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Metadata
ID DOID:14778
Name blepharophimosis, ptosis, and 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 FOXL2 on chromosome 3q22.3.
https://www.ncbi.nlm.nih.gov/pubmed/11175783
Xrefs

MESH:C562419

OMIM:110100

SNOMEDCT_US_2019_09_01:715391004

UMLS_CUI:C0220663

Synonyms

Blepharophimosis, ptosis, epicanthus inversus syndrome [RELATED]

Parent Relationships

is_a syndrome

is_a autosomal genetic disease

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