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

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 other domains. This allows interoperability with several resources, especially those containing phenotype information on model organisms such as mouse and zebrafish. Here we describe the updated HPO database, which provides annotations of 7,278 human hereditary syndromes…

• UD
  U.S. Department of Energy

  Awards: -AC02-05CH11231, Contract No. DE-AC02-05CH11231, 05CH11231, R24-OD011883, No. DE-AC02-05CH11231, AC02-05CH11231, DE-AC02, DE-AC02-05CH11231, DE-AC02-
• NI
  National Institute for Health and Care Research
• UC
  University College London
• DF
  Deutsche Forschungsgemeinschaft

  Awards: DE-AC02-05CH11231, 602300
• BF
  Bundesministerium für Bildung und Forschung

  Award: 0313911
• NI
  National Institutes of Health

  Awards: HG000330, HG002659, DE-AC02-05CH11231
• OO
  Office of Science

  Awards: AC02-05CH11231, -AC02-05CH11231, DE-AC02, No. DE-AC02-05CH11231, Contract No. DE-AC02-05CH11231
• BE
  Basic Energy Sciences

  Awards: DE-AC02, AC02-05CH11231, Contract No. DE-AC02-05CH11231, DE-AC02-05CH11231, No. DE-AC02-05CH11231, -AC02-05CH11231