| HPO |
HP:0000098 |
Tall stature |
"A height above that which is expected according to age and gender norms." [HPO:probinson] |
— |
HP:0000002 |
| HPO |
HP:0012499 |
Descending aortic dissection |
"A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space." [HPO:probinson] |
According to the Stanford classification, type B aortic dissection begins beyond brachiocephalic vessels (begins distal to the left subclavian artery). |
HP:0002647 |
| HPO |
HP:0000023 |
Inguinal hernia |
"Protrusion of the contents of the abdominal cavity through the inguinal canal." [HPO:probinson] |
Inguinal hernia appears as a bulge in the groin. |
HP:0004299 |
| HPO |
HP:0000278 |
Retrognathia |
"An abnormality in which the mandible is mislocalised posteriorly." [HPO:probinson] |
— |
HP:0000277 |
| HPO |
HP:0004933 |
Ascending aortic dissection |
"A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space." [HPO:probinson] |
According to the Stanford classification, type A aortic dissection affects the ascending aorta and arch. |
HP:0002647, HP:0031784 |
| HPO |
HP:0000525 |
Abnormality iris morphology |
"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:probinson] |
— |
HP:0000553, HP:0004328 |
| HPO |
HP:0004950 |
Peripheral arterial stenosis |
"Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication." [] |
The ankle-brachial index (ABI; the ratio of systolic blood pressure in the ankle to that in the arm), is a measure of occlusion of peripheral arteries in the leg. Peripheral arterial stenosis may be observed with atherosclerosis and with increased intima media thickness as seen in diseases such as pseudoxanthoma elasticum. The most common cause of peripheral arterial stenosis in patients over 40 years of age is atherosclerosis. Cerebral and coronary arteries are by definition not included in peripheral artery disease. |
HP:0100545 |
| HPO |
HP:0002705 |
High, narrow palate |
"The presence of a high and narrow palate." [HPO:curators] |
— |
HP:0000189, HP:0000218 |
| HPO |
HP:0100749 |
Chest pain |
"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest." [] |
— |
HP:0012531 |
| HPO |
HP:0004959 |
Descending thoracic aorta aneurysm |
"An abnormal localized widening (dilatation) of the descending thoracic aorta." [] |
— |
HP:0012727 |
| HPO |
HP:0004944 |
Dilatation of the cerebral artery |
"The presence of a localized dilatation or ballooning of a cerebral artery." [HPO:probinson] |
Aneurysm is considered a severe form of dilatation. |
HP:0002617, HP:0009145 |
| HPO |
HP:0012763 |
Paroxysmal dyspnea |
"A sudden attack of dyspnea that occurs while the affected person is at rest." [HPO:probinson] |
Paroxysmal nocturnal dyspnea (PND) is a sensation of shortness of breath that awakens the patient, often after 1 or 2 hours of sleep, and is usually relieved in the upright position. |
HP:0002094 |
| HPO |
HP:0000965 |
Cutis marmorata |
"A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather." [HPO:sdoelken] |
— |
HP:0011276 |
| HPO |
HP:0002686 |
Prenatal maternal abnormality |
— |
— |
HP:0001197 |
| HPO |
HP:0002875 |
Exertional dyspnea |
"Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest." [PMID:29763022] |
— |
HP:0002094 |
| HPO |
HP:0002326 |
Transient ischemic attack |
— |
— |
HP:0001297, HP:0002637 |
| HPO |
HP:0001647 |
Bicuspid aortic valve |
"The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps)." [HPO:probinson, PMID:17467434, PMID:24827036] |
A normal aortic valve is composed of three aortic-valve cusps, each semilunar in appearance. The leaflets are housed within a small dilatation of the proximal aorta associated with each cusp, called the sinuses of Valsalva or aortic sinuses, and their association with the respective coronary ostia identifies them: left, right, and non-coronary sinuses. Each cusp is attached to the wall of the aorta by the outward edges of its semicircular border, and the attachment point between each leaflet is called a commissure [PMID:24827036]. |
HP:0031567 |
| HPO |
HP:0001659 |
Aortic regurgitation |
"An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle." [HPO:probinson] |
— |
HP:0031652 |
| HPO |
HP:0002107 |
Pneumothorax |
"Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung." [HPO:probinson] |
— |
HP:0002103 |
| HPO |
HP:0012163 |
Carotid artery dilatation |
"A dilatation (balooning or bulging out of the vessel wall) of a carotid artery." [HPO:probinson] |
— |
HP:0005344 |
| HPO |
HP:0100775 |
Dural ectasia |
"A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level." [HPO:sdoelken] |
Dural ectasia is one of the major manifestations of Marfan syndrome. It may cause low back pain, headaches and neurological signs such as weakness and loss of bowel and bladder function, but in many patients it is asymptomatic. It is also a cause of posterior vertebral scalloping present in radiographs in patients who are diagnosed with Neurofibromatosis. Dural ectasia may also manifest in Ehlers-Danlos Syndrome, cauda equina syndrome and in ankylosing spondylitis. |
HP:0010303 |
| HPO |
HP:0002105 |
Hemoptysis |
"Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." [HPO:probinson] |
— |
HP:0032016 |
| HPO |
HP:0005112 |
Abdominal aortic aneurysm |
"An abnormal localized widening (dilatation) of the abdominal aorta." [] |
— |
HP:0004942 |
| HPO |
HP:0001643 |
Patent ductus arteriosus |
"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences." [HPO:probinson, PMID:20421261] |
— |
HP:0011603 |
| HPO |
HP:0000822 |
Hypertension |
"The presence of chronic increased pressure in the systemic arterial system." [HPO:probinson] |
Hypertension is sustained elevation of resting systolic BP (140 mm Hg or higher), diastolic BP (90 mm Hg or higher), or both. |
HP:0032263 |