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

Evidence

Compounds
Outcomes
Proteins
Interactions
Papers
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

BMPR1A-related juvenile polyposis syndrome

MONDO:0700348Mondo

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Findings

No curated finding names BMPR1A-related juvenile polyposis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

An autosomal dominant disorder caused by pathogenic variants in the BMPR1A gene characterized by gastrointestinal juvenile polyps and a predisposition to gastrointestinal cancer.

Definition from the Mondo Disease Ontology (MONDO:0700348), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: autosomal dominant disease
juvenile polyposis syndrome