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Standards Ontologies Notations
combined oxidative phosphorylation deficiency

Summary
Definition
A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction.
Super Class
mitochondrial metabolism disease
Disease Ontology
DOID:0060286
Mondo Disease Ontology
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
25821 MTO1 mitochondrial tRNA translation optimization 1
79736 TEFM transcription elongation factor, mitochondrial
Displaying 1 entry
Gene ID Gene Symbol Description Source
68291 Mto1 mitochondrial tRNA translation optimization 1
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024