Term Name: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3
Synonyms: autosomal recessive progressive external ophthalmoplegia 3, PEOB3
Definition: A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21.
Ontology: Human Disease [DOID:0111523]   ( DOID:0111523 )

Relationships
is a type of: autosomal recessive disease chronic progressive external ophthalmoplegia