> For the complete documentation index, see [llms.txt](https://vci-gci-docs.clinicalgenome.org/vci-gci-docs/llms.txt). Markdown versions of documentation pages are available by appending `.md` to page URLs; this page is available as [Markdown](https://vci-gci-docs.clinicalgenome.org/vci-gci-docs/external-tools/hpo-search-help.md).

# HPO Search Help

The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease. <https://hpo.jax.org/app/>&#x20;

![](https://453646021-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FzjRMfxI6chghHwy4VhQv%2Fuploads%2FmUqVGlTYMf4WPf2EtVqo%2Fhpo%20search.png?alt=media\&token=8340966c-a55b-405b-948c-4a3eff80d9e7)

### Using HPO Search

Use the drop-down list to limit search to Term (phenotype), Disease, Gene, or search All.

* Enter a phenotype to find its HPO number
* Enter a disease to find associated gene(s) and phenotypic features&#x20;
* Enter a gene to find associated disease(s) and phenotypic features

The HPO search tool has a type-ahead function. Below is an example of what is found after typing "spre" when searching All:

![](https://453646021-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FzjRMfxI6chghHwy4VhQv%2Fuploads%2F9NxqQOzvgD4G4Zum4774%2FHPO%20searching.png?alt=media\&token=3d02cd53-8d1e-4ef1-bb97-b5720d72dd79)

Up to 10 items of each type will be displayed. If the desired term is shown, click on it to go directly to its entry. If it is not listed, click on the blue "See all results for" button, or hit Enter/Return to be taken to a search results page.

![](https://453646021-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FzjRMfxI6chghHwy4VhQv%2Fuploads%2FT5P7ZHWlJe1bW55Ak2IR%2Fhpo%20search3.png?alt=media\&token=4044ba81-f26d-4e64-936b-bb5203652784) ![](https://453646021-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FzjRMfxI6chghHwy4VhQv%2Fuploads%2FnufUNWIdR4km9xaLHo4T%2Fhpo%20search2.png?alt=media\&token=5b457cd5-634e-41ab-ae7f-f0635fcc362f)

The page for each phenotypic term includes a hierarchy of related terms. From here, you can select a broader and narrower term if appropriate.&#x20;

![](https://453646021-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FzjRMfxI6chghHwy4VhQv%2Fuploads%2FFyVq24zNHn7yBHsQgTLq%2Fhpo%20result.png?alt=media\&token=3d485cb1-fc1f-4c80-87f0-b39fdb5bb8ad)

Once a term has been selected, the HP number can be copied from the title line and then pasted into the curation interface.

#### Return to Curation Help

{% content-ref url="/pages/h5UVN6EA9cYjrpTehK04" %}
[VCI Help](/vci-gci-docs/vci-help/about-variant-curation.md)
{% endcontent-ref %}

{% content-ref url="/pages/WrLsWGa5m179KlQq76Je" %}
[GCI Help](/vci-gci-docs/gci-help/about-gene-disease-clinical-validity-curation.md)
{% endcontent-ref %}


---

# Agent Instructions
This documentation is published with GitBook. GitBook is the documentation platform designed so that both humans and AI agents can read, navigate, and reason over technical content effectively. Learn more at gitbook.com.

## Querying This Documentation
If you need additional information that is not directly available in this page, you can query the documentation dynamically by asking a question.

Perform an HTTP GET request on the current page URL with the `ask` query parameter, and the optional `goal` query parameter:

```
GET https://vci-gci-docs.clinicalgenome.org/vci-gci-docs/external-tools/hpo-search-help.md?ask=<question>&goal=<endgoal>
```

`ask` is the immediate question: it should be specific, self-contained, and written in natural language.
`goal` is optional and describes the broader end goal you are ultimately trying to accomplish on behalf of the user. GitBook uses it to tailor the answer towards what is most useful for that goal.

The response will contain a direct answer to the question and relevant excerpts and sources from the documentation.

Use this mechanism when the answer is not explicitly present in the current page, you need clarification or additional context, or you want to retrieve related documentation sections.