Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 19

1.

Hypercholesterolaemia

An increased concentration of cholesterol in the blood. [from HPO]

MedGen UID:
5687
Concept ID:
C0020443
Disease or Syndrome
2.

Primary hypercholesterolemia

MedGen UID:
575264
Concept ID:
C0342879
Disease or Syndrome
3.

Spondylometaepiphyseal dysplasia short limb-hand type

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
4.

Hypercholesterolemia

A laboratory test result indicating an increased amount of cholesterol in the blood. [from NCI]

MedGen UID:
312004
Concept ID:
C1522133
Finding; Laboratory or Test Result
5.

Familial hypercholesterolemia

Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (LDL), which promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis). The disorder occurs in 2 clinical forms: homozygous and heterozygous (summary by Hobbs et al., 1992). [from OMIM]

MedGen UID:
5688
Concept ID:
C0020445
Congenital Abnormality; Disease or Syndrome
6.

Lipoprotein, variant of beta

MedGen UID:
322642
Concept ID:
C1835357
Disease or Syndrome; Finding
7.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
8.

Dyslipidemia

An abnormality in the of lipid metabolism. [from HPO]

MedGen UID:
66067
Concept ID:
C0242339
Disease or Syndrome
9.

Disorder of lipid metabolism

An inherited metabolic disorder that affects the metabolism of the lipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. [from NCI]

MedGen UID:
57587
Concept ID:
C0154251
Disease or Syndrome
10.

Metabolic disease

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. . You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example. .  [from MedlinePlus]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
11.

Hyperlipoproteinemia

Conditions with abnormally elevated levels of LIPOPROTEINS in the blood. They may be inherited, acquired, primary, or secondary. Hyperlipoproteinemias are classified according to the pattern of lipoproteins on electrophoresis or ultracentrifugation. [from MeSH]

MedGen UID:
9363
Concept ID:
C0020476
Disease or Syndrome
12.

Lipedema

Lipedema is a disorder of adipose tissue characterized by fat legs and orthostatic edema. Characteristically, the buttocks and other parts of the lower extremities are symmetrically enlarged owing to accumulation of excess fat and fluid. The condition affects women almost exclusively and, in most instances, represents an exaggeration of the female form (summary by Hines, 1952). [from OMIM]

MedGen UID:
5692
Concept ID:
C0020473
Disease or Syndrome
13.

Hyperapobetalipoproteinemia

Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein. [from HPO]

MedGen UID:
425965
Concept ID:
CN007164
Finding
14.

Hypercholesterolemia, autosomal dominant, type B

Hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). The body needs this substance to build cell membranes, make certain hormones, and produce compounds that aid in fat digestion. Too much cholesterol, however, increases a person's risk of developing heart disease.People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease. This condition occurs when excess cholesterol in the bloodstream is deposited in the walls of blood vessels, particularly in the arteries that supply blood to the heart (coronary arteries). The abnormal buildup of cholesterol forms clumps (plaque) that narrow and harden artery walls. As the clumps get bigger, they can clog the arteries and restrict the flow of blood to the heart. The buildup of plaque in coronary arteries causes a form of chest pain called angina and greatly increases a person's risk of having a heart attack.Inherited forms of hypercholesterolemia can also cause health problems related to the buildup of excess cholesterol in other tissues. If cholesterol accumulates in tendons, it causes characteristic growths called tendon xanthomas. These growths most often affect the Achilles tendons and tendons in the hands and fingers. Yellowish cholesterol deposits under the skin of the eyelids are known as xanthelasmata. Cholesterol can also accumulate at the edges of the clear, front surface of the eye (the cornea), leading to a gray-colored ring called an arcus cornealis.
[from GHR]

MedGen UID:
309962
Concept ID:
C1704417
Disease or Syndrome
15.

Hyperbetalipoproteinemia

MedGen UID:
154289
Concept ID:
C0549399
Finding
16.

hmg coa reductase inhibitors response - Efficacy

MedGen UID:
881063
Concept ID:
CN236511
Sign or Symptom
17.

Hyperlipoproteinemia type 4

MedGen UID:
442139
Concept ID:
CN074246
Disease or Syndrome
18.

Hypercholesterolemia, autosomal dominant, 3

Hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). The body needs this substance to build cell membranes, make certain hormones, and produce compounds that aid in fat digestion. Too much cholesterol, however, increases a person's risk of developing heart disease.People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease. This condition occurs when excess cholesterol in the bloodstream is deposited in the walls of blood vessels, particularly in the arteries that supply blood to the heart (coronary arteries). The abnormal buildup of cholesterol forms clumps (plaque) that narrow and harden artery walls. As the clumps get bigger, they can clog the arteries and restrict the flow of blood to the heart. The buildup of plaque in coronary arteries causes a form of chest pain called angina and greatly increases a person's risk of having a heart attack.Inherited forms of hypercholesterolemia can also cause health problems related to the buildup of excess cholesterol in other tissues. If cholesterol accumulates in tendons, it causes characteristic growths called tendon xanthomas. These growths most often affect the Achilles tendons and tendons in the hands and fingers. Yellowish cholesterol deposits under the skin of the eyelids are known as xanthelasmata. Cholesterol can also accumulate at the edges of the clear, front surface of the eye (the cornea), leading to a gray-colored ring called an arcus cornealis.
[from GHR]

MedGen UID:
355007
Concept ID:
C1863551
Disease or Syndrome
19.

Ezetimibe response

MedGen UID:
334236
Concept ID:
C1842722
Finding
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...