Frequently Asked Questions

GestaltMatcher Database (GMDB) is a collection of curated medical photography of genetic syndromes as a resource for clinician and computer scientists and a service operated by the Association for Genome Diagnostics (AGD), which is a registered non-for-profit organization in Germany. GMDB aims to improve the openness and accessibility of scientific findings and to enhance collaboration amongst researchers and clinicians. GMDB is a non-profit community resource and is not linked to any one publisher or journal.

GestaltMatcher database is a service operated by the Association for Genome Diagnostics (AGD) , which is a registered non-for-profit organization in Germany. GMDB aims to improve the openness and accessibility of scientific findings and to enhance collaboration amongst researchers and clinicians. GMDB is a non-profit community resource and is not linked to any one publisher or journal.

If you are interested in using GestaltMatcher Database, more information can be found on our Publications page.

For more information about GestaltMatcher Database, please watch the video on the right-hand side.

Talk at the 31st European Dysmorphology and ERN ITHACA Meeting

If you'd like to join us and see the growth of GestaltMatcher Database, please send an email to info@gestaltmatcher.org to sign up. We're working hard to add clinicians and computer scientists to GestaltMatcherDB as fast as possible. Thanks for Understanding.

For more information about GestaltMatcher Database, please watch the video on the right-hand side.

This video describes how to Access the GestaltMatcher database - a large medical image database of rare genetic disorders with facial dysmorphisms.

After successfully signing up and being part of us, you can upload cases you have. You can follow the manual instruction, which can be found on our Downloads page and step by step contribute a case to GestaltMatcher Database. Video instruction can also be found on the right-hand side.

This video describes how you can upload patients to the GestaltMatcher database - a large medical image database of rare genetic disorders with facial dysmorphisms.

GestaltMatcher Database only uses digital consent. We provide consent forms both in English and German, which can be found in our Downloads page. Video instruction can also be found on the right-hand side.

This video describes how you can upload patients to the GestaltMatcher database - a large medical image database of rare genetic disorders with facial dysmorphisms.

In 2020, we first published our study results of "GestaltMatcher facilitates rare disease matching using facial phenotype descriptorson" on medRxiv and the GestaltMatcher Database is part of this work. In 2021 our work GestaltMatcher facilitates rare disease matching using facial phenotype descriptorson was accepted by Journal Nature Genetics and officially published in Feb 2022. After that, more and more clinicians and scientific researchers utilize GestaltMatcher Database to diagnose patients and, based on our work contribute more to academia and society. More information can be found on our Publications page.

GestaltMatcher database is a service operated by the Association for Genome Diagnostics (AGD) , which is a registered non-for-profit organization in Germany. GMDB aims to improve the openness and accessibility of scientific findings and to enhance collaboration amongst researchers and clinicians. GMDB is a non-profit community resource and is not linked to any one publisher or journal.

We politely request that any use of data obtained from the GestaltMatcher Database browser cite the GestaltMatcher flagship paper and any online resources that include the data set provide a link to the browser. There is no need to include us as authors on your manuscript, unless we contributed specific advice or analysis for your work.

If you would like to use our database and cite our work, please cite our paper and GestaltMacher Database:

FAIR GestaltMatcher Database (GMDB) is a collection of curated medical photography of genetic syndromes as a resource for clinician and computer scientists and a service operated by the Association for Genome Diagnostics (AGD), which is a registered non-for-profit organization in Germany. GMDB aims to improve the openness and accessibility of scientific findings and to enhance collaboration amongst researchers and clinicians. GMDB is a non-profit community resource and is not linked to any one publisher or journal.

To protect the privacy of the data of GestaltMatcher Database, the data will be only accessible with permission from the scientific advisory board (SAB) of GMDB. If you'd like to analyze the data by yourself and do research based on FAIR GMDB, requires a 1) GMDB account, 2) a summary of the research you intend to conduct, and 3) an approval by the Scientific Advisory Board of GMDB. Ad 1) Find an existing GMDB user that can vouch for you and sign up a GMDB account. Ad 2) Go to My Data> My Proposals and submit your research summary. Ad 3) See also Ongoing projects page for approved research.

The GMDB can be seen as a new publication organ for case reports that complies with the FAIR principles. Therefore, there is an option to make a patient “FAIR (shared)” in the database. This makes the patient accessible, findable, and reusable for other clinicians and scientists. This means that the case is displayed in the Gallery, that it’s also available to other users for further similarity comparisons, and it can be used for training and testing of the GM AI, but also other AIs. A publication in the GMDB is comparable to a publication in a medical journal. A case can therefore be uploaded "publicly" if the patient has consented to publication.
If there is no consent for publication, the case can still be uploaded to the GMDB. In this case, though, the case must be set to "private" in the image settings. It is thus only visible to the uploading clinician and not to other users of the GMDB. However, it can be analyzed by the uploading clinician with the GM AI and used for training and testing purposes. However, the photos cannot be used for training other AIs than GM.
Since documents such as doctor's letters or laboratory findings usually contain sensitive patient data, these must be uploaded “privately” in any case!

More information on the FAIR principle can be found here : Findable Accessible Interoperable Reusable

When uploading patients, there is a gallery photo function to select which photo will be shown in the Gallery view. The default setting will select the first uploaded photo of the patient. One patient may have a couple of photos, for example, frontal photos taken at different ages, or profiles, hand X-ray images etc. Therefore, this gallery photo function allows users to choose which image will be shown in the Gallery view.

If you'd like to invite only one clinician at a time, you can find the option Invite other clinician in the drop-down menu under your user account. Click the option, and then you can use the send invitation button or the text below with a one-time invitation toke.
If you have couples clinicians to invite, you can use the option Bulk invite in the drop-down menu. Click the option, and then you can type in multiple email addresses separated by comma(,), semicolon(;), or whitespace( ). After clicking the submit button, you can choose to send the invitation individually or at once. Remember to type the name of each colleague.

If your patients are already in GMDB and you'd like to invite them to sign the digital consent within GMDB, please find the patient in My Patients and click the enter button. And then, you can see the buttons above the patient information area. You can use the Invite by mail or Invite by link/QR button to invite the patient to create his/her own account, and then he/she can upload photos on his/her own. You can use the Sign Consent button to invite the patient to sign the digital consent.
If your patients are not yet in GMDB and you have their email, then you can use the option Bulk invite in the drop-down menu under your user account. Click the option, and then you can type in multiple email addresses separated by comma(,), semicolon(;), or whitespace( ) Remember to check the box Invitees are patients and click the submit button. After clicking the submit button, you can choose to send the invitation individually or at once. After sending the emails, their entries will automatically be created and shown in My Patients.