The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Abstract
The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org, provides a structured, comprehensive and well-defined 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...
Paper Details
Title
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Published Date
Nov 11, 2013
Journal
Volume
42
Issue
D1
Pages
D966 - D974
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