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ONTOLOGY REPORT - ANNOTATIONS


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;   NCI:C84681
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Ebstein anomaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmpr1a bone morphogenetic protein receptor type 1A JBrowse link 16 10,758,278 10,852,170 RGD:13592920
G Cdk8 cyclin-dependent kinase 8 JBrowse link 12 10,496,273 10,561,335 RGD:8554872
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Pln phospholamban JBrowse link 20 34,633,157 34,642,904 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      congenital heart disease 850
        Ebstein anomaly 5
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        Congenital Abnormalities 3592
          Cardiovascular Abnormalities 903
            congenital heart disease 850
              Ebstein anomaly 5
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.