{"Name":"Supravalvular pulmonary stenosis","DiseaseID__c":"GARD:0004594","id":4594,"encodedName":"supravalvular-pulmonary-stenosis","IsDeleted":false,"Disease_Name_Full__c":"Supravalvular pulmonary stenosis","Xref_IDs__c":"C3280212; MEDGEN:481842; MONDO:0017870; ORPHA:3192","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":"ORPHA:3192","Disease_Description__c":"Narrowing of the lumen of the right or left pulmonary artery branch.","GARD_Name__c":"Supravalvular pulmonary stenosis","GARD_Synonym__c":"supravalvar pulmonary stenosis; supravalvar pulmonnic stenosis; supravalvular pulmonic stenosis","Curated_Disease_Description_Source__c":"ORPHA:3192","Curated_Disease_Description__c":"A cardiovascular malformation associated with narrowing at the level of the pulmonary sinotubular junction above the pulmonic valve.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:3192","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017870","ORPHANET_ID__c":"ORPHA:3192","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Estenosis supra valvular pulmonar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"estenosis supra valvular pulmonar","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":"A cardiovascular malformation associated with narrowing at the level of the pulmonary sinotubular junction above the pulmonic valve.","Curated_Disease_Description_Source__c":"ORPHA:3192","GARD_Synonym__c":"supravalvar pulmonary stenosis; supravalvar pulmonnic stenosis; supravalvular pulmonic stenosis","Name":"Supravalvular pulmonary 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":"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":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=481842","Source__c":"C3280212","Xref__c":"MEDGEN:481842"},{"URL__c":"https://www.orpha.net/en/disease/detail/3192","Source__c":"C3280212; MONDO:0017870; ORPHA:3192","Xref__c":"ORPHA:3192"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3280212","Source__c":"C3280212","Xref__c":"C3280212"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017870","Source__c":"GARD:0004594","Xref__c":"MONDO:0017870"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0034349","Source__c":"C3280212","Xref__c":"HP:0034349"}],"tags":{"Specialist":["Cardiology","Congenital Heart Disease","Vascular Medicine"],"Disease Category":["Congenital Abnormality"]},"synonyms":["supravalvar pulmonary stenosis"," supravalvar pulmonnic stenosis"," supravalvular pulmonic stenosis"]}