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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
2013
Nucleic Acids Research
The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org, provides a structured, comprehensive and welldefined set of 10,088 classes (terms) describing human phenotypic abnormalities and 13,326 subclass relations between the HPO classes. In addition we have developed logical definitions for 46% of all HPO classes using terms from ontologies for anatomy, cell types, function, embryology, pathology and other domains. This allows interoperability with
doi:10.1093/nar/gkt1026
pmid:24217912
pmcid:PMC3965098
fatcat:p2ubynvoprbopaeyoboloexzcq