You are using an outdated browser. Please upgrade your browser to improve your experience.
congenital fibrosis of extraocular muscles type 1
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene.
Uniprot Description A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Patients affected by congenital fibrosis of extraocular muscles type 1 show an absence of the superior division of the oculomotor nerve (cranial nerve III) and corresponding oculomotor subnuclei.
Mondo Term and Equivalent IDs
MONDO:0021083: congenital fibrosis of extraocular muscles type 1
Download Data for congenital fibrosis of extraocular muscles type 1
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:135700
MONDO:0021083
High level summary of knowledge for a disease, including descriptions and datasource references.