HL7 Terminology (THO)
5.0.0 - Publication World

This page is part of the HL7 Terminology (v5.0.0: Release) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions

NamingSystem: Human Phenotype Ontology

Official URL: http://terminology.hl7.org/NamingSystem/HPO Version:
Active as of 2022-06-02 Computable Name: HPO

“The Human Phenotype Ontology (HPO) provides 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. HPO currently contains over 13,000 terms and over 156,000 annotations to hereditary diseases. The HPO project and others have developed software for phenotype-driven differential diagnostics, genomic diagnostics, and translational research. The HPO is a flagship product of the Monarch Initiative, an NIH-supported international consortium dedicated to semantic integration of biomedical and model organism data with the ultimate goal of improving biomedical research. The HPO, as a part of the Monarch Initiative, is a central component of one of the 13 driver projects in the Global Alliance for Genomics and Health (GA4GH) strategic roadmap.”

Please see https://hpo.jax.org/app/download/ontology.

Releases, produced approximately every 2 months, can be found here.

Summary

Defining URLhttp://terminology.hl7.org/NamingSystem/HPO
NameHPO
Statusactive
Definition

"The Human Phenotype Ontology (HPO) provides 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. HPO currently contains over 13,000 terms and over 156,000 annotations to hereditary diseases. The HPO project and others have developed software for phenotype-driven differential diagnostics, genomic diagnostics, and translational research. The HPO is a flagship product of the Monarch Initiative, an NIH-supported international consortium dedicated to semantic integration of biomedical and model organism data with the ultimate goal of improving biomedical research. The HPO, as a part of the Monarch Initiative, is a central component of one of the 13 driver projects in the Global Alliance for Genomics and Health (GA4GH) strategic roadmap."

Please see https://hpo.jax.org/app/download/ontology.

Releases, produced approximately every 2 months, can be found here.

Identifiers

TypeValuePreferredPeriodComment
URIhttp://human-phenotype-ontology.orgtrue2022-06-02 --> (ongoing)This is the URL as specified by the terminology owner, and is considered authoritative.
OID2.16.840.1.113883.6.339true
URIhttp://purl.obolibrary.org/obo/hp.owlfalse2022-06-02 --> (ongoing)

History

DateActionCustodianAuthorComment
2022-09-02createHTAJessica BotaAdd Human Phenotype Ontology per HTA; up-338