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Duane retraction syndrome 2
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene.
Uniprot Description A form of Duane retraction syndrome, a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction or both, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision.
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.
GARD:0009966
OMIM:604356
SCTID:128083007
MONDO:0011444
High level summary of knowledge for a disease, including descriptions and datasource references.