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Flashcards in human traits Deck (19):
1

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

Albinism

2

congenital disorder

birth defect,

3

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

Albinism

4

ataxia-telangiectasia syndrome or

Louis–Bar syndrome

5

black urine disease

Alkaptonuria

6

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

Alkaptonuria (

7

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

Cystic fibrosis

8

a genetic disorder characterized by progressive muscle degeneration and weakness.

Duchenne muscular dystrophy

9

DMD is caused by an absence of

dystrophin

10

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

Galactosemia

11

bleeding disorder that slows the blood clotting process.

Hemophilia

12

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

Lesch-Nyhan syndrome

13

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

Uric acid

14

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

Phenylketonuria

15

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

Sickle cell anemia

16

a form of short-limbed dwarfism.

Dom
Achondroplasia

17

achondroplasia literally means

"without cartilage formation."

18

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

dom
Brachydactyly

19

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

Ehlers-Danlos syndromes