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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:Cardiac manifestation of systemic rheumatological conditions, such as RHEUMATIC FEVER. Rheumatic heart disease can involve any part the heart, most often the HEART VALVES and the ENDOCARDIUM.
Synonyms:exact_synonym: Bouillaud Disease;   Bouillaud's Disease;   Bouillauds Disease;   Rheumatic Heart Diseases;   rheumatic carditis
 primary_id: MESH:D012214;   RDO:0006490
For additional species annotation, visit the Alliance of Genome Resources.



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rheumatic heart disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd209 CD209 molecule ISO protein:increased expression:left cardiac atrium, dendritic cell (human) RGD PMID:30261069 RGD:41410815 NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
JBrowse link
G Cd36 CD36 molecule ISO mRNA:decreased expression:blood, mononuclear cell RGD PMID:16741676 RGD:6893529 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G Fcna ficolin A ISO ClinVar Annotator: match by term: Rheumatic heart disease ClinVar NCBI chr 3:8,445,904...8,449,128
Ensembl chr 3:8,445,907...8,449,105
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase IEP RGD PMID:26823728 RGD:13792679 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:16406300 RGD:1582623 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Il10 interleukin 10 no_association ISO RGD PMID:16043936 RGD:1598626 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Mir155 microRNA 155 IMP RGD PMID:31894293 RGD:151347417 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16406300 RGD:1582623 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO 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 chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms:cds:HLA-DQB1*08 (human) RGD PMID:17578051 RGD:5147630 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism (human)
DNA:polymorphism:cds:HLA-DRB1*13 (human)
RGD PMID:17578051 PMID:16426242 RGD:5147630, RGD:5147643 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Socs1 suppressor of cytokine signaling 1 treatment IEP RGD PMID:31894293 RGD:151347417 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
JBrowse link
rheumatic myocarditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Icam1 intercellular adhesion molecule 1 severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Sele selectin E severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      cardiovascular system disease 4542
        heart disease 2705
          rheumatic heart disease 15
            rheumatic congestive heart failure 0
            rheumatic myocarditis 3
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      Immune & Inflammatory Diseases 4056
        immune system disease 3410
          primary immunodeficiency disease 2733
            autoimmune disease 1856
              autoimmune disease of musculoskeletal system 959
                rheumatic disease 748
                  rheumatic fever 16
                    rheumatic heart disease 15
                      rheumatic congestive heart failure 0
                      rheumatic myocarditis 3
paths to the root