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"Phenotype" simply refers to an observable trait. "Pheno" simply means "observe" and comes from the same root as the word "phenomenon". It can refer to anything from a common trait, such as height or hair color, to presence or absence of a disease.

A clinical phenotype is a set of observable signs, symptoms, and behavioral features associated with a human disorder. The phenotype includes multiple features or traits and it may be categorical (male or female sex) or quantitative (glucose levels or hearing thresholds). These observable variations in the phenotype of a disorder is known in Mendelian genetics as expressivity and it may range from mild to severe. A clinical phenotype would be the presentation of a disease in a given individual.

Frequently, phenotypes are related and may be used distinguish differences and similarities in DNA sequence among individuals within a disease grouping. Phenotypes are greatly influenced by environmental factors that can have genetic effects. Sometimes a phenotype can be directly related to a genotype, however rare is there a one-to-one correlation between a genotype and a phenotype. What one eats, how much one exercises, how much one sleeps, etc. are environmental influences which may impact the phenotype in a specific individual.

Challenges associated with integration of data using phenotypes. Published relationships are shown in solid lines. Dashed lines show relationships that require computation and/or data integration. Around the perimeter of the figure are examples of the types of questions that are difficult to answer using traditional (nonintegrative) methods. These questions are divided into “clinical,” “basic,” and “translational” research categories.*

GENETICS August 1, 2016 vol. 203 no. 4 1491-1495;

TO solve challenging disease problems, we need to unify the heterogeneous data that relates genomics to disease traits. Learn more about the challenges.


This table lists human phenotypes that were found to be linked to the gene by the Human Phenotype Ontology project. The HPO project has generated a set of 10,088 classes (terms) describing human phenotypic abnormalities. Links between phenotypes to genes are generated using the information about the phenotypes of a particular syndrome and the corresponding genes that are known to cause this syndrome when mutated. For each gene, the table first displays the most specific relevant HPO-classes (in bold), followed by their ancestor terms. (This approach implements the transitivity of the HPO annotation method).


Human Phenotype Ontology for WDR45 Gene
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