The Human Phenotype Ontology
Year: 2010
Type: review
Abstract: A standardized, controlled vocabulary allows phenotypic information to be described in an unambiguous fashion in medical publications and databases. The Human Phenotype Ontology (HPO) is being developed in an effort to provide such a vocabulary. The use of an ontology to capture phenotypic information allows the use of computational algorithms that exploit semantic similarity between related phenotypic abnormalities to define phenotypic similarity metrics, which can be used to perform database searches for clinical diagnostics or as a basis for incorporating the human phenome into large-scale computational analysis of gene expression patterns and other cellular phenomena associated with human disease. The HPO is freely available at http://www.human-phenotype-ontology.org.
Source: Clinical Genetics
Authors: PN Robinson, S Mundlos
Language: English
Subfield: Health Informatics
Field: Medicine
Domain: Health Sciences
Open Access status: green
Funders: U.S. Department of Energy, Cold Spring Harbor Laboratory, NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research, E-Rare, National Institute for Health and Care Research, British Heart Foundation, European Commission, European Science Foundation, Deutsche Forschungsgemeinschaft, Bundesministerium für Bildung und Forschung, Moorfields Eye Hospital NHS Foundation Trust, National Institutes of Health, Office of Science, U.S. National Library of Medicine, Basic Energy Sciences
Awards: G1286236842, G1286251239, European Consortium for High-Throughput Research in Rare Kidney Diseases, G2495173109, G2641043676, RD-CONNECT: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research, G30714459, G3083819904, G3207356259, G3373106287, The Monarch Initiative: Linking Diseases to Model Organism Resources, G393177772, G419881185, G42916606, G4501827968, G4980587219, G498139845, G5702163051, G650090426, G8320450649, Integrated European –omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases, Identifikation neuer Behandlungsansätze für Epilepsien durch genetische Studien in der marokkanischen Bevölkerung: ein Pilotprojekt, G969889393
OpenAlex ID: W2048495389