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Disease association

SOP Section 6.1

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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.

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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

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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 [email protected]envelope 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 HPOarrow-up-right terms (preferred) and/or a definition for the term you are entering.

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For assistance using HPO Search, see HPO Search Help

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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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