{"Name":"Subpulmonary stenosis","DiseaseID__c":"GARD:0005051","id":5051,"encodedName":"subpulmonary-stenosis","IsDeleted":false,"Disease_Name_Full__c":"Subpulmonary stenosis","Xref_IDs__c":"448476001; C3165028; HP:0034348; MEDGEN:757434; MONDO:0017866; ORPHA:3190","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":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:3190","Disease_Description__c":null,"GARD_Name__c":"Subpulmonary stenosis","GARD_Synonym__c":"infundibular pulmonary stenosis; infundibular pulmonic stenosis; subvalvar pulmonary stenosis; subvalvar pulmonic stenosis; subvalvular pulmonary stenosis; subvalvular pulmonic stenosis","Curated_Disease_Description_Source__c":"ORPHA:3189","Curated_Disease_Description__c":"Subpulmonary stenosis is a rare congenital heart malformation characterized by an obstruction to flow through the pulmonary valve with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction occurs at the subpulmonary level (under or on the ventral side of the lungs).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:3190","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017866","ORPHANET_ID__c":"ORPHA:3190","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Estenosis sub-pulmonar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"estenosis sub-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":"Subpulmonary stenosis is a rare congenital heart malformation characterized by an obstruction to flow through the pulmonary valve with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction occurs at the subpulmonary level (under or on the ventral side of the lungs).","Curated_Disease_Description_Source__c":"ORPHA:3189","GARD_Synonym__c":"infundibular pulmonary stenosis; infundibular pulmonic stenosis; subvalvar pulmonary stenosis; subvalvar pulmonic stenosis; subvalvular pulmonary stenosis; subvalvular pulmonic stenosis","Name":"Subpulmonary 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://browser.ihtsdotools.org/?perspective=full&conceptId1=448476001","Source__c":"C3165028; MONDO:0017866","Xref__c":"448476001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3165028","Source__c":"C3165028","Xref__c":"C3165028"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=757434","Source__c":"C3165028","Xref__c":"MEDGEN:757434"},{"URL__c":"https://www.orpha.net/en/disease/detail/3190","Source__c":"C3165028; MONDO:0017866; ORPHA:3190","Xref__c":"ORPHA:3190"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0034348","Source__c":"C3165028","Xref__c":"HP:0034348"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017866","Source__c":"GARD:0005051","Xref__c":"MONDO:0017866"}],"tags":{"Specialist":["Cardiology","Congenital Heart Disease","Vascular Medicine"],"Disease Category":["Congenital Abnormality"]},"synonyms":["infundibular pulmonary stenosis"," infundibular pulmonic stenosis"," subvalvar pulmonary stenosis"," subvalvar pulmonic stenosis"," subvalvular pulmonary stenosis"," subvalvular pulmonic stenosis"]}