About the dataBBaSe

dataBBaSe is an open database of genotype and phenotype data of patients with Bardet-Biedl syndrome.

Bardet-Biedl syndrome (BBS) is a rare genetic disease affecting about 1:150 000 people in the Europe. It is caused by mutation in one of the 22 BBS genes, which lead to development of a multi-systemic disease characterized by presence of retinal dystrophy, polydactyly, obesity, cognitive impairment, reproductive system anomalies and renal anomalies in the same affected individual. The dataBBaSe collects information about the genotype and phenotype of patients with Bardet-Biedl syndrome to provide publicly available data, which could facilitate the research of this rare heterogeneous disease.

You can use this page to:

  • Search the dataBBaSe immediately.
  • Export csv file with data from the whole dataset or from your filtered selection.
  • Read through the dataBBaSe Documentation and FAQ.
  • Check out the list of References.
  • Contact us if you wish to contribute by adding your own data.

The dataBBaSe was created and is maintained by a team around Dr. Ondrej Stepanek from the Laboratory of Adaptive Immunity, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic.