Mitochondrial oxidative phosphorylation disorder

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Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA

ORPHA:254767Category

Also called Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA · OXPHOS disease due to a large-scale single deletion of mitochondrial DNA · OXPHOS disease due to a large-scale single deletion of mtDNA

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Category

Genes reported in subtypes

MT-ATP8MT-TL1MT-TL2MT-TNMT-TS1RNASEH1RRM2B

Orphanet records these genes on 3 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

MONDO 16792UMLS C5679643

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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