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Genetic disorders

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

Contributors in Genetic disorders

Genetic disorders

Cornea conical

Health care; Genetic disorders

A noninflammatory, usually bilateral protrusion of the cornea, the apex being displaced downward and nasally. It occurs most commonly in females at about puberty. The cause is unknown but hereditary ...

Phosphorus

Health care; Genetic disorders

A nonmetallic element that is found in the blood, muscles, nerves, bones, and teeth and is a component of adenosine triphosphate (ATP; the primary energy source for the body's cells).

Serine

Health care; Genetic disorders

A non-essential amino acid occurring in natural form as the L-isomer. It is synthesised from glycine or threonine. It is involved in the biosynthesis of purines, pyrimidines, and other amino acids.

Glycine

Health care; Genetic disorders

A non-essential amino acid. It is found primarily in gelatin and silk fibroin and used therapeutically as a nutrient. It is also a fast inhibitory neurotransmitter.

Para-tyrosine

Health care; Genetic disorders

A non-essential amino acid. In animals it is synthesised from phenylalanine. It is also the precursor of epinephrine, thyroid hormones, and melanin.

Collecting tubule

Health care; Genetic disorders

A nonsecretory tubule that receives urine from several nephrons and discharges it into the pelvis of the kidney - called also collecting duct.

Tyrosine

Health care; Genetic disorders

A non-essential amino acid. In animals it is synthesised from phenylalanine. It is also the precursor of epinephrine, thyroid hormones, and melanin.

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