{"Name":"Familial mitral valve prolapse","DiseaseID__c":"GARD:0003687","id":3687,"encodedName":"familial-mitral-valve-prolapse","IsDeleted":false,"Disease_Name_Full__c":"Familial mitral valve prolapse","Xref_IDs__c":"233858000; C0340364; MEDGEN:573696; MONDO:0008004; OMIMPS:157700; ORPHA:741","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":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008004","Disease_Description__c":"An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome.","GARD_Name__c":"Familial mitral valve prolapse","GARD_Synonym__c":"hereditary mitral valve prolapse (disease); mitral valve prolapse, familial, autosomal dominant","Curated_Disease_Description_Source__c":"MONDO:0008004","Curated_Disease_Description__c":"An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:741","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008004","ORPHANET_ID__c":"ORPHA:741","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Prolapso valvular mitral familiar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"prolapso valvular mitral familiar","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 instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome.","Curated_Disease_Description_Source__c":"MONDO:0008004","GARD_Synonym__c":"hereditary mitral valve prolapse (disease); mitral valve prolapse, familial, autosomal dominant","Name":"Familial mitral valve prolapse","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Heart Association","Website__c":"https://www.heart.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"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003687","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS157700","Source__c":"MONDO:0008004","Xref__c":"OMIMPS:157700"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=573696","Source__c":"C0340364","Xref__c":"MEDGEN:573696"},{"URL__c":"https://www.orpha.net/en/disease/detail/741","Source__c":"C0340364; MONDO:0008004; ORPHA:741","Xref__c":"ORPHA:741"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0340364","Source__c":"C0340364","Xref__c":"C0340364"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=233858000","Source__c":"C0340364; MONDO:0008004","Xref__c":"233858000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008004","Source__c":"GARD:0003687","Xref__c":"MONDO:0008004"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DCHS1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Congenital Heart Disease"]},"synonyms":["hereditary mitral valve prolapse (disease)"," mitral valve prolapse, familial, autosomal dominant"]}