Daniel Tajdar, Dagmar Lühmann, Regina Fertmann, Tim Steinberg, Hendrik van den Bussche, Martin Scherer, Ingmar Schäfer
Low health literacy is associated with higher risk of type 2 diabetes: a cross-sectional study in Germany
BMC public health
abstract human phenotype ontology hpo httpshpojaxorg launched 2008 provide comprehensive logical standard describe computationally analyze phenotypic abnormalities found human disease hpo worldwide standard phenotype exchange hpo grown steadily since inception due considerable contributions clinical experts researchers diverse range disciplines present recent major extensions hpo neurology nephrology immunology pulmonology newborn screening areas example seizure subontology reflects international league epilepsy ilae guidelines enhancements already shown clinical validity present new efforts harmonize computational definitions phenotypic abnormalities across hpo multiple phenotype ontologies used animal models disease efforts benefit software exomiser improving accuracy scope crossspecies phenotype matching computational modeling strategy used hpo define disease entities phenotypic features distinguish explained detailwe also report recent efforts translate hpo indigenous languages finally summarize recent advances use hpo electronic health record systems