Metadata | |
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ID | DOID:0111523 |
Name | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 |
Definition | A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21. https://www.ncbi.nlm.nih.gov/pubmed/21937588 |
Xrefs | |
Synonyms |
autosomal recessive progressive external ophthalmoplegia 3 [EXACT] PEOB3 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |