{"Name":"Ebstein anomaly","DiseaseID__c":"GARD:0006313","id":6313,"encodedName":"ebstein-anomaly","IsDeleted":false,"Disease_Name_Full__c":"Ebstein anomaly","Xref_IDs__c":"C0013481; C84681; D004437; DOID:14289; MEDGEN:4435; MONDO:0009144; OMIM:224700; ORPHA:1880; Q22.5","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009144","Disease_Description__c":"A rare congenital cardiac anomaly characterized by downward (apical) displacement of the functional annulus, due to incomplete delamination of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction. The anterosuperior leaflet is often abnormal (redundancy, fenestrations, tethering with abnormal subvalvar apparatus). The atrioventricular junction and the ''atrialized'' portion of the right ventricle are dilated, with variable degrees of thinning of the right ventricular wall.","GARD_Name__c":"Ebstein anomaly","GARD_Synonym__c":"ebstein anomaly (disease); ebstein anomaly of the tricuspid valve; ebstein anomaly of tricuspid valve; ebstein malformation of the tricuspid valve; ebstein's anomaly; ebstein's anomaly (disorder) [ambiguous]; ebstein's anomaly of common atrioventricular valve; ebstein's anomaly of right atrioventricular valve; ebstein's anomaly of the tricuspid valve; ebstein's anomaly of tricuspid valve; ebstein's malformation; ebstein's malformation of tricuspid valve; ebsteins anomaly","Curated_Disease_Description_Source__c":"GARD:0006313","Curated_Disease_Description__c":"Ebstein malformation of the tricuspid valve is a rare heart defect in which parts of the tricuspid valve (which separates the right ventricle from the right atrium) are abnormal. The abnormality causes the tricuspid valve to leak blood backwards into the right atrium. The backup of blood flow can lead to heart swelling and fluid buildup in the lungs or liver. Sometimes, not enough blood gets out of the heart into the lungs and the person may appear blue. Symptoms range from mild to very severe.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:1880","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009144","ORPHANET_ID__c":"ORPHA:1880","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Malformación de ebstein de la válvula tricúspide","Spanish_Description_Source__c":"ORPHA:1880","Spanish_Description__c":"Es una anomalía cardíaca congénita poco frecuente caracterizada por un desplazamiento inferior (apical) del anillo funcional valvular tricuspídeo. Debido a una delaminación incompleta de las valvas septal e inferior de la válvula tricúspide, quedan articuladas dentro del ventrículo derecho, en lugar de en la unión auriculoventricular. La valva anterosuperior suele presentar anomalías (redundancia, fenestraciones, tethering anormal del aparato subvalvar). La unión auriculoventricular y la porción \"atrializada\" del ventrículo derecho están dilatadas, con grados variables de adelgazamiento de la pared del ventrículo derecho.","Spanish_Disease_Name__c":"malformación de ebstein de la válvula tricúspide","Spanish_GARD_Synonym__c":"anomalía de ebstein de la válvula tricúspide","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Ebstein malformation of the tricuspid valve is a rare heart defect in which parts of the tricuspid valve (which separates the right ventricle from the right atrium) are abnormal. The abnormality causes the tricuspid valve to leak blood backwards into the right atrium. The backup of blood flow can lead to heart swelling and fluid buildup in the lungs or liver. Sometimes, not enough blood gets out of the heart into the lungs and the person may appear blue. Symptoms range from mild to very severe.","Curated_Disease_Description_Source__c":"GARD:0006313","GARD_Synonym__c":"ebstein anomaly (disease); ebstein anomaly of the tricuspid valve; ebstein anomaly of tricuspid valve; ebstein malformation of the tricuspid valve; ebstein's anomaly; ebstein's anomaly (disorder) [ambiguous]; ebstein's anomaly of common atrioventricular valve; ebstein's anomaly of right atrioventricular valve; ebstein's anomaly of the tricuspid valve; ebstein's anomaly of tricuspid valve; ebstein's malformation; ebstein's malformation of tricuspid valve; ebsteins anomaly","Name":"Ebstein anomaly","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Adult Congenital Heart Association","Website__c":"https://www.achaheart.org/"},{"Account_Name__c":"Ebstein's Anomaly Foundation","Website__c":"https://www.ebsteinsanomaly.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Congenital Heart Disease","Tag_Category__c":"Specialist","curated_tag_name":"Congenital heart disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:1880"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0013481"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006313","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/1880","Source__c":"C0013481; MONDO:0009144; ORPHA:1880","Xref__c":"ORPHA:1880"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=4435","Source__c":"C0013481","Xref__c":"MEDGEN:4435"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C004437","Source__c":"C0013481; MONDO:0009144","Xref__c":"D004437"},{"URL__c":"https://www.omim.org/entry/224700","Source__c":"C0013481; MONDO:0009144; ORPHA:1880","Xref__c":"OMIM:224700"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84681","Source__c":"C0013481; MONDO:0009144","Xref__c":"C84681"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0013481","Source__c":"C0013481","Xref__c":"C0013481"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14289","Source__c":"MONDO:0009144","Xref__c":"DOID:14289"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0010316","Source__c":"C0013481","Xref__c":"HP:0010316"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q22.5","Source__c":"MONDO:0009144","Xref__c":"Q22.5"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009144","Source__c":"GARD:0006313","Xref__c":"MONDO:0009144"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=204357006","Source__c":"C0013481","Xref__c":"204357006"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MYH7","GHR_URL__c":"https://medlineplus.gov/genetics/gene/myh7","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001635","HPO_Synonym__c":"Cardiac failure; Cardiac failures; Cardiac insufficiency; CHF; Chronic heart failure; Heart failure","HPO_Name__c":"Congestive heart failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the intra-atrial or intraventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001671","HPO_Synonym__c":"Abnormality of the cardiac septa; Heart septal defect; Septal defects","HPO_Name__c":"Abnormal cardiac septum morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally low level of blood oxygen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012418","HPO_Synonym__c":"Low blood oxygen level","HPO_Name__c":"Hypoxemia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010741","HPO_Synonym__c":"Edema of the lower limbs; Fluid accumulation in lower limbs; Leg edema; Lower leg swelling; Peripheral edema of lower extremity","HPO_Name__c":"Pedal edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000961","HPO_Synonym__c":"Blue discoloration of the skin","HPO_Name__c":"Cyanosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001658","HPO_Synonym__c":"Heart attack; MI","HPO_Name__c":"Myocardial infarction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005110","HPO_Synonym__c":"Quivering upper heart chambers resulting in irregular heartbeat","HPO_Name__c":"Atrial fibrillation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001643","HPO_Synonym__c":"Ductus arteriosus; Patent ductus Botalli; PDA; Persistent arterial duct; Persistent ductus arteriosus","HPO_Name__c":"Patent ductus arteriosus","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001645","HPO_Synonym__c":"Premature sudden cardiac death; Sudden cardiac death","HPO_Name__c":"Sudden cardiac death","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A heart murmur that occurs during the entire systolic phase from S1 to S2.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031667","HPO_Name__c":"Holosystolic murmur","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001631","HPO_Synonym__c":"An opening in the wall separating the top two chambers of the heart; ASD; Atria septal defect; Atrial septum defect; Atrioseptal defect; Defect in the atrial septum; Hole in heart wall separating two upper heart chambers","HPO_Name__c":"Atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The formation of a blood clot inside an artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004420","HPO_Synonym__c":"Blood clot in artery","HPO_Name__c":"Arterial thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001297","HPO_Synonym__c":"Cerebral vascular events; Cerebrovascular accident; Stroke","HPO_Name__c":"Stroke","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002637","HPO_Synonym__c":"Brain ischemia; Cerebrovascular ischemia; Disruption of blood oxygen supply to brain","HPO_Name__c":"Cerebral ischemia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005180","HPO_Synonym__c":"Tricuspid insufficiency; Tricuspid valve regurgitation","HPO_Name__c":"Tricuspid regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A tricuspid valve that has failed to open.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011575","HPO_Synonym__c":"Unopened tricuspid valve","HPO_Name__c":"Imperforate tricuspid valve","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100749","HPO_Synonym__c":"Chest pain; Thoracic pain","HPO_Name__c":"Chest pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001962","HPO_Synonym__c":"Heart palpitations; Missed heart beat; Palpitations; Skipped heart beat","HPO_Name__c":"Palpitations","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart and blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030680","HPO_Synonym__c":"Abnormality of cardiovascular system morphology; Cardiovascular malformations","HPO_Name__c":"Abnormal cardiovascular system morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011712","HPO_Synonym__c":"Right bundle branch block; Right bundle-branch block","HPO_Name__c":"Complete right bundle branch block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the endocardium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004306","HPO_Synonym__c":"Abnormality of the endocardium; Abnormality of the endomycoardium","HPO_Name__c":"Abnormal endocardium morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1880","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"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_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010316","HPO_Synonym__c":"Ebstein's anomaly; Ebstein's anomaly of the tricuspid valve; Ebstein's malformation","HPO_Name__c":"Ebstein anomaly of the tricuspid valve","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Congenital Heart Disease","Pediatrics"]},"synonyms":["ebstein anomaly (disease)"," ebstein anomaly of the tricuspid valve"," ebstein anomaly of tricuspid valve"," ebstein malformation of the tricuspid valve"," ebstein's anomaly"," ebstein's anomaly (disorder) [ambiguous]"," ebstein's anomaly of common atrioventricular valve"," ebstein's anomaly of right atrioventricular valve"," ebstein's anomaly of the tricuspid valve"," ebstein's anomaly of tricuspid valve"," ebstein's malformation"," ebstein's malformation of tricuspid valve"," ebsteins anomaly"]}