{"Name":"Atrial septal defect 7","DiseaseID__c":"GARD:0016566","id":16566,"encodedName":"atrial-septal-defect-7","IsDeleted":false,"Disease_Name_Full__c":"Atrial septal defect 7","Xref_IDs__c":"C3276096; DOID:0110112; MEDGEN:477726; MONDO:0007173; OMIM:108900; ORPHA:1479","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0007173","Disease_Description__c":"An extremely rare genetic congenital heart disease characterized by the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.","GARD_Name__c":"Atrial septal defect 7","GARD_Synonym__c":"asd with or without atrioventricular conduction defects; atrial heart septal defect caused by mutation in nkx2-5; atrial heart septal defect type 7; atrial septal defect 7 with atrioventricular conduction defects; atrial septal defect 7 without atrioventricular conduction defects; atrial septal defect 7, with or without av conduction defects; atrial septal defect with atrioventricular conduction defects; atrial septal defect with atrioventricular conduction defects, somatic; atrial septal defect-atrioventricular conduction defects syndrome; nkx2-5 atrial heart septal defect","Curated_Disease_Description_Source__c":"MONDO:0007173","Curated_Disease_Description__c":"An extremely rare genetic congenital heart disease characterized by the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:1479","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007173","ORPHANET_ID__c":"ORPHA:1479","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de comunicación interauricular con defecto de conducción","Spanish_Description_Source__c":"ORPHA:1479","Spanish_Description__c":"Es una cardiopatía congénita genética extremadamente infrecuente caracterizada por la presencia de CIA, principalmente del tipo ostium secundum, asociada con anomalías de la conducción como el bloqueo aurículoventricular, la fibrilación auricular o el bloqueo de rama derecha.","Spanish_Disease_Name__c":"síndrome de comunicación interauricular con defecto de conducción","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":"An extremely rare genetic congenital heart disease characterized by the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.","Curated_Disease_Description_Source__c":"MONDO:0007173","GARD_Synonym__c":"asd with or without atrioventricular conduction defects; atrial heart septal defect caused by mutation in nkx2-5; atrial heart septal defect type 7; atrial septal defect 7 with atrioventricular conduction defects; atrial septal defect 7 without atrioventricular conduction defects; atrial septal defect 7, with or without av conduction defects; atrial septal defect with atrioventricular conduction defects; atrial septal defect with atrioventricular conduction defects, somatic; atrial septal defect-atrioventricular conduction defects syndrome; nkx2-5 atrial heart septal defect","Name":"Atrial septal defect 7","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Clinical Cardiac Electrophysiology","Tag_Category__c":"Specialist","curated_tag_name":"Clinical cardiac electrophysiology"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"No data available","Provided_By__c":"ORPHA:1479"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3276096","Source__c":"C3276096","Xref__c":"C3276096"},{"URL__c":"https://www.orpha.net/en/disease/detail/1479","Source__c":"C3276096; MONDO:0007173","Xref__c":"ORPHA:1479"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110112","Source__c":"MONDO:0007173","Xref__c":"DOID:0110112"},{"URL__c":"https://www.omim.org/entry/108900","Source__c":"C3276096; MONDO:0007173; ORPHA:1479","Xref__c":"OMIM:108900"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=477726","Source__c":"C3276096","Xref__c":"MEDGEN:477726"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007173","Source__c":"GARD:0016566","Xref__c":"MONDO:0007173"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NKX2-5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1479","HPO_Frequency__c":"Very frequent (80-99%)","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:1479","HPO_Frequency__c":"Very frequent (80-99%)","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:1479","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011710","HPO_Synonym__c":"Bundle-branch block","HPO_Name__c":"Bundle branch block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Congenital Heart Disease","Clinical Cardiac Electrophysiology"]},"synonyms":["asd with or without atrioventricular conduction defects"," atrial heart septal defect caused by mutation in nkx2-5"," atrial heart septal defect type 7"," atrial septal defect 7 with atrioventricular conduction defects"," atrial septal defect 7 without atrioventricular conduction defects"," atrial septal defect 7, with or without av conduction defects"," atrial septal defect with atrioventricular conduction defects"," atrial septal defect with atrioventricular conduction defects, somatic"," atrial septal defect-atrioventricular conduction defects syndrome"," nkx2-5 atrial heart septal defect"]}