The RDC and other modern diagnostic criteria in psychiatry were developed on largely descriptive grounds and we consider it most unlikely that the schizoaffective disorder, bipolar type category will map directly onto the underlying biology. We do not believe that ‘schizoaffective disorder’ in general, or RDC schizoaffective disorder in particular, is a neatly defined, discrete, biological diagnostic entity. Our findings do, however, show that it can be useful for the purposes of research (and perhaps also clinical practice) to identify and classify together sets of cases with such clinical features. Whether, in the long run, this is best achieved by using categories, dimensions or some mixture of the two will require future study. Such further work aimed at refining the relationship between clinical phenotype and genetic risk factors has the potential to help psychiatry move towards a system of classification that relates more closely to underlying pathogenesis.