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DO Term : blepharophimosis, ptosis, and epicanthus inversus syndrome [DOID:14778] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • Blepharophimosis, ptosis, epicanthus inversus syndrome,
  • SNOMEDCT_US_2023_03_01:79833006,
  • UMLS_CUI:C0220663,
  • 110100,
  • OMIM:110100,
  • MESH:C562419
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents