Creating a Free-Text Disease Identifier
It is strongly recommended that you select a MONDO ontology term for your disease. Gene-disease records with free-text disease identifiers can not be published to the ClinGen website. MONDO disease identifiers are very important for linking and transferring information on the database end. If you cannot find an appropriate MONDO term, please feel free to contact us at clingen-helpdesk@lists.stanford.edu and we will be happy to assist. However, as a last resort, if you cannot find an appropriate term, you may create a disease term using free text.
To enter a free text term, click on the "Add free text term" link in the "Select Disease" selection screen.
In the new selection screen, you can enter a disease name in free text (up to 100 characters in length). Please remember that if someone else enters a different name for the same disease, the interface will not be able to determine that they are equivalent. You must also provide either a set of Human Phenotype Ontology (HPO) terms (preferred -- a link to the HPO Browser is provided; see also HPO Search Help) or a free-text definition for the term you are entering. You may also provide both. Click "Save" to save the new disease record.
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