blepharophimosis, ptosis, and epicanthus inversus syndrome

Term ID

DOID:14778

Synonyms

• Blepharophimosis, ptosis, epicanthus inversus syndrome

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

References

• MESH:C562419
• MIM:110100
• SNOMEDCT_US_2023_03_01:79833006
• UMLS_CUI:C0220663

Ontology

Human Disease   ( DOID:14778 )