OBO ID: DOID:0111516
Term Name: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 Search Ontology:
Synonyms:
  • 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 DGUOK on chromosome 2p13.1. https://www.ncbi.nlm.nih.gov/pubmed/23043144
References:
Ontology: Human Disease   (DOID:0111516)
OTHER autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DGUOK Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 617070
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None