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MedGen

Organizes information related to human medical genetics, such as attributes of conditions with a genetic contribution.

Example searches

Name achondroplasia[title] As you type your query, names of genetic disorders used in the NIH Genetic Testing Registry (GTR) will be provided. If you do not make a selection from the menu that appears under the search box as you type, your query is processed by looking for a match on a word or phrase. * is used as the wild card, and that wild card can be used only at the end of a word.
Related gene LMNB1[gene] If you enter a gene symbol followed by [gene], the diseases caused by or with some association to that gene will be retrieved.
Clinical feature short stature[clinical features] If you enter the name of the feature followed by [clinical feature] the diseases with that feature will be retrieved.