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An organism’s observable physical and biochemical characteristics directly influenced by the genotype (genetic factor) and/or environment. In humans, this is often the observed signs and symptoms of a condition.

Use in clinical context

An individual’s phenotype, in addition to referring to non-health related characteristics such as eye colour, can also be used by healthcare professionals as an indication that the person may have a particular condition. The phenotypic information could then influence the direction of the clinical investigation. For instance, an individual may present with features associated with a congenital eye condition, so it may be appropriate to screen the individual for variants in genes known to be linked to the particular phenotype.

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Last updated on 7th June, 2019