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

Disease

RP2-related retinopathy

MONDO:0100442Mondo

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Findings

No curated finding names RP2-related retinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

A retinopathy caused by variants in the X-linked gene, RP2.

Definition from the Mondo Disease Ontology (MONDO:0100442), 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.

RP2HGNC:10274
- Definitive · ClinGen · X-linked · 2022

Where it sits

A kind of: inherited retinal dystrophy
Narrower terms (1): retinitis pigmentosa 2

Other names

1 name

Resolves to: RP2-related retinopathy

Also called: RP2 retinopathy