_:vb50942014 . "disease_ontology"^^ . . "DOID:0081017"^^ . _:vb50942014 . _:vb50942014 . "congenital fibrosis of the extraocular muscles 3A"@en . . . . _:vb50942014 . "OMIM:600638"^^ . _:vb50942014 . "A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24."^^ .