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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

Atlas Graph Twin Access

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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

ACTC1-related distal arthrogryposis with congenital heart disease

MONDO:0700352Mondo

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Findings

No curated finding names ACTC1-related distal arthrogryposis with congenital heart disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

A distal arthrogryposis caused by variation in the ACTC1 gene. This disease is characterised by multiple congenital contractures, neck pterygia, scoliosis, congenital heart defects, and/or cardiomyopathy.

Definition from the Mondo Disease Ontology (MONDO:0700352), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: cardiogenetic disease
congenital heart disease
distal arthrogryposis