blepharophimosis, ptosis, and epicanthus inversus syndrome

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: foxl2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007201 - blepharophimosis, ptosis, and epicanthus inversus syndrome

MONDO:0007201 - blepharophimosis, ptosis, and epicanthus inversus syndrome

MIM:

MIM:110100 - BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

MIM:110100 - BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

Other Model Organisms: Alliance, 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)