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About: congenital fibrosis of the extraocular muscles 2     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
type
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  • congenital fibrosis of the extraocular muscles 2 (en)
described by
id
  • DOID:0081016
database_cross_reference
  • OMIM:602078
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
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