FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term congenital fibrosis of the extraocular muscles 2 ID (Ontology) DOID:0081016 (Human Disease)
Definition A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13.
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 Genes
 congenital fibrosis of the extraocular muscles 2       2
 for disease ribbon | congenital fibrosis of the extraocular muscles 2       2
 model of | congenital fibrosis of the extraocular muscles 2       2
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autosomal genetic disease
 |__autosomal recessive disease_____________________
physical disorder                                   |
 |__congenital fibrosis of the extraocular muscles__|
ocular motility disease                             |
 |__congenital fibrosis of the extraocular muscles__|
                                                    congenital fibrosis of the extraocular muscles 2  2 rec.
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Is a autosomal recessive disease
congenital fibrosis of the extraocular muscles
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MIM:602078