The Human Phenotype Ontology in 2021

The Human Phenotype Ontology 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.

Citation:
Kohler S, Gargano M, Matentzoglu N, ..... Baynam G, et al. The Human Phenotype Ontology in 2021. Nucleic Acids Res. 2021;49(D1):D1207-D17.

Keywords:
Neurology; immunology; pulmonology; newborn; epilepsy

Abstract:
The Human Phenotype Ontology 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.