{"Name":"Complete atrioventricular canal","DiseaseID__c":"GARD:0001454","id":1454,"encodedName":"complete-atrioventricular-canal","IsDeleted":false,"Disease_Name_Full__c":"Complete atrioventricular canal","Xref_IDs__c":"360481003; C0221215; C186234; C535974; MEDGEN:65132; MONDO:0015273; ORPHA:1329","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015273","Disease_Description__c":"A rare, congenital cardiac anomaly characterized by a common atrioventricular junction with a common AV valve, an interatrial communication just above the common AV valve (ostium primum defect), a posterior interventricular communication (inlet VSD), that results in shunting at both the atrial and ventricular level. Morphologically, the common atrioventricular valve has 4 or 5 leaflets including superior and inferior bridging leaflets with a single annulus.","GARD_Name__c":"Complete atrioventricular canal","GARD_Synonym__c":"atrioventricular canal type ventricular septal defect; cavc; common atrioventricular canal; complete atrioventricular canal defect; complete atrioventricular septal defect; complete atrioventricular septal defect with atrial and ventricular components; complete avsd; complete common av canal; endocardial cushion defect, complete type","Curated_Disease_Description_Source__c":"MONDO:0015273","Curated_Disease_Description__c":"A rare, congenital cardiac anomaly characterized by a common atrioventricular junction with a common AV valve, an interatrial communication just above the common AV valve (ostium primum defect), a posterior interventricular communication (inlet VSD), that results in shunting at both the atrial and ventricular level. Morphologically, the common atrioventricular valve has 4 or 5 leaflets including superior and inferior bridging leaflets with a single annulus.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:1329","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015273","ORPHANET_ID__c":"ORPHA:1329","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Canal auriculoventricular completo","Spanish_Description_Source__c":"ORPHA:1329","Spanish_Description__c":"Es una anomalía cardíaca congénita poco frecuente caracterizada por una conexión auriculoventricular común mediante una válvula AV común, una comunicación interauricular justo por encima de la válvula AV común (comunicación ostium primum) y una comunicación interventricular posterior (CIV de entrada), que provoca un cortocircuito a nivel tanto auricular como ventricular. Morfológicamente, la válvula auriculoventricular común presenta un único anillo con 4 ó 5 velos, incluyendo los acabalgados superior e inferior.","Spanish_Disease_Name__c":"canal auriculoventricular completo","Spanish_GARD_Synonym__c":null,"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":"A rare, congenital cardiac anomaly characterized by a common atrioventricular junction with a common AV valve, an interatrial communication just above the common AV valve (ostium primum defect), a posterior interventricular communication (inlet VSD), that results in shunting at both the atrial and ventricular level. Morphologically, the common atrioventricular valve has 4 or 5 leaflets including superior and inferior bridging leaflets with a single annulus.","Curated_Disease_Description_Source__c":"MONDO:0015273","GARD_Synonym__c":"atrioventricular canal type ventricular septal defect; cavc; common atrioventricular canal; complete atrioventricular canal defect; complete atrioventricular septal defect; complete atrioventricular septal defect with atrial and ventricular components; complete avsd; complete common av canal; endocardial cushion defect, complete type","Name":"Complete atrioventricular canal","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"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":"Neonatal","Provided_By__c":"ORPHA:1329"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1329"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=65132","Source__c":"C0221215","Xref__c":"MEDGEN:65132"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535974","Source__c":"MONDO:0015273","Xref__c":"C535974"},{"URL__c":"https://www.orpha.net/en/disease/detail/1329","Source__c":"C0221215; MONDO:0015273","Xref__c":"ORPHA:1329"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=360481003","Source__c":"C0221215; MONDO:0015273","Xref__c":"360481003"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0221215","Source__c":"C0221215","Xref__c":"C0221215"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015273","Source__c":"GARD:0001454","Xref__c":"MONDO:0015273"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001674","Source__c":"C0221215","Xref__c":"HP:0001674"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C186234","Source__c":"C0221215","Xref__c":"C186234"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001640","HPO_Synonym__c":"Enlarged heart; Increased heart size","HPO_Name__c":"Cardiomegaly","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030864","HPO_Synonym__c":"Chest retractions","HPO_Name__c":"Intercostal retractions","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Very rapid breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002789","HPO_Synonym__c":"Increased respiratory rate or depth of breathing; Polypnea","HPO_Name__c":"Tachypnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Frequent (30-79%)","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:1329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased jugular venous pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030848","HPO_Name__c":"Elevated jugular venous pressure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally elevated blood pressure in the circulation of the pulmonary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004890","HPO_Synonym__c":"Elevated lung artery pressure; increased pulmonary artery pressure","HPO_Name__c":"Elevated pulmonary artery pressure","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001678","HPO_Synonym__c":"Interruption of electrical communication between upper and lower chambers of heart","HPO_Name__c":"Atrioventricular block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000975","HPO_Synonym__c":"Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased","HPO_Name__c":"Hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal location of the insertion of a papillary muscle into the left ventricular wall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025447","HPO_Name__c":"Displacement of the papillary muscles","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031658","HPO_Synonym__c":"S3; Ventricular gallop","HPO_Name__c":"Third heart sound","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012382","HPO_Name__c":"Left-to-right shunt","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal rhythm of the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003115","HPO_Synonym__c":"Abnormal ECG; Abnormal EKG; Abnormal electrocardiogram; EKG abnormality","HPO_Name__c":"Abnormal EKG","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030950","HPO_Name__c":"Pulmonary venous hypertension","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of a cardiac atrium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005120","HPO_Synonym__c":"Abnormality of cardiac atrium morphology; Abnormality of heart atrium","HPO_Name__c":"Abnormal cardiac atrium morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A rapid heartrate that exceeds the range of the normal resting heartrate for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001649","HPO_Synonym__c":"Fast heart rate; Heart racing; Racing heart","HPO_Name__c":"Tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006532","HPO_Synonym__c":"Multiple pulmonary infections; Pneumonia, recurrent; Pneumonia, recurrent episodes; Pulmonary infection; Pulmonary infections; pulmonary infections, recurrent; Recurrent pneumonia; Recurrent pulmonary infections","HPO_Name__c":"Recurrent pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001667","HPO_Synonym__c":"Heart right ventricle hypertrophy","HPO_Name__c":"Right ventricular hypertrophy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031595","HPO_Name__c":"Abnormal P wave","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any functional defect of the mitral or tricuspid valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031650","HPO_Name__c":"Abnormal atrioventricular valve physiology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030830","HPO_Synonym__c":"Crepitations; Rales","HPO_Name__c":"Crackles","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010445","HPO_Synonym__c":"Atrial septal defect, primum type; ostium primum ASD; Ostium primum atrial septal defect; Primum atrioventricular canal defect; Septum primum defect","HPO_Name__c":"Primum atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001674","HPO_Synonym__c":"Common atrioventricular canal; Complete atrioventricular canal; Complete atrioventricular septal defect; Complete common AV canal","HPO_Name__c":"Complete atrioventricular canal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001708","HPO_Synonym__c":"Impaired right ventricular function; Right ventricular impairment; Right-sided heart failure","HPO_Name__c":"Right ventricular failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031664","HPO_Name__c":"Systolic heart murmur","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Occasional (5-29%)","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:1329","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:1329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001254","HPO_Synonym__c":"Dullness; Inaction; Inactivity; Languor; Lethargy; Slowness; Torpor","HPO_Name__c":"Lethargy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030973","HPO_Synonym__c":"Exercise-induced malaise; Postexertional malaise","HPO_Name__c":"Postexertional symptom exacerbation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A high-pitched whistling sound associated with labored breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030828","HPO_Synonym__c":"Wheezing","HPO_Name__c":"Wheezing","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A state of abnormally strong desire for sleep during the daytime.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001262","HPO_Synonym__c":"Excessive daytime sleepiness; More than typical sleepiness during day","HPO_Name__c":"Excessive daytime somnolence","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Congenital Heart Disease","Pediatrics"]},"synonyms":["atrioventricular canal type ventricular septal defect"," cavc"," common atrioventricular canal"," complete atrioventricular canal defect"," complete atrioventricular septal defect"," complete atrioventricular septal defect with atrial and ventricular components"," complete avsd"," complete common av canal"," endocardial cushion defect, complete type"]}