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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: MIM:224700
 xref: EFO:0007244;   GARD:6313;   ICD10CM:Q22.5;   ICD9CM:746.2;   NCI:C84681
For additional species annotation, visit the Alliance of Genome Resources.

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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 ISO OMIM:224700 MouseDO NCBI chrNW_004955510:5,812,571...5,936,312
Ensembl chrNW_004955510:5,905,008...5,936,312 		JBrowse link
G Cdk8 cyclin dependent kinase 8 ISO ClinVar Annotator: match by term: Ebstein anomaly ClinVar PMID:25741868 NCBI chrNW_004955497:5,781,237...5,908,072
Ensembl chrNW_004955497:5,781,237...5,908,374 		JBrowse link
G Cep85l centrosomal protein 85 like ISO ClinVar Annotator: match by term: Ebstein anomaly ClinVar NCBI chrNW_004955436:1,352,481...1,482,061
Ensembl chrNW_004955436:1,393,493...1,465,373 		JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Ebstein anomaly ClinVar NCBI chrNW_004955436:1,439,098...1,447,070
Ensembl chrNW_004955436:1,439,098...1,447,070 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14197
    Developmental Disease 12372
      congenital heart disease 1279
        Ebstein anomaly 4
Path 2
Term Annotations click to browse term
  disease 14197
    disease of anatomical entity 13866
      cardiovascular system disease 4090
        heart disease 2843
          heart valve disease 487
            tricuspid valve disease 10
              Ebstein anomaly 4
paths to the root