Genetic Condition Names
The preferred name of each condition on Genetics Home Reference reflects terminology used by researchers, clinicians, and patients. We use the following guidelines to select a preferred name:
If there is no agreement among those resources, we look to the following sources for additional guidance:
Genetics Home Reference's expert reviewers
Support and advocacy groups
If there is no clear majority after a thorough review of the findings from items 1 and 2, we use our professional judgment to make a final decision.
Genetics Home Reference lists many topics under more than one name, especially when the same condition is known by different scientific, informal, and historical names. Each condition summary includes a list of additional names that people may use to refer to the condition.
For more general information about how gene names and symbols are assigned, see How are genetic conditions and genes named?