human traits Flashcards

1
Q

congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes.

A

Albinism

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2
Q

congenital disorder

A

birth defect,

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3
Q

rare group of genetic disorders that cause the skin, hair, or eyes to have little or no color.

A

Albinism

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4
Q

ataxia-telangiectasia syndrome or

A

Louis–Bar syndrome

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5
Q

black urine disease

A

Alkaptonuria

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6
Q

a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, which occur in protein.

A

Alkaptonuria (

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7
Q

is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine.

A

Cystic fibrosis

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8
Q

a genetic disorder characterized by progressive muscle degeneration and weakness.

A

Duchenne muscular dystrophy

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9
Q

DMD is caused by an absence of

A

dystrophin

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10
Q

a rare genetic metabolic disorder that affects an individual’s ability to metabolize the sugar galactose properly.

A

Galactosemia

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11
Q

bleeding disorder that slows the blood clotting process.

A

Hemophilia

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12
Q

a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid.

A

Lesch-Nyhan syndrome

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13
Q

waste product of normal chemical processes and is found in blood and urine.

A

Uric acid

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14
Q

an inherited disorder that increases the levels of a substance called phenylalanine in the blood

A

Phenylketonuria

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15
Q

) causes your body to produce abnormally shaped red blood cells.

A

Sickle cell anemia

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16
Q

a form of short-limbed dwarfism.

A

Dom

Achondroplasia

17
Q

achondroplasia literally means

A

“without cartilage formation.”

18
Q

is a shortening of the fingers and toes due to unusually short bones.

A

dom

Brachydactyly

19
Q

a group of connective tissue disorders that can be inherited and are varied both in how affect the body and in their genetic causes.

A

Ehlers-Danlos syndromes