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Standards Ontologies Notations
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2

Summary
Synonym
  • PEOA2
  • autosomal dominant progressive external ophthalmoplegia 2
Definition
A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1.
Super Class
autosomal dominant disease chronic progressive external ophthalmoplegia
Disease Ontology
DOID:0111517
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
293 SLC25A6 solute carrier family 25 member 6
Displaying all 2 entries
Gene ID Gene Symbol Description Source
11739 Slc25a4 solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4
11740 Slc25a5 solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
85333 Slc25a4 solute carrier family 25 member 4
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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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