Term	Explanation
Allele	One of two or more forms of the DNA sequence of a particular gene. Each gene can have different alleles and sometimes different alleles can result in different traits, such as colour.
Amino acid	Molecules containing an amine group, a carboxylic acid group and a side chain that varies between different amino acids. Amino acids are used in every cell of the body and are used to build the proteins needed to survive.
Arachnodactyly	A condition in which the fingers are abnormally long and slender in comparison to the palm of the hand.
Co‐factor	A substance that must be associated with an enzyme for the enzyme to function.
Consanguinity	Relationship by blood or by a common ancestor.
Dolichostenomelia	A condition in which the limbs are unusually long.
Enzyme	An enzyme is a protein formed by the body that acts as a catalyst to cause a certain desired reaction. Enzymes are very specific. Each enzyme is designed to initiate a specific response with a specific result.
False‐negative result	When an individual is found to have a negative test result, but in actual fact has the condition being tested for.
False‐positive result	When an individual is found to have a positive test result, but in actual fact does not have the condition being tested for.
Gene	A hereditary unit consisting of a sequence of DNA that occupies a specific location on a chromosome and determines a particular characteristic in an organism.
Phenotype	The expression of a specific trait, such as stature or blood type, based on genetic and environmental influences and the interaction between the two.
Scoliosis	A medical condition in which a person's spine is curved from side to side.
Thromboembolic disease	When a blood clot breaks off from where it has formed and travels through the bloodstream. Eventually, the blood clot will get trapped inside a blood vessel that is too small to let it pass.
Thrombotic episodes	The formation, presence, or development of a blood clot.