congenital fibrosis of the extraocular muscles 2 Disease Ontology Browser

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Disease Ontology Browser

congenital fibrosis of the extraocular muscles 2 (DOID:0081016)
Alliance: disease page
Alt IDs: OMIM:602078
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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