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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

acrocephalosyndactyly

MONDO:0019796Mondo

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Findings

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

Definition

Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations.

Definition from the Mondo Disease Ontology (MONDO:0019796), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: congenital limb malformation
syndromic craniosynostosis
Narrower terms (4): acrocephalopolysyndactyly
Apert syndrome
Jackson-Weiss syndrome
Saethre-Chotzen syndrome

Other names

2 names

Resolves to: acrocephalosyndactyly

Also called: acrocephalosyndactyliaACS