{"Name":"Hypoplastic right heart syndrome","DiseaseID__c":"GARD:0002922","id":2922,"encodedName":"hypoplastic-right-heart-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hypoplastic right heart syndrome","Xref_IDs__c":"268180007; C0344963; C99053; DOID:0070315; MEDGEN:83376; MONDO:0020291; ORPHA:98723; Q22.6","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0020291","Disease_Description__c":"A rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia.","GARD_Name__c":"Hypoplastic right heart syndrome","GARD_Synonym__c":"pseudotruncus arteriosus; right hypoplastic heart syndrome","Curated_Disease_Description_Source__c":"GARD:0002922","Curated_Disease_Description__c":"Hypoplastic right heart syndrome is a rare heart defect, present at birth (congenital), that results in low blood oxygen levels. It is caused by underdevelopment of the structures on the right side of the heart (tricuspid valve, right ventricle, pulmonary valve, and pulmonary artery) and commonly associated with atrial septal defect. The underdeveloped right side of the heart is unable to provide enough blood flow to the body, leading to low blood oxygen and cyanosis. It differs from hypoplastic left heart syndrome which involves the underdevelopment of the structures on the left side of the heart.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:98723","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020291","ORPHANET_ID__c":"ORPHA:98723","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de corazón derecho hipoplásico","Spanish_Description_Source__c":"ORPHA:98723","Spanish_Description__c":"Es una malformación cardíaca congénita cianótica poco frecuente por infradesarrollo de las estructuras del lado derecho del corazón (válvula tricúspide, VD, válvula pulmonar y arteria pulmonar) comúnmente asociada con una comunicación interauricular tipo ostium secundum. El flujo sanguíneo pulmonar está disminuido y se produce un cortocircuito de derecha a izquierda a nivel auricular, lo que resulta en disnea, cansancio, arritmias auriculares, insuficiencia cardíaca derecha, hipoxemia y abortos repetidos debidos principalmente a hipoxemia y cianosis. Se han caracterizado dos subtipos de HRHS: atresia pulmonar con septo ventricular intacto e hipoplasia ventricular derecha.","Spanish_Disease_Name__c":"síndrome de corazón derecho hipoplásico","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":"Hypoplastic right heart syndrome is a rare heart defect, present at birth (congenital), that results in low blood oxygen levels. It is caused by underdevelopment of the structures on the right side of the heart (tricuspid valve, right ventricle, pulmonary valve, and pulmonary artery) and commonly associated with atrial septal defect. The underdeveloped right side of the heart is unable to provide enough blood flow to the body, leading to low blood oxygen and cyanosis. It differs from hypoplastic left heart syndrome which involves the underdevelopment of the structures on the left side of the heart.","Curated_Disease_Description_Source__c":"GARD:0002922","GARD_Synonym__c":"pseudotruncus arteriosus; right hypoplastic heart syndrome","Name":"Hypoplastic right heart syndrome","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Conquering CHD","Website__c":"https://www.conqueringchd.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:98723"}],"External_Identifier_Disease__c":[{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q22.6","Source__c":"MONDO:0020291","Xref__c":"Q22.6"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=83376","Source__c":"C0344963","Xref__c":"MEDGEN:83376"},{"URL__c":"https://www.orpha.net/en/disease/detail/98723","Source__c":"C0344963; MONDO:0020291; ORPHA:98723","Xref__c":"ORPHA:98723"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0344963","Source__c":"C0344963","Xref__c":"C0344963"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070315","Source__c":"MONDO:0020291","Xref__c":"DOID:0070315"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=268180007","Source__c":"C0344963; MONDO:0020291","Xref__c":"268180007"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C99053","Source__c":"C0344963; MONDO:0020291","Xref__c":"C99053"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020291","Source__c":"GARD:0002922","Xref__c":"MONDO:0020291"}],"tags":{"Specialist":["Cardiology","Congenital Heart Disease","Pediatrics"],"Disease Category":["Congenital Abnormality"]},"synonyms":["pseudotruncus arteriosus"," right hypoplastic heart syndrome"]}