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Genetic disorders

Genetic diseases, syndromes, or conditions caused by genetic variations and abnormalities in genes or chromosomes.

Industry: Health care

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Genetic disorders

Presymptomatic testing

Health care; Genetic disorders

Testing of an asymptomatic individual in whom the discovery of a gene mutation indicates certain development of findings related to a specific diagnosis at some future point. A negative result ...

Xenobiotic

Health care; Genetic disorders

Chemical substances that are foreign to the biological system. They include naturally occurring compounds, drugs, environmental agents, carcinogens, insecticides, etc.

Rhabdomyolysis

Health care; Genetic disorders

Necrosis or disintegration of skeletal muscle often followed by myoglobinuria.

Acanthocytes

Health care; Genetic disorders

Erythrocytes with protoplasmic projections giving the cell a thorny appearance.

Macrocephaly

Health care; Genetic disorders

Having or being an exceptionally large head or cranium.

Wheezing

Health care; Genetic disorders

To breathe with difficulty usually with a whistling sound.

Pupil

Health care; Genetic disorders

The aperture in the iris through which light passes.

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