OBO ID: DOID:0111524
Term Name: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 Search Ontology:
Synonyms:
  • autosomal recessive progressive external ophthalmoplegia 5
  • PEOB5
Definition: A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TOP3A on chromosome 17p11.2. https://www.ncbi.nlm.nih.gov/pubmed/29290614
References:
Ontology: Human Disease   (DOID:0111524)
OTHER autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TOP3A ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 618098
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None