Search Ontology:
Human Disease
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4
- Term ID
- DOID:0111516
- Synonyms
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- adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
- adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency
- autosomal recessive progressive external ophthalmoplegia 4
- PEOB4
- Definition
- A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1. https://www.ncbi.nlm.nih.gov/pubmed/23043144
- References
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- MIM:617070
- ORDO:329314
- Ontology
- Human Disease ( DOID:0111516 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models