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CompoundsSubstances with curated findings
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ProteinsTransporters and enzymes
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AnatomyTissues, by what is expressed there
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Reference

Evidence

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Outcomes
Proteins
Interactions
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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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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

CFAP418-related ciliopathy

MONDO:0700374Mondo

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Findings

No curated finding names CFAP418-related ciliopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Any ciliopathy caused by variants in the CFAP418 gene, including cases diagnosed as Bardet-Biedl syndrome 21, cone-rod dystrophy 16, or retinitis pigmentosa 64.

Definition from the Mondo Disease Ontology (MONDO:0700374), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: ciliopathy
Narrower terms (3): bardet-biedl syndrome 21
cone-rod dystrophy 16
retinitis pigmentosa 64