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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


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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 chr10:88,935,074...88,991,337
Ensembl chr10:88,935,074...88,991,339 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO mRNA:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798 		JBrowse link
G CD209 CD209 molecule IEP protein:increased expression:left cardiac atrium, dendritic cell (human) RGD PMID:30261069 RGD:41410815 NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) IEP mRNA:decreased expression:blood, mononuclear cell RGD PMID:16741676 RGD:6893529 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277 		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 chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO mRNA:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G FCN3 ficolin 3 IAGP ClinVar Annotator: match by term: Rheumatic heart disease ClinVar NCBI chr 1:27,369,110...27,374,824
Ensembl chr 1:27,369,110...27,374,824 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26823728 RGD:13792679 NCBI chr12:6,534,517...6,538,371
Ensembl chr12:6,534,512...6,538,374 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphisms, haplotypes:multiple
DNA:polymorphism, haplotype: :HLA-DQA1*0101, HLA-DQA1*0103, HLA-DQA1*0301 (human)		 RGD PMID:17559688 PMID:29029143 RGD:5147792, RGD:126925989 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphisms:cds:HLA-DQB1*08 (human) RGD PMID:17578051 RGD:5147630 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphism (human)
DNA:polymorphism:cds:HLA-DRB1*13 (human)		 RGD PMID:17578051 PMID:16426242 RGD:5147630, RGD:5147643 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IGF1 insulin like growth factor 1 IEP RGD PMID:16406300 RGD:1582623 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IL10 interleukin 10 no_association IAGP RGD PMID:16043936 RGD:1598626 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G INHBA inhibin subunit beta A ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 7:41,685,114...41,705,406
Ensembl chr 7:41,667,168...41,705,834 		JBrowse link
G LEF1 lymphoid enhancer binding factor 1 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 4:108,047,548...108,168,932
Ensembl chr 4:108,047,545...108,168,956 		JBrowse link
G MIR155 microRNA 155 ISO RGD PMID:31894293 RGD:151347417 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044 		JBrowse link
G MMP9 matrix metallopeptidase 9 IEP RGD PMID:16406300 RGD:1582623 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G SNAI1 snail family transcriptional repressor 1 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr20:49,982,980...49,988,886
Ensembl chr20:49,982,980...49,988,886 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 treatment ISO RGD PMID:31894293 RGD:151347417 NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
G ZEB1 zinc finger E-box binding homeobox 1 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr10:31,318,417...31,529,804
Ensembl chr10:31,318,495...31,529,814 		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 chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
rheumatic myocarditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSN gelsolin IEP protein:decreased expression:blood plasma (human) RGD PMID:25403731 RGD:329333026 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 severity IEP protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G SELE selectin E severity IEP protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 1:169,722,640...169,734,079
Ensembl chr 1:169,722,640...169,764,705 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 severity IEP protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      cardiovascular system disease 6065
        heart disease 4434
          heart valve disease 1032
            rheumatic heart disease 26
              rheumatic congestive heart failure 0
              rheumatic myocarditis 4
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      musculoskeletal system disease 11642
        connective tissue disease 7446
          bone disease 5601
            bone inflammation disease 1559
              arthropathy 1533
                arthritis 976
                  rheumatic fever 27
                    rheumatic heart disease 26
                      rheumatic congestive heart failure 0
                      rheumatic myocarditis 4
paths to the root