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Metadata
ID DOID:0111524
Name autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5
Definition A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2.
https://www.ncbi.nlm.nih.gov/pubmed/29290614
Xrefs

OMIM:618098

Synonyms

autosomal recessive progressive external ophthalmoplegia 5 [EXACT]

PEOB5 [EXACT]

Parent Relationships

is_a chronic progressive external ophthalmoplegia

is_a autosomal recessive disease

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