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Reference

Evidence

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Outcomes
Proteins
Interactions
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Chemistry

Reactions
Reach

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Pathways
Processes
Anatomy
Cell types
Organisms
Materials
Assessments
Diseases

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Computational infrastructure for human biology, built on a provenance-aware knowledge graph. Findings retain their sources; research and simulation are the next layers.

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

Disease

GUCA1A-related retinopathy

MONDO:0700376Mondo

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Findings

No curated finding names GUCA1A-related retinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Any retinopathy caused by a variant in the GUCA1A gene, including cases diagnosed as cone dystrophy 3 or cone-rod dystrophy 14.

Definition from the Mondo Disease Ontology (MONDO:0700376), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: inherited retinal dystrophy
Narrower terms (2): cone dystrophy 3
cone-rod dystrophy 14