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Terminology owner/maintenance organisation

Name, contact details, website
The Jackson Laboratory for Genomic Medicine

Formal name of the code system

The Human Phenotype Ontology

Short name or abbreviation of the code system name

Technical identifier/s of the code system (OIDs, URNs etc)2.16.840.1.113883.6.339

Scope/domain statement for the code system

(Official or from HTA)

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.

Link to information about the code system - including how to obtain the content

Arrangement or agreements with HL7 for use of content

IP Information and Licensing Information

  1. The HPO vocabularies, annotation files, tools and documentation are freely available.
  2. 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.)
  3. We suggest that you follow standard scientific citation practice if you use the HPO in publications.
  4. 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 We request that the HPO logo be included as well.

HL7 users of this information - which HL7 products use this link (if known)


Process to request content change

Other useful Information

Information current as at (date)

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