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National Center for Biotechnology Information

Example searches

Nameachondroplasia[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 geneLMNB1[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 featureshort stature[clinical features]If you enter the name of the feature followed by [clinical feature] the diseases with that feature will be retrieved.

Disclaimer

The information on this website is not intended for diagnostic use or medical decision-making without review by a qualified health care professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care provider orgenetics professional. For more information, seeNCBI's disclaimer policy.
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