|
DOID:0081016 - congenital fibrosis of the extraocular muscles 2
Disease Ontology 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.
Synonyms:
Xenbase Genes
:
phox2a
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
congenital fibrosis of the extraocular muscles (is_a)