The human phenotype ontology in 2017

S Köhler, NA Vasilevsky, M Engelstad… - Nucleic acids …, 2017 - academic.oup.com
Deep phenotyping has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …

[PDF][PDF] The human phenotype ontology in 2017

S Kohler, NA Vasilevsky, M Engelstad, E Foster… - 2017 - repository.ubn.ru.nl
Deep phenotyping has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

S Köhler, L Carmody, N Vasilevsky… - Nucleic acids …, 2019 - academic.oup.com
Abstract The Human Phenotype Ontology (HPO)—a standardized vocabulary of phenotypic
abnormalities associated with 7000+ diseases—is used by thousands of researchers …

<? mode longauthoraffil?> The Human Phenotype Ontology in 2024: phenotypes around the world

MA Gargano, N Matentzoglu, B Coleman… - Nucleic acids …, 2024 - academic.oup.com
Abstract The Human Phenotype Ontology (HPO) is a widely used resource that
comprehensively organizes and defines the phenotypic features of human disease …

The human phenotype ontology in 2021

S Köhler, M Gargano, N Matentzoglu… - Nucleic acids …, 2021 - academic.oup.com
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 …

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

S Köhler, SC Doelken, CJ Mungall, S Bauer… - Nucleic acids …, 2014 - academic.oup.com
Abstract The Human Phenotype Ontology (HPO) project, available at http://www. human-
phenotype-ontology. org, provides a structured, comprehensive and well-defined set of …

The human phenotype ontology: semantic unification of common and rare disease

T Groza, S Köhler, D Moldenhauer, N Vasilevsky… - The American Journal of …, 2015 - cell.com
The Human Phenotype Ontology (HPO) is widely used in the rare disease community for
differential diagnostics, phenotype-driven analysis of next-generation sequence-variation …

Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data

WA Kibbe, C Arze, V Felix, E Mitraka… - Nucleic acids …, 2015 - academic.oup.com
The current version of the Human Disease Ontology (DO)(http://www. disease-ontology. org)
database expands the utility of the ontology for the examination and comparison of genetic …

Deep phenotyping for precision medicine

PN Robinson - Human mutation, 2012 - Wiley Online Library
In medical contexts, the word “phenotype” is used to refer to some deviation from normal
morphology, physiology, or behavior. The analysis of phenotype plays a key role in clinical …

The Mammalian Phenotype Ontology as a tool for annotating, analyzing and comparing phenotypic information

CL Smith, CAW Goldsmith, JT Eppig - Genome biology, 2005 - Springer
Abstract The Mammalian Phenotype (MP) Ontology enables robust annotation of
mammalian phenotypes in the context of mutations, quantitative trait loci and strains that are …