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

Disease

MERTK-related retinopathy

MONDO:0800394Mondo

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Findings

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

Definition

An inherited retinopathy caused by bi-allelic variants in the MERTK gene.

Definition from the Mondo Disease Ontology (MONDO:0800394), 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.

MERTKHGNC:7027
- Definitive · ClinGen · Autosomal recessive · 2022

Where it sits

A kind of: inherited retinal dystrophy
Narrower terms (1): retinitis pigmentosa 38