| 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:0000023 | Inguinal hernia | |
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| HP:0000098 | Increased body height | |
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| HP:0000139 | Uterine prolapse | |
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| HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
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| HP:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
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| HP:0000278 | Retrognathia | |
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| HP:0000316 | Hypertelorism | |
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| HP:0000525 | Abnormality of the iris | "An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil." [HPO:curators] |
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| HP:0000689 | Dental malocclusion | "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [HPO:curators] |
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| HP:0000766 | Abnormality of the sternum | |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000939 | Osteoporosis | "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] |
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| HP:0000965 | Cutis marmorata | |
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| HP:0000978 | Ecchymoses | |
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| HP:0001065 | Striae distensae | "Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders." [HPO:curators] |
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| HP:0001166 | Arachnodactyly | "Abnormally long and slender fingers ("spider fingers")." [HPO:curators] |
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| HP:0001388 | Joint laxity | |
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| HP:0001537 | Umbilical hernia | "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators] |
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| HP:0001634 | Mitral valve prolapse | |
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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:0001647 | Bicuspid aortic valve | "The presence of a bicuspid `aortic valve` (FMA:7236)." [HPO:probinson] |
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| HP:0001653 | Mitral regurgitation | "An `abnormality of the mitral valve` (HP:0001633) characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [HPO:probinson] |
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| HP:0001659 | Aortic insufficiency | "An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle." [HPO:curators] |
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| HP:0001677 | Coronary artery disease | |
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| HP:0001712 | Left ventricular hypertrophy | |
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| HP:0001763 | Pes planus | "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators] |
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| HP:0002105 | Hemoptysis | "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." [HPO:curators] |
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| HP:0002107 | Pneumothorax | |
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| HP:0002138 | Subarachnoid hemorrhage | |
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| HP:0002140 | Ischemic stroke | |
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| HP:0002326 | Transient ischemic attack | |
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| HP:0002616 | Aortic root dilatation | |
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| HP:0002647 | Aortic dissection | "Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta." [HPO:curators] |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002686 | Prenatal maternal abnormality | |
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| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [HPO:curators] |
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| HP:0002875 | Exertional dyspnea | |
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| HP:0003179 | Protrusio acetabuli | "Protrusion of the acetabulum, which is the socket that together with the head of the femur forms the heep joint. The protrusion is the result of increased depth of the socket and results in medial displacement of the femoral head." [HPO:curators] |
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| HP:0003302 | Spondylolisthesis | |
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| HP:0004933 | ascending aortic dissection | |
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| HP:0004942 | Aortic aneurysms | |
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| HP:0004944 | Cerebral aneurysm | "The presence of a localized dilatation or ballooning of a cerebral artery." [HPO:curators] |
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| HP:0004950 | Peripheral arterial disease | |
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| HP:0004959 | Dilatation of the descending thoracic aorta | |
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| HP:0005086 | Knee osteoarthritis | |
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| HP:0005110 | Atrial fibrillation | |
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| HP:0005112 | Dilatation of the abdominal aorta | |
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| HP:0005116 | Arterial tortuosity | "Abnormal tortuous (i.e., twisted) form of arteries." [HPO:curators] |
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| HP:0005162 | Impaired left ventricular function | |
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| HP:0008419 | Degeneration of intervertebral disks | |
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| HP:0008843 | Hip osteoarthritis | |
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| HP:0010886 | Osteochondrosis dissecans | "A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage." [HPO:sdoelken] |
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| HP:0011106 | Hypovolemia | "An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood." [HPO:probinson] |
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| HP:0012163 | Carotid artery aneurysm | "A aneurysm (balooning or bulging out of the vessel wall) of a carotid artery." [HPO:probinson] |
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| HP:0012385 | Camptodactyly | "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension." [HPO:probinson] |
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| HP:0012499 | Descending aortic dissection | "A separation of the layers within the wall of the `descending aorta` (FMA:3784). Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space." [HPO:probinson] |
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| HP:0012763 | Paroxysmal dyspnea | "A sudden attack of dyspnea that occurs while the affected person is at rest." [HPO:probinson] |
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| HP:0100749 | Chest pain | |
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| HP:0100775 | Dural ectasia | "A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level." [HPO:sdoelken] |
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| HP:0200146 | Cystic medial necrosis of the aorta | |
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