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A reference for what the literature reports. Not medical advice.

Disease

BBS2-related ciliopathy

MONDO:1040048Mondo

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Findings

No curated finding names BBS2-related ciliopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Any ciliopathy caused by variants in the BBS2 gene.

Definition from the Mondo Disease Ontology (MONDO:1040048), 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.

BBS2HGNC:967
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · PanelApp Australia · Autosomal recessive · 2025

Where it sits

A kind of: ciliopathy
Narrower terms (2): Bardet-Biedl syndrome 2
retinitis pigmentosa 74