Biological and Medical Ontologies: Human Phenotype Ontology (HPO)

The Human Phenotype Ontology, known as HPO, provides a standardized vocabulary of phenotypic abnormalities involved in human disease, including both clinical and pathological features, with definitions and synonyms. It is widely used in the field of human genomics and has been integrated into many databases and tools for the analysis of genetic diseases. The primary aim of the ontology is to provide the scientific community with a thorough and logical framework for delineating phenotypic anomalies associated with human diseases. Moreover, it facilitates computational inference and algorithms for integrated genomics and phenotypic analyses. The HPO is constantly updated, and it is a valuable resource for researchers and clinicians working in the field of human genetics and genomics.