{"Name":"Congenital mitral stenosis","DiseaseID__c":"GARD:0001496","id":1496,"encodedName":"congenital-mitral-stenosis","IsDeleted":false,"Disease_Name_Full__c":"Congenital mitral stenosis","Xref_IDs__c":"82458004; C0158618; C197882; HP:0011570; MEDGEN:57857; MONDO:0020398; ORPHA:99057; Q23.2","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0020398","Disease_Description__c":"Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar components and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure.","GARD_Name__c":"Congenital mitral stenosis","GARD_Synonym__c":"congenital mitral stenosis (disease); congenital mitral valve stenosis; congenital stenosis of mitral valve; duroziez's disease; hereditary mitral valve stenosis; ms - congenital mitral stenosis","Curated_Disease_Description_Source__c":"MONDO:0020398","Curated_Disease_Description__c":"Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar components and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:99057","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020398","ORPHANET_ID__c":"ORPHA:99057","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Estenosis mitral congénita","Spanish_Description_Source__c":"ORPHA:99057","Spanish_Description__c":"La estenosis mitral congénita, es una malformación cardíaca congénita que comprende un espectro de anomalías del desarrollo morfológicamente heterogéneas que resultan en una obstrucción funcional y anatómica de la entrada al ventrículo izquierdo. La estructura de la válvula mitral se ve afectada a nivel del anillo supravalvular, el anillo, las valvas o los componentes subvalvares e incluye el anillo supravalvular, la fusión de las valvas (anillo intravalvular), la malformación de la válvula mitral en paracaídas y las anomalías de los músculos papilares. Puede tratarse de una anomalía aislada o asociada a otras malformaciones cardíacas. La presentación clínica depende del grado de obstrucción, presencia de insuficiencia, presencia y gravedad de hipertensión pulmonar y presencia de malformaciones cardíacas asociadas. Puede presentarse con síntomas y signos de bajo gasto cardíaco y fallo ventricular derecho, tales como infecciones pulmonares, retraso en el crecimiento, disnea de esfuerzo, tos, cianosis e insuficiencia cardíaca congestiva.","Spanish_Disease_Name__c":"estenosis mitral congénita","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":"Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar components and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure.","Curated_Disease_Description_Source__c":"MONDO:0020398","GARD_Synonym__c":"congenital mitral stenosis (disease); congenital mitral valve stenosis; congenital stenosis of mitral valve; duroziez's disease; hereditary mitral valve stenosis; ms - congenital mitral stenosis","Name":"Congenital mitral stenosis","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"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=57857","Source__c":"C0158618","Xref__c":"MEDGEN:57857"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0158618","Source__c":"C0158618","Xref__c":"C0158618"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q23.2","Source__c":"MONDO:0020398","Xref__c":"Q23.2"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=82458004","Source__c":"C0158618; MONDO:0020398","Xref__c":"82458004"},{"URL__c":"https://www.orpha.net/en/disease/detail/99057","Source__c":"C0158618; MONDO:0020398; ORPHA:99057","Xref__c":"ORPHA:99057"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0011570","Source__c":"C0158618","Xref__c":"HP:0011570"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020398","Source__c":"GARD:0001496","Xref__c":"MONDO:0020398"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C197882","Source__c":"C0158618","Xref__c":"C197882"}],"tags":{"Specialist":["Cardiology","Congenital Heart Disease"],"Disease Category":["Congenital Abnormality"]},"synonyms":["congenital mitral stenosis (disease)"," congenital mitral valve stenosis"," congenital stenosis of mitral valve"," duroziez's disease"," hereditary mitral valve stenosis"," ms - congenital mitral stenosis"]}