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Summary Literature (0)
DOID:0081015 - congenital fibrosis of the extraocular muscles 1


Disease Ontology Definition:A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12.

Synonyms:

Xenbase Genes : kif21a



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), congenital fibrosis of the extraocular muscles (is_a)