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

In 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

In Mondo Disease Ontology:

MONDO:0007614 - congenital fibrosis of extraocular muscles

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : tubb2b, phox2a, kif21a, tubb3

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