OBO ID: DOID:0090119
Term Name: ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Search Ontology:
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. (4)
References:
Ontology: Human Disease   (DOID:0090119)
OTHER ankyloblepharon-ectodermal defects-cleft lip/palate syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TP63 Hay-Wells syndrome 106260
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None