| Metadata | |
|---|---|
| ID | DOID:0090119 |
| Name | ankyloblepharon-ectodermal defects-cleft lip/palate 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. https://www.ncbi.nlm.nih.gov/pubmed/29956718, https://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/29339502 |
| Xrefs |
SNOMEDCT_US_2023_03_01:7731005 |
| Subsets |
DO_rare_slim |
| Synonyms |
AEC syndrome [EXACT] ankyloblepharon-ectodermal defects-cleft lip and palate syndrome [EXACT] Hay-Wells syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a ectodermal dysplasia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |