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CompoundsSubstances with curated findings
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ProteinsTransporters and enzymes
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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

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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

COX deficiency, benign infantile mitochondrial myopathy

MONDO:0957524Mondo

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Findings

No curated finding names COX deficiency, benign infantile mitochondrial myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles.

Definition from the Mondo Disease Ontology (MONDO:0957524), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: inborn mitochondrial myopathy
mitochondrial complex IV deficiency, nuclear-type