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AnatomyTissues, by what is expressed there
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DiseasesFeatures, genes, and where each sits

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Reference

Evidence

Compounds
Outcomes
Proteins
Interactions
Papers
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

MTOR-related overgrowth spectrum

MONDO:0100572Mondo

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Findings

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

Definition

Any overgrowth syndrome in which the cause of the disease is a pathogenic gain-of-function variants in the MTOR gene. The variants can be germline or somatic.

Definition from the Mondo Disease Ontology (MONDO:0100572), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: hereditary disease
overgrowth syndrome