases 3691
        immune system disease 3053
          lymphatic system disease 1186
            lymph node disease 49
              Lymphadenopathy + 6
              bubonic plague 0
              lymph node benign neoplasm + 0
              lymph node cancer + 0
              lymph node tuberculosis + 0
              lymphadenitis + 35
              paracoccidioidomycosis + 13
paths to the root