blepharophimosis, ptosis, and epicanthus inversus syndrome
Information
- Disease name
- blepharophimosis, ptosis, and epicanthus inversus syndrome
- Disease ID
- DOID:14778
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11175783]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- MESH:C562419
- Cross Reference ID (Disease Ontology)
- MIM:110100
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:79833006
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0220663
- Disase Synonym (Disease Ontology)
- Blepharophimosis, ptosis, epicanthus inversus syndrome