Metadata | |
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ID | DOID:0111522 |
Name | autosomal recessive progressive external ophthalmoplegia 1 |
Definition | A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1. https://www.ncbi.nlm.nih.gov/pubmed/11431686 |
Xrefs | |
Synonyms |
PEOB1 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |