Search Ontology:
Human Disease

congenital fibrosis of the extraocular muscles 3C

Term ID
DOID:0081019
Synonyms
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/
References
Ontology
Human Disease   ( DOID:0081019 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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