Disease association

SOP Section 6.1

Interpretation with Disease Association

When you are ready to evaluate disease-specific criteria for your interpretation, click or to open the "Add Disease" selection screen.

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

For assistance using MONDO Search, see MONDO Search Help

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

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.

Click on "Add free text term" to enter a free text term (up to 100 characters in length). You must also provide a set of HPO terms (preferred) and/or a definition for the term you are entering.

For assistance using HPO Search, see HPO Search Help

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.

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Last updated 1 year ago