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Proteins
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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

PIK3R2-related overgrowth spectrum

MONDO:1040004Mondo

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Findings

No curated finding names PIK3R2-related overgrowth spectrum yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Any overgrowth syndrome resulting from pathogenic gain-of-function variants in the PIK3R2 gene. The variants can be germline or somatic

Definition from the Mondo Disease Ontology (MONDO:1040004), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: overgrowth syndrome
Narrower terms (1): megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1