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Metadata
ID DOID:0081020
Name congenital fibrosis of the extraocular muscles 5
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.
https://pubmed.ncbi.nlm.nih.gov/25500261/
Xrefs

MIM:616219

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is_a congenital fibrosis of the extraocular muscles

is_a autosomal recessive disease

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