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Reference

Evidence

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Outcomes
Proteins
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Articles

Chemistry

Reactions
Reach

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Pathways
Processes
Anatomy
Cell types
Organisms
Materials
Assessments
Diseases

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

Disease

HGSNAT-related retinopathy

MONDO:1040040Mondo

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Findings

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

Definition

Any isolated retinopathy caused by variants in the HGSNAT gene.

Definition from the Mondo Disease Ontology (MONDO:1040040), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: inherited retinal dystrophy
Narrower terms (1): retinitis pigmentosa 73