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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:
OMIM:609384,
609384

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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