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CompoundsSubstances with curated findings
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ProteinsTransporters and enzymes
InteractionsPairs that share biology
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ReactionsRhea and Human-GEM, by subsystem
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PathwaysReactions grouped under one name
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AnatomyTissues, by what is expressed there
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OrganismsSpecies a compound is prepared from
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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

CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder

MONDO:1060212Mondo

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Findings

No curated finding names CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

A syndromic disease caused by a variation in the CRYAB gene, and characterized by a spectrum of phenotypes including cardiomyopathy, cataract, and/or myopathy.

Definition from the Mondo Disease Ontology (MONDO:1060212), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: hereditary disease
syndromic disease
Narrower terms (3): cataract 16 multiple types
dilated cardiomyopathy 1II
myofibrillar myopathy 2