This HTML5 document contains 21 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

Prefix	IRI
n6	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
rdfs	http://www.w3.org/2000/01/rdf-schema#
obo	http://www.geneontology.org/formats/oboInOwl#
rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Statements

Subject Item

n2:DOID_0090119

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0050736 _:vb50942294 n2:DOID_2121

rdfs:label

ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

wdrs:describedby

n6:doid.owl

obo:id

DOID:0090119

obo:hasDbXref

MESH:C535289 ORDO:1071 OMIM:106260 UMLS_CUI:C1785148 SNOMEDCT_US_2021_09_01:7731005

obo:hasExactSynonym

AEC syndrome Hay-Wells syndrome ankyloblepharon-ectodermal defects-cleft lip and palate syndrome

obo:hasOBONamespace

disease_ontology

n2: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.

Subject Item

_:vb50942294

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000147

wdrs:describedby

n6:doid.owl