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CompoundsSubstances with curated findings
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ProteinsTransporters and enzymes
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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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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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Catalyst

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

dyssegmental dysplasia-glaucoma syndrome

MONDO:0011110Mondo

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Findings

No curated finding names dyssegmental dysplasia-glaucoma syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

This syndrome is characterized by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children.

Definition from the Mondo Disease Ontology (MONDO:0011110), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: eye disorder
syndromic disease