Search Ontology:
Human Disease
congenital fibrosis of the extraocular muscles 3A
- Term ID
- DOID:0081017
- Synonyms
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- Definition
- A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24. https://pubmed.ncbi.nlm.nih.gov/18214786/
- References
- Ontology
- Human Disease ( DOID:0081017 )
- is a type of
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Genes Involved
Zebrafish Models