OBO ID: DOID:14778
Term Name: blepharophimosis, ptosis, and epicanthus inversus syndrome Search Ontology:
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:
Ontology: Human Disease   ( DOID:14778 )
Relationships
is a type of:
OTHER blepharophimosis, ptosis, and epicanthus inversus syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FOXL2 Blepharophimosis, epicanthus inversus, and ptosis, type 1 110100
Blepharophimosis, epicanthus inversus, and ptosis, type 2 110100
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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