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Items: 1 to 20 of 32

1.

Deacetylation

Deacetylation is the covalent chemical or post-translational biochemical removal of an acetyl group(s) from organic compounds. [from NCI]

MedGen UID:
268332
Concept ID:
C1511737
Molecular Function
2.

Mitochondrial inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). [from HPO]

MedGen UID:
165802
Concept ID:
C0887941
Genetic Function
3.

Oxidation

The process of oxidizing; the addition of oxygen to a compound accompanied by a loss of electrons. [from NCI]

MedGen UID:
18242
Concept ID:
C0030011
Molecular Function
4.

Nicotinamide adenine dinucleotide

A coenzyme composed of ribosylnicotinamide 5'-diphosphate coupled to adenosine 5'-phosphate by pyrophosphate linkage. It is found widely in nature and is involved in numerous enzymatic reactions in which it serves as an electron carrier by being alternately oxidized (NAD+) and reduced (NADH). (Dorland, 27th ed) [from MeSH]

MedGen UID:
44575
Concept ID:
C0027270
Biologically Active Substance; Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
5.

Lysine

an essential amino acid [from CHV]

MedGen UID:
7421
Concept ID:
C0024337
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
6.

Fasting

No enteral intake of foot or liquids whatsoever, no smoking. Typically 6 to 8 hours before anesthesia.  [from HL7]

MedGen UID:
5129
Concept ID:
C0015663
Finding
7.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
8.

Disorder of fatty acid metabolism

A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources. [from NCI]

MedGen UID:
468968
Concept ID:
C0268634
Disease or Syndrome
9.

Neutrophil actin dysfunction

MedGen UID:
338036
Concept ID:
C1850380
Disease or Syndrome
10.

Mass of body structure

A benign or malignant pathologic structure in any part of the body, resulting from a neoplastic accumulation of cells, inflammatory cells, or cystic changes. [from NCI]

MedGen UID:
108287
Concept ID:
C0577559
Finding
11.

Localized

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

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

Long chain acyl-CoA dehydrogenase deficiency

A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy. [from NCI]

MedGen UID:
65087
Concept ID:
C0220711
Disease or Syndrome
13.

Stress

Everyone feels stressed from time to time. Not all stress is bad. All animals have a stress response, and it can be life-saving. But chronic stress can cause both physical and mental harm. There are at least three different types of stress:. -Routine stress related to the pressures of work, family, and other daily responsibilities. -Stress brought about by a sudden negative change, such as losing a job, divorce, or illness. -Traumatic stress, which happens when you are in danger of being seriously hurt or killed. Examples include a major accident, war, assault, or a natural disaster. This type of stress can cause post-traumatic stress disorder (PTSD). Different people may feel stress in different ways. Some people experience digestive symptoms. Others may have headaches, sleeplessness, depressed mood, anger, and irritability. People under chronic stress get more frequent and severe viral infections, such as the flu or common cold. Vaccines, such as the flu shot, are less effective for them. Some people cope with stress more effectively than others. It's important to know your limits when it comes to stress, so you can avoid more serious health effects. NIH: National Institute of Mental Health.  [from MedlinePlus]

MedGen UID:
20971
Concept ID:
C0038435
Finding
14.

Acetylation

Acetylation involves the covalent linkage of an acetyl group into an organic molecule. [from NCI]

MedGen UID:
7840
Concept ID:
C0001038
Molecular Function
15.

Disorder of glucose metabolism

Pathological conditions in which the BLOOD GLUCOSE cannot be maintained within the normal range, such as in HYPOGLYCEMIA and HYPERGLYCEMIA. Etiology of these disorders varies. Plasma glucose concentration is critical to survival for it is the predominant fuel for the CENTRAL NERVOUS SYSTEM. [from MeSH]

MedGen UID:
226229
Concept ID:
C1257958
Disease or Syndrome
16.

Striadyne

MedGen UID:
196163
Concept ID:
C0701945
Biologically Active Substance; Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
17.

Atriphos

MedGen UID:
148792
Concept ID:
C0701946
Biologically Active Substance; Nucleic Acid, Nucleoside, or Nucleotide; 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

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. There are different groups of disorders. Some affect the breakdown of amino acids, carbohydrates, or lipids. Another group, mitochondrial diseases, affects the parts of the cells that produce the energy. 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
20.

Carnitine

An amino acid derivative. Carnitine facilitates long-chain fatty acid entry into mitochondria, delivering substrate for oxidation and subsequent energy production. Fatty acids are utilized as an energy substrate in all tissues except the brain. [from NCI]

MedGen UID:
40117
Concept ID:
C0007258
Amino Acid, Peptide, or Protein; Pharmacologic Substance
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