OBO ID: DOID:0081017
Term Name: congenital fibrosis of the extraocular muscles 3A Search Ontology:
Synonyms:
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 )
Relationships
is a type of:
OTHER congenital fibrosis of the extraocular muscles 3A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TUBB3 Fibrosis of extraocular muscles, congenital, 3A
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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