| HP:0000068 | Urethral atresia | |
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| HP:0000104 | Renal agenesis | |
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| HP:0000105 | Enlarged kidneys | |
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| HP:0000126 | Hydronephrosis | |
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| HP:0000238 | Hydrocephalus | |
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| HP:0000316 | Hypertelorism | |
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| HP:0000925 | Abnormality of the vertebral column | "Any abnormality of the spine (vertebral column)." [HPO:curators] |
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| HP:0001161 | Polydactyly (hands) | |
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| HP:0001417 | X-linked inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators] |
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| HP:0001419 | X-linked recessive inheritance | "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
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| HP:0001508 | Failure to thrive | |
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| HP:0001629 | Ventricular septal defect | "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [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:0001640 | Cardiomegaly | |
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| HP:0001642 | Pulmonic stenosis | "A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis). Infundibular pulmonic stenosis is mostly caused by overgrowth of the heart muscle wall (hypertrophy of the septoparietal trabeculae). Pulmonic stenosis is often seen as a part of Fallot s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. This malformation is infrequently described as sub-pulmonary stenosis or subpulmonary obstruction." [HPO:curators] |
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| HP:0001643 | Patent ductus arteriosus | |
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| HP:0001651 | Dextrocardia | "A left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side in stead of the left." [HPO:sdoelken] |
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| HP:0001669 | Transposition of the great vessels | |
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| HP:0001746 | Asplenia | "Absence (aplasia) of the spleen." [HPO:curators] |
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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:0001750 | Single ventricle | |
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| HP:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
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| HP:0002575 | Tracheoesophageal fistula | "An abnormal connection (fistula) between the esophagus and the trachea." [HPO:curators] |
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| HP:0003363 | Abdominal situs inversus | "A left-right reversal (or "mirror reflection") of the anatomical location of the abdominal organs." [HPO:curators] |
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| HP:0003468 | Abnormalities of the vertebrae | |
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| HP:0003812 | Phenotypic variability | |
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| HP:0003974 | Absent ossification/absence of radius | |
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| HP:0005792 | Humeral hypoplasia | |
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| HP:0006695 | Tricuspid and mitral valves are replaced by a single inlet valve | |
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| HP:0009623 | Proximally placed thumb | "Proximally displaced thumb." [HPO:curators] |
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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:0012890 | Posteriorly placed anus | "Posterior malposition of the anus." [UToronto:htrang] |
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| HP:0030680 | Abnormality of cardiovascular system morphology | "Any structural anomaly of the heart and great vessels." [] |
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