FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital fibrosis of the extraocular muscles 3A ID (Ontology) DOID:0081017 (Human Disease)
Definition 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.
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 Genes
 congenital fibrosis of the extraocular muscles 3A       5
 for disease ribbon | congenital fibrosis of the extraocular muscles 3A       5
 model of | congenital fibrosis of the extraocular muscles 3A       5
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autosomal genetic disease
 |__autosomal dominant disease______________________
physical disorder                                   |
 |__congenital fibrosis of the extraocular muscles__|
ocular motility disease                             |
 |__congenital fibrosis of the extraocular muscles__|
                                                    congenital fibrosis of the extraocular muscles 3A  5 rec.
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Is a autosomal dominant disease
congenital fibrosis of the extraocular muscles
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MIM:600638