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Summary Literature (0)
DOID:0080143 - congenital fibrosis of the extraocular muscles


Disease Ontology Definition:An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position.

Synonyms: Tukel syndrome

Xenbase Genes : tubb2b, phox2a, col25a1.1, kif21a, tubb3, col25a1.2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007614 - congenital fibrosis of extraocular muscles

OMIM:
OMIM:135700 - FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; CFEOM1
OMIM:600638 - FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A
OMIM:602078 - FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2; CFEOM2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): ocular motility disease (is_a)