Term Name: | congenital fibrosis of the extraocular muscles 5 |
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Synonyms: | |
Definition: | A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25. |
Ontology: | Human Disease [DOID:0081020] ( DOID:0081020 ) |