congenital fibrosis of the extraocular muscles

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tubb2b, phox2a, col25a1, kif21a, tubb3, col25a1.2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007614 - congenital fibrosis of extraocular muscles

MONDO:0007614 - congenital fibrosis of extraocular muscles

MIM:

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

MIM:135700 - FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; CFEOM1

MIM:600638 - FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A

MIM:602078 - FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2; CFEOM2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): ocular motility disease (is_a), physical disorder (is_a)