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Disease Ontology Browser
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (DOID:0090119)
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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 autosomal dominant disease characterized by autosomal dominant inheritance in tissues arising from the ectoderm including: ankyloblepharon filiforme adnatum and cleft lip and palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q27.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.13
The Jackson Laboratory