{"Name":"Lethal congenital glycogen storage disease of heart","DiseaseID__c":"GARD:0010728","id":10728,"encodedName":"lethal-congenital-glycogen-storage-disease-of-heart","IsDeleted":false,"Disease_Name_Full__c":"Lethal congenital glycogen storage disease of heart","Xref_IDs__c":"C1849813; C564888; DOID:0090101; MEDGEN:337919; MONDO:0009867; OMIM:261740; ORPHA:439854","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009867","Disease_Description__c":"Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene.","GARD_Name__c":"Lethal congenital glycogen storage disease of heart","GARD_Synonym__c":"fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease; fatal congenital hypertrophic cardiomyopathy due to glycogenosis; fatal congenital hypertrophic cardiomyopathy due to gsd; fatal congenital nonlysosomal cardiac glycogenosis; glycogen storage disease caused by mutation in prkag2; glycogen storage disease of heart; phosphorylase kinase deficiency of heart; prkag2 glycogen storage disease","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease is a rare disease that affects babies before or after birth. It is characterized by severe heart problems, breathing difficulties, and failure to thrive. Other symptoms include facial abnormalities, cataracts, enlarged kidneys, and muscle problems. This disease is often fatal during infancy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:439854","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009867","ORPHANET_ID__c":"ORPHA:439854","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miocardiopatía hipertrófica fatal congénita por una enfermedad del almacenamiento del glucógeno","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"miocardiopatía hipertrófica fatal congénita por una enfermedad del almacenamiento del glucógeno","Spanish_GARD_Synonym__c":"miocardiopatía hipertrófica fetal congénita por gsd; miocardiopatía hipertrófica fetal congénita por una glucogenosis","Category_Linearization__c":"ORPHA:97929","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":"Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease is a rare disease that affects babies before or after birth. It is characterized by severe heart problems, breathing difficulties, and failure to thrive. Other symptoms include facial abnormalities, cataracts, enlarged kidneys, and muscle problems. This disease is often fatal during infancy.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease; fatal congenital hypertrophic cardiomyopathy due to glycogenosis; fatal congenital hypertrophic cardiomyopathy due to gsd; fatal congenital nonlysosomal cardiac glycogenosis; glycogen storage disease caused by mutation in prkag2; glycogen storage disease of heart; phosphorylase kinase deficiency of heart; prkag2 glycogen storage disease","Name":"Lethal congenital glycogen storage disease of heart","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Fetal Health Foundation","Website__c":"https://www.fetalhealthfoundation.org/"},{"Account_Name__c":"Canadian Association for Glycogen Storage Disease","Website__c":"https://www.canadianagsd.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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:439854"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:439854"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1849813"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010728","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1849813","Source__c":"C1849813","Xref__c":"C1849813"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090101","Source__c":"MONDO:0009867","Xref__c":"DOID:0090101"},{"URL__c":"https://www.omim.org/entry/261740","Source__c":"C1849813; MONDO:0009867; ORPHA:439854","Xref__c":"OMIM:261740"},{"URL__c":"https://www.orpha.net/en/disease/detail/439854","Source__c":"C1849813; MONDO:0009867; ORPHA:439854","Xref__c":"ORPHA:439854"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564888","Source__c":"MONDO:0009867","Xref__c":"C564888"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=337919","Source__c":"C1849813","Xref__c":"MEDGEN:337919"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1230303001","Source__c":"C1849813","Xref__c":"1230303001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009867","Source__c":"GARD:0010728","Xref__c":"MONDO:0009867"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PRKAG2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/prkag2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:261740","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). 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Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001663","HPO_Name__c":"Ventricular fibrillation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:261740","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001541","HPO_Synonym__c":"Accumulation of fluid in the abdomen; Peritoneal effusion","HPO_Name__c":"Ascites","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:261740","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased length and width of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000158","HPO_Synonym__c":"Abnormally large tongue; Hyperplasia of the tongue; Hypertrophy of the tongue; Increased size of tongue; Large tongue; Tongue hypertrophy","HPO_Name__c":"Macroglossia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:261740","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001998","HPO_Synonym__c":"Low blood sugar in newborn","HPO_Name__c":"Neonatal hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:261740","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Thickening of the heart walls in both ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200128","HPO_Name__c":"Biventricular hypertrophy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:261740","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012250","HPO_Name__c":"ST segment depression","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}},{"Provided_By__c":"OMIM:261740","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:261740","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:261740","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of interstitial fluid in the soft tissues of the limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012398","HPO_Name__c":"Peripheral edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:261740","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002104","HPO_Synonym__c":"Absence of spontaneous respiration; Apneic episodes; Apnoea","HPO_Name__c":"Apnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:261740","Feature__r":{"HPO_Description__c":"A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001638","HPO_Synonym__c":"Disease of the heart muscle","HPO_Name__c":"Cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:261740","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Fluid accumulation in the lungs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100598","HPO_Synonym__c":"Excess fluid in lungs; Lung edema; Pulmonary edema; Wet lung","HPO_Name__c":"Pulmonary edema","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:261740","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001623","HPO_Synonym__c":"Breech presentation at birth; Feet or buttocks of fetus positioned near opening of uterus","HPO_Name__c":"Breech presentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:261740","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":"OMIM:261740","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":"OMIM:261740","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An inversion of the T-wave (which is normally positive).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010872","HPO_Synonym__c":"EKG: T-wave inversion","HPO_Name__c":"T-wave inversion","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}},{"Provided_By__c":"OMIM:261740","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Elevated amount of glycogen in the myocardium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034532","HPO_Synonym__c":"Increased glycogen in myocardium","HPO_Name__c":"Increased myocardial glycogen content","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:261740","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:261740","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:261740","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006677","HPO_Synonym__c":"Intraventricular conduction delay; Prolonged QRS complex on EKG; QRS widening","HPO_Name__c":"Prolonged QRS complex","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}},{"Provided_By__c":"OMIM:261740","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012251","HPO_Name__c":"ST segment elevation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}},{"Provided_By__c":"OMIM:261740","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033568","HPO_Synonym__c":"Electrical left axis deviation","HPO_Name__c":"Left axis deviation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}},{"Provided_By__c":"OMIM:261740","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001639","HPO_Synonym__c":"Cardiomyopathy, hypertrophic; Enlarged and thickened heart muscle; HCM","HPO_Name__c":"Hypertrophic cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:261740","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Low Blood Pressure, vascular hypotension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002615","HPO_Synonym__c":"Arterial hypotension; Low blood pressure","HPO_Name__c":"Hypotension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:261740","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A slower than normal heart rate (in adults, slower than 60 beats per minute).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001662","HPO_Synonym__c":"Brachycardia; Slow heartbeats","HPO_Name__c":"Bradycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:261740","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:261740","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010851","HPO_Name__c":"EEG with burst suppression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"OMIM:261740","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the size of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000105","HPO_Synonym__c":"Enlarged kidney; Large kidneys; Nephromegaly; Renal enlargement","HPO_Name__c":"Enlarged kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:261740","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:261740","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of fluid within the pericardium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001698","HPO_Synonym__c":"Fluid around heart; Pericardial effusions","HPO_Name__c":"Pericardial effusion","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Cardiology","Pediatrics"],"Account":["Cardiomyopathy"]},"synonyms":["fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease"," fatal congenital hypertrophic cardiomyopathy due to glycogenosis"," fatal congenital hypertrophic cardiomyopathy due to gsd"," fatal congenital nonlysosomal cardiac glycogenosis"," glycogen storage disease caused by mutation in prkag2"," glycogen storage disease of heart"," phosphorylase kinase deficiency of heart"," prkag2 glycogen storage disease"]}