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Summary Literature (0)
DOID:14778 - blepharophimosis, ptosis, and epicanthus inversus syndrome

Disease Ontology 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.

Synonyms: Blepharophimosis, ptosis, epicanthus inversus syndrome,

Xenbase Genes : foxl2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007201 - blepharophimosis, ptosis, and epicanthus inversus syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), autosomal genetic disease (is_a), syndrome (is_a)