Metadata | |
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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/ |
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Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |