Ebstein anomaly

Summary
Synonym
  • Ebstein's anomaly
  • Ebstein's anomaly of common atrioventricular valve
  • Ebstein's anomaly of right atrioventricular valve
  • Ebstein's anomaly of tricuspid valve
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.
Super Class
tricuspid valve disease
Disease Ontology
DOID:14289
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
657 BMPR1A bone morphogenetic protein receptor type 1A
Displaying 1 entry
Gene ID Gene Symbol Description Source
12166 Bmpr1a bone morphogenetic protein receptor, type 1A
Displaying 1 entry
Gene ID Gene Symbol Description Source
81507 Bmpr1a bone morphogenetic protein receptor type 1A
Displaying 1 entry
Gene ID Gene Symbol Description Source
174044 sma-6 Serine/threonine-protein kinase receptor sma-6

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024