OBO ID: DOID:14778 |
Term Name: | blepharophimosis, ptosis, and epicanthus inversus syndrome | Search Ontology: | |
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Definition: | A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in the FOXL2 gene on chromosome 3q22.3. https://www.ncbi.nlm.nih.gov/pubmed/11175783 | ||
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Ontology: | Human Disease ( DOID:14778 ) |
OTHER blepharophimosis, ptosis, and epicanthus inversus syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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