What is GestaltMatcher Database (GMDB)?

GestaltMatcher Database (GMDB) is a curated collection of medical images and clinical information from individuals with rare genetic conditions. It serves as a reference dataset to support diagnosis, research, and the development of new tools for phenotype-driven gene discovery.

GMDB is operated by the Association for Genome Diagnostics (AGD e.V.), a non-profit organization based in Germany. It is designed to follow FAIR principles and prioritizes diversity, clinical accuracy, and patient consent.

Clinicians and researchers can use GMDB to compare phenotypes, explore similar cases, and contribute to an expanding resource that supports both academic and translational applications in rare disease genomics.

FAIR principles:
- Findable
- Accessible
- Interoperable
- Reusable

Watch: GMDB overview

If the video doesn’t load, watch on YouTube: https://www.youtube.com/watch?v=lEF7pmVOs9c

Conference presentation

We also presented GMDB at the 31st European Dysmorphology and ERN-ITHACA Meeting. You can re-watch it here:

If the video doesn’t load, watch on YouTube: https://www.youtube.com/watch?v=pEIOaL123tY