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Disease Ontology Browser
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (DOID:0090119)
Alliance: disease page
Synonyms: AEC syndrome; ankyloblepharon-ectodermal defects-cleft lip and palate syndrome; Hay-Wells syndrome
Alt IDs: OMIM:106260, MESH:C535289, ORDO:1071, UMLS_CUI:C1785148
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory