Abstract The Human Disease Ontology (DO)(http://www. disease-ontology. org), database
has undergone significant expansion in the past three years. The DO disease classification …

Recently, the pharmaceutical industry has heavily emphasized phenotypic drug discovery
(PDD), which relies primarily on knowledge about phenotype changes associated with …

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 …

It is estimated that 350 million individuals worldwide suffer from rare diseases, which are
predominantly caused by mutation in a single gene. The current molecular diagnostic rate is …

In cross-platform analyses of 174 metabolites, we identify 499 associations (P< 4.9× 10− 10)
characterized by pleiotropy, allelic heterogeneity, large and nonlinear effects and …

Ontologies, Phenotypes, and Big Data Data-organizing methods have been in place for
centuries, but very large data sets have come into being relatively recently. The authors …

Historically, the classification and nomenclature of diseases has not been systematic and
diseases were either classified by cause, presenting symptoms and signs, pathological …

Precision medicine is an integrative approach to cardiovascular disease prevention and
treatment that considers an individual's genetics, lifestyle, and exposures as determinants of …

Deep phenotyping has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …

Abstract The Human Phenotype Ontology (HPO) is a widely used resource that
comprehensively organizes and defines the phenotypic features of human disease …