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.
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 or
genetics professional. For more information, see
NCBI's disclaimer policy.