OFD1-related ciliopathy

MONDO:1040039

Any ciliopathy caused by monoallelic, biallelic, or hemizygous variants in the OFD1 gene. This disease is characterized by a broad range of phenotypes including Joubert syndrome, orofaciodigital syndrome, retinitis pigmentosa, and primary ciliary dyskinesia.

Also known as: OFD1-related ciliopathy

1 clinical trial for this condition and its sub-types, 0 tagged with OFD1-related ciliopathy itself.

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Where it sits in the disease tree

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Sub-types of OFD1-related ciliopathy

Including sub-types (1) Tagged with OFD1-related ciliopathy (0)

Trials to join now! 1

New registry aims to unlock secrets of rare Kidney-Liver diseases

Knowledge-focused Recruiting now

This study is creating a central database and tissue bank for rare diseases affecting the kidneys and liver, such as ARPKD and Joubert syndrome. Researchers will collect medical information, genetic samples, and tissues from 200 participants to help doctors and scientists better …

Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused

Last updated Jun 27, 2026 14:00 UTC

OFD1-related ciliopathy

Where it sits in the disease tree

New registry aims to unlock secrets of rare Kidney-Liver diseases