appears_in:
- chiro
- maxo
- scdo
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'
example_extras: []
homepage: http://www.human-phenotype-ontology.org/
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
license: hpo
logo: https://raw.githubusercontent.com/obophenotype/human-phenotype-ontology/master/logo/HPO-logo-black_small.png
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
mastodon: hpo@masto.ai
name: Human Phenotype Ontology
namespace_in_lui: true
pattern: ^\d{7}$
preferred_prefix: HP
prefix: hp
providers: []
publications:
- doi: 10.1186/s13059-025-03616-4
  pmc: PMC12131445
  pubmed: '40462185'
  title: A resource for whole-body gene expression map of human tissues based on integration
    of single cell and bulk transcriptomics
  year: 2025
- doi: 10.1093/nar/gkad1005
  pubmed: '37953324'
  title: 'The Human Phenotype Ontology in 2024: phenotypes around the world'
  year: 2024
- doi: 10.1093/nar/gkaa1043
  pubmed: '33264411'
- 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
rdf_uri_format: http://purl.obolibrary.org/obo/HP_$1
repository: https://github.com/obophenotype/human-phenotype-ontology
synonyms:
- hpo
uri_format: http://purl.obolibrary.org/obo/HP_$1
version: '2026-06-23'
