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

Version

2022-06-11

License

hpo

Links

Homepage Repository OBO OWL OBO JSON @hp_ontology

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 includes the namespaceEmbeddedInLUI as true. The actual part that gets prefixed before the local unique identifier regex, otherwise known as the banana, is HP:. Therefore, you might see local unique identifiers written out as 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.

The metaregistry provides mappings between the Bioregistry and other registries. There are 12 mappings to external registries for hp with 7 unique external prefixes.

Providers are various services that resolve CURIEs to URLs. The example CURIE hp:0011140 is used to demonstrate the provides available for hp. Generation of OLS and BioPortal URLs requires additional programmatic logic beyond string formatting.