| HP:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| 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:0000316 | Hypertelorism | |
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| HP:0001660 | Persistant truncus arteriosus | "Persistent Truncus Arteriosus results from a failure of the truncus arteriosus to close." [HPO:curators] |
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| HP:0001669 | Transposition of the great vessels | |
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| HP:0001674 | Complete atrioventricular canal | "A congenital malformation characterized by atrial septal defect, ventricular septal defect), and abnormalities of the tricuspid and mitral valves." [HPO:curators] |
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| HP:0001680 | Coarctation of aorta | "Coarctation of the aorta is a narrowing or constriction of the aorta just distal to the origin of the left subclavian artery." [HPO:curators] |
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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:0001719 | Double outlet right ventricle | |
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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:0001939 | Metabolism abnormality | |
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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: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:0003829 | Incomplete penetrance | |
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| HP:0006695 | Tricuspid and mitral valves are replaced by a single inlet valve | |
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| HP:0010055 | Broad hallux | |
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| HP:0011537 | Left atrial isomerism | "In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest." [DDD:dbrown, pmid:3408620] |
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| HP:0011599 | Mesocardia | "Mesocardia is a abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane." [DDD:dbrown, HPO:probinson] |
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| HP:0100259 | Postaxial polydactyly | "A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe." [HPO:probinson] |
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