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Items: 13

1.

Oxygen

An element with atomic symbol O, atomic number 8, and atomic weight 16. [from NCI]

MedGen UID:
45267
Concept ID:
C0030054
Biologically Active Substance; Element, Ion, or Isotope; Pharmacologic Substance
2.

Werner syndrome

Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Individuals with Werner syndrome develop normally until the end of the first decade. The first sign is the lack of a growth spurt during the early teen years. Early findings (usually observed in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by bilateral ocular cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction and cancer are the most common causes of death; the mean age of death in individuals with Werner syndrome is 54 years. [from GTR]

MedGen UID:
12147
Concept ID:
C0043119
Disease or Syndrome
3.

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
4.

Hutchinson-Gilford syndrome

Hutchinson-Gilford progeria syndrome encompasses a spectrum of clinical features that typically develop in childhood and resemble some features of accelerated aging. Although signs and symptoms vary in age of onset and severity, they are remarkably consistent overall. Children with Hutchinson-Gilford progeria syndrome (HGPS) usually appear normal at birth. Profound failure to thrive occurs during the first year. Characteristic facies, with receding mandible, narrow nasal bridge and pointed nasal tip develop. During the first to third year the following usually become apparent: partial alopecia progressing to total alopecia, loss of subcutaneous fat, progressive joint contractures, bone changes, nail dystrophy, and abnormal tightness and/or small soft outpouchings of the skin over the abdomen and upper thighs, and delayed primary tooth eruption. Later findings include low-frequency conductive hearing loss, dental crowding, and partial lack of secondary tooth eruption. Additional findings present in some but not all affected individuals include photophobia, excessive ocular tearing, exposure keratitis, and Raynaud phenomenon. Motor and mental development is normal. Death occurs as a result of complications of severe atherosclerosis, either cardiac disease (myocardial infarction) or cerebrovascular disease (stroke), generally between ages six and 20 years. Average life span is approximately 14.6 years. [from GTR]

MedGen UID:
46123
Concept ID:
C0033300
Disease or Syndrome
5.

Progeria

MedGen UID:
880843
Concept ID:
CN236401
Disease or Syndrome
6.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
7.

Abnormality

A condition that differs from the usual physical or mental state. [from NCI]

MedGen UID:
309940
Concept ID:
C1704258
Finding
8.

Chromosomal anomaly

Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. [from MeSH]

MedGen UID:
954
Concept ID:
C0008625
Cell or Molecular Dysfunction
9.

DNA Repair-Deficiency Disorders

Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE. [from MeSH]

MedGen UID:
327583
Concept ID:
C1563696
Disease or Syndrome
10.

Congenital chromosomal disease

A disorder that results from a chromosomal abnormality. [from NCI]

MedGen UID:
3441
Concept ID:
C0008626
Congenital Abnormality; Disease or Syndrome
11.

Developmental abnormality

Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. [from NCI]

MedGen UID:
1254
Concept ID:
C0000768
Congenital Abnormality
12.

Abnormality of superoxide metabolism

MedGen UID:
870879
Concept ID:
C4025340
Finding
13.

Fibrosis AND/OR repair abnormality

MedGen UID:
690040
Concept ID:
C1265981
Pathologic Function
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