{"Name":"Familial atrioventricular septal defect","DiseaseID__c":"GARD:0000802","id":802,"encodedName":"familial-atrioventricular-septal-defect","IsDeleted":false,"Disease_Name_Full__c":"Familial atrioventricular septal defect","Xref_IDs__c":"15459006; C101029; CN029142; DOID:0050651; MEDGEN:1813070; MONDO:0020290; OMIMPS:606215; ORPHA:98722; Q21.2","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0020290","Disease_Description__c":"A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves.","GARD_Name__c":"Familial atrioventricular septal defect","GARD_Synonym__c":"atrioventricular canal defect; avc defect; avsd","Curated_Disease_Description_Source__c":"MONDO:0020290","Curated_Disease_Description__c":"A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:98722","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020290","ORPHANET_ID__c":"ORPHA:98722","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Defecto de la comunicación auriculoventricular","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"defecto de la comunicación auriculoventricular","Spanish_GARD_Synonym__c":"avsd; defecto del canal auriculoventricular","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 spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves.","Curated_Disease_Description_Source__c":"MONDO:0020290","GARD_Synonym__c":"atrioventricular canal defect; avc defect; avsd","Name":"Familial atrioventricular septal defect","estimateUsa":""}],"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C101029","Source__c":"MONDO:0020290","Xref__c":"C101029"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=15459006","Source__c":"MONDO:0020290","Xref__c":"15459006"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS606215","Source__c":"MONDO:0020290","Xref__c":"OMIMPS:606215"},{"URL__c":"https://www.orpha.net/en/disease/detail/98722","Source__c":"CN029142; MONDO:0020290","Xref__c":"ORPHA:98722"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050651","Source__c":"MONDO:0020290","Xref__c":"DOID:0050651"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN029142","Source__c":"CN029142","Xref__c":"CN029142"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1813070","Source__c":"CN029142","Xref__c":"MEDGEN:1813070"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q21.2","Source__c":"MONDO:0020290","Xref__c":"Q21.2"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020290","Source__c":"GARD:0000802","Xref__c":"MONDO:0020290"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Congenital Heart Disease"]},"synonyms":["atrioventricular canal defect"," avc defect"," avsd"]}