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DO Term : congenital fibrosis of the extraocular muscles 3C [DOID:0081019] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that has_material_basis_in a reciprocal translocation t(2;13)(q37.3;q12.11).
  • synonyms:
  • 609384,
  • OMIM:609384
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Disease

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Ontology

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