Search Ontology:
Human Disease

autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3

Term ID
DOID:0111523
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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models