{"prefix":"hp","name":"Human Phenotype Ontology","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.","pattern":"^\\d{7}$","uri_format":"http://purl.obolibrary.org/obo/HP_$1","rdf_uri_format":"http://purl.obolibrary.org/obo/HP_$1","providers":[],"homepage":"http://www.human-phenotype-ontology.org/","repository":"https://github.com/obophenotype/human-phenotype-ontology","contact":{"name":"Sebastian Koehler","orcid":"0000-0002-5316-1399","email":"dr.sebastian.koehler@gmail.com","github":"drseb"},"example":"0011140","example_extras":[],"license":"hpo","version":"2026-02-16","download_owl":"http://purl.obolibrary.org/obo/hp.owl","download_obo":"http://purl.obolibrary.org/obo/hp.obo","download_json":"http://purl.obolibrary.org/obo/hp.json","banana":"HP","deprecated":false,"mappings":{"aberowl":"HPO","bartoc":"1937","biocontext":"HPO","bioportal":"HPO","fairsharing":"FAIRsharing.kbtt7f","hl7":"2.16.840.1.113883.6.339","integbio":"nbdc02559","miriam":"hp","n2t":"hp","obofoundry":"hp","ols":"hp","ontobee":"HP","tib":"hp","wikidata":"P3841","wikidata.entity":"Q17027854"},"synonyms":["hpo"],"keywords":["biomedical science","disease phenotype","disorder","fair data spaces","genetics","genome/gene","health/disease","life sciences, biology","medicine","obo","omics","ontology","ontology/terminology/nomenclature","pathology","phenomics","phenotype","preclinical studies"],"publications":[{"pubmed":"40462185","doi":"10.1186/s13059-025-03616-4","pmc":"PMC12131445","title":"A resource for whole-body gene expression map of human tissues based on integration of single cell and bulk transcriptomics","year":2025},{"pubmed":"37953324","doi":"10.1093/nar/gkad1005","title":"The Human Phenotype Ontology in 2024: phenotypes around the world","year":2024},{"pubmed":"33264411","doi":"10.1093/nar/gkaa1043"},{"pubmed":"30476213","doi":"10.1093/nar/gky1105","pmc":"PMC6324074","title":"Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources","year":2019},{"pubmed":"27899602","doi":"10.1093/nar/gkw1039","pmc":"PMC5210535","title":"The Human Phenotype Ontology in 2017","year":2016},{"pubmed":"26119816","doi":"10.1016/j.ajhg.2015.05.020","pmc":"PMC4572507","title":"The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease","year":2015},{"pubmed":"24217912","doi":"10.1093/nar/gkt1026","pmc":"PMC3965098","title":"The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data","year":2013},{"pubmed":"20412080","doi":"10.1111/j.1399-0004.2010.01436.x","title":"The human phenotype ontology","year":2010},{"pubmed":"18950739","doi":"10.1016/j.ajhg.2008.09.017","pmc":"PMC2668030","title":"The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease","year":2008}],"appears_in":["chiro","maxo","scdo"],"depends_on":[],"namespace_in_lui":true,"preferred_prefix":"HP","mastodon":"hpo@masto.ai","logo":"https://raw.githubusercontent.com/obophenotype/human-phenotype-ontology/master/logo/HPO-logo-black_small.png"}