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Human Disease

congenital fibrosis of the extraocular muscles 5

Term ID
DOID:0081020
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. https://pubmed.ncbi.nlm.nih.gov/25500261/
References
Ontology
Human Disease   ( DOID:0081020 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations