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Bardet-Biedl syndrome 12

MONDO:0014440

Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene.

Also known as: BBS12, BBS12 Bardet-Biedl syndrome, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome caused by mutation in BBS12, Bardet-Biedl syndrome type 12

2 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Syndromic disease (24) Human disease (14) Bardet-Biedl syndrome (6) Autosomal recessive disease (4) Ciliopathy (2) Disease by molecular mechanism (2) Disease of genetic or genomic mechanism (2) Autosomal genetic disease (0)

Trials to join now! 1 Completed 1

Scientists hunt for drug targets in rare kidney disorder

Knowledge-focused Recruiting now

This study looks at the genetic causes of nephronophthisis, a rare kidney disease that leads to kidney failure before age 20. Researchers will collect urine and blood samples from 310 patients and healthy relatives to study cells and identify potential drug targets. The goal is t…

Phase: NA • Sponsor: Imagine Institute • Aim: Knowledge-focused

Last updated Jun 26, 2026 14:13 UTC

Bardet-Biedl syndrome 12

Broader categories

Scientists hunt for drug targets in rare kidney disorder