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Items: 17

1.

Aneurysm

An aneurysm is a bulge or ballooning in the wall of an artery. Arteries are blood vessels that carry oxygen-rich blood from the heart to other parts of the body. If an aneurysm grows large, it can burst and cause dangerous bleeding or even death. . Most aneurysms occur in the aorta, the main artery that runs from the heart through the chest and abdomen. Aneurysms also can happen in arteries in the brain, heart and other parts of the body. If an aneurysm in the brain bursts, it causes a stroke. Aneurysms can develop and become large before causing any symptoms. Often doctors can stop aneurysms from bursting if they find and treat them early. They use imaging tests to find aneurysms. Often aneurysms are found by chance during tests done for other reasons. Medicines and surgery are the two main treatments for aneurysms. . NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
8076
Concept ID:
C0002940
Disease or Syndrome
2.

Aortic aneurysm

An aneurysm is a bulge or ballooning in the wall of an artery. Arteries are blood vessels that carry oxygen-rich blood from the heart to other parts of the body. If an aneurysm grows large, it can burst and cause dangerous bleeding or even death. Most aneurysms are in the aorta, the main artery that runs from the heart through the chest and abdomen. There are two types of aortic aneurysm:. -Thoracic aortic aneurysms (TAA) - these occur in the part of the aorta running through the chest. -Abdominal aortic aneurysms (AAA) - these occur in the part of the aorta running through the abdomen. Most aneurysms are found during tests done for other reasons. Some people are at high risk for aneurysms. It is important for them to get screening, because aneurysms can develop and become large before causing any symptoms. Screening is recommended for people between the ages of 65 and 75 if they have a family history, or if they are men who have smoked. Doctors use imaging tests to find aneurysms. Medicines and surgery are the two main treatments. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
362
Concept ID:
C0003486
Disease or Syndrome; Finding
3.

Familial abdominal aortic aneurysm

Abdominal aortic aneurysm is a multifactorial disorder with multiple genetic and environmental risk factors. The disorder may occur as part of a heritable syndrome or in isolation (summary by Kuivaniemi et al., 2003). Genetic Heterogeneity of Abdominal Aortic Aneurysm Mapped loci for abdominal aortic aneurysm include AAA1 on chromosome 19q13; AAA2 (609782) on chromosome 4q31; AAA3 (611891) on chromosome 9p21; and AAA4 (614375) on chromosome 12q13. [from OMIM]

MedGen UID:
797310
Concept ID:
CN206207
Disease or Syndrome
4.

Aortic aneurysm

MedGen UID:
776560
Concept ID:
C2072946
Finding
5.

Abdominal aortic aneurysm

MedGen UID:
505733
Concept ID:
CN004393
Finding
6.

Familial abdominal aortic aneurysm 1

An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm. [from MeSH]

MedGen UID:
56524
Concept ID:
C0162871
Disease or Syndrome
7.

Atherosclerosis

Atherosclerosis is a disease in which plaque builds up inside your arteries. Plaque is a sticky substance made up of fat, cholesterol, calcium, and other substances found in the blood. Over time, plaque hardens and narrows your arteries. That limits the flow of oxygen-rich blood to your body. Atherosclerosis can lead to serious problems, including. -Coronary artery disease. These arteries supply blood to your heart. When they are blocked, you can suffer angina or a heart attack. -Carotid artery disease. These arteries supply blood to your brain. When they are blocked you can suffer a stroke. -Peripheral arterial disease. These arteries are in your arms, legs and pelvis. When they are blocked, you can suffer from numbness, pain and sometimes infections. Atherosclerosis usually doesn't cause symptoms until it severely narrows or totally blocks an artery. Many people don't know they have it until they have a medical emergency. A physical exam, imaging, and other diagnostic tests can tell if you have it. Medicines can slow the progress of plaque buildup. Your doctor may also recommend procedures such as angioplasty to open the arteries, or surgery on the coronary or carotid arteries. Lifestyle changes can also help. These include following a healthy diet, getting regular exercise, maintaining a healthy weight, quitting smoking, and managing stress. . NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
13948
Concept ID:
C0004153
Disease or Syndrome
8.

Aortic diameter

MedGen UID:
662417
Concept ID:
C0579133
Finding
9.

Glucocorticoid deficiency with achalasia

Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. It can lead to severe feeding difficulties and low blood sugar (hypoglycemia). Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison disease include fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin. The third major feature of triple A syndrome is a reduced or absent ability to secrete tears (alacrima). Most people with triple A syndrome have all three of these features, although some have only two.Many of the features of triple A syndrome are caused by dysfunction of the autonomic nervous system. This part of the nervous system controls involuntary body processes such as digestion, blood pressure, and body temperature. People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia).People with this condition may have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size (microcephaly). In addition, affected individuals commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). Some develop optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the brain. Many of the neurological symptoms of triple A syndrome worsen over time.People with triple A syndrome frequently develop a thickening of the outer layer of skin (hyperkeratosis) on the palms of their hands and the soles of their feet. Other skin abnormalities may also be present in people with this condition.Alacrima is usually the first noticeable sign of triple A syndrome, as it becomes apparent early in life that affected children produce little or no tears while crying. They develop Addison disease and achalasia during childhood or adolescence, and most of the neurologic features of triple A syndrome begin during adulthood. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
[from GHR]

MedGen UID:
82889
Concept ID:
C0271742
Disease or Syndrome
10.

COLLAGENASE

Enzymes that catalyze the degradation of collagen by acting on the peptide bonds. [from MeSH]

MedGen UID:
102454
Concept ID:
C0162745
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
11.

Mutagenesis Process

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS. [from MeSH]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function
12.

Endopeptidases

nonEC category which corresponds to EC 3.4.21, EC 3.4.22, EC 3.4.23, EC 3.4.24, and EC 3.4.99. [from CRISP]

MedGen UID:
45389
Concept ID:
C0030946
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
13.

Vascular disorder

The vascular system is the body's network of blood vessels. It includes the arteries, veins and capillaries that carry blood to and from the heart. Problems of the vascular system are common and can be serious. Arteries can become thick and stiff, a problem called atherosclerosis. Blood clots can clog vessels and block blood flow to the heart or brain. Weakened blood vessels can burst, causing bleeding inside the body. . You are more likely to have vascular disease as you get older. Other factors that make vascular disease more likely include. - Family history of vascular or heart diseases. - Pregnancy. - Illness or injury . - Long periods of sitting or standing still. - Any condition that affects the heart and blood vessels, such as diabetes or high cholesterol . - Smoking . - Obesity . Losing weight, eating healthy foods, being active and not smoking can help vascular disease. Other treatments include medicines and surgery.  [from MedlinePlus]

MedGen UID:
22621
Concept ID:
C0042373
Disease or Syndrome
14.

Up-Regulation (Physiology)

A positive regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins. [from MeSH]

MedGen UID:
12003
Concept ID:
C0041904
Molecular Function
15.

Disorder of cardiovascular system

Any abnormality of the cardiovascular system. [from HPO]

MedGen UID:
2848
Concept ID:
C0007222
Disease or Syndrome
16.

Disorder of aorta

Pathological processes involving any part of the AORTA. [from MeSH]

MedGen UID:
1618
Concept ID:
C0003493
Disease or Syndrome
17.

Enzyme deficiency product

MedGen UID:
670963
Concept ID:
C0594552
Pharmacologic Substance
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