OFD1-related ciliopathy
MONDO:1040039Mondo
Findings
No curated finding names OFD1-related ciliopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:1040039), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- OFD1HGNC:2567
- Definitive · ClinGen · X-linked · 2025
Where it sits
- A kind of
- Narrower terms (3)