Metadata | |
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ID | DOID:0111520 |
Name | autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 |
Definition | A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the TWNK gene on chromosome 10q24.31. https://www.ncbi.nlm.nih.gov/pubmed/11431692 |
Xrefs | |
Synonyms |
autosomal dominant progressive external ophthalmoplegia 3 [EXACT] PEOA3 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |