GestaltMatcher Database (DB) is a resource that enables clinicians as well as computer scientists to learn phenotypes of genetic disorders. Users can query the gallery by genes and diseases to find typical portraits, x-rays, and more.
Currently, users of GestaltMatcher DB curated
4403 cases from
1089 publications, covering
399 disorders and
381 genes. If you cannot find a phenotype, but you know about a suitable paper, we would be happy if you could make a contribution. The following manual describes how to do so.
If you are interested in using the data for deep learning, please contact us.