Human Gene Set: HP_EBSTEIN_ANOMALY_OF_THE_TRICUSPID_VALVE
Standard name
HP_EBSTEIN_ANOMALY_OF_THE_TRICUSPID_VALVE
Systematic name
M45438
Brief description
Ebstein anomaly of the tricuspid valve
Full description or abstract
Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
