The human phenotype ontology in 2021
Abstract: The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions from clinical experts and researchers from a diverse range of disciplines. Here, we present recent major extensions of the HPO for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas. For example, the seizure subontology now reflects the International League Against Epilepsy (ILAE) guidelines and these enhancements have already shown clinical validity. We present new efforts to harmonize computational definitions of phenotypic abnormalities across the HPO and multiple phenotype ontologies used for animal models of disease. These efforts will benefit software such as Exomiser by improving the accuracy and scope of cross-species phenotype matching. The computational modeling strategy used by the HPO to define disease entities and phenotypic features and distinguish between them is explained in detail.We also report on recent efforts to translate the HPO into indigenous languages. Finally, we summarize recent advances in the use of HPO in electronic health record systems
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
Nucleic acids research. - 49, D1 (2021) , D1207–D1217, ISSN: 1362-4962
- Event
-
Veröffentlichung
- (where)
-
Freiburg
- (who)
-
Universität
- (when)
-
2021
- Creator
- DOI
-
10.1093/nar/gkaa1043
- URN
-
urn:nbn:de:bsz:25-freidok-1749326
- Rights
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:25 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Köhler, Sebastian
- Kindle, Gerhard
- Robinson, Peter N.
- Universität
Time of origin
- 2021
Other Objects (12)
Curation and expansion of human phenotype ontology for defined groups of inborn errors of immunity
The Drosophila phenotype ontology
Speech and language classification in the human phenotype ontology
The cellular microscopy phenotype ontology
Expansion of the human phenotype ontology (HPO) knowledge base and resources
The Xenopus phenotype ontology: bridging model organism phenotype data to human health and development
An ontology of water and land in North Bihar, India★
A new synonym-substitution method to enrich the human phenotype ontology
Implications of mappings between International Classification of Diseases clinical diagnosis codes and Human Phenotype Ontology terms
Jahresbericht 20/21 Forschungsprojekt SCHARF : : Skalenübergreifende Charakterisierung robuster funktionaler Materialsysteme
Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology
Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods
Curation and expansion of human phenotype ontology for defined groups of inborn errors of immunity
The Drosophila phenotype ontology
Speech and language classification in the human phenotype ontology
The cellular microscopy phenotype ontology
Expansion of the human phenotype ontology (HPO) knowledge base and resources
The Xenopus phenotype ontology: bridging model organism phenotype data to human health and development
An ontology of water and land in North Bihar, India★
A new synonym-substitution method to enrich the human phenotype ontology
Implications of mappings between International Classification of Diseases clinical diagnosis codes and Human Phenotype Ontology terms
Jahresbericht 20/21 Forschungsprojekt SCHARF : : Skalenübergreifende Charakterisierung robuster funktionaler Materialsysteme
Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology
Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods
Curation and expansion of human phenotype ontology for defined groups of inborn errors of immunity
The Drosophila phenotype ontology
Speech and language classification in the human phenotype ontology
The cellular microscopy phenotype ontology
Expansion of the human phenotype ontology (HPO) knowledge base and resources
The Xenopus phenotype ontology: bridging model organism phenotype data to human health and development
An ontology of water and land in North Bihar, India★
A new synonym-substitution method to enrich the human phenotype ontology
Implications of mappings between International Classification of Diseases clinical diagnosis codes and Human Phenotype Ontology terms
Jahresbericht 20/21 Forschungsprojekt SCHARF : : Skalenübergreifende Charakterisierung robuster funktionaler Materialsysteme
Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology