Data element name

Sub data element name

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Code System Owner

NamePeter Robinson or Melissa Haendel
The Monarch Initiative 
Website

http://www.human-phenotype-ontology.org/

http://www.obofoundry.org/ontology/hp.html

Email address
Phone number
Address
Code System Maintainer (Steward)Name
Website
Email address
Phone number
Address
Code System PublisherName
Website
Email address
Phone number
Address
Code System NamesFormal name of the code systemHuman Phenotype Ontology
Short name of the code systemHPO
Code System Technical IdentifiersHTA-endorsed URI

http://human-phenotype-ontology.org

HTA-endorsed OID2.16.840.1.113883.6.339
Other URIshttp://purl.obolibrary.org/obo/hp.owl (non-preferred)
Other OIDs
Code System InformationLinkhttps://hpo.jax.org/app/download/ontology
Notes"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."
Arrangement or agreements with HL7 for use of content
None
Version management

Releases, produced approximately every 2 months, can be found here: https://github.com/obophenotype/human-phenotype-ontology/releases


Code System Copyright, Intellectual Property and LicensingCopyright Statement

The HPO vocabularies, annotation files, tools and documentation are freely available.

Copyright Information
  1. The HPO is copyrighted to protect the integrity of the vocabularies, which means that changes to the HPO vocabularies need to be done by HPO developers. However, anyone can download the HPO and use the ontologies or other HPO files under three conditions:
    • That the Human Phenotype Ontology Consortium is acknowledged and cited properly.
    • That any HPO Consortium file(s) displayed publicly include the date(s) and/or version number(s) of the relevant HPO file(s).
    • That neither the content of the HPO file(s) nor the logical relationships embedded within the HPO file(s) be altered in any way. (Content additions and modifications have to be suggested using our issue tracker.)
  2. Users of the HPO should add the following statement to their online presence. This service/product uses the Human Phenotype Ontology (version information). Find out more at http://www.human-phenotype-ontology.org We request that the HPO logo be included as well.
Intellectual Property Information
Licensing Information
HTA endorsement status (Draft, In review, Endorsed for use, Pending re-endorsement, Retired) ValueEndorsed for Use
Assignment date20220602
HTA review statusLast review date20220804
Next review date20230804
Information current as at (date)
20220804
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2 Comments

  1. Jessica Bota

    The endorsed URI throws an error in the THO build because "Canonical URLs must be absolute URLs if they are not fragment references". It must contain the protocol (i.e., http or https). 

    My suggestion is to use http://human-phenotype-ontology.org or http://www.human-phenotype-ontology.org/, as they both resolve to the same page as the original URI. Https does not seem to work. 

    Caroline Macumber Davera Gabriel 

    1. Caroline Macumber

      Yes, agreed on adding http