Bidirectional disease–gene–symptom search across primary multisystem ciliopathies, primary tissue-specific ciliopathies, and motile ciliopathies (PCD-related). Secondary / non-ciliary disorders are excluded.
Enter one or more gene symbols (separated by commas, semicolons, spaces, or newlines). Returns every curated ciliopathy disease associated with the gene(s).
Enter one or more disease names (or acronyms like BBS, NEDMABA, JBTS). Returns associated genes and the disease's symptom profile.
Enter one or more symptoms (HPO IDs, canonical symptom names, or natural-language phrases like "extra fingers" or "small head").
Filter by class. Click any disease to open its detail page.
Rank candidate genes by phenotypic overlap, starting from a symptom combination, a gene (other genes resembling its curated disease profile), or a disease (genes outside its curated set, flagged as novel candidates).