Symptoms

Browse symptoms by organ

Pick a clinical concept from the sidebar to see its definition and the ciliopathies that exhibit it.

Each concept is mapped to an HPO identifier and cross-referenced against the curated-concept catalogue. The detail view shows the HPO definition, ciliopathy class breakdown, and the diseases that report it, with evidence counts and OMIM provenance.

Try a well-known concept

• Molar tooth sign
  CNS · Joubert Syndrome hallmark
• Polydactyly
  Skeletal · classic ciliopathy sign
• Renal cysts / cystic kidney
  Renal · PKD, NPH, BBS, MKS
• Retinal dystrophy (other / unspecified)
  Eye · most multisystem ciliopathies
• Situs inversus / heterotaxy (organ-level)
  Cardiac · primary ciliary dyskinesia
• Encephalocele
  CNS · Meckel-Gruber hallmark

Or use the sidebar search to find a concept by name or free-text phrase (e.g. “extra fingers” → Polydactyly, “brain MRI molar tooth” → Molar tooth sign).