This HTML5 document contains 24 embedded RDF statements represented using HTML+Microdata notation.

The embedded RDF content will be recognized by any processor of HTML5 Microdata.

Namespace Prefixes

Prefix	IRI
n7	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n3	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

n3:DOID_14737

rdf:type

owl:Class

rdfs:subClassOf

n3:DOID_0080009 _:vb50949742 n3:DOID_225

rdfs:label

craniofrontonasal syndrome

rdfs:comment

OMIM mapping confirmed by DO. [SN].

wdrs:describedby

n7:doid.owl

obo:id

DOID:14737

obo:hasDbXref

OMIM:304110 ORDO:1520 UMLS_CUI:C0220767 SNOMEDCT_US_2021_09_01:715421009 MESH:C536456 GARD:1578

obo:hasExactSynonym

CFNS craniofrontonasal dysplasia CFND craniofrontonasal dysostosis

obo:hasOBONamespace

disease_ontology

n3:IAO_0000115

A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton.

Subject Item

_:vb50949742

rdf:type

owl:Restriction

owl:onProperty

n3:IDO_0000664

owl:someValuesFrom

n3:GENO_0000146

wdrs:describedby

n7:doid.owl