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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:Kawasaki disease
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Accession:DOID:13378 term browser browse the term
Definition:A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities. (DO)
Synonyms:exact_synonym: KD;   Kawasaki syndrome;   Kawasaki's disease;   MLNS;   acute febrile MCLS;   acute febrile mucocutaneous lymph node syndrome;   infantile polyarteritis;   mucocutaneous lymph node syndrome
 primary_id: MESH:D009080
 alt_id: MESH:C537014;   OMIM:611775
 xref: EFO:0004246;   GARD:6816;   ICD10CM:M30.3;   ICD9CM:446.1;   NCI:C34825;   ORDO:2331
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Ager advanced glycosylation end product-specific receptor severity ISO RGD PMID:22337222 RGD:8695960 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Blk BLK proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446961 NCBI chr15:37,626,746...37,665,053
Ensembl chr15:37,627,039...37,665,031 		JBrowse link
G Btnl2 butyrophilin-like 2 susceptibility ISO DNA:SNP: :rs 1555115(human) RGD PMID:19882345 RGD:9685030 NCBI chr20:4,490,169...4,504,002
Ensembl chr20:4,489,517...4,503,341 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 susceptibility ISO DNA:polymorphism,haplotype:cds:p.V64I(human) RGD PMID:17672867 RGD:8551811 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 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 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Cd40 CD40 molecule susceptibility ISO DNA:SNP:intron:c.51+1066C>T, (rs1535045) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22446961 PMID:22446962 PMID:22645426 RGD:8547776 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:12563087 RGD:11352236 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Clu clusterin treatment ISO RGD PMID:23956692 RGD:8975365 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
G Crp C-reactive protein susceptibility ISO DNA:SNP: :1444 C-->T(human) RGD PMID:18710885 RGD:9495921 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Eln elastin ISO RGD PMID:21356372 RGD:9585741 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22081228 PMID:22446962 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO RGD PMID:11839635 RGD:1582494 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Hmgb1 high mobility group box 1 ISO protein:increased expression:serum RGD PMID:18720262 RGD:8695977 NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565 		JBrowse link
G Hmox1 heme oxygenase 1 no_association ISO RGD PMID:14521259 RGD:1598409 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hp haptoglobin ISO RGD PMID:20957478 RGD:5147383 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		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 chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227 		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 chr20:3,848,843...3,855,571
Ensembl chr20:3,848,843...3,855,571 		JBrowse link
G Il13 interleukin 13 ISO RGD PMID:21958311 RGD:5684363 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737 		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 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:22361326 PMID:8777922 RGD:6482661, RGD:7401221 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il4 interleukin 4 treatment ISO RGD PMID:22367425 RGD:7829825 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Itpkc inositol-trisphosphate 3-kinase C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18084290 NCBI chr 1:82,500,957...82,522,533
Ensembl chr 1:82,500,957...82,522,779 		JBrowse link
G Mbl1 mannose binding lectin 1 ISO RGD PMID:24721319 RGD:8693744 NCBI chr16:17,029,146...17,035,187
Ensembl chr16:17,029,118...17,035,174 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism:cds: RGD PMID:24721319 PMID:15144709 RGD:8693744, RGD:8693748 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:blood RGD PMID:12626459 PMID:18311803 RGD:1580170, RGD:8547899 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nppb natriuretic peptide B ISO protein:increased expression:plasma RGD PMID:21410593 RGD:5685654 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Selp selectin P ISO RGD PMID:20079717 RGD:6478695 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO protein:increased expression:blood RGD PMID:12626459 RGD:1580170 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:monocyte: RGD PMID:18353240 RGD:7777156 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:15470196 RGD:1580572 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Kawasaki disease 32
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              vascular skin disease 200
                Kawasaki disease 32
paths to the root