appears_in: [] banana: HP contact: email: dr.sebastian.koehler@gmail.com github: drseb name: Sebastian Koehler orcid: 0000-0002-5316-1399 depends_on: [] deprecated: false description: The Human Phenotype Ontology (HPO) aims to provide a standardized vocabulary of phenotypic abnormalities encountered in human disease. Each term in the HPO describes a phenotypic abnormality, such as atrial septal defect. The HPO is currently being developed using the medical literature, Orphanet, DECIPHER, and OMIM. download_json: http://purl.obolibrary.org/obo/hp.json download_obo: http://purl.obolibrary.org/obo/hp.obo download_owl: http://purl.obolibrary.org/obo/hp.owl example: '0011140' homepage: http://www.human-phenotype-ontology.org/ license: hpo mappings: aberowl: HP_O bartoc: '1937' biocontext: HPO bioportal: HP_O fairsharing: FAIRsharing.kbtt7f hl7: 2.16.840.1.113883.6.339 miriam: hp n2t: hp obofoundry: hp ols: hp ontobee: HP wikidata: P3841 name: Human Phenotype Ontology namespace_in_lui: true pattern: ^\d{7}$ preferred_prefix: HP prefix: hp providers: [] publications: - doi: 10.1093/nar/gky1105 pmc: PMC6324074 pubmed: '30476213' title: Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. year: 2019 - doi: 10.1093/nar/gkw1039 pmc: PMC5210535 pubmed: '27899602' title: The Human Phenotype Ontology in 2017. year: 2016 - doi: 10.1016/j.ajhg.2015.05.020 pmc: PMC4572507 pubmed: '26119816' title: 'The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.' year: 2015 - doi: 10.1093/nar/gkt1026 pmc: PMC3965098 pubmed: '24217912' title: 'The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.' year: 2013 - doi: 10.1111/j.1399-0004.2010.01436.x pubmed: '20412080' title: The human phenotype ontology. year: 2010 - doi: 10.1016/j.ajhg.2008.09.017 pmc: PMC2668030 pubmed: '18950739' title: 'The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.' year: 2008 repository: https://github.com/obophenotype/human-phenotype-ontology synonyms: - hpo twitter: hp_ontology uri_format: https://hpo.jax.org/app/browse/term/HP:$1 version: '2022-06-11'