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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:tricuspid valve disease
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Accession:DOID:0050826 term browser browse the term
Definition:A heart valve disease that is characterized by valvular insufficiency or valvular stenosis, located_in tricuspid valve between the right atrium and right ventricle. (DO)
Synonyms:exact_synonym: RH. tricuspid valve disease;   disease of tricuspid valve;   rheumatic disease of tricuspid valve;   rheumatic tricuspid valve disease;   tricuspid disease
 xref: EFO:0009568;   ICD10CM:I07;   ICD9CM:397.0


show annotations for term's descendants           Sort by:
Ebstein anomaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1a bone morphogenetic protein receptor type 1A ISS OMIM:224700 MouseDO NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616 		JBrowse link
G Cdk8 cyclin-dependent kinase 8 ISO ClinVar Annotator: match by term: Ebstein anomaly ClinVar PMID:25741868 NCBI chr12:8,737,198...8,805,026
Ensembl chr12:8,737,262...8,804,177 		JBrowse link
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Ebstein anomaly ClinVar NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Ebstein anomaly ClinVar PMID:21127202 PMID:23956225 PMID:24033266 PMID:25741868 PMID:27153395 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Ebstein anomaly ClinVar NCBI chr20:32,629,537...32,639,559 JBrowse link
tricuspid atresia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Tricuspid atresia ClinVar PMID:25741868 NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISS
ISO		 OMIM:605067 MouseDO
RGD		 PMID:10888889 RGD:155882483 NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205 		JBrowse link
tricuspid valve insufficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Tricuspid regurgitation ClinVar PMID:18055909 PMID:20981092 PMID:25741868 PMID:27535533 PMID:28492532 NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Tricuspid regurgitation ClinVar PMID:25741868 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Tricuspid regurgitation ClinVar PMID:25741868 NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: tricuspid valve insufficiency ClinVar PMID:11992261 PMID:12325025 PMID:12634870 PMID:12717436 PMID:12960218 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      cardiovascular system disease 5404
        heart disease 3320
          heart valve disease 534
            tricuspid valve disease 11
              Ebstein anomaly 5
              tricuspid atresia + 2
              tricuspid valve insufficiency 4
              tricuspid valve prolapse 0
              tricuspid valve stenosis 0
paths to the root