Children’s Hospital of Philadelphia: CHOP Researchers Create Search Engine Linking Diseases and Observable Traits

Children’s Hospital of Philadelphia: CHOP Researchers Create Search Engine Linking Diseases and Observable Traits . “A patient comes to a doctor with a constellation of symptoms and physical traits that, at a first glance, do not lead to an obvious diagnosis. Perhaps the patient has facial abnormalities and cardiac symptoms, as well as other issues with the skeleton and joints. The provider suspects these symptoms relate to a disease that is due to an underlying genetic mutation but is unsure where to look. Enter PhenCards, a new data resource and search engine created by researchers at Children’s Hospital of Philadelphia (CHOP) that links existing biomedical knowledge with observable human traits, also known as phenotypes.”

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