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.

Prefix

hp

Preferred Prefix

HP

Alternative Prefixes

hpo

Keywords

biomedical science disease phenotype disorder fair data spaces genetics life sciences, biology medicine obo omics ontology pathology phenomics preclinical studies

Version

2025-11-24

License

hpo

Links

Homepage Repository OBO OWL OBO JSON @hpo@masto.ai

Publications

2025 A resource for whole-body gene expression map of human tissues based on integration of single cell and bulk transcriptomics

2024 The Human Phenotype Ontology in 2024: phenotypes around the world

2019 Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

2016 The Human Phenotype Ontology in 2017

2015 The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

2013 The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

2010 The human phenotype ontology

2008 The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

Pattern for Local Unique Identifiers

Local identifiers in Human Phenotype Ontology should match this regular expression:
^\d{7}$

Example Local Unique Identifier

0011140   Resolve

Pattern for CURIES

Compact URIs (CURIEs) constructed from Human Phenotype Ontology should match this regular expression:
^HP:\d{7}$

Example CURIE

HP:0011140

Pattern for RDF URIs

http://purl.obolibrary.org/obo/HP_$1

Example RDF URI

http://purl.obolibrary.org/obo/HP_0011140

MIRIAM Namespace Embedded in LUI

The legacy MIRIAM standard for generating CURIEs with this resource annotates the namespaceEmbeddedInLUI as true. This means that you may see local unique identifiers that include a redundant prefix and delimiter (also known as a banana) and therefore look like a CURIE. For , the banana looks like HP:. Therefore, you may see local unique identifiers for this resource that look like HP:0011140 (instead of the canonical form 0011140) and CURIEs for this resource that look like HP:HP:0011140 (instead of the canonical form HP:0011140). The Bioregistry will automatically strip off the banana when standardizing local unique identifiers and CURIEs.

Contact

Sebastian Koehler   0000-0002-5316-1399   drseb

A summary of the relations in the Bioregistry schema can be found here.

Appears In (3) (bioregistry.schema:0000018 )

CHIRO MAXO SCDO

In Collection

ASKEM Epidemiology Prefixes

The metaregistry provides mappings between the Bioregistry and other registries. There are 15 mappings to external registries for this resource with 8 unique external prefixes.

A provider turns a local unique identifiers from a resource into a URI. Many providers are also resolvable as URLs (i.e., they can be used in a web browser).

The local unique identifier 0011140 is used to demonstrate the providers available for Human Phenotype Ontology. Some providers may use a different example, which is displayed in the table below. A guide for curating additional providers can be found here.