This HTML5 document contains 19 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

Prefix	IRI
n5	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_0111673

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0050736 n2:DOID_0080006 _:vb50945250

rdfs:label

Saul-Wilson syndrome

wdrs:describedby

n5:doid.owl

obo:id

DOID:0111673

obo:hasDbXref

ORDO:85172 UMLS_CUI:C1300285 SNOMEDCT_US_2021_09_01:389197004 OMIM:618150

obo:hasExactSynonym

microcephalic osteodysplastic dysplasia, Saul-Wilson type SWILS

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in COG4 on chromosome 16q22.1.

Subject Item

_:vb50945250

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000147

wdrs:describedby

n5:doid.owl