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blepharophimosis, ptosis, and epicanthus inversus syndrome (DOID:14778)
Alliance: disease page
Synonyms: Blepharophimosis, ptosis, epicanthus inversus syndrome
Alt IDs: OMIM:110100, MESH:C562419, UMLS_CUI:C0220663
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.

Disease References using Mouse Models (3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory