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CompoundsSubstances with curated findings
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ReactionsRhea and Human-GEM, by subsystem
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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

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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

mitochondrial DNA maintenance syndrome

MONDO:0018121Mondo

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Findings

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

Definition

An inherited metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance.

Definition from the Mondo Disease Ontology (MONDO:0018121), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: mitochondrial oxidative phosphorylation disorder

Other names

4 names

Resolves to: mitochondrial DNA maintenance syndrome

Also called: inborn error of mitochondrial genome maintenanceinborn mitochondrial genome maintenance disordermtDNA maintenance syndromerare inborn error of mitochondrial genome maintenance