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Standards Ontologies Notations
mitochondrial complex III deficiency nuclear type 5

Summary
Definition
A mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the UQCRC2 gene on chromosome 16p12.
Super Class
mitochondrial complex III deficiency
Disease Ontology
DOID:0080114
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7385 UQCRC2 ubiquinol-cytochrome c reductase core protein 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
67003 Uqcrc2 ubiquinol cytochrome c reductase core protein 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
293448 Uqcrc2 ubiquinol cytochrome c reductase core protein 2
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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