This software compares a patient’s findings to the findings in 8,552 diseases. It suggests a “differential diagnosis” and identifies other findings and lab tests that may be useful in reaching a diagnosis. It uses detailed information about the patient to assist with diagnosis, so it is best to watch one of the demo videos before using it.

The tool includes the 4,654 genes with convincing germline human disease phenotypes. It also includes many nongenetic diseases, with particular strength in neurology and rheumatology.

The software may be used only by medical professionals (doctors, nurse practitioners, genetic counselors, bioinformaticists, medical librarians, laboratory technician, or research and development scientists developing clinical laboratory processes and supervised trainees in these professions). When the software has loaded in the box below, you will be able log-in, or enter using institutional access. By entering the software you signify that you are a medical professional and that you accept the Limitations and Terms of Use agreement for use of the program and database.