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Items: 1 to 20 of 27

1.

Phytosterol

A class of organic compounds known as sterols or STEROIDS derived from plants. [from MeSH]

MedGen UID:
18470
Concept ID:
C0031866
Biologically Active Substance; Organic Chemical; Pharmacologic Substance
2.

Ezetimibe

An azetidine derivative and ANTICHOLESTEREMIC AGENT that inhibits intestinal STEROL absorption. It is used to reduce total CHOLESTEROL; LDL CHOLESTEROL, and APOLIPOPROTEINS B in the treatment of HYPERLIPIDEMIAS. [from MeSH]

MedGen UID:
256233
Concept ID:
C1142985
Organic Chemical; Pharmacologic Substance
3.

Cholate

An ester or salt of the bile acid cholic acid that is synthesized in the liver from cholesterol, with surfactant and signaling activities in the liver and intestine. In the intestine, cholate acts as a surfactant that promotes the absorption of dietary lipids and fat-soluble vitamins. In the liver, cholate's surfactant activity facilitates biliary excretion of xenobiotics and metal cations. Cholate binds to nuclear receptors, including farnesoid X receptor (FXR), pregnane X receptor (PXR), and the vitamin D receptor (VDR), which directly modulate gene transcription. Cholate may also be used as a biomarker for hepatotoxicity. [from NCI]

MedGen UID:
91931
Concept ID:
C0109497
Biologically Active Substance; Organic Chemical; Pharmacologic Substance
4.

Sitosterolemia

Sitosterolemia is characterized by: Tendon xanthomas or tuberous (i.e., planar) xanthomas that can occur in childhood and in unusual locations (heels, knees, elbows and buttocks); Premature atherosclerosis which can lead to angina, aortic valve involvement, myocardial infarction, and sudden death; Hemolytic anemia, abnormally shaped erythrocytes (stomatocytes), and large platelets (macrothrombocytopenia). On occasion, the abnormal hematologic findings may be the initial presentation. The phenotypic spectrum of sitosterolemia is probably not fully appreciated due to underdiagnosis and the fact that clinical findings in infants are likely to be highly dependent on diet. [from GTR]

MedGen UID:
87466
Concept ID:
C0342907
Congenital Abnormality
5.

UPREG

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
6.

Hypercholesterolaemia

A condition with abnormally high levels of CHOLESTEROL in the blood. It is defined as a cholesterol value exceeding the 95th percentile for the population. [from MeSH]

MedGen UID:
5687
Concept ID:
C0020443
Disease or Syndrome
7.

Down-regulation

A negative 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:
4386
Concept ID:
C0013081
Molecular Function
8.

Primary hypercholesterolemia

MedGen UID:
575264
Concept ID:
C0342879
Disease or Syndrome
9.

Cranioosteoarthropathy

A form of primary hypertrophic osteoarthropathy with characteristics of delayed closure of the cranial sutures and fontanelles, digital clubbing, arthropathy, and periostosis. To date, about 30 cases have been reported. May also be associated with congenital heart disease. It is caused by mutations in the HPGD gene (4q33-q34) and is inherited as an autosomal recessive trait. [from SNOMEDCT_US]

MedGen UID:
394824
Concept ID:
C2678439
Disease or Syndrome
10.

Hypercholesterolemia

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

MedGen UID:
312004
Concept ID:
C1522133
Finding
11.

Localized

Being confined or restricted to a particular location. [from HPO]

MedGen UID:
98236
Concept ID:
C0392752
Spatial Concept
12.

Sitosterol

MedGen UID:
65113
Concept ID:
C0220914
Organic Chemical; Pharmacologic Substance
13.

Lipemias

Abnormally high level of lipids in blood. [from MeSH]

MedGen UID:
317303
Concept ID:
C1706412
Finding
14.

Dyslipoproteinemias

MedGen UID:
108970
Concept ID:
C0598784
Pathologic Function
15.

Abnormality of lipid metabolism

A lipoprotein metabolism disorder characterized by decreased levels of high-density lipoproteins, or elevated levels of plasma cholesterol, low-density lipoproteins and/or triglycerides. [from NCI]

MedGen UID:
66067
Concept ID:
C0242339
Disease or Syndrome
16.

Disorder of lipid metabolism

An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production. [from NCI]

MedGen UID:
57587
Concept ID:
C0154251
Disease or Syndrome
17.

Sitosterols

A family of sterols commonly found in plants and plant oils. Alpha-, beta-, and gamma-isomers have been characterized. [from MeSH]

MedGen UID:
52358
Concept ID:
C0037215
Organic Chemical; Pharmacologic Substance
18.

Nutritional and Metabolic Diseases

A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. [from MeSH]

MedGen UID:
45164
Concept ID:
C0028715
Disease or Syndrome
19.

Metabolic disease

A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. [from NCI]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
20.

Glycerides

GLYCEROL esterified with FATTY ACIDS. [from MeSH]

MedGen UID:
9055
Concept ID:
C0017860
Organic Chemical; Pharmacologic Substance
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