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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:Ebstein anomaly
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Accession:DOID:14289 term browser browse the term
Definition:A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart. (DO)
Synonyms:exact_synonym: Ebstein Malformation;   Ebstein's Anomaly;   Ebstein's Malformation;   Ebstein's anomaly of common atrioventricular valve;   Ebstein's anomaly of right atrioventricular valve;   Ebstein's anomaly of tricuspid valve;   Ebsteins Anomaly;   Ebsteins Malformation;   Familial Ebstein Anomaly;   Familial Ebstein's Anomaly;   Familial Ebsteins Anomaly
 primary_id: MESH:D004437
 alt_id: OMIM:224700
 xref: EFO:0007244;   GARD:6313;   ICD10CM:Q22.5;   ICD9CM:746.2;   NCI:C84681
For additional species annotation, visit the Alliance of Genome Resources.


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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      congenital heart disease 1349
        Ebstein anomaly 5
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      cardiovascular system disease 5413
        heart disease 3328
          heart valve disease 535
            tricuspid valve disease 11
              Ebstein anomaly 5
paths to the root