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Metadata
ID DOID:0081019
Name congenital fibrosis of the extraocular muscles 3C
Definition 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).
https://pubmed.ncbi.nlm.nih.gov/15744040/
Xrefs

MIM:609384

Parent Relationships

is_a autosomal dominant disease

is_a congenital fibrosis of the extraocular muscles

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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