Search Ontology:
Human Disease

congenital fibrosis of the extraocular muscles 2

Term ID
DOID:0081016
Synonyms
Definition
A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13. https://pubmed.ncbi.nlm.nih.gov/11600883/
References
Ontology
Human Disease   ( DOID:0081016 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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