HPO works by categorizing phenotypic abnormalities into a hierarchy that ranges from general to specific. For example, under the broad category of "neoplasms" (tumors), there are more specific terms such as "breast neoplasm" or "colorectal cancer". Each term is associated with relevant genetic information, clinical descriptions, and sometimes even molecular pathways.
Researchers can use this hierarchical structure to: 1. Identify Patterns: By examining phenotypic patterns, researchers can identify commonalities and differences among patients with similar cancers. 2. Integrate Data: Integrate clinical and genetic data to understand the underlying mechanisms of cancer development and progression. 3. Develop Therapies: Aid in the development of targeted therapies by identifying specific phenotypic manifestations linked to genetic mutations.
