Search Ontology:
Human Disease

ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

Term ID
DOID:0090119
Synonyms
  • AEC syndrome
  • ankyloblepharon-ectodermal defects-cleft lip and palate syndrome
  • Hay-Wells syndrome
Definition
An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27. (3)
References
Ontology
Human Disease   ( DOID:0090119 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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