When caused by pathogens (i.e. Plasmodium ssp. in malaria), even in the scientific literature, the term disease is often misleadingly used in the place of its causal agent, viz. the pathogen. This language habitat can cause confusion in the communication of the cause-effect principle in epidemiology, and as such it should be strongly discouraged.

In humans, disease is often used more broadly to refer to any condition that causes pain, dysfunction, distress, social problems, or death to the person afflicted, or similar problems for those in contact with the person. In this broader sense, it sometimes includes injuries, disabilities, disorders, syndromes, infections, isolated symptoms, deviant behaviors, and atypical variations of structure and function, while in other contexts and for other purposes these may be considered distinguishable categories. Diseases can affect people not only physically, but also emotionally, as contracting and living with a disease can alter the affected person's perspective on life.