Identify conditions in ClinVar and Genetic Testing Registry with MONDO IDs

In support of data sharing efforts, NCBI’s ClinVar and Genetic Testing Registry (GTR) now accept submissions that use MONDO IDs to identify conditions.

To submit to ClinVar, download our updated spreadsheet templates and enter MONDO as the Condition ID type. Note: The updated template is necessary only if you identify the condition by MONDO ID, not by name.

GTR submitters can use MONDO IDs to identify phenotypes in the clinical tests submitted via spreadsheet, and Mondo phenotype names in both clinical and research test submissions.

NCBI continues to integrate data from Mondo. If you encounter a MONDO ID that is not included yet, please use MedGen to find the condition name or another identifier (for example, HPO, OMIM, Orphanet, or UMLS).

Mondo is a semi-automatically constructed disease ontology from the Monarch Initiative with review from multiple disease-specific resources. ClinVar and GTR are active participants in the review process. We continue to add MONDO IDs and terms to our databases as concepts are clarified.

Read more about Mondo in documentation for ClinVar and GTR. For questions about ClinVar submissions, please email us at clinvar@ncbi.nlm.nih.gov. For questions about GTR submissions, please email us at gtr@ncbi.nlm.nih.gov.

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