About: ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

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About: ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal dominant disease ectodermal dysplasia nodeID://b50942294
label	ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0090119
database_cross_reference	MESH:C535289 OMIM:106260 ORDO:1071 SNOMEDCT_US_2021_09_01:7731005 UMLS_CUI:C1785148
has_exact_synonym	AEC syndrome (en) Hay-Wells syndrome (en) ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942295

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