Phenotype (clinical medicine)

For other uses, see Phenotype (disambiguation).

In a nosological sense, the term phenotype can be used in clinical medicine for speaking about the presentation of a disease.[1] The complementary concept in this regard is endotype, which refers to the pathogenesis of the disease ignoring its presentation.[2]

In this context, a phenotype would be any observable characteristic or trait of a disease, such as morphology, development, biochemical or physiological properties, or behavior, without any implication of a mechanism. A clinical phenotype would be the presentation of a disease in a given individual.[citation needed]

Some organizations have their own specialised meaning. For example, the term 'phenotype' in the field of chronic obstructive pulmonary disease (COPD) means "a single or combination of disease attributes that describe differences between individuals with COPD as they relate to clinically meaningful outcomes",[3] but nearly all specialities use this meaning in some way, like in asthma research.[4]

  1. ^ Scheuermann, Richard H.; Ceusters, Werner; Smith, Barry (2009-03-01). "Toward an Ontological Treatment of Disease and Diagnosis". Summit on Translational Bioinformatics. 2009: 116–120. PMC 3041577. PMID 21347182.
  2. ^ Russell, CD; Baillie, JK (April 2017). "Treatable traits and therapeutic targets: Goals for systems biology in infectious disease". Current Opinion in Systems Biology. 2: 140–146. doi:10.1016/j.coisb.2017.04.003. ISSN 2452-3100. PMC 7185428. PMID 32363252.
  3. ^ Miravitlles, Marc; Calle, Myriam; Soler-Cataluña, Juan José (2012-03-01). "Clinical Phenotypes of COPD: Identification, Definition and Implications for Guidelines". Archivos de Bronconeumología. 48 (3) (English ed.): 86–98. doi:10.1016/j.arbr.2012.01.003. PMID 22196477.
  4. ^ Bel, Elisabeth H. (January 2004). "Clinical phenotypes of asthma". Current Opinion in Pulmonary Medicine. 10 (1): 44–50. doi:10.1097/00063198-200401000-00008. PMID 14749605.