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Metadata
ID DOID:0111525
Name autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
Definition A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3.
https://www.ncbi.nlm.nih.gov/pubmed/16685652
Xrefs

MIM:610131

Synonyms

autosomal dominant progressive external ophthalmoplegia 4 [EXACT]

PEOA4 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a chronic progressive external ophthalmoplegia

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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