| 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] |
Show
|
| HP:0000023 | Inguinal hernia | |
Show
|
| HP:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
Show
|
| HP:0000098 | Increased body height | |
Show
|
| HP:0000278 | Retrognathia | |
Show
|
| HP:0000316 | Hypertelorism | |
Show
|
| 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] |
Show
|
| HP:0000766 | Abnormality of the sternum | |
Show
|
| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
Show
|
| HP:0000965 | Cutis marmorata | |
Show
|
| HP:0000978 | Ecchymoses | |
Show
|
| HP:0001009 | Telangiectasia | "Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter." [HPO:curators] |
Show
|
| HP:0001166 | Arachnodactyly | "Abnormally long and slender fingers ("spider fingers")." [HPO:curators] |
Show
|
| HP:0001249 | Mental retardation | |
Show
|
| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
Show
|
| HP:0001640 | Cardiomegaly | |
Show
|
| HP:0001643 | Patent ductus arteriosus | |
Show
|
| HP:0001647 | Bicuspid aortic valve | "The presence of a bicuspid `aortic valve` (FMA:7236)." [HPO:probinson] |
Show
|
| 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] |
Show
|
| HP:0001677 | Coronary artery disease | |
Show
|
| 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] |
Show
|
| HP:0002092 | Pulmonary hypertension | |
Show
|
| HP:0002105 | Hemoptysis | "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." [HPO:curators] |
Show
|
| HP:0002107 | Pneumothorax | |
Show
|
| HP:0002119 | Ventriculomegaly | |
Show
|
| HP:0002138 | Subarachnoid hemorrhage | |
Show
|
| HP:0002140 | Ischemic stroke | |
Show
|
| HP:0002326 | Transient ischemic attack | |
Show
|
| 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] |
Show
|
| HP:0002616 | Aortic root dilatation | |
Show
|
| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
Show
|
| HP:0002686 | Prenatal maternal abnormality | |
Show
|
| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [HPO:curators] |
Show
|
| HP:0002789 | Tachypnea | |
Show
|
| HP:0002875 | Exertional dyspnea | |
Show
|
| HP:0004933 | ascending aortic dissection | |
Show
|
| HP:0004942 | Aortic aneurysms | |
Show
|
| HP:0004944 | Cerebral aneurysm | "The presence of a localized dilatation or ballooning of a cerebral artery." [HPO:curators] |
Show
|
| HP:0004950 | Peripheral arterial disease | |
Show
|
| HP:0004959 | Dilatation of the descending thoracic aorta | |
Show
|
| HP:0004970 | Ascending aortic dilation | |
Show
|
| HP:0005112 | Dilatation of the abdominal aorta | |
Show
|
| HP:0005162 | Impaired left ventricular function | |
Show
|
| HP:0005181 | Premature coronary artery disease | |
Show
|
| HP:0007866 | Focal retinal infarction | |
Show
|
| HP:0011106 | Hypovolemia | "An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood." [HPO:probinson] |
Show
|
| HP:0011499 | Mydriasis | "Abnormal dilatation of the iris." [DDD:ncarter] |
Show
|
| HP:0011834 | Moyamoya phenomenon | "A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis." [HPO:probinson] |
Show
|
| HP:0012163 | Carotid artery aneurysm | "A aneurysm (balooning or bulging out of the vessel wall) of a carotid artery." [HPO:probinson] |
Show
|
| 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] |
Show
|
| HP:0012727 | Thoracic aortic aneurysm | "A bulging, weakened area in the wall of the thoracic aorta." [HPO:probinson] |
Show
|
| HP:0012763 | Paroxysmal dyspnea | "A sudden attack of dyspnea that occurs while the affected person is at rest." [HPO:probinson] |
Show
|
| HP:0030891 | Periventricular white matter hyperdensities | "Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles." [PMID:15576652] |
Show
|
| HP:0100659 | Abnormality of the cerebral vasculature | |
Show
|
| HP:0100749 | Chest pain | |
Show
|
| HP:0100770 | Hyperperistalsis | |
Show
|
| HP:0100775 | Dural ectasia | "A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level." [HPO:sdoelken] |
Show
|
| HP:0200146 | Cystic medial necrosis of the aorta | |
Show
|
