Classification of typing and applicability to osteoarthritis management
| Genotype | The complete genetic material of an individual, inclusive of specific variants. |
| Phenotype | Observable characteristics—interaction between genotype and environment. Can include physical characteristics such as symptoms, biochemical and physiological characteristics. |
| Endotype | Condition subtype distinguished by distinct causes or mechanisms, allowing identification of subgroups who require different treatments. |
| Endophenotype/intermediate phenotype | Measurable characteristics related to a particular disease, influenced by genetic factors. They are more proximal to the underlying genetics of the disease than visible clinical symptoms, therefore closely tied to the underlying biological mechanisms. Studying intermediate phenotypes and underlying genetic risk factors and biological mechanisms allows identification of disease endotypes and effective targeted treatments. |