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Items: 12

1.

Myocardial steatosis

Steatosis in the myocardium. [from HPO]

MedGen UID:
870552
Concept ID:
C4025000
Finding
2.

Leptin deficiency or dysfunction

Congenital leptin deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. Without treatment, the extreme hunger continues and leads to chronic excessive eating (hyperphagia) and obesity. Beginning in early childhood, affected individuals develop abnormal eating behaviors such as fighting with other children over food, hoarding food, and eating in secret.People with congenital leptin deficiency also have hypogonadotropic hypogonadism, which is a condition caused by reduced production of hormones that direct sexual development. Without treatment, affected individuals experience delayed puberty or do not go through puberty, and may be unable to conceive children (infertile). [from GHR]

MedGen UID:
767138
Concept ID:
C3554224
Disease or Syndrome
3.

Hepatic steatosis

The presence of steatosis in the liver. [from HPO]

MedGen UID:
427871
Concept ID:
CN001278
Finding
4.

Myocardial steatosis

Steatosis in the myocardium. [from HPO]

MedGen UID:
425843
Concept ID:
CN005828
Finding
5.

Hepatic steatosis

The presence of steatosis in the liver. [from HPO]

MedGen UID:
398225
Concept ID:
C2711227
Disease or Syndrome
6.

Fish-eye disease

Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes the clear front surface of the eyes (the corneas) to gradually become cloudy. The cloudiness, which generally first appears in adolescence or early adulthood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals; it aids in many functions of the body but can become harmful in excessive amounts. As fish-eye disease progresses, the corneal cloudiness worsens and can lead to severely impaired vision. [from GHR]

MedGen UID:
83354
Concept ID:
C0342895
Disease or Syndrome
7.

Obesity

Obesity means having too much body fat. It is different from being overweight, which means weighing too much. The weight may come from muscle, bone, fat, and/or body water. Both terms mean that a person's weight is greater than what's considered healthy for his or her height. . Obesity occurs over time when you eat more calories than you use. The balance between calories-in and calories-out differs for each person. Factors that might affect your weight include your genetic makeup, overeating, eating high-fat foods, and not being physically active. . Being obese increases your risk of diabetes, heart disease, stroke, arthritis, and some cancers. If you are obese, losing even 5 to 10 percent of your weight can delay or prevent some of these diseases. For example, that means losing 10 to 20 pounds if you weigh 200 pounds. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
8.

Left ventricular hypertrophy

Enlargement or overgrowth of the myocardium of the left ventricle, due to chronic pressure overload. [from NCI]

MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
9.

Cardiomegaly

Increased size of the heart. [from HPO]

MedGen UID:
5459
Concept ID:
C0018800
Finding
10.

Heart disease

If you're like most people, you think that heart disease is a problem for others. But heart disease is the number one killer in the U.S. It is also a major cause of disability. There are many different forms of heart disease. The most common cause of heart disease is narrowing or blockage of the coronary arteries, the blood vessels that supply blood to the heart itself. This is called coronary artery disease and happens slowly over time. It's the major reason people have heart attacks. Other kinds of heart problems may happen to the valves in the heart, or the heart may not pump well and cause heart failure. Some people are born with heart disease. You can help reduce your risk of heart disease by taking steps to control factors that put you at greater risk:. - Control your blood pressure. - Lower your cholesterol. - Don't smoke. - Get enough exercise. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
5458
Concept ID:
C0018799
Disease or Syndrome
11.

Disorder of cardiovascular system

Any abnormality of the cardiovascular system. [from HPO]

MedGen UID:
2848
Concept ID:
C0007222
Disease or Syndrome
12.

absence of ETC deficiency in muscle

MedGen UID:
810505
Concept ID:
CN224069
Finding
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