Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.
All Diseases > Turner syndrome
Turner syndrome
Alternative Names: 45,X; Monosomy X; Mosaic Turner Syndrome
Disease Category: Sex Chromosome Aneuploidy
Turner syndrome, also known as 45,X or Monosomy X, is a sex chromosome aneuploidy caused by the complete or partial absence of a second sex chromosome in females. Turner syndrome affects approximately 1 in 2,000-2,500 live born girls.
Research groups studying this disease
Sex Chromosome Aneuploidy
Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR)
Turner Syndrome Foundation
The mission of the Turner Syndrome Foundation (TSF) is to support research initiatives and facilitate education programs that increase professional awareness and enhance medical care of those affected by Turner syndrome.
Turner Syndrome Global Alliance
Turner Syndrome Global Alliance (TSGA) aims to have a direct impact on the lives of girls, women, and families living with TS by working to include TS in the national conversation on genetic research. TSGA aims to be a voice for a patient and parent perspective and supportrs collaboration with scientists, researchers, and doctors to ensure that TS research and resources have meaningful outcomes.
Turner Syndrome Society of the US
The Turner Syndrome Society's mission is to advance knowledge, facilitate research, and support all those touched by Turner syndrome.
Chromodiversity Foundation
The Chromodiversity Foundation aims change how the world perceives and supports genetic differences and to help kids and families navigate their unique journeys with confidence and understanding.
Turner Syndrome Carolinas
The purpose of Turner Syndrome of the Carolinas is to create awareness and knowledge, promote research, and provide support for all those touched by Turner syndrome in the Carolinas and beyond.
Turner Syndrome Colorado
Turner Syndrome Colorado's mission is to connect individuals and families in the Turner syndrome community and create and support local resources, including a Turner syndrome clinic program.