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 genetics obo ontology phenomics phenotype preclinical studies

Version

2024-04-04

License

hpo

Links

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

Contact

Sebastian Koehler   0000-0002-5316-1399   drseb

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

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 Human Phenotype Ontology, 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.

Publications

• 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

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 13 mappings to external registries for this resource with 8 unique external prefixes.

When using this resource in RDF, the following URI format should be used:

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

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. A guide for curating additional providers can be found here.