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Reference

Evidence

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Proteins
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Reactions
Reach

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Pathways
Processes
Anatomy
Cell types
Organisms
Materials
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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

congenital myasthenic syndrome 4

MONDO:1040021Mondo

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Findings

No curated finding names congenital myasthenic syndrome 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Any postsynaptic congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNE gene.

Definition from the Mondo Disease Ontology (MONDO:1040021), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: postsynaptic congenital myasthenic syndrome
Narrower terms (3): congenital myasthenic syndrome 4A
congenital myasthenic syndrome 4B
congenital myasthenic syndrome 4C