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.
2019
Reference Module in Life Sciences, Encyclopedia of Bioinformatics and Computational Biology
978-0-12-811432-2
Biomedical ontology, Diseases, Genomic variation, Health, Human, Human disease, Human phenotype, Open source ontology, Phenotype, Phenotypic abnormalities
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11311/1076573
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 1
  • ???jsp.display-item.citation.isi??? ND
social impact