Terminology Service for NFDI4Health

blepharophimosis, ptosis, and epicanthus inversus syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_14778


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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

blepharophimosis, ptosis, and epicanthus inversus syndrome

Synonyms
  • Blepharophimosis, ptosis, epicanthus inversus syndrome
database cross reference
comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:14778