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Another extension adds behavior to the phenotype, since behaviors are also observable characteristics. Behavioral phenotypes can include cognitive, personality, behavioral, and psychiatric patterns that characterize a disorder. Indeed, there is research into the clinical relevance of behavioral phenotypes as they pertain to a range of syndromes. The term "phenotype" has sometimes been incorrectly used as a shorthand for phenotypic difference from wild type, bringing the absurd statement that a mutation has no phenotype.

Although a phenotype is the ensemble of observable characteristics displayed by an organism, the word phenome is sometimes used to refer to a collection of traits, while the simultaneous study of such a collection is referred to as phenomics. Phenomics is an important field of study because it can be used to figure out which genomic variants affect phenotypes which then can be used to explain things like health, disease, and evolutionary fitness.