{"Name":"Pulmonary valve agenesis","DiseaseID__c":"GARD:0004597","id":4597,"encodedName":"pulmonary-valve-agenesis","IsDeleted":false,"Disease_Name_Full__c":"Pulmonary valve agenesis","Xref_IDs__c":"6996004; C0344983; MEDGEN:576671; MONDO:0020064; ORPHA:982","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"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":2,"Description_Source__c":"MONDO:0020064","Disease_Description__c":"Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.","GARD_Name__c":"Pulmonary valve agenesis","GARD_Synonym__c":"absent pulmonary valve syndrome; apvs - absent pulmonary valve syndrome; congenital absence of the pulmonary valve; pva","Curated_Disease_Description_Source__c":"MONDO:0020064","Curated_Disease_Description__c":"Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:982","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020064","ORPHANET_ID__c":"ORPHA:982","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Agenesia de válvula pulmonar","Spanish_Description_Source__c":"ORPHA:982","Spanish_Description__c":"La ausencia de la válvula pulmonar es una malformación cardíaca congénita poco frecuente caracterizada por una ausencia total o parcial de las membranas de la válvula pulmonar asociada con estenosis del orificio de la arteria pulmonar y dilatación aneurismática de las arterias pulmonares. Por lo general se presenta en asociación con malformaciones cardiovasculares adicionales, tales como la tetralogía de Fallot o defecto septal ventricular, o como parte de un síndrome (p. ej. el síndrome de deleción 22q11.2; ver este término). Las manifestaciones clínicas dependen de la presencia de malformaciones cardíacas asociadas e incluyen insuficiencia pulmonar, obstrucción bronquial (secundaria a la compresión por la dilatación aneurismática de las arterias pulmonares) estenosis pulmonar, cianosis y fallo cardíaco.","Spanish_Disease_Name__c":"agenesia de válvula pulmonar","Spanish_GARD_Synonym__c":"ausencia congénita de válvula pulmonar; síndrome de válvula pulmonar ausente","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":"Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.","Curated_Disease_Description_Source__c":"MONDO:0020064","GARD_Synonym__c":"absent pulmonary valve syndrome; apvs - absent pulmonary valve syndrome; congenital absence of the pulmonary valve; pva","Name":"Pulmonary valve agenesis","estimateUsa":""}],"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:982"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:982"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=6996004","Source__c":"MONDO:0020064","Xref__c":"6996004"},{"URL__c":"https://www.orpha.net/en/disease/detail/982","Source__c":"C0344983; MONDO:0020064","Xref__c":"ORPHA:982"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=576671","Source__c":"C0344983","Xref__c":"MEDGEN:576671"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0344983","Source__c":"C0344983","Xref__c":"C0344983"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=253596003","Source__c":"C0344983","Xref__c":"253596003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020064","Source__c":"GARD:0004597","Xref__c":"MONDO:0020064"}],"tags":{"Specialist":["Cardiology","Congenital Heart Disease","Vascular Medicine","Pediatrics"],"Disease Category":["Congenital Abnormality"]},"synonyms":["absent pulmonary valve syndrome"," apvs - absent pulmonary valve syndrome"," congenital absence of the pulmonary valve"," pva"]}