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hypoplastic right heart syndrome

Disease Summary
Associated Targets (1)
Tbio

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Mondo Description Hypoplastic right-heart syndrome (HRHS) is 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.
Mondo Term and Equivalent IDs
MONDO:0020291:  hypoplastic right heart syndrome
COHD:4145158: 
GARD:0002922: 
ICD10:Q22.6: 
NCIT:C99053: 
Orphanet:98723: 
SCTID:268180007: 
UMLS:C0344963: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found