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Summary Literature (0)
DOID:0090119 - ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

Disease Ontology 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.

Synonyms: AEC syndrome, Hay-Wells syndrome, ankyloblepharon-ectodermal defects-cleft lip and palate syndrome,

Xenbase Genes : tp63

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007124 - ankyloblepharon-ectodermal defects-cleft lip/palate syndrome


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), ectodermal dysplasia (is_a)