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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 congenital heart defect characterized by downward or apical displacement of the TRICUSPID VALVE, usually with the septal and posterior leaflets being attached to the wall of the RIGHT VENTRICLE. It is characterized by a huge RIGHT ATRIUM and a small and less effective right ventricle.
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;   RDO:0005426
 alt_id: OMIM:224700
 xref: 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 ISS OMIM:224700 MouseDO NCBI chr16:10,758,278...10,852,170
Ensembl chr16:10,758,527...10,802,512
JBrowse link
G Cdk8 cyclin-dependent kinase 8 ISO ClinVar Annotator: match by term: Ebstein's malformation ClinVar PMID:25741868 NCBI chr12:10,496,273...10,561,335 JBrowse link
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Ebstein's malformation ClinVar NCBI chr20:34,574,043...34,743,142
Ensembl chr20:34,575,950...34,684,418
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Ebstein's anomaly ClinVar PMID:21127202 PMID:23956225 PMID:24033266 PMID:29300372 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Ebstein's malformation ClinVar NCBI chr20:34,633,157...34,642,904
Ensembl chr20:34,633,157...34,642,904
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      congenital heart disease 1057
        Ebstein anomaly 5
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      cardiovascular system disease 4369
        heart disease 2636
          heart valve disease 382
            tricuspid valve disease 10
              Ebstein anomaly 5
paths to the root