| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0001631 | Atrial septal defect | "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators] |
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| HP:0001646 | Abnormality of the aortic valve | "Any abnormality of the `aortic valve` (FMA:7236)." [HPO:curators] |
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| HP:0001669 | Transposition of the great vessels | |
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| HP:0001696 | Situs inversus | "A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs." [HPO:curators] |
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| HP:0001702 | Abnormality of the tricuspid valve | "An abnormality of the `tricuspid valve` (FMA:7234)." [HPO:probinson] |
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| HP:0001748 | Polysplenia | "Polysplenia is a congenital disease manifested by multiple small accessory spleens." [HPO:curators] |
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| HP:0002566 | Intestinal malrotation | "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [HPO:curators] |
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| HP:0004762 | Hypoplasia of right ventricle | |
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| HP:0004935 | Pulmonary artery atresia | |
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| HP:0004971 | pulmonary artery hypoplasia | |
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| HP:0005160 | Total anomalous pulmonary venous return | "Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium." [HPO:curators] |
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| HP:0006695 | Tricuspid and mitral valves are replaced by a single inlet valve | |
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| HP:0011560 | Mitral atresia | "A congenital defect with failure to open of the mitral valve orifice." [DDD:dbrown] |
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| HP:0011565 | Common atrium | "Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections." [DDD:dbrown, HPO:probinson] |
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| HP:0011611 | Interrupted aortic arch | "Non-continuity of the aortic arch with an atretic point or absent segment." [DDD:dbrown] |
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| HP:0011671 | Interrupted inferior vena cava with azygous continuation | "Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava." [DDD:dbrown, pmid:10550884] |
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| HP:0012020 | Right aortic arch | "Aorta descends on right instead of on the left." [HPO:probinson] |
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| HP:0030853 | Heterotaxy | "An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body." [HPO:probinson] |
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