Search Ontology:
Human Disease
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- Term ID
- DOID:0090119
- Synonyms
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- AEC syndrome
- ankyloblepharon-ectodermal defects-cleft lip and palate syndrome
- Hay-Wells syndrome
- 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. (3)
- References
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- MESH:C535289
- MIM:106260
- ORDO:1071
- SNOMEDCT_US_2023_03_01:7731005
- UMLS_CUI:C1785148
- Ontology
- Human Disease ( DOID:0090119 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models