{"Name":"Subvalvular aortic stenosis","DiseaseID__c":"GARD:0005052","id":5052,"encodedName":"subvalvular-aortic-stenosis","IsDeleted":false,"Disease_Name_Full__c":"Subvalvular aortic stenosis","Xref_IDs__c":"204368006; C0340375; C85172; D001020; DOID:5805; HP:0001682; MEDGEN:90950; MONDO:0006987","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0006987","Disease_Description__c":"An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects.","GARD_Name__c":"Subvalvular aortic stenosis","GARD_Synonym__c":"narrowing of blood vessel below aortic heart valve; subaortic stenosis; subvalvar stenosis; subvalvular aortic stenosis, eisenberg type; subvalvular stenosis","Curated_Disease_Description_Source__c":"MEDGEN:C0340375","Curated_Disease_Description__c":"A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0006987","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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 fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.","Curated_Disease_Description_Source__c":"MEDGEN:C0340375","GARD_Synonym__c":"narrowing of blood vessel below aortic heart valve; subaortic stenosis; subvalvar stenosis; subvalvular aortic stenosis, eisenberg type; subvalvular stenosis","Name":"Subvalvular aortic stenosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Adult Congenital Heart Association","Website__c":"https://www.achaheart.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=204368006","Source__c":"C0340375; MONDO:0006987","Xref__c":"204368006"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A5805","Source__c":"MONDO:0006987","Xref__c":"DOID:5805"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C001020","Source__c":"C0340375; MONDO:0006987","Xref__c":"D001020"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0340375","Source__c":"C0340375","Xref__c":"C0340375"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85172","Source__c":"C0340375; MONDO:0006987","Xref__c":"C85172"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=90950","Source__c":"C0340375","Xref__c":"MEDGEN:90950"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0006987","Source__c":"GARD:0005052","Xref__c":"MONDO:0006987"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001682","Source__c":"C0340375","Xref__c":"HP:0001682"}],"tags":{"Specialist":["Vascular Medicine"]},"synonyms":["narrowing of blood vessel below aortic heart valve"," subaortic stenosis"," subvalvar stenosis"," subvalvular aortic stenosis, eisenberg type"," subvalvular stenosis"]}