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Results: 1 to 20 of 32

1.

Oxidative Stress

A disturbance in the prooxidant-antioxidant balance in favor of the former, leading to potential damage. Indicators of oxidative stress include damaged DNA bases, protein oxidation products, and lipid peroxidation products (Sies, Oxidative Stress, 1991, pxv-xvi). [from MeSH]

MedGen UID:
66929
Concept ID:
C0242606
Cell or Molecular Dysfunction
2.

Fibrosis

The formation of fibrous tissue; fibroid or fibrous degeneration. [from NCI]

MedGen UID:
5179
Concept ID:
C0016059
Pathologic Function
3.

Hepatic fibrosis

The presence of `fibrosis` (MPATH:181) of the `liver` (FMA:7197) tissue. [from HPO]

MedGen UID:
504827
Concept ID:
CN001276
Finding
4.

MedGen UID:
116093
Concept ID:
C0239946
5.

Stress

The response of the body to physical, mental, or emotional pressure. This may make a person feel frustrated, angry, or anxious, and may cause unhealthy chemical changes in the body. Untreated, long-term stress may lead to many types of mental and physical health problems. [from NCI]

MedGen UID:
20971
Concept ID:
C0038435
Finding
6.

Transforming Growth Factor beta1

Transforming Growth Factor Beta 1, encoded by the TGFB1 gene, is a member of the TGF-beta family. This secreted multifunctional peptide controls proliferation, differentiation, and other functions in many cell types. Many cells synthesize TGF-Beta 1 and essentially all of them have specific receptors for this peptide. TGF-Beta 1 regulates the actions of many other peptide growth factors and determines a positive or negative direction of their effects. (from Swiss-Prot) [from NCI]

MedGen UID:
316445
Concept ID:
C1704256
Pharmacologic Substance
7.

Superoxide dismutase

a name of an enzyme [from CHV]

MedGen UID:
52578
Concept ID:
C0038838
Pharmacologic Substance
8.

Lipid peroxidation

Peroxidase catalyzed oxidation of lipids using hydrogen peroxide as an electron acceptor. [from MeSH]

MedGen UID:
44170
Concept ID:
C0023775
Molecular Function
9.

olive oil

Produced by pressing olives, Olive Oil has a high content of monounsaturated fats, thought beneficial for health. Major components of the phenolic fraction of olive oil, lignans and pinoresinols are potent antioxidants present in extra virgin (first pressed) oils. Containing vitamins E and F, other antioxidant compounds, foods containing high amounts of lignan precursors may be protective against breast, colon, and prostate cancer, as well as heart diseases. Used mainly in cooking today, olive oil has been used for medicines and in cosmetics. (NCI04) [from NCI]

MedGen UID:
32801
Concept ID:
C0069449
Pharmacologic Substance
10.

Hydroxyproline

A hydroxylated form of the imino acid proline. A deficiency in ASCORBIC ACID can result in impaired hydroxyproline formation. [from MeSH]

MedGen UID:
9352
Concept ID:
C0020388
Pharmacologic Substance
11.

Male gender

A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. (NCI) [from NCI]

MedGen UID:
7446
Concept ID:
C0024554
Finding
12.

Hyaluronic Acid

A glucosaminoglycan consisting of D-glucuronic acid and N-acetyl-D-glucosamine disaccharide units that is a component of connective tissue, skin, vitreous humour, umbilical cord, synovial fluid and the capsule of certain microorganisms contributing to adhesion, elasticity, and viscosity of extracellular substances. [from NCI]

MedGen UID:
6931
Concept ID:
C0020196
Pharmacologic Substance
13.

Primary cortisol resistance

MedGen UID:
443921
Concept ID:
C2930863
Disease or Syndrome
14.

Cataract, coppock-like

Mutations in the CRYGC gene have been found to cause several types of cataract, which have been described as Coppock-like; embryonic, fetal, infantile nuclear; zonular pulverulent; and lamellar. Some patients also exhibit microcornea. Before it was known that mutations in the CRYGC gene cause several types of cataract, this entry was titled 'Cataract, Coppock-like,' with the symbol CCL. [from OMIM]

MedGen UID:
343810
Concept ID:
C1852438
Disease or Syndrome
15.

Glucocorticoid-remediable aldosteronism

Glucocorticoid-remediable aldosteronism is an autosomal dominant disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol (Lifton et al., 1992). There is significant phenotypic heterogeneity, and some individuals never develop hypertension (Stowasser et al., 2000). Genetic Heterogeneity of Familial Hyperaldosteronism Familial hyperaldosteronism type II (605635) has been mapped to chromosome 7p22. Familial hyperaldosteronism type III (613677) is caused by mutation in the KCNJ5 gene (600734) on chromosome 11q24. [from OMIM]

MedGen UID:
224694
Concept ID:
C1260386
Disease or Syndrome
16.

Septo-optic dysplasia sequence

Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010). Also see 516020.0012 for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance. [from OMIM]

MedGen UID:
90926
Concept ID:
C0338503
Congenital Abnormality
17.

Spinal muscular atrophy

Spinal muscular atrophy (SMA) is characterized by progressive muscle weakness resulting from degeneration and loss of the anterior horn cells (i.e., lower motor neurons) in the spinal cord and the brain stem nuclei. Onset ranges from before birth to adolescence or young adulthood. Poor weight gain, sleep difficulties, pneumonia, scoliosis, and joint contractures are common complications. Before the genetic basis of SMA was understood, it was classified into clinical subtypes; however, it is now apparent that the phenotype of SMA associated with disease-causing mutations of SMN1 spans a continuum without clear delineation of subtypes. Nonetheless, classification by age of onset and maximum function achieved is useful for prognosis and management; subtypes include: SMA 0 (proposed), with prenatal onset and severe joint contractures, facial diplegia, and respiratory failure; SMA I, with onset before age six months; SMA II, with onset between age six and 12 months; SMA III, with onset in childhood after age 12 months and ability to walk at least 25 meters achieved; and SMA IV, with adult onset. [from GeneReviews]

MedGen UID:
7755
Concept ID:
C0026847
Disease or Syndrome
18.

Antioxidants

A substance that protects cells from the damage caused by free radicals (unstable molecules made by the process of oxidation during normal metabolism). Free radicals may play a part in cancer, heart disease, stroke, and other diseases of aging. Antioxidants include beta-carotene, lycopene, vitamins A, C, and E, and other natural and manufactured substances. [from NCI]

MedGen UID:
1608
Concept ID:
C0003402
Pharmacologic Substance
19.

Cirrhosis

MedGen UID:
351476
Concept ID:
C1623038
Disease or Syndrome
20.

Physiological stress

The unfavorable effect of environmental factors (stressors) on the physiological functions of an organism. Prolonged unresolved physiological stress can affect HOMEOSTASIS of the organism, and may lead to damaging or pathological conditions. [from MeSH]

MedGen UID:
105278
Concept ID:
C0449430
Pathologic Function

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