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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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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

vitamin B12- and folate-independent constitutional megaloblastic anemia

MONDO:0020112Mondo

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Findings

No curated finding names vitamin B12- and folate-independent constitutional megaloblastic anemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Where it sits

A kind of: hereditary anemia
megaloblastic anemia
Narrower terms (2): orotic aciduria
thiamine-responsive megaloblastic anemia syndrome