> 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/vci-help/starting-an-interpretation/associating-a-variant-with-disease-mode-of-inheritance-and-specification-document/disease-association.md).

# Disease association

SOP Section 6.1

### Interpretation with Disease Association

When you are ready to evaluate disease-specific criteria for your interpretation, click <img src="https://453646021-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FzjRMfxI6chghHwy4VhQv%2Fuploads%2Fy1SQTiFz3M3LU13fDGpK%2Fadd%20disease%20button.png?alt=media&amp;token=140f8f4c-b4a6-460d-9ca3-5dc36bc86dbe" alt="" data-size="line"> or <img src="https://453646021-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FzjRMfxI6chghHwy4VhQv%2Fuploads%2FMFBPm3iOj7lULJCsziwR%2Fadd%20disease%20button2.png?alt=media&amp;token=3c5d5101-db6b-47a6-a0a7-9cb42a341bda" alt="" data-size="line">to open the "Add Disease" selection screen.

![](https://453646021-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FzjRMfxI6chghHwy4VhQv%2Fuploads%2FwGazCpEqmYsTyQjETiBV%2FAdd%20disease%20popup.png?alt=media\&token=c2b31508-f594-4a2c-baeb-75a0aa29d895)

Enter the desired ID and click "Retrieve from OLS". Verify your disease term and click save.&#x20;

{% hint style="info" %}
For assistance using MONDO Search, see [MONDO Search Help](/vci-gci-docs/external-tools/mondo-search-help.md)
{% endhint %}

After saving, you will see the associated disease listed under the variant, as well as under "My Interpretation" and the Disease+ button will be replaced with <img src="https://453646021-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FzjRMfxI6chghHwy4VhQv%2Fuploads%2FpqSzx57MWGT9ASCKln7k%2Fremove%20disease%20button.png?alt=media&amp;token=086b6a24-e63d-47e6-8485-7e2101e937a0" alt="" data-size="line">

#### Free text option for Disease

It's highly recommended to use an ontology term, but if there is no MONDO term, then a free text term may be entered for the disease. If you are unsure about an appropriate disease term, please contact us at <clingen-helpdesk@lists.stanford.edu> and we will be happy to assist.&#x20;

Click on <mark style="color:blue;">**"Add free text term"**</mark> to enter a free text term (up to 100 characters in length). You must also provide a set of [HPO](http://human-phenotype-ontology.github.io/) terms (preferred) and/or a definition for the term you are entering.&#x20;

{% hint style="info" %}
For assistance using HPO Search, see [HPO Search Help](/vci-gci-docs/external-tools/hpo-search-help.md)
{% endhint %}

![](https://453646021-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FzjRMfxI6chghHwy4VhQv%2Fuploads%2FgZtndZaAhuYrocKc7tYq%2Ffree%20text%20disease.png?alt=media\&token=52b0284d-f614-435a-814a-fadff030c466)

{% hint style="warning" %}
NOTE: If another curator enters a different phrase for the same ID, the interface will not be able to determine if they are equivalent, this is why we strongly suggest using the MONDO ontology terms.&#x20;
{% endhint %}


---

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