Phenotype

A phenotype is an observable characteristic of an organism, arising from its genotype, environment and other influences. Seed shape is a phenotype; $Aa$ is a genotype. The distinction prevents appearance from being mistaken for a complete inherited description. See NHGRI: phenotype.

For a specified binary phenotype $T$, let its penetrance in genotype $g$ be $r_g=P(T\mid g)$. The law of total probability gives $P(T)={\sum }_g{r}_{g}P(g)$. Thus the ideal $Aa\times Aa$ example has $P(T)=r_{AA}/4+r_{Aa}/2+r_{aa}/4$: the familiar $3/4$ follows only when these penetrances are $1,1,0$. A pedigree likelihood keeps inheritance and the conditional phenotype model as separate factors.