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Reference

Evidence

Compounds
Outcomes
Proteins
Interactions
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Articles

Chemistry

Reactions
Reach

Reference layer

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

EIF2B1-related permanent neonatal diabetes with transient liver dysfunction

MONDO:1060246Mondo

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Findings

No curated finding names EIF2B1-related permanent neonatal diabetes with transient liver dysfunction yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Any permanent neonatal diabetes mellitus in which the cause of the disease is a mutation in the EIF2B1 gene, often accompanied by transient liver dysfunction.

Definition from the Mondo Disease Ontology (MONDO:1060246), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: permanent neonatal diabetes mellitus