OBO ID: DOID:0111523
Term Name: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 Search Ontology:
Synonyms:
  • autosomal recessive progressive external ophthalmoplegia 3
  • PEOB3
Definition: A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21. https://www.ncbi.nlm.nih.gov/pubmed/21937588
References:
Ontology: Human Disease   (DOID:0111523)
OTHER autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TK2 ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 617069
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None