human traits Flashcards
congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes.
Albinism
congenital disorder
birth defect,
rare group of genetic disorders that cause the skin, hair, or eyes to have little or no color.
Albinism
ataxia-telangiectasia syndrome or
Louis–Bar syndrome
black urine disease
Alkaptonuria
a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, which occur in protein.
Alkaptonuria (
is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine.
Cystic fibrosis
a genetic disorder characterized by progressive muscle degeneration and weakness.
Duchenne muscular dystrophy
DMD is caused by an absence of
dystrophin
a rare genetic metabolic disorder that affects an individual’s ability to metabolize the sugar galactose properly.
Galactosemia
bleeding disorder that slows the blood clotting process.
Hemophilia
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
waste product of normal chemical processes and is found in blood and urine.
Uric acid
an inherited disorder that increases the levels of a substance called phenylalanine in the blood
Phenylketonuria
) causes your body to produce abnormally shaped red blood cells.
Sickle cell anemia
a form of short-limbed dwarfism.
Dom
Achondroplasia
achondroplasia literally means
“without cartilage formation.”
is a shortening of the fingers and toes due to unusually short bones.
dom
Brachydactyly
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
