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Items: 1 to 20 of 35

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. The damage to biological tissues is caused by superoxide and other free radicals generated by many factors, including exposure to alcohol, medications, trauma, cold, toxins, and radiation or by antimicrobial cellular immunity, metabolic abnormality, or "normal" aging; not synonymous with hypoxia or hyperoxia. Oxidative stress promotes a range of degenerative disorders, including cancer, diabetes, premature aging, Alzheimer's, and many others. [from NCI]

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

Fibrosis

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

Hepatic fibrosis

MedGen UID:
116093
Concept ID:
C0239946
Disease or Syndrome
4.

Stress

The negative mental, emotional, and physical reactions that occur when environmental stressors are perceived as exceeding the individual's adaptive capacities. [from NCI]

MedGen UID:
20971
Concept ID:
C0038435
Finding
5.

Transforming growth factor beta 1

A subtype of transforming growth factor beta that is synthesized by a wide variety of cells. It is synthesized as a precursor molecule that is cleaved to form mature TGF-beta 1 and TGF-beta1 latency-associated peptide. The association of the cleavage products results in the formation a latent protein which must be activated to bind its receptor. Defects in the gene that encodes TGF-beta1 are the cause of CAMURATI-ENGELMANN SYNDROME. [from MeSH]

MedGen UID:
316445
Concept ID:
C1704256
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
6.

Superoxide dismutase

An oxidoreductase that catalyzes the reaction between SUPEROXIDES and hydrogen to yield molecular oxygen and hydrogen peroxide. The enzyme protects the cell against dangerous levels of superoxide. [from MeSH]

MedGen UID:
52578
Concept ID:
C0038838
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
7.

Lipid peroxidation

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

MedGen UID:
44170
Concept ID:
C0023775
Molecular Function
8.

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
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
9.

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
Biologically Active Substance; Organic Chemical; Pharmacologic Substance
10.

Error occurred: cannot get document summary

ID:
1461796

11.

Proximal spinal muscular atrophy

Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. [from ORDO]

MedGen UID:
832697
Concept ID:
CN205570
Disease or Syndrome
12.

Segmental odontomaxillary dysplasia

Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur. [from ORDO]

MedGen UID:
831493
Concept ID:
CN227562
Finding
13.

Improved

Condition changed and/or recovered [from CCC]

MedGen UID:
512204
Concept ID:
C0184511
Finding
14.

Primary cortisol resistance

MedGen UID:
443921
Concept ID:
C2930863
Disease or Syndrome
15.

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
16.

Well Differentiated Liposarcoma

A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation. [from NCI]

MedGen UID:
237164
Concept ID:
C1370889
Neoplastic Process
17.

Hyperaldosteronism, familial, type I

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 (HALD2; 605635) has been mapped to chromosome 7p22. Familial hyperaldosteronism type III (HALD3; 613677) is caused by mutation in the KCNJ5 gene (600734) on chromosome 11q24. Familial hyperaldosteronism type IV (HALD4; 617027) is caused by mutation in the CACNA1H gene (607904) on chromosome 16p13. [from OMIM]

MedGen UID:
224694
Concept ID:
C1260386
Disease or Syndrome
18.

Possible

Capable of happening or occurring. [from NCI]

MedGen UID:
137646
Concept ID:
C0332149
Finding
19.

Septo-optic dysplasia sequence

M icrophthalmia,anophthalmia, andcoloboma comprise the MAC spectrum of ocular malformations. Microphthalmia refers to a globe with a total axial length that is at least two standard deviations below the mean for age. Anophthalmia refers to complete absence of the globe in the presence of ocular adnexa (eyelids, conjunctiva, and lacrimal apparatus). Coloboma refers to the ocular malformations that result from failure of closure of the optic fissure. Chorioretinal coloboma refers to coloboma of the retina and choroid. Iris coloboma causes the iris to appear keyhole-shaped. Microphthalmia, anophthalmia, and coloboma may be unilateral or bilateral; when bilateral they may occur in any combination. [from GeneReviews]

MedGen UID:
90926
Concept ID:
C0338503
Congenital Abnormality
20.

Spinal muscular atrophy

Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adolescence or young adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes; however, it is now apparent that the phenotype ofSMN1-associated SMA spans a continuum without clear delineation of subtypes. Poor weight gain with growth failure, restrictive lung disease, scoliosis, joint contractures, and sleep difficulties are common complications. [from GeneReviews]

MedGen UID:
7755
Concept ID:
C0026847
Disease or Syndrome
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