DISEASES

Disease-gene associations mined from literature

Human genes for ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome [DOID:0090119]

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:  ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,  DOID:0090119,  ankyloblepharonectodermal defectscleft lip/palate syndrome,  ankyloblepharon-ectodermal defects-cleft lip/palate disease,  ankyloblepharon-ectodermal defects-cleft lip/palate disorder ...