The Human Phenotype Ontology in 2021

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…

• E
  E-Rare
• DF
  Deutsche Forschungsgemeinschaft

  Awards: 779257, Gr 970/9-1
• NI
  National Institutes of Health

  Award: 779257
• NH
  National Human Genome Research Institute

  Award: 1RM1HG010860
• NC
  National Cancer Institute