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DO Term : congenital fibrosis of the extraocular muscles 2 [DOID:0081016] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • 602078,
  • OMIM:602078
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Disease

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Diseases --> Mouse genes

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Ontology

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Ontology Term --> Direct children

Ontology Term --> Direct parents