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Reference

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Diseases

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

Disease

PDE6A-related retinopathy

MONDO:0700224Mondo

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Findings

No curated finding names PDE6A-related retinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Any retinopathy caused by variants in the PDE6A gene.

Definition from the Mondo Disease Ontology (MONDO:0700224), 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.

PDE6AHGNC:8785
- Definitive · ClinGen · Autosomal recessive · 2022

Where it sits

A kind of: inherited retinal dystrophy
Narrower terms (1): retinitis pigmentosa 43