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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://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/29339502, https://www.ncbi.nlm.nih.gov/pubmed/29956718, https://www.omim.org/entry/106260
Xrefs

MESH:C535289

OMIM:106260

ORDO:1071

SNOMEDCT_US_2020_03_01:7731005

UMLS_CUI:C1785148

Synonyms

AEC syndrome [EXACT]

ankyloblepharon-ectodermal defects-cleft lip and palate syndrome [EXACT]

Hay-Wells syndrome [EXACT]

Parent Relationships

is_a ectodermal dysplasia

is_a autosomal dominant disease

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