Genetic disorders Flashcards

1
Q

genetic disorder

A

also known as hereditary disorder

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2
Q

Cystic fibrosis (CF)

A

a genetic disorder that is present at birth and affects both the respiratory and digestive systems

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3
Q

Down syndrome (DS)

A

a genetic variation that is associated with a characteristic facial appearance, learning disabilities, developmental delays, and physical abnormalities such as heart valve disease

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4
Q

Hemophilia

A

blood-clotting factor is missing. Spontaneous hemorrhages or severe bleeding after the injury

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5
Q

Huntington’s disease

A

nerve degeneration with symptoms that most often appear in midlife. Uncontrolled movements and the loss of some mental abilities.

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6
Q

Muscular dystrophy

A

progressive weakness and degeneration of the skeletal muscles that control movement

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7
Q

Phenylketonuria (PKU)

A

disorder in which essential digestive enzyme phenylalanine hydroxylase is missing (formerly referred to as a mental retardation)

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