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,

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

OMIM:

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: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

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

Parent(s): ocular motility disease (is_a)