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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:rheumatic heart disease
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Accession:DOID:0050827 term browser browse the term
Definition:A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords. (DO)
Synonyms:exact_synonym: Bouillaud disease;   Bouillaud's Disease;   Bouillauds Disease;   rheumatic carditis;   rheumatic heart diseases
 primary_id: MESH:D012214
 xref: EFO:1001161


show annotations for term's descendants           Sort by:
rheumatic heart disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr26:38,700,434...38,714,915
Ensembl chr26:38,700,480...38,711,753 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO mRNA:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464 		JBrowse link
G CD209 CD209 molecule ISO protein:increased expression:left cardiac atrium, dendritic cell (human) RGD PMID:30261069 RGD:41410815 NCBI chr20:52,517,759...52,542,085
Ensembl chr20:52,518,036...52,520,942 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO mRNA:decreased expression:blood, mononuclear cell RGD PMID:16741676 RGD:6893529 NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO mRNA:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765 		JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 ISO DNA:polymorphisms:cds:HLA-DQB1*08 (human) RGD PMID:17578051 RGD:5147630 NCBI chr12:2,305,307...2,307,711 JBrowse link
G FCN3 ficolin 3 ISO ClinVar Annotator: match by term: Rheumatic heart disease ClinVar
G HLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO DNA:polymorphism:cds:HLA-DRB1*13 (human)
DNA:polymorphism (human)		 RGD PMID:16426242 PMID:17578051 RGD:5147630 RGD:5147643 NCBI chr12:2,151,409...2,164,564 JBrowse link
G IGF1 insulin like growth factor 1 ISO RGD PMID:16406300 RGD:1582623 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794 		JBrowse link
G IL10 interleukin 10 no_association ISO RGD PMID:16043936 RGD:1598626 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G INHBA inhibin subunit beta A ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr18:8,272,978...8,288,432
Ensembl chr18:8,272,872...8,283,794 		JBrowse link
G LEF1 lymphoid enhancer binding factor 1 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr32:28,516,002...28,633,759
Ensembl chr32:28,517,108...28,634,019 		JBrowse link
G LOC100688969 glyceraldehyde-3-phosphate dehydrogenase-like ISO RGD PMID:26823728 RGD:13792679 NCBI chr  X:51,925,654...51,926,724 JBrowse link
G MIR155 microRNA mir-155 ISO RGD PMID:31894293 RGD:151347417 NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:16406300 RGD:1582623 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G SNAI1 snail family transcriptional repressor 1 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr24:36,498,343...36,503,623
Ensembl chr24:36,498,062...36,503,628 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 treatment ISO RGD PMID:31894293 RGD:151347417 NCBI chr 6:31,511,003...31,511,995
Ensembl chr 6:31,509,268...31,511,557 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558
G ZEB1 zinc finger E-box binding homeobox 1 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 2:15,300,401...15,481,535
Ensembl chr 2:15,299,723...15,481,495 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr19:46,419,812...46,541,888
Ensembl chr19:46,423,998...46,542,122 		JBrowse link
rheumatic myocarditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSN gelsolin ISO protein:decreased expression:blood plasma (human) RGD PMID:25403731 RGD:329333026 NCBI chr11:74,248,227...74,268,129
Ensembl chr11:74,233,457...74,268,129 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914 		JBrowse link
G SELE selectin E severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 7:28,888,503...28,898,787
Ensembl chr 7:28,888,197...28,898,786 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      cardiovascular system disease 4407
        heart disease 3114
          heart valve disease 524
            rheumatic heart disease 25
              rheumatic congestive heart failure 0
              rheumatic myocarditis 4
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      musculoskeletal system disease 7742
        connective tissue disease 5279
          bone disease 3826
            bone inflammation disease 1288
              arthropathy 1268
                arthritis 848
                  rheumatic fever 26
                    rheumatic heart disease 25
                      rheumatic congestive heart failure 0
                      rheumatic myocarditis 4
paths to the root