Metadata | |
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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 | |
Synonyms |
autosomal dominant progressive external ophthalmoplegia 4 [EXACT] PEOA4 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |