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| Term | ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | ID (Ontology) | DOID:0090119 (Human Disease) |
| 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. | ||
| Also Known As | "AEC syndrome" ; "ankyloblepharon-ectodermal defects-cleft lip and palate syndrome" ; "Hay-Wells syndrome" | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ syndrome | |__ectodermal dysplasia________| ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1 rec. |
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| Is a |
autosomal dominant disease ectodermal dysplasia |
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External Crossreferences & Linkouts
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MESH:C535289 MIM:106260 ORDO:1071 SNOMEDCT_US_2023_03_01:7731005 UMLS_CUI:C1785148 |
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