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Human Disease

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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations