The Human Phenotype Ontology (HPO) consists of a well-defined and comprehensive set of more than 12,000 terms, a standard structured terminology regarding phenotypic abnormalities observed in human disease, and their relationships. The HPO project provides a collection of over 250,000 computational assertions that a disease (rare or common) is associated with a given phenotypic abnormality. The project has continuously grown since the initial publication in 2008, when it was introduced to allow computational analysis of phenotypic data with an adequate data structure. Since then, it has focused on providing a resource useful for data interoperability across clinical and research settings.
Biological and Medical Ontologies: Human Phenotype Ontology (HPO)
A. Bernasconi;M. Masseroli
2019-01-01
Abstract
The Human Phenotype Ontology (HPO) consists of a well-defined and comprehensive set of more than 12,000 terms, a standard structured terminology regarding phenotypic abnormalities observed in human disease, and their relationships. The HPO project provides a collection of over 250,000 computational assertions that a disease (rare or common) is associated with a given phenotypic abnormality. The project has continuously grown since the initial publication in 2008, when it was introduced to allow computational analysis of phenotypic data with an adequate data structure. Since then, it has focused on providing a resource useful for data interoperability across clinical and research settings.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
